Genetic Conditions (737 total)

Autoimmune 5

Polygenic inflammatory bowel disease risk arises from the combined effect of hundreds of common genetic variants, each nudging the immune system and gut lining towards inflammation.

Polygenic / Complex Also: IBD, Crohn's disease

Multiple sclerosis

Multiple Sclerosis (MS) is a chronic autoimmune condition that affects the brain and spinal cord, leading to a range of symptoms.

Polygenic / Complex

Autoinflammatory 10

Behçet disease

Behçet disease is a chronic autoinflammatory disorder characterised by recurrent oral and genital ulcers, eye inflammation, and widespread blood vessel inflammation affecting arteries and veins.

Polygenic / Complex

Blau syndrome

Blau syndrome is a rare inherited autoinflammatory disorder characterised by chronic inflammation affecting primarily the joints, skin, and eyes.

Chronic recurrent multifocal osteomyelitis (CRMO)

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare inflammatory bone disorder characterised by episodes of bone pain and swelling.

Polygenic / Complex

Cryopyrin-associated periodic syndromes

Cryopyrin-associated periodic syndromes are a group of rare inherited autoinflammatory conditions characterised by recurrent episodes of fever and inflammation affecting multiple body systems.

DIRA

DIRA (deficiency of interleukin-1 receptor antagonist) is a rare inherited autoinflammatory disorder characterised by excessive, uncontrolled inflammation affecting multiple body systems.

Familial Mediterranean fever

Familial Mediterranean fever (FMF) is an inherited autoinflammatory condition characterised by recurrent, self-limiting episodes of fever and inflammation in various body parts.

Majeed syndrome

Majeed syndrome is a very rare inherited autoinflammatory condition characterised by chronic recurrent multifocal osteomyelitis, distinctive skin findings, and recurrent fevers.

Mevalonate kinase deficiency / HIDS

Mevalonate Kinase Deficiency (MKD), also known as Hyperimmunoglobulinemia D Syndrome (HIDS), is a rare genetic autoinflammatory condition characterised by recurrent fevers and inflammation.

PAPA syndrome

PAPA syndrome is a rare inherited autoinflammatory condition characterised by recurrent episodes of sterile arthritis, specific skin ulcers (pyoderma gangrenosum), and severe cystic acne.

PFAPA syndrome

PFAPA syndrome is an autoinflammatory condition in children characterised by recurrent episodes of high fever, mouth ulcers, sore throat, and swollen lymph nodes.

Polygenic / Complex

Cancer 7

Breast cancer (polygenic risk)

Breast cancer is a common cancer where a combination of many genetic variations, alongside lifestyle and environmental factors, can influence an individual's risk.

Polygenic / Complex Also: Breast cancer

Colorectal cancer (polygenic risk)

Polygenic risk for colorectal cancer refers to the cumulative effect of multiple common genetic variants that modestly increase an individual's likelihood of developing bowel cancer.

Polygenic / Complex Also: Colorectal cancer, Bowel cancer

Lung cancer (polygenic risk)

Lung cancer with polygenic risk refers to a person's susceptibility to developing lung cancer due to the combined effects of multiple genetic variations.

Polygenic / Complex

Melanoma (polygenic risk)

Melanoma is a serious type of skin cancer that develops from melanocytes, the cells that produce the pigment melanin.

Polygenic / Complex Also: Melanoma, Skin cancer

Ovarian cancer (polygenic risk)

Polygenic ovarian cancer risk arises from the combined effect of many common genetic variants spread across the genome, each nudging risk up or down by a small amount.

Polygenic / Complex Also: Ovarian cancer

Pancreatic cancer (polygenic risk)

Polygenic pancreatic cancer risk arises from the combined effect of many common genetic variants spread across the genome, each nudging risk up or down by a small amount.

Polygenic / Complex Also: Pancreatic cancer

Prostate cancer (polygenic risk)

Polygenic prostate cancer risk arises from the combined effect of many common genetic variants spread across the genome, each nudging a man's lifetime risk up or down by a small amount.

Polygenic / Complex Also: Prostate cancer

Cancer Predisposition 37

BAP1 tumour predisposition syndrome

BAP1 tumour predisposition syndrome is a rare inherited condition caused by pathogenic variants in the BAP1 gene, which substantially increases the risk of developing several specific tumour types.

Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome is a rare inherited condition caused by pathogenic variants in FLCN that affects the skin, lungs and kidneys.

Bloom syndrome

Bloom syndrome is a rare inherited condition primarily characterised by profound growth deficiency, sun sensitivity, and a high risk of developing various cancers.

BRCA1/PALB2-associated breast cancer

BRCA1/PALB2-associated breast cancer is a type of breast cancer with a significantly increased lifetime risk due to inherited changes in either the BRCA1 or PALB2 gene.

Constitutional mismatch repair deficiency

Constitutional mismatch repair deficiency is a rare inherited condition where both copies of a DNA repair gene are faulty, leading to widespread genomic instability from early life.

Cowden syndrome

Cowden syndrome is an inherited condition characterised by multiple benign tissue growths and substantially increased risks of certain cancers, particularly affecting the breast, thyroid, and uterus.

DICER1 syndrome

DICER1 syndrome is an inherited condition that increases the risk of developing several types of rare tumours, particularly affecting the lungs, thyroid gland, ovaries and kidneys.

Familial adenomatous polyposis

Familial adenomatous polyposis is an inherited condition characterised by the development of hundreds to thousands of benign growths (polyps) in the lining of the colon and rectum during adolescence and early adulthood.

Familial medullary thyroid carcinoma

Familial medullary thyroid carcinoma (FMTC) is an inherited condition that causes an increased risk of developing medullary thyroid cancer.

Familial melanoma

Familial melanoma describes an inherited predisposition to developing melanoma, a type of skin cancer, often at multiple sites or earlier in life.

Familial testicular germ cell tumour

Familial testicular germ cell tumour is a rare, inherited condition that increases an individual's risk of developing testicular cancer.

Familial Wilms tumour

Familial Wilms tumour is an inherited condition that substantially increases the risk of developing a specific type of kidney cancer in early childhood.

Gorlin syndrome

Gorlin syndrome is an inherited condition characterised by an increased risk of developing certain tumours and a range of distinctive physical features.

Hereditary breast and ovarian cancer syndrome

Hereditary breast and ovarian cancer syndrome is an inherited condition caused by pathogenic variants in DNA repair genes, primarily BRCA1 and BRCA2, that substantially increase lifetime cancer risk.

AD Also: Hereditary breast-ovarian cancer (BRCA1), Hereditary breast-ovarian cancer (BRCA2)

Hereditary breast cancer (moderate-penetrance genes)

Hereditary breast cancer linked to moderate-penetrance genes is a genetic predisposition that increases an individual's risk of developing breast cancer.

AD Also: Hereditary breast cancer (CHEK2), Hereditary breast cancer (ATM)

Hereditary diffuse gastric cancer

Hereditary diffuse gastric cancer (HDGC) is an inherited condition that significantly increases the lifetime risk of developing diffuse type stomach cancer and lobular breast cancer.

Hereditary diffuse gastric cancer (CTNNA1)

Hereditary diffuse gastric cancer (CTNNA1) is an inherited condition that increases the risk of developing a specific type of stomach cancer called diffuse gastric cancer.

Hereditary leiomyomatosis and RCC

Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) is a rare inherited condition increasing the risk of developing benign and malignant tumours in specific organs.

AD Also: Hereditary leiomyomatosis (cutaneous)

Hereditary papillary RCC

Hereditary Papillary Renal Cell Carcinoma (HPRCC) is a rare genetic condition that increases an individual's risk of developing a specific type of kidney cancer.

Hereditary papillary thyroid carcinoma

Hereditary papillary thyroid carcinoma is a rare genetic condition that increases an individual's lifetime risk of developing papillary thyroid cancer.

Hereditary paraganglioma-phaeochromocytoma (SDHB)

Hereditary paraganglioma-phaeochromocytoma (SDHB) is an inherited tumour syndrome caused by pathogenic variants in the SDHB gene, leading to an increased risk of developing tumours in specialised nerve tissue throughout the body.

Hereditary paraganglioma (SDHD)

Hereditary paraganglioma is a rare genetic condition primarily characterised by an increased risk of developing paragangliomas and phaeochromocytomas.

Hereditary prostate cancer

Hereditary prostate cancer refers to prostate cancer that arises due to inherited genetic changes, rather than occurring sporadically.

HOXB13-associated prostate cancer

HOXB13-associated prostate cancer refers to prostate cancer that arises in individuals with specific inherited changes in the HOXB13 gene.

Juvenile polyposis syndrome

Juvenile polyposis syndrome is a rare inherited condition characterised by the development of multiple polyps in the gastrointestinal tract, particularly in the large bowel.

Li-Fraumeni syndrome

Li-Fraumeni syndrome is a rare inherited disorder that substantially raises an individual's lifetime risk of developing various cancers, often at an early age.

Lynch syndrome (MLH1)

Lynch syndrome caused by changes in the MLH1 gene is an inherited condition that significantly increases the risk of developing several types of cancer.

Lynch syndrome (MSH2)

Lynch syndrome is an inherited cancer predisposition condition caused by pathogenic variants in DNA mismatch repair genes, substantially increasing the lifetime risk of colorectal, endometrial and several other cancers.

Lynch syndrome (MSH6)

Lynch syndrome (MSH6) is an inherited condition that increases an individual's lifetime risk of developing certain cancers, primarily colorectal and endometrial cancers.

Lynch syndrome (PMS2)

Lynch syndrome (PMS2-related) is an inherited condition that significantly increases an individual's lifetime risk of developing certain cancers.

Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a genetic condition that primarily affects the nervous system, skin, and bones, leading to the growth of non-cancerous tumours on nerves.

Neurofibromatosis type 2

Neurofibromatosis type 2 is an inherited condition characterised by the development of benign tumours in the nervous system, particularly schwannomas affecting the hearing nerves.

Perlman syndrome

Perlman syndrome is a rare genetic condition characterised by excessive foetal growth (overgrowth) and kidney abnormalities.

Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is an inherited condition characterised by distinctive polyps throughout the gastrointestinal tract and an increased risk of various cancers.

Retinoblastoma (hereditary)

Hereditary retinoblastoma is a rare childhood eye cancer that develops when pathogenic changes in the RB1 gene disrupt normal cell growth regulation in the retina.

Somatic TP53 mosaicism

Somatic TP53 mosaicism occurs when a genetic change in the TP53 gene develops in some, but not all, cells after conception, potentially increasing cancer risk.

Somatic / Mosaic

Von Hippel-Lindau syndrome

Von Hippel-Lindau syndrome is an inherited condition that predisposes individuals to developing tumours and cysts in various organs throughout the body.

Cardiovascular 34

Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic heart condition characterised by the progressive replacement of healthy heart muscle in the right ventricle with fatty and fibrous tissue.

Atrial fibrillation

Atrial fibrillation (AF) is a common heart condition characterised by an irregular and often rapid heart rhythm, originating in the heart's upper chambers.

Polygenic / Complex Also: AF, Afib

Barth syndrome

Barth syndrome is a rare, inherited condition primarily characterised by a weakened heart muscle (cardiomyopathy), muscle weakness, and a low white blood cell count (neutropenia).

XLR

Bicuspid aortic valve (familial)

Familial bicuspid aortic valve is a congenital heart condition where the aortic valve, located in the heart, forms with two leaflets instead of the usual three.

Brugada syndrome

Brugada syndrome is a genetic heart condition characterised by specific changes on an electrocardiogram (ECG) and an increased risk of abnormal heart rhythms (arrhythmias).

Cantú syndrome

Cantú syndrome is a rare genetic condition predominantly characterised by cardiac, skeletal, and distinctive facial features.

Catecholaminergic polymorphic VT

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited heart rhythm disorder that can cause dangerously fast and irregular heartbeats.

Congenital heart disease (non-syndromic)

Congenital heart disease (non-syndromic) involves structural problems of the heart that are present at birth, not associated with a broader genetic condition.

Polygenic / Complex

Coronary artery disease

Polygenic coronary artery disease risk arises from the combined effect of many common genetic variants spread across the genome, each nudging an individual's lifetime risk of heart disease up or down by a small amount.

Polygenic / Complex Also: Coronary heart disease, Heart attack risk

Danon disease

Danon disease is a rare genetic condition that primarily affects the heart, skeletal muscles, and brain, caused by changes in the LAMP2 gene.

XLR

Dilated cardiomyopathy (TTN-truncating)

Dilated cardiomyopathy (TTN-truncating) is a genetic heart condition characterised by a weakened and enlarged heart muscle, reducing its ability to pump blood effectively.

Elevated lipoprotein(a)

Most variation in lipoprotein(a) is inherited, driven largely by the LPA gene together with other common variants that together set a person's lifelong, largely fixed level.

Polygenic / Complex Also: Lipoprotein(a), High lipoprotein(a)

Essential hypertension

Essential hypertension is a common medical condition characterised by persistently elevated blood pressure readings without an identifiable secondary cause.

Polygenic / Complex Also: Hypertension, High blood pressure

Familial atrial fibrillation

Familial atrial fibrillation is a genetic heart condition characterised by an irregular and often rapid heartbeat originating in the upper chambers of the heart.

Familial chylomicronaemia syndrome

Familial chylomicronaemia syndrome is a rare inherited metabolic disorder characterised by severely elevated triglyceride levels in the blood from infancy.

Familial dilated cardiomyopathy (all)

Familial dilated cardiomyopathy (DCM) is an inherited condition characterised by a weakened and enlarged heart muscle, making it harder for the heart to pump blood effectively.

AD/AR Also: Dilated cardiomyopathy (LMNA)

Familial hypercholesterolaemia

Familial hypercholesterolaemia (FH) is a genetic condition characterised by significantly elevated levels of low-density lipoprotein (LDL) cholesterol from birth.

Familial thoracic aortic aneurysm and dissection

Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) is a genetic condition that weakens the wall of the aorta, the body's main artery.

AD Also: Familial thoracic aortic aneurysm (ACTA2), Familial thoracic aortic aneurysm (SMAD3)

Familial thoracic aortic aneurysm (PRKG1)

Familial thoracic aortic aneurysm (PRKG1) is an inherited condition that causes a weakening and enlargement of the body's main artery, the aorta, in the chest.

Holt-Oram syndrome

Holt-Oram syndrome is a genetic condition characterised by abnormalities in the upper limbs and congenital heart defects.

Hyperlipidaemia (polygenic)

Polygenic hyperlipidaemia describes high levels of lipids (fats) in the blood due to the combined effect of several genetic variations and lifestyle factors.

Polygenic / Complex

Hypertriglyceridaemia

Polygenic hypertriglyceridaemia arises from the combined effect of many common genetic variants, each nudging blood triglyceride levels a little higher, rather than from a single faulty gene.

Polygenic / Complex Also: High triglycerides, Raised triglycerides

Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a genetic heart condition characterised by thickening of the heart muscle, particularly the left ventricle.

Left ventricular non-compaction (familial)

Familial Left Ventricular Non-Compaction (LVNC) is a rare, genetic heart muscle condition where the left ventricle of the heart has an unusual, spongy appearance.

AD/XL

Long QT syndrome (digenic)

Long QT syndrome (digenic) is a rare inherited heart condition where changes in two specific genes affect the heart's electrical recharging process.

Digenic

Long QT syndrome type 1

Long QT syndrome type 1 (LQTS1) is a genetic heart condition that affects the heart's electrical system, specifically its ability to repolarise after each beat.

Long QT syndrome type 2

Long QT syndrome type 2 (LQTS2) is an inherited heart rhythm disorder characterised by a prolonged QT interval on an electrocardiogram (ECG).

Long QT syndrome type 3

Long QT syndrome type 3 (LQTS3) is an inherited heart condition characterised by a specific electrical abnormality in the heart, increasing the risk of potentially life-threatening arrhythmias.

Low HDL cholesterol

Low HDL cholesterol is largely a polygenic trait, arising from the combined effect of many common genetic variants of small individual effect spread across the genome.

Polygenic / Complex Also: Low HDL, Low HDL cholesterol

Polygenic hypercholesterolaemia

Polygenic hypercholesterolaemia is raised LDL ("bad") cholesterol driven by the combined effect of many common genetic variants spread across the genome, rather than a single faulty gene.

