by CheckRare Staff | Apr 30, 2020
Mucopolysaccharidosis type VII (MPS VII), also known as Sly Syndrome, is a rare, progressive lysosomal storage disease first described in 1973 by Dr. William Sly. It is caused by the inherited deficiency of the β-glucuronidase enzyme due to mutations in the...
by CheckRare Staff | Apr 29, 2020
An inherited form of anemia — a condition in which there aren’t enough healthy red blood cells to carry adequate oxygen throughout your body, which produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long...
by CheckRare Staff | Apr 29, 2020
Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Some additional signs and symptoms may include weak muscle tone (hypotonia), sagging...
by CheckRare Staff | Apr 28, 2020
Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the...
by CheckRare Staff | Apr 28, 2020
Zellweger syndrome (cerebrohepatorenal syndrome), is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies. Zellweger syndrome is one of...
