ORPHA:648569
Non-HFE-related hemochromatosis
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
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.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-HFE-related hemochromatosis | |
| fr | Hémochromatose non associée à HFE | |
| de | Hämochromatose, nicht-HFE-assoziierte | |
| es | Hemocromatosis no asociada a HFE | |
| it | Emocromatosi non correlata a HFE | |
| nl | Niet-HFE-gerelateerde hemochromatose | |
| pt | Hemocromatose não-relacionada a HFE | |
| pl | Hemochromatoza niezwiązana z HFE | |
| cs | Hemochromatóza nesouvisející s HFE | |
| uk | Гемохроматоз, не повязаний з HFE |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5816745 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:220489Rare hereditary hemochromatosis
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/648569
- This record as JSON: /data/d/648569.json