by CheckRare Staff | May 2, 2017
Autoimmune polyendocrine syndrome type 1 (APS-1) is an inherited autoimmune condition that affects many of the body’s organs. Symptoms often begin in childhood and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected...
by CheckRare Staff | May 2, 2017
Atransferrinemia (also called familial hypotransferrinemia) is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood. It is characterized by anemia and hemosiderosis in the heart...
by CheckRare Staff | May 2, 2017
Apparent mineralocorticoid excess syndrome (AME) is an autosomal recessive disorder causing hypertension (high blood pressure) and hypokalemia (abnormally low levels of potassium). It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of...
