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hemochromatosis type 4

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Uniprot Description A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Disease Ontology Description A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.
Mondo Term and Equivalent IDs
MONDO:0011631:  hemochromatosis type 4
GARD:0010094: 
MESH:C537249: 
Orphanet:139491: 
SCTID:719975002: 
UMLS:C1853733: