by CheckRare Staff | May 3, 2017
Dupuytren’s contracture is a flexion contracture of the hand in which the fingers bend towards the palm and cannot be fully extended. It is caused by a palmar fibromatosis. The disease is an inherited proliferative connective tissue disorder that involves the...
by CheckRare Staff | May 2, 2017
Behr syndrome is characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in...
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...
