Hemochromatosis, type 2 [Supplementary Concept]
An autosomal recessive form of congenital hemochromatosis characterized by severe iron loading and organ failure before 30 years of age. It is characterized by by a triad of HEMOSIDEROSIS; HEART DISEASE; LIVER CIRRHOSIS; DIABETES MELLITUS and abnormal skin pigmentation. Mutations in the HJV gene have been identified. OMIM: 602390
Date introduced: August 25, 2010
MeSH Unique ID: C537247
Heading Mapped to:
Entry Terms:
- Hemochromatosis, juvenile
- Juvenile hemochromatosis
- Hemochromatosis, Type 2A