ORPHA:648581
Digenic hemochromatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Oligogenic
- Status
- active
A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Digenic hemochromatosis | |
| fr | Hémochromatose digénique | |
| de | Hämochromatose, digene | |
| es | Hemocromatosis digénica | |
| it | Emocromatosi digenica | |
| nl | Digenetische hemochromatose | |
| pt | Hemocromatose digénica | |
| pl | Hemochromatoza digenowa | |
| cs | Digenická hemochromatóza | |
| uk | Двогенний гемохроматоз |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E83.1 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | attributed | validated |
| MONDO | 0958085 | E | validated | |
| MONDO | 958085 | E | validated | |
| UMLS | C5816744 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HAMP | Disease-causing germline mutation(s) in | Assessed | HGNC:15598 | ENSG00000105697 | 606464 | 19q13.12 | hepcidin antimicrobial peptide | 35449524[PMID] |
| HFE | Disease-causing germline mutation(s) in | Assessed | HGNC:4886 | ENSG00000010704 | 613609 | 6p22.2 | homeostatic iron regulator | 34601591[PMID] |
| HJV | Disease-causing germline mutation(s) in | Assessed | HGNC:4887 | ENSG00000168509 | 608374 | 1q21.1 | hemojuvelin BMP co-receptor | 35449524[PMID] |
| TFR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11762 | ENSG00000106327 | 604720 | 7q22.1 | transferrin receptor 2 | 26799139[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/648581
- This record as JSON: /data/d/648581.json