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GTR Home > Conditions/Phenotypes > Hemochromatosis type 4

Hemochromatosis type 4

Synonyms
HEMOCHROMATOSIS DUE TO DEFECT IN FERROPORTIN; HEMOCHROMATOSIS, AUTOSOMAL DOMINANT; SLC40A1-Related Hereditary Hemochromatosis
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Hemochromatosis type 4 (HFE4) is a dominantly inherited iron overload disorder with heterogeneous phenotypic manifestations that can be classified into 2 groups. One group is characterized by an early rise in ferritin (see 134790) levels with low to normal transferrin (190000) saturation and iron accumulation predominantly in macrophages. The other group is similar to classical hemochromatosis, with high transferrin saturation and prominent parenchymal iron loading (summary by De Domenico et al., 2005). For general background information and a discussion of genetic heterogeneity of hereditary hemochromatosis, see 235200. [from OMIM]

Available tests

39 tests are in the database for this condition.

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Clinical tests (38 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: FPN, FPN1, HFE4, IREG1, MST079, MSTP079, MTP1, SLC11A3, SLC40A1
    Summary: solute carrier family 40 member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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