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GTR Home > Conditions/Phenotypes > Hemochromatosis type 5

Hemochromatosis type 5

Synonyms
Iron overload, autosomal dominant
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare disorder of iron metabolism and transport characterised by elevated serum ferritin levels, increased serum iron, increased transferrin saturation and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while haematological examination of peripheral blood shows no abnormalities. [from SNOMEDCT_US]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: FHC, FTH, FTHL6, HFE5, NBIA9, PIG15, PLIF, FTH1
    Summary: ferritin heavy chain 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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