Polygenic / Complex Also: Polygenic high cholesterol, High cholesterol

Progressive cardiac conduction defect (Lenègre)

Progressive cardiac conduction defect (PCCD), also known as Lenègre's disease, is a condition that affects the heart's electrical signalling system.

Restrictive cardiomyopathy (familial)

Familial restrictive cardiomyopathy is a rare inherited heart muscle disorder characterised by impaired ventricular filling due to increased stiffness of the heart chamber walls.

Short QT syndrome

Short QT syndrome is a rare inherited heart condition characterised by a faster-than-normal heart repolarisation, leading to a shortened QT interval on an electrocardiogram (ECG).

Stroke (polygenic risk)

Polygenic stroke risk arises from the combined effect of many common genetic variants across the genome, each nudging the odds of stroke up or down by a small amount.

Polygenic / Complex Also: Stroke, Ischaemic stroke

Chromosomal 8

15q13.3 microdeletion

15q13.3 microdeletion is a chromosomal condition caused by loss of a small piece of genetic material from chromosome 15.

Chromosomal

16p11.2 deletion syndrome

16p11.2 deletion syndrome is a chromosomal condition caused by a missing segment of genetic material on chromosome 16, which can affect development, learning, and behaviour.

Chromosomal

16p11.2 duplication syndrome

16p11.2 duplication syndrome is a chromosomal condition caused by having an extra copy of a small region on chromosome 16, leading to variable developmental and behavioural differences.

Chromosomal

17q12 deletion syndrome

17q12 deletion syndrome is a chromosomal disorder caused by loss of a specific segment of chromosome 17, affecting multiple body systems including the kidneys and brain.

Chromosomal

1q21.1 deletion syndrome

1q21.1 deletion syndrome is a chromosomal condition caused by loss of a small piece of genetic material from chromosome 1.

Chromosomal

1q21.1 duplication syndrome

1q21.1 duplication syndrome is a chromosomal disorder caused by having extra genetic material in a specific region of chromosome 1.

Chromosomal

2q37 deletion syndrome

2q37 deletion syndrome is a rare chromosomal condition caused by loss of genetic material from the long arm of chromosome 2.

Chromosomal

3q29 deletion syndrome

3q29 deletion syndrome is a chromosomal condition caused by loss of a small segment of genetic material on chromosome 3, affecting development and increasing vulnerability to psychiatric conditions.

Chromosomal

Chromosomal disorder 10

Down syndrome

Down syndrome is a chromosomal condition typically characterised by an extra copy of chromosome 21, leading to a range of developmental and health differences.

Chromosomal Also: Trisomy 21, 47,XX,+21

Edwards syndrome

Edwards syndrome, or Trisomy 18, is a genetic condition resulting from an extra copy of chromosome 18 in most or all of the body's cells.

Chromosomal Also: Trisomy 18, 47,XX,+18

Jacobs syndrome

XYY syndrome is a chromosomal condition in which males are born with an extra Y chromosome, resulting in a 47,XYY karyotype instead of the typical 46,XY.

Chromosomal Also: 47,XYY, XYY syndrome

Klinefelter syndrome

Klinefelter syndrome is a chromosomal condition in which males are born with an extra X chromosome, resulting in a 47,XXY karyotype instead of the typical 46,XY.

Chromosomal Also: 47,XXY, XXY syndrome

Patau syndrome

Patau syndrome, also known as Trisomy 13, is a rare and severe chromosomal condition resulting from an extra copy of chromosome 13.

Chromosomal Also: Trisomy 13, 47,XX,+13

Triple X syndrome

Triple X syndrome is a chromosomal condition in which females have three X chromosomes in their cells instead of the typical two.

Chromosomal Also: 47,XXX, Trisomy X

Trisomy 15 (mosaic)

Mosaic trisomy 15 is a rare chromosomal condition where some cells in the body contain three copies of chromosome 15 instead of the usual two.

Sporadic (mosaic) Also: mosaic trisomy 15, 47,XX,+15 mosaic

Trisomy 16 (mosaic)

Mosaic trisomy 16 is a rare chromosomal condition where some cells in the body contain three copies of chromosome 16 instead of the usual two.

Sporadic (mosaic) Also: mosaic trisomy 16, confined placental mosaicism 16

Trisomy 22 (mosaic)

Mosaic trisomy 22 is a rare chromosomal disorder where some cells in the body contain three copies of chromosome 22 instead of the usual two.

Sporadic (mosaic) Also: mosaic trisomy 22, cat-eye syndrome is related (partial trisomy 22)

Turner syndrome

Turner syndrome is a chromosomal condition that affects females, resulting from the complete or partial absence of one of the X chromosomes.

Chromosomal Also: 45,X, Monosomy X

Ciliopathy 10

Alström syndrome

Alström syndrome is a rare, inherited condition that causes progressive vision and hearing loss, alongside other health issues affecting various body systems.

Bardet-Biedl syndrome

Bardet-Biedl syndrome is a rare genetic condition that affects multiple parts of the body due to problems with structures called cilia.

Cranioectodermal dysplasia (Sensenbrenner)

Cranioectodermal dysplasia (Sensenbrenner syndrome) is a rare genetic disorder affecting the development of bones, hair, teeth, and other body systems.

Jeune asphyxiating thoracic dystrophy

Jeune asphyxiating thoracic dystrophy is a rare genetic disorder that primarily affects bone development, especially the rib cage, and can also impact other organs.

Joubert syndrome

Joubert syndrome is a rare genetic condition primarily affecting brain development, particularly a part of the brain called the cerebellum and the brainstem.

Joubert syndrome (AHI1)

Joubert syndrome is a rare genetic neurological condition characterised by a specific malformation of the cerebellum and brainstem.

Joubert syndrome (TMEM67)

Joubert syndrome (TMEM67) is a rare genetic condition primarily characterised by a specific malformation of the brainstem and cerebellum.

Mainzer-Saldino syndrome

Mainzer-Saldino syndrome is a rare genetic condition that primarily affects the kidneys, skeleton, and eyes.

Meckel-Gruber syndrome

Meckel-Gruber syndrome is a rare genetic disorder characterised by a specific set of developmental abnormalities, primarily affecting the brain, kidneys, and liver.

Oral-facial-digital syndrome type VI (Varadi-Papp)

Oral-facial-digital syndrome type VI (Varadi-Papp) is a rare genetic condition characterised by specific malformations of the mouth, face, and fingers or toes, often alongside neurological features.

Connective Tissue 24

Arterial tortuosity syndrome

Arterial tortuosity syndrome (ATS) is a rare genetic disorder that primarily affects connective tissue, causing blood vessels, especially arteries, to become abnormally twisted and elongated.

Congenital contractural arachnodactyly (Beals)

Congenital contractural arachnodactyly (CCA), also known as Beals syndrome, is a rare genetic condition affecting the body's connective tissues.

Cutis laxa type 1A

Cutis laxa type 1A is a rare genetic disorder characterised by loose, inelastic skin and affects connective tissue throughout the body.

Cutis laxa type 1B

Cutis laxa type 1B is a rare, inherited connective tissue disorder characterised by loose, inelastic skin and potential systemic involvement.

Cutis laxa type 2A

Cutis laxa type 2A is a rare genetic disorder affecting connective tissues, primarily characterised by loose, wrinkled skin.

Cutis laxa type 2B (de Barsy)

Cutis laxa type 2B, also known as de Barsy syndrome, is a rare genetic condition characterised by loose, wrinkled skin and a range of other developmental and neurological features.

Dupuytren contracture

Dupuytren contracture is a progressive fibroproliferative disorder of the palmar fascia that causes permanent bending of one or more fingers.

Polygenic / Complex

Ehlers-Danlos syndrome (arthrochalasia)

Ehlers-Danlos syndrome, arthrochalasia type (aEDS) is a rare genetic condition primarily affecting connective tissues, leading to notable joint looseness and skin fragility.

Ehlers-Danlos syndrome (classical)

Classical Ehlers-Danlos syndrome (cEDS) is a genetic disorder that affects the body's connective tissue, primarily impacting the skin, joints, and blood vessels.

Ehlers-Danlos syndrome (dermatosparaxis)

Ehlers-Danlos syndrome (dermatosparaxis) is a very rare, inherited connective tissue disorder characterised by extremely fragile skin and joint looseness.

Ehlers-Danlos syndrome (hypermobile type)

Ehlers-Danlos syndrome (hypermobile type) is a heritable connective tissue disorder characterised by generalised joint hypermobility, chronic musculoskeletal pain, and tissue fragility.

Ehlers-Danlos syndrome (kyphoscoliotic)

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare inherited condition that affects connective tissues throughout the body.

Ehlers-Danlos syndrome (musculocontractural)

Ehlers-Danlos syndrome (musculocontractural) is a rare inherited disorder affecting connective tissue, characterised by joint contractures present from birth, fragile skin, and distinctive facial features.

Ehlers-Danlos syndrome (myopathic)

Ehlers-Danlos syndrome (myopathic) is a rare inherited connective tissue disorder characterised by muscle weakness, joint hypermobility and distinctive skin features.

AD/AR

Ehlers-Danlos syndrome (periodontal)

Ehlers-Danlos syndrome (periodontal) is a rare inherited connective tissue disorder characterised by severe early-onset gum disease and joint hypermobility.

Ehlers-Danlos syndrome (spondylodysplastic)

Ehlers-Danlos syndrome (spondylodysplastic) is a rare inherited disorder affecting connective tissue throughout the body, characterised by skeletal abnormalities, joint hypermobility, and distinctive facial features.

Geroderma osteodysplastica

Geroderma osteodysplastica is a rare inherited condition primarily affecting connective tissues, leading to characteristic skin and bone changes.

Loeys-Dietz syndrome

Loeys-Dietz syndrome is a genetic condition that affects connective tissue, leading to a range of features including involvement of blood vessels and the skeleton.

Marfan syndrome

Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides strength and flexibility to many parts of the body.

AD Also: Marfan syndrome (neonatal)

Meester-Loeys syndrome

Meester-Loeys syndrome is a rare genetic condition that primarily affects the body's connective tissues.

XLR

Menke disease (occipital horn variant)

Menkes disease, occipital horn variant, is a rare genetic condition affecting copper transport, leading to a range of symptoms primarily impacting connective tissue.

XLR

Osteogenesis imperfecta (all types)

Osteogenesis Imperfecta (OI) is a group of genetic conditions characterised by fragile bones that break easily, often referred to as brittle bone disease.

AD/AR Also: Osteogenesis imperfecta type I, Osteogenesis imperfecta type II (lethal perinatal)

Peyronie disease

Peyronie disease is a connective tissue condition characterised by fibrous plaques forming in the penis, which can lead to curvature and other changes.

Polygenic / Complex

Vascular Ehlers-Danlos syndrome

Vascular Ehlers-Danlos syndrome (vEDS) is a genetic connective tissue disorder primarily affecting the integrity of blood vessels and internal organs.

Craniofacial 11

Apert syndrome

Apert syndrome is a genetic condition that affects how the skull, face, hands, and feet develop.

Branchiootorenal syndrome

Branchiootorenal (BOR) syndrome is a genetic condition characterised by a combination of kidney, ear, and neck abnormalities.

Carpenter syndrome

Carpenter syndrome is a rare genetic condition that primarily affects the development of the skull, fingers, and toes, and can also impact other body systems.

CHARGE syndrome

CHARGE syndrome is a complex genetic condition present from birth, affecting multiple body systems and developmental processes.

Cleft lip and/or palate (non-syndromic)

Non-syndromic cleft lip and/or palate is a common birth variation where the tissues forming the upper lip and/or roof of the mouth do not join completely during early foetal development.

Polygenic / Complex

Craniofrontonasal dysplasia

Craniofrontonasal dysplasia (CFND) is a rare genetic condition primarily affecting the development of the skull and face.

XLD

Craniosynostosis (Muenke)

Muenke syndrome is a genetic condition primarily characterised by premature fusion of certain skull bones, known as craniosynostosis.

Craniosynostosis (non-syndromic)

Non-syndromic craniosynostosis is a condition where one or more of the fibrous joints between skull bones (cranial sutures) close prematurely during infancy.

Polygenic / Complex

Crouzon syndrome

Crouzon syndrome is a genetic condition characterised by the premature fusion of certain skull bones (craniosynostosis) and facial abnormalities.

Oral-facial-digital syndrome type 1

Oral-facial-digital syndrome type 1 (OFD1) is a genetic condition primarily affecting the development of the face, mouth, and fingers and toes.

XLD

Pfeiffer syndrome

Pfeiffer syndrome is a genetic condition primarily affecting bone development, leading to characteristic features of the skull, face, hands, and feet.

Dermatogenetics 28

Alopecia areata

Alopecia areata is an autoimmune condition in which the body's immune system mistakenly attacks hair follicles, causing patchy hair loss on the scalp or other areas of the body.

Polygenic / Complex

Alopecia (male-pattern)

Male-pattern alopecia is a common type of hair loss affecting men, characterised by a receding hairline and thinning at the crown.

Polygenic / Complex

Atopic dermatitis

Atopic dermatitis is a chronic inflammatory skin condition characterised by recurrent itching, dryness, and inflamed skin patches.

Polygenic / Complex

Brooke-Spiegler syndrome

Brooke-Spiegler syndrome is an inherited condition characterised by the development of multiple benign skin tumours, particularly cylindromas and trichoepitheliomas.

CHILD syndrome

CHILD syndrome is a rare genetic condition that primarily affects the skin, heart, and limbs, typically appearing at birth.

XLD

Congenital melanocytic naevus (giant)

Congenital melanocytic naevus (giant) is a rare skin condition where a large, often dark, mole-like lesion is present at birth.

Somatic / Mosaic

Darier disease

Darier disease is an inherited skin disorder characterised by distinctive skin lesions and nail abnormalities.

Epidermal naevus syndrome

Epidermal naevus syndrome is a rare condition characterised by distinctive skin birthmarks alongside developmental features affecting the nervous system, skeleton, or other organs.

Somatic / Mosaic

Epidermolysis bullosa (dystrophic, recessive)

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genetic condition characterised by extremely fragile skin and mucous membranes that blister easily following minor friction or trauma.

Epidermolysis bullosa (junctional)

Junctional epidermolysis bullosa is a rare inherited disorder causing severe skin and mucosal fragility, leading to blistering with minimal trauma.

Epidermolysis bullosa simplex

Epidermolysis Bullosa Simplex (EBS) refers to a group of inherited genetic conditions that cause the skin to be very fragile and blister easily.

AD/AR

Epidermolytic ichthyosis

Epidermolytic ichthyosis is a rare genetic skin condition that makes the skin very fragile, leading to blistering and thickened, scaly areas.

Familial benign chronic pemphigus (Hailey-Hailey)

Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare inherited skin disorder characterised by recurrent blistering and raw areas in skin folds.

Familial hidradenitis suppurativa

Familial hidradenitis suppurativa is a genetic inflammatory skin condition characterised by painful, recurrent boils and abscesses.

Goltz syndrome (focal dermal hypoplasia)

Goltz syndrome, also known as focal dermal hypoplasia, is a rare genetic condition primarily characterised by abnormalities of the skin, skeleton, and eyes.

XLD

Griscelli syndrome type 3

Griscelli syndrome type 3 is a very rare genetic condition that primarily affects pigmentation, leading to partial albinism.

Harlequin ichthyosis

Harlequin ichthyosis is a very rare, severe genetic skin condition characterised by unusually thick, plate-like skin present at birth.

Incontinentia pigmenti

Incontinentia pigmenti is a rare genetic disorder that primarily affects the skin, often presenting with distinctive patterns of rashes, blisters, and hyperpigmentation.

XLD

Keloid susceptibility

Keloid susceptibility refers to an individual's increased genetic predisposition to forming keloids, a specific type of abnormal scar.

Polygenic / Complex

Lamellar ichthyosis

Lamellar ichthyosis is a genetic skin condition characterised by dry, scaling skin across most of the body.

Linear sebaceous naevus syndrome

Linear sebaceous naevus syndrome is a rare genetic condition primarily characterised by a distinctive skin lesion called a sebaceous naevus, often accompanied by other health concerns.

