by CheckRare Staff | Apr 20, 2020
Pompe disease, also known as Glycogen storage disease type 2 is an inherited metabolic disorder caused by an inborn lack of the enzyme acid alpha-glucosidase (also known as acid maltase), which is necessary to break down glycogen, a substance that is a source of...
by CheckRare Staff | Apr 16, 2020
Chronic granulomatous disease (CGD) is a rare, inherited immunodeficiency that affects certain white blood cells. This condition leaves the body vulnerable to chronic inflammation and frequent bacterial and fungal infections. The features of this condition usually...
by CheckRare Staff | Apr 13, 2020
Scleroderma is an autoimmune disorder that may involve changes in the skin, blood vessels, muscles, and internal organs. There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and...
by CheckRare Staff | Apr 10, 2020
Fragile X syndrome (FXS) is a genetic condition causing a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed...
by CheckRare Staff | Apr 9, 2020
Cushing’s syndrome is a rare endocrine disorder caused by prolonged exposure of the body’s tissues to high levels of cortisol (a hormone produced by the adrenal gland). It usually affects adults between age 20 and 50 years. Signs and symptoms of...
