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Start free with EleplanNon-HFE-related hemochromatosis
ORPHA:648569Clinical group
What it is
A group of genetic disorders of iron overload comprising the rarer forms of hemochromatosis (HC), characterized by a phenotype of severe tissue iron deposition. These rare forms are HJV or HAMP-related hemochromatosis, TFR2-related hemochromatosis and SLC40A1-related hemochromatosis.
Key facts
- Classified as
- Clinical group
Recorded for the broader condition
- Age of onset
- All agesRare hereditary hemochromatosis
- Inheritance
- Autosomal dominant, Autosomal recessiveRare hereditary hemochromatosis
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Genes reported in subtypes
Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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