Somatic / Mosaic

Netherton syndrome

Netherton syndrome is a rare inherited condition primarily affecting the skin, hair, and immune system, leading to chronic inflammation and scaling.

Oculocutaneous albinism type 1

Oculocutaneous albinism type 1 (OCA1) is a genetic condition characterised by a reduction or complete absence of melanin pigment in the skin, hair, and eyes.

Oculocutaneous albinism type 2

Oculocutaneous albinism type 2 (OCA2) is a genetic disorder characterised by reduced melanin production, primarily affecting the skin, hair, and eyes.

Olmsted syndrome

Olmsted syndrome is a very rare genetic disorder characterised by progressive, severe thickening of the skin, particularly on the palms and soles.

AD/AR

Pachyonychia congenita

Pachyonychia congenita is a rare inherited skin condition primarily characterised by thickened nails and painful calluses.

Papillon-Lefèvre syndrome

Papillon-Lefèvre syndrome is a rare inherited condition primarily affecting the skin of the palms and soles, and leading to severe periodontitis.

X-linked ichthyosis (STS)

X-linked ichthyosis is an inherited skin condition characterised by dry, scaly skin, caused by deficiency of the steroid sulfatase enzyme.

XLR

Developmental 1

Neural tube defects

Neural tube defects (NTDs) are a group of birth defects where the brain, spinal cord, or their protective coverings do not fully close during early foetal development.

Polygenic / Complex

Endocrine 39

17-beta-HSD deficiency

17-beta-HSD deficiency is a rare genetic condition impacting the production of specific sex hormones, primarily affecting individuals with XY chromosomes.

5-alpha-reductase deficiency

5-alpha-reductase deficiency is a rare genetic condition that affects the development of external male sex characteristics before birth and during puberty.

Allan-Herndon-Dudley syndrome

Allan-Herndon-Dudley syndrome is a rare genetic condition that primarily affects brain development and muscle control, leading to severe intellectual disability and movement difficulties.

XLR

Carney complex type 1

Carney complex type 1 is a rare inherited condition characterised by the development of multiple benign tumours affecting endocrine glands, the heart, skin, and other tissues.

Central precocious puberty (MKRN3)

Central precocious puberty (CPP) is a condition where secondary sexual characteristics develop earlier than the typical age.

AD (imprinted)

Congenital adrenal hyperplasia (11-hydroxylase)

Congenital adrenal hyperplasia (11-hydroxylase deficiency) is a genetic condition that impacts hormone production in the adrenal glands.

Congenital adrenal hyperplasia (17-hydroxylase)

Congenital adrenal hyperplasia due to 17-hydroxylase deficiency is a rare genetic condition that impairs steroid hormone production in the adrenal glands and gonads.

Congenital adrenal hyperplasia (21-hydroxylase)

Congenital adrenal hyperplasia (21-hydroxylase deficiency) is a genetic disorder that affects the adrenal glands' ability to produce certain vital hormones.

Congenital adrenal hypoplasia (X-linked)

X-linked congenital adrenal hypoplasia is a rare inherited endocrine disorder where the adrenal glands fail to develop properly, leading to life-threatening hormone deficiencies.

XLR

Congenital hyperinsulinism (diffuse, KATP)

Congenital hyperinsulinism (diffuse, KATP) is a rare genetic disorder where the pancreas produces too much insulin, leading to dangerously low blood sugar levels.

Congenital hypothyroidism (dyshormonogenesis)

Congenital hypothyroidism (dyshormonogenesis) is a condition present from birth where the thyroid gland is unable to produce sufficient thyroid hormones due to defects in hormone synthesis.

Congenital lipodystrophy type 1

Congenital lipodystrophy type 1 is a rare genetic disorder marked by a near total absence of adipose (fat) tissue from birth.

Congenital lipodystrophy type 2

Congenital lipodystrophy type 2 (CL2) is a rare genetic condition characterised by near-complete or total absence of fat tissue from birth or early infancy.

Familial glucocorticoid deficiency

Familial glucocorticoid deficiency (FGD) is a rare inherited disorder where the adrenal glands cannot produce enough cortisol.

Familial hyperaldosteronism type I (GRA)

Familial hyperaldosteronism type I is an inherited condition causing the adrenal glands to produce excessive aldosterone, leading to high blood pressure.

Familial hyperaldosteronism type III

Familial hyperaldosteronism type III (FH-III) is a rare inherited condition characterised by the adrenal glands producing too much of the hormone aldosterone.

Familial hypocalciuric hypercalcaemia

Familial hypocalciuric hypercalcaemia (FHH) is a genetic condition characterised by persistently high levels of calcium in the blood (hypercalcaemia) and low levels of calcium in the urine (hypocalciuria).

Familial hypocalciuric hypercalcaemia type 2

Familial hypocalciuric hypercalcaemia type 2 (FHH2) is a rare genetic condition characterised by persistently elevated calcium levels in the blood, often alongside low calcium excretion in the urine.

Familial isolated pituitary adenoma

Familial Isolated Pituitary Adenoma (FIPA) is a genetic condition characterised by a predisposition to developing benign tumours of the pituitary gland.

Growth hormone insensitivity (Laron)

Growth hormone insensitivity (Laron) is a rare genetic disorder where the body cannot properly respond to growth hormone, leading to significantly reduced stature.

Isolated growth hormone deficiency (type II)

Isolated growth hormone deficiency type II is a genetic condition characterised by reduced or absent production of growth hormone, typically leading to short stature.

Isolated hypogonadotropic hypogonadism (GNRHR)

Isolated Hypogonadotropic Hypogonadism (GNRHR) is a genetic condition characterised by a deficiency in hormones vital for normal sexual development and reproductive function.

Kallmann syndrome (X-linked)

Kallmann syndrome (X-linked) is a genetic condition characterised by a combination of hypogonadotropic hypogonadism and an impaired sense of smell (anosmia or hyposmia).

XLR

Leptin deficiency

Leptin deficiency is a very rare genetic condition characterised by severe early-onset obesity due to a lack of leptin, a hormone crucial for regulating appetite and metabolism.

Leptin receptor deficiency

Leptin receptor deficiency is a rare genetic condition that affects the body's ability to respond to leptin, a hormone important for regulating appetite and metabolism.

Lipoid congenital adrenal hyperplasia

Lipoid congenital adrenal hyperplasia is a rare inherited condition that disrupts the body's ability to produce essential steroid hormones.

Maturity-onset diabetes of the young type 5

Maturity-onset diabetes of the young type 5 (MODY5) is a rare, inherited form of diabetes caused by genetic changes in the *HNF1B* gene, primarily affecting kidney development and function, alongside pancreatic insulin production.

MC4R monogenic obesity

MC4R monogenic obesity is a genetic condition characterised by severe obesity that typically begins in childhood, resulting from changes in the *MC4R* gene.

McCune-Albright syndrome

McCune-Albright syndrome is a rare genetic condition that primarily affects the bones, skin, and hormone-producing glands.

Mitchell-Riley syndrome

Mitchell-Riley syndrome is a very rare genetic condition present from birth, primarily affecting the pancreas and digestive system.

MODY1 (HNF4A diabetes)

MODY1, also known as HNF4A diabetes, is a rare type of monogenic diabetes caused by changes in the HNF4A gene, affecting insulin production and glucose regulation.

MODY2 (GCK diabetes)

MODY2, also known as GCK diabetes, is a monogenic form of diabetes caused by changes in the GCK gene, leading to mildly raised blood glucose levels from birth.

MODY3 (HNF1A diabetes)

MODY3 (Maturity-Onset Diabetes of the Young type 3) is a form of diabetes caused by genetic changes in the HNF1A gene, primarily affecting the pancreas's ability to produce insulin.

Monogenic obesity (PCSK1)

Monogenic obesity due to PCSK1 variants is a rare genetic condition characterised by severe early-onset obesity and impaired hormone processing.

Multiple endocrine neoplasia type 1

Multiple Endocrine Neoplasia Type 1 (MEN1) is a genetic condition that predisposes individuals to developing tumours in various endocrine (hormone-producing) glands.

Multiple endocrine neoplasia type 2A

Multiple Endocrine Neoplasia Type 2A (MEN2A) is a genetic condition that significantly increases the risk of developing certain tumours in the endocrine glands.

Multiple endocrine neoplasia type 2B

Multiple Endocrine Neoplasia type 2B (MEN2B) is a genetic condition that primarily affects the endocrine system, leading to the development of specific tumours and other physical characteristics.

Neonatal diabetes (KCNJ11)

Neonatal diabetes is a rare genetic condition characterised by high blood sugar (hyperglycaemia) appearing within the first six months of life.

Neonatal severe hyperparathyroidism

Neonatal severe hyperparathyroidism is a very rare genetic condition characterised by extremely high calcium levels in the blood, typically presenting shortly after birth.

GI 1

Hirschsprung disease

Hirschsprung disease is a condition present from birth where nerve cells are absent from a section of the large bowel, making it difficult for stools to pass through.

Polygenic / Complex

Growth 2

3-M syndrome

3-M syndrome is a rare genetic condition primarily characterised by severe pre- and postnatal growth restriction, leading to short stature.

Kagami-Ogata syndrome

Kagami-Ogata syndrome is a rare genetic condition caused by an abnormality in chromosome 14, leading to specific developmental and growth challenges.

Imprinted

Haematology 39

Alpha-thalassaemia (Hb Bart's hydrops)

Alpha-thalassaemia (Hb Bart's hydrops) is a severe, inherited blood disorder characterised by the complete absence of alpha-globin production.

Antithrombin deficiency

Antithrombin deficiency is an inherited disorder characterised by reduced levels or impaired function of antithrombin, a protein that helps regulate blood clotting.

Bernard-Soulier syndrome

Bernard-Soulier syndrome is a rare inherited bleeding disorder characterised by abnormally large and dysfunctional platelets, leading to difficulties with blood clotting.

Beta-thalassaemia major

Beta-thalassaemia major is a severe inherited blood disorder characterised by the body's inability to produce sufficient adult haemoglobin.

Congenital afibrinogenaemia

Congenital afibrinogenaemia is a rare inherited bleeding disorder characterised by a complete absence of fibrinogen in the blood.

Congenital amegakaryocytic thrombocytopenia

Congenital amegakaryocytic thrombocytopenia (CAMT) is a very rare inherited condition that causes the bone marrow to fail to produce platelets, and eventually other blood cells.

Congenital dyserythropoietic anaemia type II

Congenital dyserythropoietic anaemia type II (CDAII) is a rare, inherited blood disorder characterised by ineffective red blood cell production.

Congenital protein C deficiency (homozygous)

Congenital protein C deficiency is a rare genetic condition where the body does not produce enough functional protein C, leading to severe and life-threatening blood clots.

Congenital protein S deficiency

Congenital protein S deficiency is a genetic condition that raises an individual's likelihood of forming blood clots.

Congenital TTP (Upshaw-Schulman)

Congenital Thrombotic Thrombocytopenic Purpura (TTP) is a rare genetic blood disorder characterised by the formation of small blood clots throughout the body.

Dehydrated hereditary stomatocytosis

Dehydrated hereditary stomatocytosis is a rare inherited red blood cell disorder where cells lose excess water, becoming dehydrated and prone to premature breakdown.

Diamond-Blackfan anaemia

Diamond-Blackfan anaemia is a rare inherited blood disorder characterised by the bone marrow's failure to produce sufficient red blood cells.

Dyskeratosis congenita (autosomal dominant)

Dyskeratosis congenita (autosomal dominant) is a rare inherited condition primarily affecting the bone marrow, skin, and nails, caused by issues with telomere maintenance.

Dyskeratosis congenita (autosomal recessive)

Dyskeratosis congenita (autosomal recessive) is a rare inherited disorder affecting telomere maintenance, leading to progressive bone marrow failure and increased cancer susceptibility.

Dyskeratosis congenita (X-linked)

Dyskeratosis congenita (X-linked) is a rare inherited disorder primarily affecting the skin, nails, and bone marrow, caused by genetic changes in the DKC1 gene.

XLR

Factor VII deficiency

Factor VII deficiency is an inherited bleeding disorder caused by a reduced amount or activity of clotting factor VII in the blood.

Factor V Leiden

Factor V Leiden is a common genetic variation in the F5 gene that increases an individual's risk of developing blood clots.

Factor X deficiency

Factor X deficiency is a rare, inherited bleeding disorder caused by a shortage or malfunction of coagulation factor X, a protein essential for normal blood clotting.

Factor XI deficiency

Factor XI deficiency is an inherited bleeding disorder where blood does not clot as it should due to insufficient or faulty Factor XI protein.

Factor XIII deficiency

Factor XIII deficiency is a rare inherited bleeding disorder characterised by impaired blood clot stabilisation.

Familial platelet disorder with AML predisposition

Familial platelet disorder with AML predisposition is a genetic condition characterised by low platelet counts, impaired platelet function, and an increased risk of developing acute myeloid leukaemia (AML).

Fanconi anaemia

Fanconi anaemia is a rare, inherited disorder primarily affecting the bone marrow, leading to reduced production of blood cells.

G6PD deficiency

G6PD deficiency is an inherited condition affecting red blood cells, where a lack of a specific enzyme can lead to their premature breakdown.

XLR

Glanzmann thrombasthenia

Glanzmann thrombasthenia is a rare inherited bleeding disorder characterised by abnormal platelet function, which impairs normal blood clotting.

Gray platelet syndrome

Gray platelet syndrome is a rare, inherited bleeding disorder characterised by unusually large, grey-appearing platelets and a lifelong tendency towards bruising and bleeding.

Haemophilia A

Haemophilia A is an inherited bleeding disorder resulting from insufficient or faulty clotting factor VIII, which is essential for normal blood coagulation.

XLR

Haemophilia B

Haemophilia B is a genetic bleeding disorder where the blood does not clot properly due to a deficiency in coagulation factor IX.

XLR

HbC disease

HbC disease is a genetic blood disorder characterised by the presence of an abnormal haemoglobin protein, haemoglobin C (HbC), within red blood cells.

Hereditary elliptocytosis

Hereditary elliptocytosis is an inherited blood disorder characterised by red blood cells that are oval or elliptical in shape rather than the normal round disc shape.

Hereditary persistence of fetal haemoglobin

Hereditary persistence of foetal haemoglobin (HPFH) is a genetic condition where the body continues to produce foetal haemoglobin after infancy.

AD/AR

Hereditary spherocytosis

Hereditary spherocytosis is a genetic blood disorder where red blood cells are abnormally sphere-shaped, rather than disc-shaped.

Hereditary spherocytosis (severe AR)

Hereditary spherocytosis (severe autosomal recessive, AR) is a genetic condition affecting red blood cells, making them fragile and prone to early destruction.

Hereditary stomatocytosis (overhydrated)

Hereditary stomatocytosis (overhydrated) is a rare inherited blood disorder characterised by abnormally shaped red blood cells that contain too much water.

Iron-refractory iron deficiency anaemia (IRIDA)

Iron-Refractory Iron Deficiency Anaemia (IRIDA) is a rare inherited condition that causes persistent iron deficiency and anaemia.

MYH9-related disorders

Primary familial erythrocytosis type 2

Primary familial erythrocytosis type 2 is a rare inherited blood disorder characterised by persistently elevated red blood cell counts due to pathogenic variants in the VHL gene.

Sickle cell disease

Sickle cell disease is an inherited blood disorder where red blood cells become rigid and crescent-shaped, blocking small blood vessels and reducing oxygen delivery to tissues.

Sickle cell trait

Sickle cell trait is a carrier state where an individual has inherited one pathogenic variant in the HBB gene alongside one typical copy, usually causing no symptoms but with implications for future children.

AR carrier

Von Willebrand disease

Von Willebrand disease (VWD) is a common inherited bleeding disorder caused by a deficiency or dysfunction of von Willebrand factor (VWF), a protein essential for blood clotting.

AD Also: Von Willebrand disease type 1, Von Willebrand disease type 2

Hearing Loss 12

Age-related hearing loss

Polygenic / Complex

Arts syndrome

Arts syndrome is a rare, inherited condition characterised by severe neurological problems, profound hearing loss, and intellectual disability.

