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hemochromatosis type 1

Disease Summary
Associated Targets (12)
Tbio

10

Tclin

2


Mondo Description Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease
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 homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.
Mondo Term and Equivalent IDs
MONDO:0021001:  hemochromatosis type 1
EFO:0006513: 
GARD:0010417: 
NCIT:C84764: 
Orphanet:465508: 
UMLS:CN242134: