hemochromatosis type 1

Summary
Synonym
  • HFE1
  • symptomatic form of HFE-related hereditary hemochromatosis
  • symptomatic form of classic hemochromatosis
  • symptomatic form of hemochromatosis type 1
Definition
A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.
Super Class
hemochromatosis
Disease Ontology
DOID:0111029
Mondo Disease Ontology
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
650 BMP2 bone morphogenetic protein 2
3077 HFE homeostatic iron regulator
Displaying 1 entry
Gene ID Gene Symbol Description Source
15216 Hfe homeostatic iron regulator
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025