by CheckRare Staff | Nov 2, 2017
Bile acid synthesis disorders (BASDs) due to single enzyme defects are a group of rare genetic disorders that affect the enzymes responsible for making normal, healthy bile acids. A mutation, or change, in one’s DNA prevents formation of normal bile acids and causes...
by CheckRare Staff | Nov 2, 2017
Focal segmental glomerulosclerosis (FSGS) is a cause of nephrotic syndrome in children and adolescents, as well as a leading cause of kidney failure in adults. It is also known as “focal glomerular sclerosis” or “focal nodular...
by CheckRare Staff | Aug 8, 2017
X-linked juvenile retinoschisis (XLRS) is a genetic ocular disease characterized by reduced visual acuity in males due to juvenile macular degeneration. Symptoms X-linked juvenile retinoschisis manifests with poor vision and reading difficulties. In severe cases,...
by CheckRare Staff | Aug 8, 2017
Overview Pulmonary arterial hypertension (PAH) is a rare, progressive disorder characterized by high blood pressure (hypertension) in the arteries of the lungs (pulmonary artery) for no apparent reason. The pulmonary arteries are the blood vessels that carry blood...
by CheckRare Staff | Jul 25, 2017
Cushing’s disease is a rare subset of Cushing’s syndrome, an endocrine disorder caused by prolonged exposure of the body’s tissues to high levels of cortisol. Cushing’s disease is caused specifically by a pituitary tumor secreting adrenocorticotropic hormone (ACTH)....