XLR

Auditory neuropathy (OTOF)

Auditory neuropathy caused by OTOF variants is an inherited form of hearing loss where sound signals fail to travel properly from the inner ear to the brain.

Deafness (GJB2-related, mild/moderate)

AD/AR

DFNA2 (progressive, KCNQ4)

DFNA2 is a genetic form of hearing loss that typically becomes noticeable in early adulthood and progressively worsens over time.

DFNA6/14/38 (low-frequency, WFS1)

DFNA6/14/38 is a genetic condition characterised by sensorineural hearing loss that predominantly affects the ability to perceive low-frequency sounds.

DFNA9 (progressive, COCH)

DFNA9 is a progressive form of inherited hearing loss caused by pathogenic variants in the COCH gene, typically beginning in adulthood.

DFNB4/Enlarged vestibular aqueduct

DFNB4/Enlarged vestibular aqueduct is an inherited condition causing progressive hearing loss, typically beginning in early childhood, due to structural abnormalities in the inner ear.

Jervell and Lange-Nielsen syndrome

Jervell and Lange-Nielsen syndrome (JLNS) is a rare genetic disorder characterised by profound sensorineural hearing loss and a heart rhythm condition known as long QT syndrome.

Mohr-Tranebjaerg syndrome

Mohr-Tranebjaerg syndrome is a rare, progressive genetic condition primarily affecting the nervous system, leading to hearing loss, movement difficulties, and visual problems.

XLR

Otosclerosis

Otosclerosis is a hearing condition caused by abnormal bone remodelling in the middle ear, particularly affecting the stapes bone.

Polygenic / Complex

Pendred syndrome

Pendred syndrome is a genetic condition typically characterised by early-onset hearing loss, often alongside an enlarged thyroid gland (goitre) in some individuals.

Hepatic & GI 19

Alagille syndrome

Alagille syndrome is a genetic condition that primarily affects the liver, but can also impact the heart, skeleton, eyes, and kidneys.

Alpha-1 antitrypsin deficiency (liver)

Alpha-1 antitrypsin deficiency (liver) is a genetic disorder caused by a faulty *SERPINA1* gene, leading to reduced levels of alpha-1 antitrypsin protein and potential liver damage.

Autoimmune hepatitis (genetic risk)

Autoimmune hepatitis is a chronic condition where the body's immune system mistakenly attacks liver cells, causing inflammation and damage.

Polygenic / Complex

Bile acid conjugation defect

Bile acid conjugation defect is a rare inherited condition that disrupts the normal processing of bile acids in the liver.

Congenital chloride diarrhoea

Congenital chloride diarrhoea is a rare inherited disorder that primarily affects the gut, leading to severe, lifelong watery diarrhoea.

Congenital sodium diarrhoea

Congenital sodium diarrhoea is a rare inherited bowel disorder characterised by severe watery diarrhoea from birth, caused by defective sodium and chloride absorption in the intestines.

Congenital sucrase-isomaltase deficiency

Congenital sucrase-isomaltase deficiency (CSID) is a hereditary condition where the small intestine cannot properly break down specific complex sugars, particularly sucrose and maltose.

Crigler-Najjar syndrome type I

Crigler-Najjar syndrome type I is a rare genetic condition characterised by severe, lifelong jaundice originating from birth.

Crigler-Najjar syndrome type II

Crigler-Najjar syndrome type II (CNS2) is a rare, inherited liver condition that impairs the body's ability to process bilirubin, a yellow waste product in the blood.

Dubin-Johnson syndrome

Dubin-Johnson syndrome is a rare, inherited liver disorder characterised by recurrent, mild jaundice.

Ferroportin disease

Ferroportin disease is an inherited disorder that leads to an accumulation of iron in the body's cells.

Gilbert syndrome

Gilbert syndrome is a common, generally harmless liver condition where the body has difficulty processing bilirubin, a yellow pigment produced during red blood cell breakdown.

Hereditary haemochromatosis (HFE)

Hereditary haemochromatosis (HFE) is a genetic condition characterised by the body absorbing too much iron from the diet, leading to iron overload.

AR Also: Haemochromatosis (H63D homozygous), Hereditary haemochromatosis type 2A (juvenile)

Hereditary pancreatitis

Hereditary pancreatitis is a rare genetic condition characterised by recurrent episodes of acute pancreatitis, which can progress to chronic pancreatitis.

Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is a rare genetic condition primarily affecting the pancreas, leading to impaired digestion and other developmental issues.

Microvillus inclusion disease

Microvillus inclusion disease is a rare genetic disorder that affects the lining of the small intestine, leading to severe malabsorption.

NAFLD / MASLD

Non-alcoholic fatty liver disease (NAFLD), recently re-termed metabolic dysfunction-associated steatotic liver disease (MASLD), is a common condition characterised by the build-up of excess fat within liver cells.

Polygenic / Complex

Tufting enteropathy

Tufting enteropathy is a rare, inherited condition that primarily affects the small intestine, leading to severe, chronic diarrhoea starting in infancy.

Wilson disease

Wilson disease is a genetic disorder that causes excessive copper to accumulate in the body's tissues, particularly in the liver, brain, and eyes.

IEM 102

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA lyase deficiency is an inherited metabolic disorder where the body cannot properly break down certain proteins and fats.

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited metabolic disorder where the body cannot properly process the amino acid leucine.

Abetalipoproteinaemia

Abetalipoproteinaemia is a rare inherited condition that affects the body's ability to absorb dietary fats and fat-soluble vitamins.

Acrodermatitis enteropathica

Acrodermatitis enteropathica is a rare inherited disorder characterised by the body's inability to absorb adequate zinc from the diet.

Acute intermittent porphyria

Acute intermittent porphyria (AIP) is a rare, inherited condition that affects the nervous system and can cause severe attacks of neurological symptoms.

Adult polyglucosan body disease

Adult polyglucosan body disease (APBD) is a rare, inherited neurological disorder resulting from the abnormal storage of glycogen in various body tissues.

Alkaptonuria

Alkaptonuria is a rare inherited metabolic condition where the body cannot properly break down certain amino acids, leading to a build-up of homogentisic acid.

Alpha-mannosidosis

Alpha-mannosidosis is a rare inherited lysosomal storage disorder where the body cannot properly break down specific sugar molecules.

Argininaemia

Argininaemia is an inherited metabolic disorder where the body cannot properly break down the amino acid arginine, leading to its accumulation.

Argininosuccinic aciduria

Argininosuccinic aciduria is an inherited metabolic condition where the body cannot properly process ammonia, a toxic waste product.

Aromatic L-amino acid decarboxylase deficiency

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited condition affecting the nervous system, caused by an enzyme defect.

Aspartylglucosaminuria

Aspartylglucosaminuria is a rare, inherited metabolic disorder characterised by the body's inability to properly break down certain complex sugars (glycoproteins) within cells.

Batten disease (CLN1, infantile)

Infantile CLN1 Batten disease is a rare inherited neurodegenerative condition caused by pathogenic variants in the PPT1 gene, leading to progressive loss of neurological function beginning in early childhood.

Batten disease (CLN5, late infantile variant)

Batten disease (CLN5, late infantile variant) is a rare, inherited neurological disorder characterised by nervous system degeneration.

Batten disease (CLN6)

Batten disease (CLN6) is a rare, inherited neurodegenerative disorder primarily affecting the nervous system, leading to progressive decline in various abilities.

Batten disease (CLN7 / MFSD8)

Batten disease (CLN7) is a rare, inherited neurological disorder that primarily affects the brain and eyes, leading to progressive degeneration.

Batten disease (CLN8)

Batten disease (CLN8) is a rare, inherited neurodegenerative disorder characterised by progressive neurological decline.

Beta-ketothiolase deficiency

Beta-ketothiolase deficiency is a rare inherited metabolic disorder affecting the body's ability to process specific fats and proteins for energy.

Biotinidase deficiency

Biotinidase deficiency is an inherited metabolic disorder where the body cannot properly recycle biotin, a vital vitamin.

AR Also: Biotinidase deficiency (profound), Biotinidase deficiency (partial)

Biotin-thiamine-responsive basal ganglia disease

Biotin-thiamine-responsive basal ganglia disease is a rare inherited neurological disorder caused by changes in the SLC19A3 gene, affecting brain function.

Canavan disease

Canavan disease is a rare, inherited neurological disorder characterised by the progressive degeneration of nerve cells in the brain, affecting brain development.

Carbamoyl phosphate synthetase I deficiency

Carbamoyl phosphate synthetase I deficiency is a rare inherited metabolic condition where the body cannot properly remove ammonia.

Carnitine-acylcarnitine translocase deficiency

Carnitine-acylcarnitine translocase (CACT) deficiency is a rare inherited metabolic disorder caused by issues with fatty acid transport into mitochondria.

Carnitine palmitoyltransferase II deficiency

Carnitine Palmitoyltransferase II (CPT2) deficiency is a genetic condition that affects the body's ability to convert certain fats into energy.

Cerebral creatine deficiency (AGAT)

Cerebral creatine deficiency (AGAT) is a rare inherited metabolic condition where the body cannot produce enough creatine due to changes in the GATM gene.

Cerebral creatine deficiency (GAMT)

Cerebral creatine deficiency due to GAMT variants is a genetic condition that affects the brain's energy supply, primarily impacting development and movement.

Cerebral creatine deficiency (SLC6A8)

Cerebral creatine deficiency (SLC6A8) is an inherited metabolic condition primarily affecting the brain's creatine levels.

XLR

Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disorder causing cholesterol accumulation in tissues.

Citrullinaemia type I

Citrullinaemia type I is a rare inherited metabolic disorder that affects the body's ability to remove ammonia, a toxic waste product, from the blood.

Citrullinaemia type II (citrin deficiency)

Citrullinaemia type II, also known as citrin deficiency, is an inherited metabolic disorder affecting how the body processes certain amino acids, primarily impacting the liver and brain.

Classical galactosaemia

Classical galactosaemia is a rare, inherited metabolic condition where the body cannot properly process galactose, a sugar found in milk and dairy products.

Congenital disorder of glycosylation Ia

Congenital disorder of glycosylation Ia (CDG-Ia), also known as PMM2-CDG, is a genetic condition that affects the proper formation of sugar chains on proteins and lipids, impacting multiple body systems.

Congenital erythropoietic porphyria

Congenital erythropoietic porphyria (CEP), also known as Günther's disease, is a rare genetic disorder caused by a deficiency in an enzyme involved in haem production.

Congenital lactic acidosis (pyruvate carboxylase)

Congenital Lactic Acidosis (Pyruvate Carboxylase Deficiency) is a rare inherited metabolic disorder characterised by the accumulation of lactic acid in the body.

Congenital lactic acidosis (pyruvate dehydrogenase)

Congenital lactic acidosis (pyruvate dehydrogenase) is a rare genetic condition impacting energy production, leading to a build-up of lactic acid in the body.

XLR/AR

D-2-hydroxyglutaric aciduria

D-2-hydroxyglutaric aciduria is a rare inherited metabolic disorder characterised by the accumulation of D-2-hydroxyglutarate in the body.

AR/AD

D-bifunctional protein deficiency

D-bifunctional protein deficiency is a rare, inherited metabolic disorder caused by issues with cellular structures called peroxisomes.

Debrancher deficiency (GSD IIIa)

Debrancher deficiency, also known as Glycogen Storage Disease Type IIIa (GSD IIIa), is a rare inherited metabolic condition where the body cannot properly break down a complex form of sugar called glycogen.

Dihydropteridine reductase deficiency

Dihydropteridine reductase (DHPR) deficiency is a rare inherited metabolic disorder that impacts the body's ability to produce important brain chemicals.

Dopamine beta-hydroxylase deficiency

Dopamine beta-hydroxylase deficiency is a rare genetic condition characterised by an inability to convert dopamine into noradrenaline.

Erythropoietic protoporphyria

Erythropoietic protoporphyria is an inherited metabolic disorder characterised by severe photosensitivity resulting from the accumulation of protoporphyrin IX in red blood cells and plasma.

Fabry disease

Fabry disease is a rare genetic condition where a specific enzyme deficiency leads to the build-up of fatty substances in cells throughout the body.

XLR

Familial hypobetalipoproteinaemia

Familial hypobetalipoproteinaemia is an inherited metabolic disorder characterised by abnormally low levels of certain fats, including LDL-cholesterol, in the blood.

Farber disease

Farber disease is a very rare inherited condition characterised by a deficiency of the acid ceramidase enzyme, leading to ceramide accumulation in cells.

Fructose-1,6-bisphosphatase deficiency

Fructose-1,6-bisphosphatase deficiency is a rare inherited metabolic condition where the body cannot properly make glucose from certain non-carbohydrate sources.

Fucosidosis

Fucosidosis is a rare, inherited metabolic condition characterised by the body's inability to properly break down and recycle certain sugar molecules.

Galactosialidosis

Galactosialidosis is a rare inherited metabolic disorder characterised by the body's inability to properly break down certain complex sugars and proteins.

Gaucher disease type 1

Gaucher disease type 1 is an inherited condition that affects the body's ability to break down a fatty substance called glucocerebroside.

Gaucher disease type 2 (acute neuronopathic)

Gaucher disease type 2 is a rare, severe inherited metabolic condition caused by a deficiency of the glucocerebrosidase enzyme.

Gaucher disease type 3 (chronic neuronopathic)

Gaucher disease type 3 is a rare inherited condition where a specific enzyme deficiency causes fatty substances to accumulate in various organs, including the brain.

GLUT1 deficiency syndrome

GLUT1 deficiency syndrome is a genetic condition that affects how the brain uses glucose, its primary energy source.

Glutaric aciduria type 1

Glutaric aciduria type 1 (GA1) is an inherited metabolic condition where the body cannot properly break down specific amino acids.

Glutaric aciduria type II (riboflavin-responsive)

Glutaric aciduria type II (riboflavin-responsive) is an inherited metabolic disorder that affects the body's ability to break down certain fats and proteins.

Glycogen storage disease type Ia

Glycogen Storage Disease Type Ia (GSD Ia) is a rare inherited metabolic condition where the body cannot properly break down glycogen into glucose, primarily affecting the liver and kidneys.

Glycogen storage disease type Ib

Glycogen Storage Disease Type Ib (GSD Ib) is a genetic condition that affects the body's ability to convert stored glycogen into glucose, leading to problems with blood sugar regulation.

GM1 gangliosidosis

GM1 gangliosidosis is a rare inherited metabolic disorder that causes harmful accumulation of fatty substances in cells, primarily affecting the brain and other organs.

GM2 gangliosidosis (AB variant)

GM2 gangliosidosis (AB variant) is a very rare inherited metabolic disorder where harmful fatty substances accumulate in nerve cells.

GSD VII (Tarui disease)

Glycogen Storage Disease Type VII (GSD VII), also known as Tarui disease, is a rare genetic condition that impairs the body's ability to break down glycogen for energy in muscle cells.

GSD V (McArdle disease)

GSD V (McArdle disease) is a genetic condition where muscles cannot properly break down glycogen for energy.

GTP cyclohydrolase deficiency (Segawa disease)

GTP cyclohydrolase deficiency, also known as Segawa disease, is a rare genetic condition affecting the nervous system, primarily causing a type of dystonia.

Hereditary coproporphyria

Hereditary coproporphyria (HCP) is a rare inherited metabolic disorder characterised by acute neurovisceral attacks.

Hereditary fructose intolerance

Hereditary fructose intolerance (HFI) is a rare genetic metabolic disorder affecting the body's ability to break down fructose.

Hereditary tyrosinaemia type I

Hereditary Tyrosinaemia Type I is a rare genetic disorder where the body cannot properly break down the amino acid tyrosine.

HHH syndrome

HHH syndrome is a rare inherited metabolic disorder affecting the body's ability to process and remove ammonia, a waste product.

Holocarboxylase synthetase deficiency

Holocarboxylase synthetase deficiency is a rare inherited metabolic disorder where the body cannot properly use biotin due to a genetic change.

Homocystinuria (classical)

Homocystinuria (classical) is an inherited metabolic disorder where the body cannot properly break down certain amino acids, leading to a build-up of harmful substances.

Hunter syndrome (MPS II)

Hunter syndrome (MPS II) is a rare, inherited metabolic disorder caused by the body's inability to break down certain complex sugars, leading to their build-up in cells.

