Autosomal Dominant Hypophosphatemia
Autosomal dominant hypophosphatemia is a rare, inherited problem where the body loses too much phosphate in the urine. Phosphate is a mineral your bones and muscles need. In this condition, a hormone ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Autosomal Dominant Hereditary Hypophosphatemic Rickets (ADHR)
Autosomal dominant hereditary hypophosphatemic rickets (ADHR) is a rare, inherited bone-mineral disorder caused by changes (mutations) in a hormone called FGF23. These mutations make FGF23 ...
Autosomal Dominant Hypophosphatemic Rickets (ADHR)
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare, inherited disorder where the kidneys waste phosphate, causing low blood phosphate (hypophosphatemia), weak mineralization of growing bone ...
Hypohidrotic Ectodermal Dysplasia (HED)
Hypohidrotic ectodermal dysplasia is a rare genetic condition that affects body parts that come from the outer layer of the embryo (the ectoderm). These parts include the skin, hair, nails, teeth, ...
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia (AD-HED)
Autosomal dominant hypohidrotic ectodermal dysplasia is a rare, inherited condition that mainly affects body parts made from the outer layer of the embryo (the ectoderm). The most affected tissues ...
Autosomal Dominant Anhidrotic (Hypohidrotic) Ectodermal Dysplasia (AD-HED)
Autosomal dominant anhidrotic/hypohidrotic ectodermal dysplasia (AD-HED) is a lifelong, inherited condition that mainly affects body parts that grow from the “ectoderm” (the outer layer in early ...
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia (AD-HED)
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia (AD-HED) is a rare, inherited condition that affects body parts that grow from the outer layer of the embryo (the ectoderm). These include the ...
Autosomal Dominant Hypocalcemia (ADH)
Autosomal Dominant Hypocalcemia (ADH) is a genetic disorder where the body’s calcium-sensing pathway is overly sensitive. The parathyroid glands “think” blood calcium is high when it is not, so they ...
Autosomal Dominant Hyperinsulinism Due to Sulfonylurea Receptor-1 (SUR1/ABCC8) Deficiency
Autosomal Dominant Hyperinsulinism Due to Sulfonylurea Receptor-1 (SUR1/ABCC8) Deficiency is a rare genetic condition where the pancreas releases too much insulin even when blood sugar is low. SUR1 ...
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to SUR1 Deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency is a genetic condition where the pancreas releases too much insulin, causing low blood sugar (hypoglycemia) that can recur from ...
Autosomal Dominant Hyperinsulinism Due to SUR1 Deficiency
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 low. “Autosomal dominant” means a ...
Dominant KATP Hyperinsulinism Due to Kir6.2 Deficiency
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 as during fasting. The problem comes ...
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency is a genetic form of congenital hyperinsulinism (HI) in which the pancreatic β-cells release too much insulin, causing ...
Hereditary Angiopathy-Nephropathy-Aneurysms-Muscle Cramps (HANAC) Syndrome
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome is a rare inherited condition that weakens the tiny blood vessels (small-vessel disease) and can also affect larger arteries. It ...
HANAC Syndrome
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 block of “basement membranes” (thin ...
Hereditary Angiopathy with Nephropathy Aneurysms and Muscle Cramps (HANAC)
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps (HANAC) is a rare, inherited disorder that affects small blood vessels (the “microvasculature”) in many parts of the body, ...
Autosomal Dominant Familial Hematuria–Retinal Arteriolar Tortuosity–Contractures Syndrome
Autosomal dominant familial hematuria–retinal arteriolar tortuosity–contractures syndrome is a rare, inherited condition in which tiny blood vessels are fragile because a key basement-membrane ...
Autosomal Dominant Epilepsy with Auditory Features
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 that handles hearing and understanding ...
Autosomal Dominant Epidermolytic Ichthyosis
Autosomal dominant epidermolytic ichthyosis (EI), formerly called epidermolytic hyperkeratosis or bullous congenital ichthyosiform erythroderma, is a genetic skin condition. Babies are often born ...
Autosomal Dominant Distal Kidney Tubular Acidosis
Autosomal dominant distal kidney tubular acidosis (AD-dRTA) is a rare inherited condition where the last part of the kidney tubules (the “distal” tubules) cannot get rid of acid properly. Because ...
