hemochromatosis type 3

Summary
Synonym
  • HFE3
  • TFR2-related hemochromatosis
  • hemochromatosis due to defect in transferrin receptor 2
Definition
A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.
Super Class
hemochromatosis
Disease Ontology
DOID:0111030
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7036 TFR2 transferrin receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
50765 Tfr2 transferrin receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
288562 Tfr2 transferrin receptor 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
853590 VPS70 putative zinc metalloprotease
854430 TRE2 putative zinc metalloprotease
855927 TRE1 Tre1p

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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: December 9, 2024