Autosomal dominant optic atrophy and cataract is a rare genetic disorder that affects the eyes. It is caused by a mutation in the OPA1 gene, which is responsible for the production of a protein that helps maintain the structure of the mitochondria...

Autosomal dominant optic atrophy and peripheral neuropathy (ADOPN) is a rare genetic disorder characterized by progressive vision loss due to optic nerve damage, as well as peripheral nerve damage that can cause numbness, tingling, and muscle weak...

Autosomal dominant optic atrophy plus syndrome (ADOAP) is a rare genetic disorder characterized by progressive vision loss due to optic nerve damage, as well as other neurological and physical abnormalities. It is caused by mutations in the OPA1 g...

Autosomal dominant optic atrophy, classic form (ADOA-CF) is a rare inherited disorder that affects the optic nerve, which carries visual information from the eye to the brain. It is characterized by progressive vision loss, usually beginning in ch...

Autosomal dominant osteopetrosis type 1 (ADO1) is a rare genetic disorder that affects the bones. It is caused by a mutation in the TCIRG1 gene, which is responsible for the production of a protein that helps to regulate the activity of osteoclast...

Autosomal dominant otospondylomegaepiphyseal dysplasia (AD-OSMED) is a rare genetic disorder that affects the development of bones and cartilage in the body. It is characterized by hearing loss, short stature, and skeletal abnormalities. The heari...

Autosomal dominant palmoplantar keratoderma and congenital alopecia is a rare genetic disorder characterized by thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and hair loss at birth (congenital alopecia). This...

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder that causes cysts to form in the kidneys. These cysts can grow and eventually cause the kidneys to become enlarged and damaged. ADPKD can also cause cysts to form in other ...

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (ADPKD1-TSC) is a rare genetic disorder that is caused by a mutation in the PKD1 gene. It is characterized by the growth of multiple cysts in the kidneys, as well as the d...

Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic disorder characterized by webbing of the skin between the back of the knee and the ankle (popliteal pterygium), as well as other physical abnormalities. It is caused by a m...

Autosomal Dominant Porencephaly Type I is a rare genetic disorder that affects the development of the brain. It is caused by a mutation in the COL4A1 gene, which is responsible for the production of a protein that helps form the walls of blood ves...

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome is a rare genetic disorder characterized by the presence of extra fingers or toes (polydactyly) on the preaxial side of the hands and feet, as well as excessive hair growth ...

Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPH) is a rare inherited disorder characterized by low levels of magnesium in the blood (hypomagnesemia) and low levels of calcium in the urine (hypocalciuria). It is caused by mutatio...

Autosomal dominant prognathism is a genetic disorder that causes the lower jaw to protrude further than normal. It is caused by a mutation in the gene that controls the development of the lower jaw. Symptoms of this disorder include an underbite, ...

Autosomal dominant progressive nephropathy with hypertension is a rare genetic disorder that affects the kidneys. It is characterized by progressive kidney damage, high blood pressure, and proteinuria (excess protein in the urine). It is caused by...

Autosomal dominant proximal renal tubular acidosis (ADRTA) is a rare inherited disorder that affects the kidneys. It is caused by a mutation in the SLC4A1 gene, which is responsible for the production of a protein called sodium bicarbonate cotrans...