XLR

I-cell disease (mucolipidosis II)

I-cell disease, also known as mucolipidosis II, is a rare inherited disorder where the body's cells cannot properly break down and recycle waste products.

Infantile free sialic acid storage disease

Infantile free sialic acid storage disease is a rare, inherited metabolic disorder characterised by the accumulation of free sialic acid in the body's lysosomes.

Isovaleric acidaemia

Isovaleric acidaemia is a rare, inherited metabolic condition that impairs the body's ability to process a specific amino acid called leucine.

Krabbe disease

Krabbe disease is a rare, inherited neurological disorder caused by a deficiency in the GALC enzyme, leading to progressive damage to the nervous system.

L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria is a rare inherited metabolic condition where a specific organic acid, L-2-hydroxyglutaric acid, builds up in the body, primarily affecting brain function.

Lecithin-cholesterol acyltransferase deficiency

Lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare inherited condition that disrupts how the body processes cholesterol and other fats.

Lesch-Nyhan syndrome

Lesch-Nyhan syndrome is a rare inherited metabolic disorder that affects the nervous system and the body's ability to process a substance called purines.

XLR

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is an inherited metabolic disorder that affects the body's ability to break down certain fats for energy.

Lysinuric protein intolerance

Lysinuric protein intolerance (LPI) is a rare inherited metabolic condition where the body cannot properly transport specific amino acids, particularly lysine, arginine, and ornithine.

Maple syrup urine disease

Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder that affects the body's ability to process specific amino acids.

MCADD (atypical)

Atypical medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that impairs the body's ability to break down certain fats for energy.

Menkes disease

Menkes disease is a rare, inherited disorder that affects how the body processes and distributes copper, a vital mineral.

XLR

Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is a rare genetic condition that causes progressive damage to the nervous system due to the accumulation of fatty substances.

Methylmalonic acidaemia (MUT)

Methylmalonic acidaemia (MUT) is a rare inherited metabolic disorder where the body cannot properly process specific amino acids and fats, leading to a build-up of harmful substances.

Mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein deficiency is a rare inherited metabolic disorder that affects the body's ability to break down certain fats for energy.

Molybdenum cofactor deficiency

Molybdenum cofactor deficiency is a rare, inherited metabolic disorder that prevents the body from producing a vital molecule called molybdenum cofactor.

MTHFR C677T (homozygous)

MTHFR C677T (homozygous) refers to having two copies of a specific genetic variant in the MTHFR gene, affecting folate processing.

AR variant

Mucolipidosis IV

Mucolipidosis IV is a rare genetic condition that affects the body's ability to process and recycle certain substances within cells, particularly in structures called lysosomes.

Mucopolysaccharidosis type I (Hurler)

Mucopolysaccharidosis type I (Hurler syndrome) is a rare genetic condition caused by a deficiency in an enzyme needed to break down complex sugar molecules called glycosaminoglycans.

Mucopolysaccharidosis type III (Sanfilippo)

Mucopolysaccharidosis type III (Sanfilippo syndrome) is a genetic disorder affecting metabolism, leading to progressive neurological deterioration.

Mucopolysaccharidosis type IVA (Morquio A)

Morquio A (Mucopolysaccharidosis type IVA) is a rare inherited metabolic disorder characterised by the body's inability to properly break down specific complex sugar molecules, leading to their accumulation.

Mucopolysaccharidosis type VI (Maroteaux-Lamy)

Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare inherited lysosomal storage disorder affecting the body's ability to break down certain complex sugars.

Multiple sulfatase deficiency

Multiple sulfatase deficiency (MSD) is a rare, inherited metabolic condition affecting the function of several crucial enzymes called sulfatases.

N-acetylglutamate synthase deficiency

N-acetylglutamate synthase (NAGS) deficiency is a rare inherited metabolic disorder that affects the body's ability to process and remove excess nitrogen.

Neuronal ceroid lipofuscinosis 2 (CLN2)

Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare, inherited neurodegenerative disorder primarily affecting the nervous system.

Neuronal ceroid lipofuscinosis 3 (Batten, CLN3)

Neuronal ceroid lipofuscinosis type 3 (NCL3), also known as Batten disease, is a rare inherited condition that primarily affects the nervous system.

Niemann-Pick disease type A

Niemann-Pick disease type A is a rare, inherited metabolic disorder characterised by the toxic accumulation of a fatty substance called sphingomyelin within cells.

Niemann-Pick disease type B

Niemann-Pick disease type B is a rare inherited metabolic disorder characterised by the accumulation of a fatty substance called sphingomyelin in various organs.

Niemann-Pick disease type C

Niemann-Pick disease type C (NPC) is a rare genetic condition where the body cannot properly transport cholesterol and other fats inside cells.

AR Also: Niemann-Pick type C (adult-onset)

Nonketotic hyperglycinaemia

Nonketotic hyperglycinaemia (NKH) is a rare inherited metabolic disorder caused by the body's inability to break down the amino acid glycine.

Ornithine transcarbamylase deficiency

Ornithine transcarbamylase deficiency (OTC deficiency) is an inherited metabolic disorder where the body cannot properly remove ammonia, a toxic waste product, from the blood.

XLR

Phenylketonuria

Phenylketonuria (PKU) is an inherited metabolic disorder where the body cannot properly break down an amino acid called phenylalanine.

Pompe disease

Pompe disease is a rare genetic condition that affects the body's ability to break down a complex sugar called glycogen, leading to its harmful build-up in cells, particularly muscle cells.

AR Also: Pompe disease (infantile), Pompe disease (late-onset)

Tay-Sachs disease

Tay-Sachs disease is an inherited metabolic disorder where harmful fatty substances accumulate in nerve cells, leading to progressive neurological damage.

AR Also: Late-onset Tay-Sachs disease

Variegate porphyria

Variegate porphyria is an inherited metabolic disorder characterised by acute neurological attacks, skin fragility, and sensitivity to light.

Immunology 30

Activated PI3K delta syndrome (APDS)

Activated PI3K delta syndrome (APDS) is a rare primary immunodeficiency characterised by immune dysregulation due to overactivity of the PI3Kδ pathway.

ALPS type Ia

ALPS type Ia is a rare inherited immune system disorder characterised by an inability of certain immune cells to die off as they should, leading to their accumulation.

APECED / APS type 1

APECED, or Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, is a rare inherited condition primarily characterised by the immune system mistakenly attacking the body's own tissues.

Chediak-Higashi-like (LYST)

Chediak-Higashi syndrome, caused by pathogenic changes in the LYST gene, is a rare inherited disorder affecting immune function and various other bodily systems.

Chronic granulomatous disease

Chronic Granulomatous Disease is a rare inherited condition where immune cells called phagocytes cannot effectively kill certain bacteria and fungi.

Common variable immunodeficiency

Common variable immunodeficiency (CVID) is a primary immunodeficiency characterised by persistently low levels of antibodies, making individuals more susceptible to infections.

AD/AR/Polygenic

Complement C2 deficiency

Complement C2 deficiency is a rare inherited immune system disorder caused by a lack of functional C2 protein.

Complement C5–C9 deficiency (MAC defects)

Complement C5-C9 deficiency is a rare inherited immune disorder affecting the terminal components of the complement system, which normally helps eliminate certain bacteria.

Congenital neutropenia (G6PC3)

Congenital neutropenia (G6PC3) is a rare inherited condition causing severely low levels of neutrophils, a type of white blood cell essential for fighting bacterial infections.

CTLA-4 haploinsufficiency

CTLA-4 haploinsufficiency is a rare genetic immune disorder caused by reduced function of the CTLA4 protein, which normally helps regulate immune system activity.

DADA2 (deficiency of ADA2)

DADA2 is a rare genetic disorder caused by mutations in the ADA2 gene, leading to systemic inflammation, blood vessel damage (vasculopathy), and immune system dysfunction.

DOCK8 deficiency

DOCK8 deficiency is a rare inherited condition that affects the immune system, leading to a range of health problems.

Familial HLH type 2

Familial HLH type 2 is an inherited immune disorder characterised by excessive, uncontrolled immune activation that can lead to life-threatening inflammation.

GATA2 deficiency

GATA2 deficiency is a rare genetic condition that primarily affects the development of blood cells and the immune system.

Griscelli syndrome type 2

Griscelli syndrome type 2 is a rare, inherited disorder characterised by partial albinism, immune system problems, and neurological features.

Haemophagocytic lymphohistiocytosis type 3

Haemophagocytic lymphohistiocytosis type 3 (HLH3) is a rare, severe, inherited disorder of the immune system that leads to uncontrolled inflammation.

Haemophagocytic lymphohistiocytosis type 4

Haemophagocytic lymphohistiocytosis type 4 (HLH4) is a rare, inherited disorder of the immune system that leads to uncontrolled inflammation.

Haemophagocytic lymphohistiocytosis type 5

Haemophagocytic lymphohistiocytosis type 5 (HLH5) is a rare inherited disorder where immune cells become overactive, causing widespread inflammation and organ damage.

Hereditary alpha-tryptasaemia

Hereditary alpha-tryptasaemia is a genetic predisposition often characterised by an increased baseline level of alpha-tryptase in the blood.

Hereditary angioedema

Hereditary angioedema (HAE) is a rare genetic disorder that causes recurrent episodes of severe swelling.

Hereditary angioedema type III

Hereditary angioedema type III is a rare genetic condition that primarily causes recurrent episodes of deep tissue swelling, known as angioedema.

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome is a rare genetic condition that primarily affects pigmentation, blood clotting, and in some types, can impact other organs.

Hyper-IgE syndrome (AD, STAT3)

Hyper-IgE syndrome (AD, STAT3) is a rare genetic condition affecting the immune system, leading to recurrent infections, skin problems, and skeletal abnormalities.

IgA deficiency

IgA deficiency is a common primary immunodeficiency characterised by significantly reduced levels of immunoglobulin A (IgA) in the blood and secretions.

Polygenic / Complex

IPEX syndrome

IPEX syndrome is a rare genetic disorder caused by changes in the FOXP3 gene, leading to severe immune system dysfunction.

XLR

Leukocyte adhesion deficiency type 1

Leukocyte Adhesion Deficiency Type 1 (LAD1) is a rare genetic disorder that affects the immune system's ability to fight infections.

LRBA deficiency

LRBA deficiency is a rare inherited condition that affects the immune system, leading to a range of immunological and inflammatory problems.

Mast cell activation syndrome

Mast Cell Activation Syndrome (MCAS) is a complex condition characterised by episodes of excessive release of chemical mediators from mast cells, leading to a variety of symptoms.

Polygenic / Complex

Mendelian susceptibility to mycobacterial disease

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic condition that makes individuals particularly vulnerable to infections caused by mycobacteria.

AD/AR

NEMO deficiency (ectodermal dysplasia with immunodeficiency)

NEMO deficiency, also known as ectodermal dysplasia with immunodeficiency, is a rare genetic condition primarily affecting the skin, hair, teeth, and immune system.

XLR

Lymphatic 4

Kaposiform lymphangiomatosis

Kaposiform lymphangiomatosis (KLA) is a rare disorder characterised by the abnormal, sometimes aggressive, growth of lymphatic vessels in various parts of the body.

Somatic / Mosaic

Lymphatic malformation (generalised)

Generalised lymphatic malformation is a rare developmental disorder characterised by abnormalities in the lymphatic system, which is part of the body's immune and fluid-balancing networks.

Lymphoedema-distichiasis

Lymphoedema-distichiasis is a rare genetic condition characterised by swelling caused by lymphatic system dysfunction (lymphoedema) and the growth of extra eyelashes (distichiasis).

Milroy lymphoedema

Milroy lymphoedema is a genetic condition characterised by swelling (lymphoedema), most commonly affecting the lower limbs, due to impaired lymphatic drainage.

Metabolic 3

Gout

Gout is a common form of inflammatory arthritis caused by the deposition of uric acid crystals in joints and surrounding tissues.

Polygenic / Complex

Obesity (polygenic)

Polygenic obesity is a complex health condition characterised by excessive body fat, often indicated by a high Body Mass Index (BMI), influenced by multiple genetic and environmental factors.

Polygenic / Complex Also: Body mass index, High BMI

Type 2 diabetes mellitus

Type 2 diabetes mellitus is a metabolic condition characterised by high blood sugar levels resulting from the body's ineffective use of insulin or insufficient insulin production.

Polygenic / Complex Also: Type 2 diabetes, T2D

Microdeletion 13

18p deletion syndrome

18p deletion syndrome is a rare genetic condition caused by the absence of a portion of the short (p) arm of chromosome 18.

Sporadic (most de novo) Also: monosomy 18p, de Grouchy syndrome type 1

18q deletion syndrome

18q deletion syndrome is a genetic condition resulting from the loss of genetic material from the long arm (q arm) of chromosome 18.

Sporadic (most de novo) Also: monosomy 18q, de Grouchy syndrome type 2

1p36 deletion syndrome

1p36 deletion syndrome is a chromosomal condition resulting from a missing segment of genetic material on the short arm of chromosome 1.

Chromosomal Also: Monosomy 1p36, 1p36 del

22q11.2 deletion syndrome (DiGeorge)

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a genetic condition resulting from a small missing segment on chromosome 22.

AD (microdeletion)

9p deletion syndrome

9p deletion syndrome is a chromosomal condition resulting from loss of genetic material from the short arm of chromosome 9, leading to varied developmental and physical features.

Sporadic (most de novo) Also: monosomy 9p, 9p- syndrome

Angelman syndrome

Angelman syndrome is a rare neurodevelopmental disorder characterised by severe intellectual disability, absent speech, movement difficulties, and a happy demeanour.

AD Also: 15q11-q13 deletion (maternal), AS

Cri du chat syndrome

Cri du chat syndrome is a chromosomal condition caused by deletion of material from the short arm of chromosome 5, characterised by developmental delay and a distinctive high-pitched cry in infancy.

Chromosomal Also: 5p- syndrome, 5p15 deletion

Jacobsen syndrome

Jacobsen syndrome is a rare genetic condition caused by a missing section of genetic material from the end of the long arm of chromosome 11.

Chromosomal Also: 11q23-q25 deletion, 11q terminal deletion

Langer-Giedion syndrome

Langer-Giedion syndrome is a rare genetic condition characterised by distinctive facial features, skeletal abnormalities, and typically mild-to-moderate intellectual disability.

Sporadic (contiguous gene deletion) Also: trichorhinophalangeal syndrome type II, 8q24.11-q24.13 deletion

Prader-Willi syndrome

Prader-Willi syndrome is a complex genetic condition affecting the hypothalamus and resulting in characteristic features including poor muscle tone in infancy, insatiable appetite from early childhood, and developmental differences.

AD Also: 15q11-q13 deletion (paternal), PWS

SATB2-associated syndrome

SATB2-associated syndrome (SAS) is a rare genetic condition that can affect development, speech, and physical features.

Autosomal dominant (most de novo) Also: 2q33.1 microdeletion syndrome, Glass syndrome

Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder typically caused by a microdeletion on chromosome 17 or a pathogenic variant in the RAI1 gene.

AD Also: 17p11.2 deletion, SMS

Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome is a chromosomal condition caused by deletion of part of the short arm of chromosome 4, affecting multiple aspects of development.

Chromosomal Also: 4p16 deletion, WHS

Mitochondrial 12

Aminoglycoside-induced deafness

Aminoglycoside-induced deafness is a type of hearing impairment that can arise in genetically susceptible individuals following treatment with certain antibiotics.

Mitochondrial

Chronic progressive external ophthalmoplegia

Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disorder primarily affecting the muscles that control eye movement and eyelid position.

Mitochondrial

Kearns-Sayre syndrome

Kearns-Sayre syndrome (KSS) is a rare mitochondrial condition affecting multiple body systems, typically due to large deletions in mitochondrial DNA.

Mitochondrial

Leber hereditary optic neuropathy

Leber hereditary optic neuropathy (LHON) is a genetic condition that primarily causes sudden, painless vision loss due to damage to the optic nerve.

Mitochondrial

Leigh syndrome

Leigh syndrome is a severe, progressive neurological disorder characterised by psychomotor regression and brain lesions, typically starting in infancy.

