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hemochromatosis type 4

Summary
Synonym
  • HFE4
  • autosomal dominant hereditary hemochromatosis
  • ferroportin disease
  • hemochromatosis due to defect in ferroportin
Definition
A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.
Super Class
hemochromatosis
Disease Ontology
DOID:0111028
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
30061 SLC40A1 solute carrier family 40 member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
53945 Slc40a1 solute carrier family 40 (iron-regulated transporter), member 1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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