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...
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...
