MeSH Browser

MeSH Supplementary: Hemochromatosis, type 2
Unique ID: C537247
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537247
Entry Term(s): Hemochromatosis, Type 2A; Hemochromatosis, juvenile; Juvenile hemochromatosis
Heading Mapped to: Hemochromatosis / congenital
Frequency: 35
Note: 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
Indexing Information: Hepcidins
Date of Entry: 2010/08/25
Revision Date: 2015/09/26

Hemochromatosis, type 2 MeSH Supplementary Concept Data 2024