MELAS

MELAS is a progressive neurological condition caused by problems with the mitochondria, the energy-producing parts of cells.

Mitochondrial

MERRF

MERRF (Myoclonic Epilepsy with Ragged Red Fibres) is a progressive neurological disorder that primarily affects the brain and muscles due to mitochondrial dysfunction.

Mitochondrial

MIDD (maternally inherited diabetes and deafness)

Maternally Inherited Diabetes and Deafness (MIDD) is a rare condition characterised by diabetes and hearing impairment, caused by changes in mitochondrial DNA.

Mitochondrial

Mitochondrial myopathy

Mitochondrial myopathy is a group of conditions that primarily affect the muscles, leading to weakness and fatigue due to impaired energy production within cells.

Mitochondrial

MNGIE

Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) is a rare genetic disorder that primarily impacts the digestive system and brain, due to problems with mitochondrial function.

NARP / Leigh syndrome (m.8993)

NARP / Leigh syndrome (m.8993) is a rare inherited mitochondrial disorder primarily affecting the nervous system and muscles.

Mitochondrial

Pearson syndrome

Pearson syndrome is a rare condition caused by problems with the mitochondria, the energy-producing parts of cells.

Mitochondrial

Neurogenetics 144

Aceruloplasminaemia

Aceruloplasminaemia is a rare inherited disorder characterised by the body's inability to properly handle iron, leading to its accumulation in certain tissues.

Action myoclonus-renal failure (AMRF)

Action myoclonus-renal failure (AMRF) is a rare inherited condition affecting the nervous system, leading to involuntary muscle jerks, and the kidneys, potentially causing kidney failure.

Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a rare, inherited neurological disorder that primarily affects the brain and immune system.

Aicardi-Goutières syndrome type 7 (IFIH1)

Aicardi-Goutières syndrome type 7 (AGS7) is a rare, severe neurological disorder that primarily affects the brain and immune system.

Aicardi syndrome

Aicardi syndrome is a rare X-linked developmental disorder characterised by absence or underdevelopment of the corpus callosum, infantile spasms, and distinctive changes in the retina.

XLD

Alexander disease

Alexander disease is a rare inherited neurological condition characterised by progressive destruction of white matter in the brain, caused by pathogenic variants in the GFAP gene.

ALS/FTD (C9orf72)

Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) caused by changes in the C9orf72 gene is a neurodegenerative condition.

ALS (SOD1)

ALS (SOD1) is a rare neurodegenerative condition that primarily affects motor neurones, leading to progressive muscle weakness.

Alternating hemiplegia of childhood

Alternating Hemiplegia of Childhood (AHC) is a rare neurological disorder that causes recurrent, temporary episodes of paralysis or weakness, typically affecting one side of the body.

Alzheimer disease (late-onset)

Late-onset Alzheimer disease is a progressive neurological condition that causes memory loss and cognitive impairment, primarily affecting individuals over the age of 65.

Polygenic / Complex Also: Alzheimer's disease, Alzheimers disease

Ataxia-telangiectasia

Ataxia-telangiectasia is a rare, inherited condition that primarily affects the brain, immune system, and other body systems.

Autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare genetic neurological condition primarily characterised by seizures occurring during sleep.

Baraitser-Winter syndrome

Baraitser-Winter syndrome is a rare genetic condition characterised by developmental delay, intellectual disability, and a range of distinctive physical features.

Becker muscular dystrophy

Becker muscular dystrophy (BMD) is a genetic condition characterised by progressive weakness and wasting of the muscles, which worsens over time.

XLR

Benign familial neonatal seizures (KCNQ2)

Benign familial neonatal seizures (KCNQ2) is a form of genetic epilepsy characterised by recurrent seizures in newborns, which typically resolve spontaneously.

Benign hereditary chorea

Benign hereditary chorea (BHC) is a rare, inherited neurological disorder primarily characterised by involuntary, jerky movements known as chorea.

Bethlem myopathy

Bethlem myopathy is an inherited muscle condition characterised by progressive muscle weakness, contractures (joint stiffness), and sometimes distinctive skin findings.

Bohring-Opitz syndrome

Bohring-Opitz syndrome is a rare neurodevelopmental condition characterised by severe intellectual disability, distinctive facial features, and a characteristic flexed posture of the limbs.

Borjeson-Forssman-Lehmann syndrome

Borjeson-Forssman-Lehmann syndrome is a rare X-linked genetic condition characterised by intellectual disability, distinctive facial features, and hormonal effects.

XLR

Boucher-Neuhäuser syndrome

Boucher-Neuhäuser syndrome is a rare inherited neurological condition characterised by progressive cerebellar ataxia, hypogonadism, and chorioretinal dystrophy.

Brown-Vialetto-Van Laere syndrome

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare inherited neurological disorder primarily affecting the brainstem and cranial nerves.

CADASIL

CADASIL is a rare genetic disorder that primarily affects the small blood vessels in the brain, leading to a type of stroke.

Cap myopathy

Cap myopathy is a rare, inherited condition characterised by muscle weakness due to abnormalities in skeletal muscle fibres.

CAPOS syndrome

CAPOS syndrome is a rare neurological condition characterised by distinct episodes of brain dysfunction.

CASK-related disorders

XLR/XLD

CDKL5 deficiency disorder

CDKL5 deficiency disorder (CDD) is a rare, severe genetic condition primarily affecting neurological development and function.

XLR

Central core disease

Central core disease is a rare inherited muscle disorder characterised by weakness and low muscle tone, caused by pathogenic variants in the RYR1 gene.

Charcot-Marie-Tooth 1A

Charcot-Marie-Tooth type 1A (CMT1A) is a common inherited neurological condition that primarily affects the peripheral nerves, leading to muscle weakness and sensory loss.

Charcot-Marie-Tooth 2A

Charcot-Marie-Tooth type 2A (CMT2A) is an inherited neurological condition that primarily affects the peripheral nerves, which are those outside the brain and spinal cord.

Chorea-acanthocytosis

Chorea-acanthocytosis is a rare, inherited neurological disorder characterised by involuntary movements, nerve damage, and distinctive red blood cell abnormalities.

Cockayne syndrome

Cockayne syndrome is a rare genetic disorder characterised by impaired DNA repair, leading to premature ageing, developmental delays, and neurological problems.

Cockayne syndrome type B

Cockayne syndrome type B is a rare inherited disorder characterised by severe developmental problems, sensitivity to sunlight, and features of premature ageing.

Coffin-Lowry syndrome

Coffin-Lowry syndrome is a genetic condition characterised by intellectual disability, distinctive facial features, and skeletal changes.

XLR

Coffin-Siris syndrome

Coffin-Siris syndrome is a rare genetic condition that primarily affects neurological development, leading to intellectual disability and distinctive physical features.

Congenital fibre-type disproportion myopathy

Congenital fibre-type disproportion myopathy (CFTDM) is a genetic condition affecting skeletal muscles, leading to muscle weakness and reduced muscle tone from an early age.

AD/AR

Congenital insensitivity to pain (SCN11A)

Congenital insensitivity to pain (SCN11A) is a rare inherited condition where individuals cannot feel physical pain due to genetic changes affecting nerve signal transmission.

Congenital insensitivity to pain (SCN9A)

Congenital insensitivity to pain (SCN9A) is a rare inherited neurological condition characterised by a lifelong inability to feel pain.

Congenital insensitivity to pain with anhidrosis (CIPA)

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disorder characterised by a lifelong inability to feel pain or temperature, and reduced or absent sweating.

Congenital myasthenic syndrome (COLQ)

Congenital Myasthenic Syndrome (COLQ) is a rare genetic disorder that affects the connection between nerves and muscles, leading to muscle weakness.

Congenital myasthenic syndrome (DOK7)

Congenital myasthenic syndrome (DOK7) is a rare genetic condition that affects the communication between nerves and muscles, leading to muscle weakness.

Congenital myasthenic syndrome (RAPSN)

Congenital myasthenic syndrome (CMS) caused by variants in the RAPSN gene is a group of inherited conditions affecting how nerves and muscles communicate.

CoPAN (COASY-related NBIA)

CoPAN is a very rare inherited neurodegenerative condition characterised by progressive movement problems, cognitive difficulties and abnormal iron accumulation in the brain.

Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a rare developmental condition present from birth, affecting multiple body systems.

Dentatorubral-pallidoluysian atrophy (DRPLA)

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive neurodegenerative disorder caused by changes in the ATN1 gene, leading to problems with movement, cognition, and mental health.

DOORS syndrome

DOORS syndrome is a rare genetic condition causing developmental and neurological issues, alongside distinctive physical features.

Dravet syndrome

Dravet syndrome is a rare, severe form of epilepsy that typically begins in the first year of life.

Duchenne muscular dystrophy

Duchenne muscular dystrophy is a genetic disorder characterised by progressive muscle weakness and wasting, primarily affecting skeletal and heart muscles.

XLR

DYT1 generalised dystonia

DYT1 generalised dystonia is a neurological movement disorder characterised by sustained or intermittent muscle contractions leading to abnormal, often repetitive, movements or postures.

DYT28 childhood-onset dystonia

DYT28 childhood-onset dystonia is a rare genetic movement disorder characterised by involuntary muscle contractions that typically begin in early childhood.

DYT6 mixed dystonia

DYT6 mixed dystonia is a rare genetic movement disorder causing involuntary, sustained muscle contractions in various body parts.

Early-onset Alzheimer disease (APP)

Early-onset Alzheimer disease associated with the APP gene is a rare, inherited neurodegenerative condition that typically causes progressive cognitive decline before the age of 65.

Early-onset Alzheimer disease (PSEN1)

Early-onset Alzheimer disease (EOAD) due to PSEN1 variants is a rare, inherited neurological disorder that typically begins before age 65, characterised by progressive decline in cognitive function.

Emery-Dreifuss muscular dystrophy (X-linked)

Emery-Dreifuss muscular dystrophy (X-linked) is a genetic condition primarily affecting skeletal muscles and the heart.

XLR

Epilepsy (genetic generalised)

Genetic generalised epilepsy (GGE) is a group of neurological conditions characterised by recurrent, unprovoked seizures that affect both sides of the brain simultaneously.

Polygenic / Complex

Episodic ataxia type 1

Episodic Ataxia Type 1 (EA1) is a rare neurological disorder characterised by sudden, short attacks of movement difficulties and problems with balance.

Episodic ataxia type 2

Episodic ataxia type 2 (EA2) is a rare neurological disorder characterised by recurrent periods of impaired coordination and balance, known as ataxia.

Erythromelalgia (primary)

Primary erythromelalgia is a rare condition characterised by episodes of intense burning pain, warmth, and redness, most commonly affecting the hands and feet.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy is an inherited neuromuscular condition characterised by progressive weakness affecting facial muscles, shoulder blades and upper arms.

Facioscapulohumeral muscular dystrophy 2

Facioscapulohumeral muscular dystrophy 2 is a rare inherited condition characterised by progressive weakness in the facial muscles, shoulder blades and upper arms.

Digenic

Familial cortical myoclonus with epilepsy (FAME)

Familial cortical myoclonus with epilepsy (FAME) is a rare inherited neurological condition characterised by involuntary muscle jerks and epileptic seizures originating from the brain's cortex.

Familial hemiplegic migraine type 1

Familial hemiplegic migraine type 1 is a rare inherited neurological condition characterised by severe migraine attacks accompanied by temporary weakness or paralysis affecting one side of the body.

Fatal familial insomnia

Fatal familial insomnia (FFI) is a very rare, inherited neurodegenerative disorder that primarily affects the thalamus, leading to severe and progressive sleep disturbances.

Feingold syndrome

Feingold syndrome is a rare genetic condition that primarily influences physical development, including features of the face, hands, feet, and digestive system.

Floating-Harbor syndrome

Floating-Harbour syndrome is a rare genetic condition characterised by developmental delays, distinctive facial features, and skeletal abnormalities.

Focal cortical dysplasia (type II)

Focal cortical dysplasia (Type II) is a developmental brain abnormality characterised by malformed and abnormally organised nerve cells in a specific area of the brain.

Somatic / Mosaic

FOXG1 syndrome

FOXG1 syndrome is a rare neurodevelopmental disorder characterised by significant developmental delays and brain abnormalities.

Fragile X-associated tremor/ataxia (FXTAS)

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological condition characterised by tremor, balance problems, and cognitive decline, primarily affecting older individuals.

XLR

Fragile X syndrome

Fragile X syndrome is a genetic condition that impacts brain development, often leading to intellectual disability and characteristic physical and behavioural features.

XLR

Friedreich ataxia

Friedreich ataxia is a rare, inherited neurodegenerative condition that primarily affects the nervous system, leading to progressive difficulties with coordination and movement.

Frontotemporal dementia (GRN)

Frontotemporal dementia (GRN-related) is a progressive neurodegenerative condition that primarily affects the frontal and temporal lobes of the brain, leading to changes in behaviour, personality, and language abilities.

Frontotemporal dementia (MAPT)

Frontotemporal dementia (FTD) associated with the MAPT gene is a progressive neurological condition primarily affecting parts of the brain responsible for personality, behaviour, and language.

Genitopatellar syndrome

Genitopatellar syndrome is a rare genetic condition characterised by developmental delay, intellectual disability, distinctive facial features, agenesis or hypoplasia of the patella, and genitourinary anomalies.

Gerstmann-Sträussler-Scheinker syndrome

Gerstmann-Sträussler-Scheinker syndrome (GSS) is a progressive and very rare inherited brain disorder that affects movement, coordination, and thinking abilities.

Giant axonal neuropathy

Giant axonal neuropathy is a rare, inherited neurological disorder characterised by severe dysfunction of both the peripheral and central nervous systems.

Glass syndrome

Glass syndrome is a rare genetic condition that primarily affects neurological development and bone formation.

GNE myopathy (Nonaka/IBM2)

GNE myopathy is a rare, inherited condition that leads to progressive weakness and wasting of muscles.

Gordon Holmes syndrome

Gordon Holmes syndrome is a very rare genetic condition characterised by a combination of progressive cerebellar ataxia and hypogonadism.

Griscelli syndrome type 1

Griscelli syndrome type 1 is a rare inherited condition primarily characterised by partial albinism and neurological problems.

Helsmoortel-Van der Aa syndrome

Helsmoortel-Van der Aa syndrome is a rare genetic condition characterised by developmental delay, intellectual disability, and a range of other features.

Hemimegalencephaly

Hemimegalencephaly is a rare developmental brain malformation in which one cerebral hemisphere is abnormally enlarged and structurally disorganised.

Somatic / Mosaic

Hereditary ATTR amyloidosis

Hereditary ATTR amyloidosis is a genetic disorder where abnormal transthyretin protein builds up in tissues, causing progressive organ damage.

Hereditary diffuse leukoencephalopathy with spheroids

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare, progressive neurological condition that primarily affects the white matter of the brain.

Hereditary motor and sensory neuropathy (HNPP)

Hereditary Neuropathy with Pressure Palsies (HNPP) is a genetic condition that causes nerves to be unusually sensitive to pressure, leading to episodes of numbness, tingling, and muscle weakness.

Hereditary motor neuropathy (distal, dominant)

Hereditary motor neuropathy (distal, dominant) is a group of rare genetic conditions that primarily affect motor nerves, leading to muscle weakness and wasting in the hands and feet.

Hereditary sensory and autonomic neuropathy type I

Hereditary Sensory and Autonomic Neuropathy Type I (HSAN I) is a group of rare genetic disorders that primarily affect the peripheral nerves responsible for sensation and autonomic body functions.

Hereditary sensory neuropathy type II

Hereditary Sensory Neuropathy Type II (HSN2) is a rare genetic condition characterised by severe and progressive loss of sensation, primarily affecting the peripheral nervous system.

Hereditary sensory neuropathy type I (SPTLC2)

Hereditary Sensory Neuropathy Type I (SPTLC2) is a rare genetic condition that primarily affects the peripheral nerves responsible for sensation and movement.

Hereditary spastic paraplegia (all)

Hereditary Spastic Paraplegia (HSP) is a group of inherited neurological conditions that primarily cause progressive weakness and stiffness in the legs.

AD/AR

Hereditary spastic paraplegia SPG4

Hereditary spastic paraplegia SPG4 is a genetic neurological condition primarily characterised by progressive weakness and stiffness (spasticity) in the legs.

