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
External Links
Disease Ontology
DOID:0111029
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 29 in total
Gene ID Gene Symbol Description Source
48 ACO1 aconitase 1
217 ALDH2 aldehyde dehydrogenase 2 family member
231 AKR1B1 aldo-keto reductase family 1 member B
412 STS steroid sulfatase
811 CALR calreticulin
929 CD14 CD14 molecule
2262 GPC5 glypican 5
2523 FUT1 fucosyltransferase 1 (H blood group)
2524 FUT2 fucosyltransferase 2 (H blood group)
2719 GPC3 glypican 3

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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: August 19, 2024