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...
by CheckRare Staff | Apr 27, 2020
Multiple myeloma is a rare blood cancer characterized by the expansion of malignant plasma cells in the bone marrow associated with excessive production of monoclonal immunoglobulins in blood and urine. Individuals with multiple myeloma develop significant osteolytic...
by CheckRare Staff | Apr 27, 2020
Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia). Episodes typically involve a temporary inability to move muscles in the arms and legs. The first attack usually...
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...