Huntington disease

Huntington disease is a progressive neurological condition caused by a genetic change that leads to the degeneration of nerve cells in the brain.

Hyperkalaemic periodic paralysis

Hyperkalaemic periodic paralysis is a rare genetic condition that causes intermittent episodes of muscle weakness, often linked to changes in blood potassium levels.

Hypokalaemic periodic paralysis

Hypokalaemic periodic paralysis is a rare genetic disorder characterised by episodes of muscle weakness, sometimes leading to temporary paralysis.

Kabuki syndrome

Kabuki syndrome is a rare genetic condition that affects multiple body systems, leading to characteristic facial features, developmental delay, and diverse health challenges.

Kabuki syndrome 2 (KDM6A)

Kabuki syndrome type 2 is a rare genetic condition characterised by developmental delay, intellectual disability, and distinctive facial features.

XLR

KBG syndrome

KBG syndrome is a rare genetic condition primarily caused by changes in the ANKRD11 gene, affecting development and multiple body systems.

KCNQ2 epileptic encephalopathy

KCNQ2 epileptic encephalopathy is a rare genetic condition characterised by seizures beginning in infancy and varying degrees of developmental delay.

Kennedy disease (SBMA)

Kennedy disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare genetic condition that primarily affects nerve cells responsible for muscle movement.

XLR

KIF1A-associated neurological disorder

KIF1A-associated neurological disorder is a rare genetic condition that primarily affects the nervous system, leading to a variety of neurological challenges.

AD/AR

Kleefstra syndrome

Kleefstra syndrome is a rare genetic condition affecting development, typically causing intellectual disability and distinctive facial features.

Koolen-de Vries syndrome

Koolen-de Vries syndrome is a genetic condition characterised by developmental delay, intellectual disability, and a range of distinctive physical features.

AD (del)

Lafora disease

Lafora disease is a rare, inherited neurological disorder characterised by progressive myoclonus epilepsy and neurodegeneration.

AR Also: Lafora disease (NHLRC1)

Limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) is a genetic condition characterised by progressive weakness and wasting of muscles, primarily affecting those around the hips and shoulders.

Limb-girdle muscular dystrophy type 2B (Miyoshi)

Limb-girdle muscular dystrophy type 2B (LGMD2B) is a genetic condition characterised by progressive weakness and wasting of muscles.

Lujan-Fryns syndrome

Lujan-Fryns syndrome is a rare genetic condition primarily affecting males, characterised by intellectual disability and specific physical features.

XLR

Malignant hyperthermia susceptibility

Malignant hyperthermia susceptibility (MHS) is a genetic predisposition that can lead to a severe, rapid-onset reaction to specific anaesthetics and muscle relaxants.

Marinesco-Sjögren syndrome

Marinesco-Sjögren syndrome is a rare, inherited neurological disorder characterised by problems with muscle movement, cataracts, and intellectual disability.

McLeod syndrome

McLeod syndrome is a rare, inherited condition primarily affecting males, characterised by a combination of neurological, psychiatric, and haematological symptoms.

XLR

Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited neurological condition that primarily affects the brain's white matter.

Merosin-deficient congenital muscular dystrophy

Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare, inherited muscle disorder that causes progressive muscle weakness from infancy.

Migraine

Migraine is a common, complex neurological condition characterised by recurrent, severe headaches often accompanied by other symptoms.

Polygenic / Complex

Mowat-Wilson syndrome

Mowat-Wilson syndrome is a rare genetic condition that primarily affects neurological development and physical formation.

Multi-minicore disease

Multi-minicore disease is a rare genetic condition primarily affecting skeletal muscles, leading to muscle weakness and related difficulties.

Myoclonus-dystonia (DYT11)

Myoclonus-dystonia (DYT11) is a rare neurological movement disorder characterised by a combination of rapid, involuntary muscle jerks (myoclonus) and sustained or repetitive muscle contractions (dystonia).

Myofibrillar myopathy (BAG3)

Myofibrillar myopathy associated with BAG3 is a progressive muscle disorder that primarily causes weakness in skeletal muscles and can also affect the heart.

Myofibrillar myopathy (desmin)

Myofibrillar myopathy (desmin) is a rare genetic muscle disorder characterised by the gradual breakdown of muscle fibres.

Myofibrillar myopathy (filamin C)

Myofibrillar myopathy (filamin C) is an inherited disorder that causes progressive muscle weakness and heart problems due to pathogenic variants in the FLNC gene.

Myofibrillar myopathy (ZASP/LDB3)

Myofibrillar myopathy (ZASP/LDB3) is a rare, inherited muscle disorder characterised by the progressive degeneration of muscle fibres.

Myotonia congenita (Becker, recessive)

Myotonia congenita (Becker type) is a genetic condition primarily affecting skeletal muscles, causing prolonged muscle contraction and stiffness.

Myotonia congenita (Thomsen, dominant)

Myotonia congenita (Thomsen type) is an inherited condition characterised by prolonged muscle contraction and stiffness, particularly after rest.

Myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is a genetic condition characterised by muscle weakness, prolonged muscle contractions, and involvement of multiple body systems.

Myotonic dystrophy type 2

Myotonic dystrophy type 2 (DM2) is a genetic condition that primarily affects the muscles, causing weakness and stiffness.

Myotubular myopathy (X-linked)

X-linked myotubular myopathy is a severe genetic condition characterised by profound muscle weakness and hypotonia (low muscle tone).

Nemaline myopathy

Nemaline myopathy is a group of inherited muscle disorders characterised by muscle weakness and reduced muscle tone.

Neurodegeneration with brain iron accumulation 2 (PLA2G6)

Neurodegeneration with brain iron accumulation type 2 (NBIA2) is a rare, inherited neurological condition resulting from iron accumulation in specific brain regions.

Neurodegeneration with brain iron accumulation (BPAN)

Neurodegeneration with brain iron accumulation (BPAN) is a rare genetic disorder characterised by progressive neurological decline and the build-up of iron in specific areas of the brain.

Neuroferritinopathy

Neuroferritinopathy is a rare, progressive genetic disorder characterised by iron accumulation in specific areas of the brain, leading to neurological symptoms.

Nicolaides-Baraitser syndrome

Nicolaides-Baraitser syndrome is a rare genetic condition primarily affecting neurological development and physical appearance.

Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a rare, inherited condition that leads to progressive weakness in certain muscles, especially those around the eyes and in the throat.

Okur-Chung neurodevelopmental syndrome

Okur-Chung neurodevelopmental syndrome is a genetic condition typically characterised by developmental delay, intellectual disability, and distinctive facial features.

Pallister-Hall syndrome

Pallister-Hall syndrome is a rare genetic condition that affects how different parts of the body develop before birth.

Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare inherited neurological condition that primarily affects movement and speech.

Paramyotonia congenita

Paramyotonia congenita is a rare genetic disorder affecting muscle function, characterised by temporary muscle stiffness (myotonia) and sometimes weakness.

Parkinson disease (idiopathic)

Parkinson disease (idiopathic) is a progressive neurological condition that primarily affects movement, resulting from the loss of dopamine-producing brain cells.

Polygenic / Complex

Parkinson disease (LRRK2)

Parkinson disease associated with changes in the LRRK2 gene is a neurological condition that primarily affects movement.

Paroxysmal extreme pain disorder

Paroxysmal Extreme Pain Disorder (PEPD) is a rare genetic condition characterised by sudden, intense episodes of pain.

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a rare genetic condition characterised by distinctive facial features, broad thumbs and big toes, and varying degrees of learning disability.

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is a genetic condition characterised by progressive muscle weakness and wasting due to the loss of motor neurons.

AR Also: Werdnig-Hoffmann disease (SMA type I)

Spinal muscular atrophy with respiratory distress

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare, inherited neurological condition characterised by muscle weakness and significant breathing difficulties.

SYNGAP1-related ID

Tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a genetic condition characterised by the growth of benign (non-cancerous) tumours in various parts of the body.

AD Also: Tuberous sclerosis (TSC1)

Tuberous sclerosis (TSC2)

Tuberous sclerosis (TSC2) is a genetic condition characterised by benign tumours (hamartomas) that can develop in multiple organs, caused by pathogenic variants in the TSC2 gene.

Unverricht-Lundborg disease (EPM1)

Unverricht-Lundborg disease (EPM1) is a rare, inherited neurological condition characterised by progressive myoclonus epilepsy.

West syndrome (genetic)

West syndrome is a severe form of epilepsy that typically begins in infancy, characterised by a triad of infantile spasms, a specific abnormal brainwave pattern (hypsarrhythmia), and developmental regression.

Various

Woodhouse-Sakati syndrome

Woodhouse-Sakati syndrome is a rare, inherited genetic condition that primarily affects the nervous system, endocrine glands, and can lead to hair and skin changes.

Ophthalmology 32

Achromatopsia

Achromatopsia is an inherited eye condition characterised by severely impaired or absent colour vision.

Age-related macular degeneration

Polygenic / Complex

Aniridia

Aniridia is a rare genetic eye condition primarily characterised by incomplete development of the iris, the coloured part of the eye.

Anophthalmia/microphthalmia (OTX2)

Anophthalmia and microphthalmia are conditions characterised by the absence or abnormal smallness of one or both eyes, respectively, often due to genetic changes.

Anophthalmia/microphthalmia (SOX2)

Anophthalmia/microphthalmia (SOX2) is a genetic condition characterised by absent or abnormally small eyes caused by pathogenic variants in the SOX2 gene.

Autosomal dominant optic atrophy (Kjer)

Autosomal dominant optic atrophy (Kjer type) is an inherited eye condition characterised by progressive degeneration of the optic nerve.

Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome is a genetic condition characterised by developmental abnormalities, mainly affecting the eyes, teeth, and umbilical cord area.

Best vitelliform macular dystrophy

Best vitelliform macular dystrophy (BVMD) is an inherited eye condition that primarily affects the macula, the central part of the retina responsible for sharp, detailed vision.

Bietti crystalline corneoretinal dystrophy

Bietti crystalline corneoretinal dystrophy is a rare, inherited eye condition characterised by progressive vision loss due to crystalline deposits in the retina and cornea.

Choroideremia

Choroideremia is an inherited condition causing progressive degeneration of the choroid, retinal pigment epithelium, and photoreceptors, leading to vision loss.

Coloboma (PAX2-associated)

Coloboma (PAX2-associated) is a genetic condition primarily affecting eye development, often leading to visual impairment, and can also impact kidney function.

Cone dystrophy (progressive)

Progressive cone dystrophy is an inherited retinal disorder in which the light-sensing cone cells in the central part of the retina gradually deteriorate, leading to loss of colour vision and central visual acuity.

AD/AR/XL

Cone-rod dystrophy (ABCA4)

Cone-rod dystrophy (ABCA4) is a genetic eye condition characterised by progressive degeneration of the retina's photoreceptor cells, leading to vision loss.

Congenital cataract (dominant, crystallin)

Congenital cataract (dominant, crystallin) is an inherited form of lens clouding present from birth or early childhood, caused by pathogenic variants in genes encoding crystallin proteins.

Congenital cataract (recessive)

Congenital cataract (recessive) is an inherited eye condition where the lens of one or both eyes becomes cloudy at birth or during early infancy.

Congenital fibrosis of extraocular muscles

Congenital fibrosis of extraocular muscles (CFEOM) is a group of rare genetic conditions present from birth, characterised by restricted eye movements.

AD/AR

Congenital stationary night blindness

Congenital stationary night blindness is an inherited condition characterised by lifelong difficulty seeing in dim lighting from birth or early childhood.

Diabetic retinopathy

Diabetic retinopathy is a complication of diabetes that affects the eyes, specifically damaging the small blood vessels in the retina.

Polygenic / Complex

Familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a group of inherited eye disorders affecting the development of blood vessels in the retina.

Glaucoma (primary open-angle)

Primary open-angle glaucoma (POAG) is a complex eye condition characterised by progressive damage to the optic nerve, typically associated with increased pressure inside the eye.

Polygenic / Complex

Gyrate atrophy

Gyrate atrophy is a rare genetic condition characterised by progressive vision loss, caused by metabolic changes affecting the retina.

Keratoconus

Keratoconus is a progressive eye condition where the cornea, the clear front part of the eye, thins and bulges outwards into a cone shape.

Polygenic / Complex

Leber congenital amaurosis (CEP290)

Leber congenital amaurosis (LCA) due to changes in CEP290 is a severe inherited retinal disease causing significant vision impairment from birth or early infancy.

Leber congenital amaurosis (GUCY2D)

Leber congenital amaurosis (LCA) caused by pathogenic variants in GUCY2D is an inherited retinal disorder that leads to severe vision impairment from birth or early infancy.

Myopia (high, pathological)

Pathological myopia is a severe and progressive form of short-sightedness that can significantly impair vision.

Polygenic / Complex

Norrie disease

Norrie disease is a rare, inherited eye disorder that primarily affects males, causing severe vision impairment and often complete blindness.

XLR

Persistent hyperplastic primary vitreous

Persistent hyperplastic primary vitreous (PHPV) is a rare eye condition present from birth, caused by the incomplete regression of embryonic blood vessels in the eye.

AD/AR

Peters anomaly

Peters anomaly is a rare, congenital eye condition characterised by clouding of the cornea and structural abnormalities of the anterior segment of the eye.

Retinitis pigmentosa (dominant, RHO)

Retinitis pigmentosa (RP) is a group of inherited eye conditions that cause progressive degeneration of the retina, leading to vision loss.

Retinitis pigmentosa (multiple)

Retinitis pigmentosa (RP) is a group of inherited eye conditions that progressively damage the retina, the light-sensitive tissue at the back of the eye.

AD/AR

X-linked juvenile retinoschisis

X-linked juvenile retinoschisis is an inherited eye condition that causes progressive vision loss due to the splitting of the retina.

XLR

X-linked retinitis pigmentosa

X-linked retinitis pigmentosa (XLRP) is a group of inherited eye disorders that cause progressive degeneration of the retina, leading to impaired vision.

XLR

Overgrowth 4

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is a genetic condition characterised by overgrowth, which can affect multiple body systems and increase the risk of certain childhood tumours.

CLOVES syndrome

CLOVES syndrome is a rare overgrowth condition characterised by a range of physical differences, often affecting fat, blood vessels, and bones.

Somatic / Mosaic

Fibroadipose hyperplasia

Fibroadipose hyperplasia is a rare condition marked by the excessive, localised growth of fatty and fibrous tissues in specific body areas.

Somatic / Mosaic

Megalencephaly-capillary malformation syndrome

Megalencephaly-capillary malformation syndrome (MCAP) is a rare genetic condition characterised by brain overgrowth, abnormal blood vessels, and often affects various body parts.

Somatic / Mosaic

Psychiatric 6

Addiction (alcohol use disorder)

Alcohol use disorder is a chronic relapsing condition characterised by problematic patterns of alcohol consumption despite harmful consequences, influenced by both environmental and genetic factors.

Polygenic / Complex

ADHD

Attention-Deficit/Hyperactivity Disorder (ADHD) is a neurodevelopmental condition characterised by patterns of inattention, hyperactivity, and impulsivity.

Polygenic / Complex

Autism spectrum disorder

Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition that influences how individuals perceive the world and interact with others.

Polygenic / Complex

Bipolar disorder

Bipolar disorder is a complex mental health condition marked by extreme shifts in mood, energy, activity levels, and concentration.

Polygenic / Complex

Major depressive disorder

Major depressive disorder (MDD) is a complex mental health condition marked by persistent feelings of sadness, loss of interest, and other emotional and physical symptoms.

Polygenic / Complex

Nicotine dependence

Nicotine dependence is a complex, chronic condition where an individual develops a compulsive need for nicotine, a highly addictive substance found in tobacco products.

Polygenic / Complex

Pulmonary 7

ABCA3 deficiency

ABCA3 deficiency is a rare inherited lung condition caused by changes in the ABCA3 gene, leading to problems with surfactant production in the lungs.

Alveolar capillary dysplasia

Alveolar capillary dysplasia (ACD) is a rare developmental disorder affecting the lungs, particularly their small air sacs and blood vessels.

