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...

Autosomal dominant rhegmatogenous retinal detachment is a rare genetic disorder that affects the eyes. It is caused by a mutation in the COL2A1 gene, which is responsible for the production of collagen type II, a protein that helps to maintain the...

Autosomal dominant Robinow syndrome is a rare genetic disorder that affects the development of bones and other parts of the body. It is caused by a mutation in the ROR2 gene and is inherited in an autosomal dominant pattern, meaning that only one ...

Autosomal dominant secondary polycythemia is a rare genetic disorder that is caused by a mutation in the EPOR gene. This mutation causes the body to produce too many red blood cells, leading to an increased risk of blood clots and other complicati...

Autosomal dominant severe congenital neutropenia (AD-SCN) is a rare inherited disorder characterized by a deficiency of neutrophils, a type of white blood cell that helps the body fight infection. People with AD-SCN are at an increased risk of rec...

Autosomal dominant slowed nerve conduction velocity (AD-SNCV) is a rare inherited disorder that affects the speed at which electrical signals travel along the nerves. It is caused by a mutation in the gene that codes for the protein myelin, which ...

Autosomal dominant spastic ataxia type 1 (ADSA1) is a rare, inherited neurological disorder characterized by progressive difficulty with coordination and balance (ataxia) and spasticity (stiffness and jerky movements) of the legs. It is caused by ...

Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG10 gene, which is located on chromos...

Autosomal dominant spastic paraplegia type 12 (SPG12) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG12 gene, which is located on chromos...

Autosomal dominant spastic paraplegia type 13 (SPG13) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the KIF5A gene, which is responsible for th...