Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency is a genetic condition where the pancreas releases too much insulin, causing low blood ...

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a genetic condition where the pancreas makes too much insulin even when the blood sugar is already ...

Dominant KATP hyperinsulinism due to Kir6.2 deficiency is a genetic condition where the pancreas releases too much insulin, especially when it should not—such ...

Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency is a genetic form of congenital hyperinsulinism (HI) in which the pancreatic β-cells ...

Autosomal dominant hyperinsulinism from KCNJ11 (Kir6.2) loss-of-function means the potassium channels (called KATP channels) on the beta cells in the pancreas ...

Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome is a rare inherited condition that weakens the tiny blood vessels (small-vessel disease) and ...

HANAC syndrome is a rare, inherited condition caused by changes (mutations) in the COL4A1 gene. This gene helps your body make type IV collagen, a key building ...

Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps (HANAC) is a rare, inherited disorder that affects small blood vessels (the ...

Autosomal dominant familial hematuria–retinal arteriolar tortuosity–contractures syndrome is a rare, inherited condition in which tiny blood vessels are ...

Partial epilepsy with auditory aura means a person has repeated seizures that begin in one small area of one brain hemisphere (a “focal” or “partial” onset), ...

Familial epilepsy with auditory features is a type of focal (partial) epilepsy that tends to run in families and usually starts in the lateral (outer) part of ...

Autosomal Dominant Epilepsy with Auditory Features is a genetic epilepsy in which seizures begin in the side (lateral) part of the temporal lobe—the brain area ...

Autosomal dominant epidermolytic ichthyosis (EI), formerly called epidermolytic hyperkeratosis or bullous congenital ichthyosiform erythroderma, is a genetic ...

Kidney tubular acidosis is a group of disorders where the kidney’s tubules can’t keep the body’s acid-base balance normal. You get a normal anion-gap ...

Distal renal tubular acidosis (often shortened to “distal RTA” or “type 1 RTA”) is a kidney problem where the last part of the kidney tubule (the distal tubule ...

Autosomal dominant distal kidney tubular acidosis (AD-dRTA) is a rare inherited condition where the last part of the kidney tubules (the “distal” tubules) ...

Autosomal Dominant Distal Axonal Motor Neuropathy–Myofibrillar Myopathy (AD dAMN–MFM) Syndrome is an inherited kidney disorder where the last part of the ...

Autosomal Dominant Distal Axonal Motor Neuropathy–Myofibrillar Myopathy Syndrome is a genetic disorder that mainly affects motor nerves (the wires that make ...

Onychodystrophy means any long-lasting change in the normal look, structure, or growth of a fingernail or toenail. The nail may become thick or thin, rough or ...

Dominant Deafness–Onychodystrophy (DDOD) syndrome is a very rare genetic condition present from birth. People with this syndrome have sensorineural hearing ...