Brain-lung-thyroid syndrome

Brain-lung-thyroid syndrome is a rare genetic condition that can affect the development and function of the brain, lungs, and thyroid gland.

Congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome (CCHS) is a rare genetic condition that impairs the body's automatic control of breathing.

Cystic fibrosis

Cystic fibrosis is a genetic condition that primarily affects the lungs and digestive system, causing the production of thick, sticky mucus.

AR Also: Cystic fibrosis (residual function), Cystic fibrosis (minimal function)

Hereditary pulmonary arterial hypertension

Hereditary pulmonary arterial hypertension (HPAH) is a rare genetic disorder characterised by high blood pressure in the arteries supplying the lungs.

Lymphangioleiomyomatosis

Lymphangioleiomyomatosis is a rare condition characterised by abnormal proliferation of smooth muscle-like cells in the lungs, leading to cyst formation and progressive respiratory impairment.

AD/Somatic

RASopathy 2

Costello syndrome

Costello syndrome is a rare genetic condition primarily affecting development, growth, and multiple body systems, caused by variants in the HRAS gene.

Noonan syndrome

Noonan syndrome is a genetic condition that can affect various bodily systems, leading to characteristic physical features, heart defects, and developmental differences.

Renal 33

Alport syndrome (autosomal recessive)

Autosomal recessive Alport syndrome is a genetic condition primarily affecting the kidneys, often leading to progressive kidney failure, and can also impact hearing and vision.

AR Also: Autosomal recessive Alport syndrome

Alport syndrome (X-linked)

Alport syndrome (X-linked) is a genetic disorder that mainly affects the kidneys, often leading to progressive kidney disease, and can also impact hearing and vision.

XLR Also: Alport syndrome with hearing loss

Autosomal dominant polycystic kidney disease

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic condition primarily characterised by the growth of numerous fluid-filled cysts in the kidneys.

AD Also: Autosomal dominant polycystic kidney disease (PKD1), Autosomal dominant polycystic kidney disease (PKD2)

Autosomal recessive polycystic kidney disease

Autosomal recessive polycystic kidney disease is an inherited condition in which fluid-filled cysts develop in the kidneys and liver, typically presenting in infancy or early childhood.

Autosomal recessive renal tubular dysgenesis

Autosomal recessive renal tubular dysgenesis is a rare genetic disorder that impacts the normal development of the kidneys' filtering units.

Bartter syndrome

Bartter syndrome is a rare genetic condition that affects the kidneys' ability to properly reabsorb salts and minerals.

C3 glomerulopathy

C3 glomerulopathy is a rare kidney disease characterised by abnormal deposits of a protein called C3 within the kidney's filtering units.

Polygenic / Complex

Chronic kidney disease (polygenic)

Polygenic chronic kidney disease refers to kidney dysfunction influenced by multiple genetic and environmental factors.

Polygenic / Complex

Congenital nephrotic syndrome (Finnish type)

Congenital nephrotic syndrome (Finnish type) is a severe inherited kidney disorder that causes massive protein loss in the urine from birth or early infancy.

Cystinosis

Cystinosis is a rare, inherited metabolic disorder characterised by the accumulation of the amino acid cystine within cells throughout the body.

Cystinuria

Cystinuria is a genetic condition typically characterised by the formation of cystine kidney stones.

Dent disease

Dent disease is a rare inherited kidney disorder characterised by excessive protein loss in the urine and progressive kidney damage.

Denys-Drash syndrome

Denys-Drash syndrome is a rare genetic condition characterised by kidney disease, abnormal genital development, and a high risk of a childhood kidney cancer called Wilms tumour.

Diabetic nephropathy

Diabetic nephropathy is progressive kidney damage that develops as a complication of diabetes mellitus, characterised by declining filtration function and increased protein loss in the urine.

Polygenic / Complex

EAST syndrome

EAST syndrome is a rare genetic condition characterised by epilepsy, ataxia, sensorineural deafness and renal tubulopathy, caused by pathogenic variants in the KCNJ10 gene.

Familial hypomagnesaemia with nephrocalcinosis (CLDN16)

Familial hypomagnesaemia with nephrocalcinosis (CLDN16) is a rare inherited kidney disorder characterised by excessive urinary magnesium loss and calcium deposits within the kidneys.

Fanconi-Bickel syndrome

Fanconi-Bickel syndrome is a rare inherited condition primarily characterised by issues with glucose and galactose processing, affecting the kidneys and liver.

Focal segmental glomerulosclerosis (INF2)

Focal segmental glomerulosclerosis (FSGS) due to variants in the INF2 gene is a genetic kidney disorder that affects the filtering units of the kidneys.

Frasier syndrome

Frasier syndrome is a genetic condition primarily affecting kidney development and the formation of the reproductive organs.

Galloway-Mowat syndrome

Galloway-Mowat syndrome is a rare genetic condition characterised by severe kidney problems and abnormalities in brain development.

Gitelman syndrome

Gitelman syndrome is a rare inherited kidney disorder that affects the body's ability to maintain a healthy balance of electrolytes, particularly potassium and magnesium.

Gordon syndrome (PHAII)

Gordon syndrome, also known as pseudohypoaldosteronism type II (PHAII), is a rare genetic condition characterised by high blood pressure, high blood potassium, and metabolic imbalances affecting the kidneys.

HDR syndrome

HDR syndrome is a rare genetic condition characterised by hypoparathyroidism, sensorineural deafness, and kidney problems.

Hypophosphataemic rickets (FGF23-mediated)

Hypophosphataemic rickets (FGF23-mediated) is a rare genetic disorder characterised by low phosphate levels in the blood, primarily affecting bone and tooth development.

IgA nephropathy (familial)

Familial IgA nephropathy is a kidney condition where an antibody called immunoglobulin A (IgA) accumulates in the filtering units of the kidneys.

Polygenic / Complex

Liddle syndrome

Liddle syndrome is a rare genetic kidney disorder characterised by early-onset high blood pressure and low potassium levels in the blood.

Lowe syndrome

Lowe syndrome is a rare genetic condition that primarily affects the eyes, brain, and kidneys, presenting with a distinctive set of features.

XLR

Medullary cystic kidney disease (MUC1)

Medullary cystic kidney disease type 1 is a rare genetic condition characterised by the development of fluid-filled cysts within the kidneys, leading to progressive kidney damage.

Medullary cystic kidney disease (UMOD)

Medullary cystic kidney disease (UMOD-related) is an inherited condition that primarily affects the kidneys, leading to the development of cysts and progressive kidney damage.

Nail-patella syndrome

Nail-patella syndrome is a genetic condition characterised by developmental problems affecting the nails, bones (especially kneecaps and elbows), and kidneys.

Nephrogenic diabetes insipidus (AR, AQP2)

Nephrogenic diabetes insipidus is a condition where the kidneys are unable to properly concentrate urine, leading to significant fluid loss.

Nephrogenic diabetes insipidus (X-linked)

Nephrogenic diabetes insipidus (X-linked) is a genetic condition that prevents the kidneys from properly reabsorbing water, leading to an inability to concentrate urine.

XLR

Nephronophthisis

Nephronophthisis is an inherited disorder that affects the kidneys, causing inflammation and scarring that can lead to chronic kidney failure.

Reproductive 11

Androgen insensitivity syndrome (complete)

Complete Androgen Insensitivity Syndrome (CAIS) is a life-long genetic condition where the body cannot properly respond to androgens, leading to typical female external characteristics in individuals with XY chromosomes.

XLR

Blepharophimosis-ptosis-epicanthus inversus (BPES)

Blepharophimosis-ptosis-epicanthus inversus (BPES) is a genetic condition characterised by specific eyelid abnormalities and, in some individuals, primary ovarian insufficiency.

Congenital bilateral absence of vas deferens

Congenital bilateral absence of vas deferens (CBAVD) is a genetic condition where the tubes that carry sperm, known as the vas deferens, are missing from birth.

Early menopause

Polygenic risk for early menopause arises from the combined effect of hundreds of common genetic variants, each nudging the age at which the ovaries stop releasing eggs a little earlier or later.

Polygenic / Complex Also: Premature ovarian insufficiency, Early menopause

Endometriosis

Endometriosis is a chronic condition where tissue similar to the lining of the womb grows outside the uterus, causing pain and potentially affecting fertility.

Polygenic / Complex

Fragile X-associated primary ovarian insufficiency

Fragile X-associated primary ovarian insufficiency is a genetic condition in which menstrual periods stop before age 40 due to premutation-range expansions in the FMR1 gene.

XLR

Male factor infertility (non-obstructive)

Male factor infertility (non-obstructive) is a condition where a man has difficulty conceiving a child due to issues with sperm production or function, not caused by blockages in the reproductive tract.

Polygenic / Complex

Meacham syndrome

Meacham syndrome is a rare genetic condition characterised by specific developmental abnormalities affecting the kidneys and the genital/urinary system.

Partial androgen insensitivity (PAIS)

Partial androgen insensitivity (PAIS) is a genetic condition that affects how the body responds to androgens, a group of hormones important for male sexual development.

XLR

Perrault syndrome

Perrault syndrome is a rare genetic condition primarily characterised by ovarian insufficiency in individuals assigned female at birth and sensorineural hearing loss in both sexes.

Persistent Müllerian duct syndrome

Persistent Müllerian duct syndrome (PMDS) is a rare genetic condition where individuals with male external genitalia also have female internal reproductive structures.

Respiratory 3

Asthma

Asthma is a chronic inflammatory condition of the airways that causes episodes of wheezing, breathlessness, chest tightness and coughing.

Polygenic / Complex

COPD

Chronic Obstructive Pulmonary Disease (COPD) is a progressive lung condition characterised by persistent airflow limitation, making breathing difficult.

Polygenic / Complex

Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive lung disease where the lung tissue becomes scarred and thickened.

Polygenic / Complex

Skeletal 27

Aarskog-Scott syndrome

Aarskog-Scott syndrome is a rare genetic condition primarily affecting development, leading to distinctive facial features, skeletal anomalies, and genital abnormalities.

XLR

Achondroplasia

Achondroplasia is a genetic condition that affects bone growth, resulting in short stature and disproportionately short limbs.

Brachydactyly type A1

Brachydactyly type A1 is a genetic skeletal condition characterised by shortened middle bones of the fingers and toes.

Brachydactyly type C

Brachydactyly type C is a rare skeletal condition characterised by shortening of specific finger and thumb bones due to abnormal development during early growth.

Campomelic dysplasia

Campomelic dysplasia is a rare genetic condition primarily characterised by severe skeletal abnormalities and, in around two-thirds of cases, differences in sex development.

Cleidocranial dysplasia

Cleidocranial dysplasia is a rare genetic condition that primarily affects the development of bones and teeth.

Conradi-Hünermann-Happle syndrome

Conradi-Hünermann-Happle syndrome (CHH) is a rare genetic disorder characterised by skeletal abnormalities, skin changes, and eye problems.

XLD

Diastrophic dysplasia

Diastrophic dysplasia is a rare genetic condition that primarily affects the development of cartilage and bone.

Distal arthrogryposis

Distal arthrogryposis refers to a group of genetic conditions characterised by multiple joint contractures, mainly affecting the hands and feet, present from birth.

AD/AR

Ellis-van Creveld syndrome

Ellis-van Creveld syndrome is a rare genetic condition primarily characterised by skeletal abnormalities, heart defects, and dental issues.

Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition characterised by progressive heterotopic ossification, where soft tissues gradually transform into bone.

Gorham-Stout disease (vanishing bone)

Gorham-Stout disease is a very rare condition characterised by progressive bone loss (osteolysis) due to the uncontrolled growth of lymphatic vessels.

Somatic / Mosaic

Greig cephalopolysyndactyly

Greig cephalopolysyndactyly is a rare genetic condition characterised by specific developmental differences affecting the limbs, head, and facial features.

Hajdu-Cheney syndrome

Hajdu-Cheney syndrome is a rare genetic disorder primarily affecting bone development and connective tissues, leading to characteristic skeletal and other physical features.

Hereditary multiple exostoses

Hereditary multiple exostoses (HME) is a genetic condition characterised by the development of multiple benign (non-cancerous) bone growths called osteochondromas, typically near the ends of long bones.

Hypochondroplasia

Hypochondroplasia is a genetic disorder affecting bone growth, leading to disproportionate short stature.

Hypophosphatasia

Hypophosphatasia is a rare genetic disorder characterised by defective bone and teeth mineralisation, leading to skeletal abnormalities and other symptoms.

Intervertebral disc degeneration

Intervertebral disc degeneration involves the gradual breakdown of the spinal discs, which cushion the vertebrae.

Polygenic / Complex

Kniest dysplasia

Kniest dysplasia is a rare genetic disorder that primarily affects bone growth and skeletal development.

Larsen syndrome

Larsen syndrome is a genetic condition that primarily affects skeletal development, leading to widespread joint dislocations and distinctive facial features from birth.

Melorheostosis

Melorheostosis is a rare, non-hereditary condition of the bones characterised by excessive, uneven bone growth.

Somatic / Mosaic

Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia (MED) is a group of genetic conditions primarily affecting the development of bone ends (epiphyses) and cartilage.

AD/AR

Osteopetrosis (AD, benign)

Autosomal dominant benign osteopetrosis is a genetic condition characterised by abnormally dense and brittle bones due to impaired bone resorption.

Osteopetrosis (infantile, malignant)

Infantile malignant osteopetrosis is a severe genetic condition characterised by unusually dense and fragile bones, often leading to serious health complications.

Osteoporosis

Osteoporosis is a condition characterised by reduced bone density and structural deterioration, making bones fragile and prone to fractures.

Polygenic / Complex Also: Low bone mineral density

Paget disease of bone

Paget disease of bone is a chronic condition characterised by abnormal and accelerated bone remodelling, leading to weakened and often enlarged bones.

Pseudoachondroplasia

Pseudoachondroplasia is a genetic condition that affects the development of bones, primarily causing disproportionate short stature.

Vascular 7

Blue rubber bleb naevus syndrome

Blue rubber bleb naevus syndrome is a rare vascular disorder characterised by distinctive blue, compressible skin lesions and internal blood vessel malformations, particularly in the gastrointestinal tract.

Somatic / Mosaic

Capillary malformation-AVM syndrome

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a genetic condition characterised by reddish-purple skin patches and abnormal connections between arteries and veins.

AD Also: Parkes Weber syndrome

Capillary malformation-AVM syndrome 2

Capillary malformation-AVM syndrome 2 is a rare inherited disorder characterised by abnormal blood vessel formations, including capillary malformations and arteriovenous malformations.

Cerebral cavernous malformations (somatic)

Cerebral cavernous malformations (CCMs) are abnormal clusters of small, enlarged blood vessels in the brain or spinal cord.

Somatic / Mosaic

Hereditary haemorrhagic telangiectasia type 1

Hereditary Haemorrhagic Telangiectasia (HHT) is a genetic condition characterised by abnormal blood vessel development, often leading to bleeding.

AD Also: Hereditary haemorrhagic telangiectasia (pulmonary AVM), Hereditary haemorrhagic telangiectasia type 2

Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome (KTS) is a rare congenital condition characterised by a combination of capillary malformations, venous malformations, and overgrowth of a limb.

Somatic / Mosaic

Multiple cutaneous/mucosal venous malformation

Multiple cutaneous/mucosal venous malformation is a rare inherited condition characterised by the development of numerous soft, blue or purple vascular lesions on the skin and mucous membranes.

737 geneticconditions.

Autoimmune 5

Autoinflammatory 10

Cancer 7

Cancer Predisposition 37

Cardiovascular 34

Chromosomal 8

Chromosomal disorder 10

Ciliopathy 10

Connective Tissue 24

Craniofacial 11

Dermatogenetics 28

Developmental 1

Endocrine 39

GI 1

Growth 2

Haematology 39

Hearing Loss 12

Hepatic & GI 19

IEM 102

Immunology 30

Lymphatic 4

Metabolic 3

Microdeletion 13

Mitochondrial 12

Neurogenetics 144

Ophthalmology 32

Overgrowth 4

Psychiatric 6

Pulmonary 7

RASopathy 2

Renal 33

Reproductive 11

Respiratory 3

Skeletal 27

Vascular 7

737 genetic
conditions.