ORPHA:648562
Ferroportin disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare disorder of iron metabolism and transport characterized by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anemia and elevated of serum ferritin levels. Ferroportin disease is distinct from hemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ferroportin disease | |
| fr | Maladie de la ferroportine | |
| de | Ferroportin-Krankheit | |
| es | Enfermedad de la ferroportina | |
| it | Malattia correlata alla ferroportina | |
| nl | Ferroportine-ziekte | |
| pt | Doença da ferroportina | |
| pl | Choroba ferroportyny | |
| cs | Ferroportinové onemocnění | |
| uk | Ферропортінова хвороба |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606069 | NTBT | validated | |
| ICD-10 | E83.1 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | index | validated |
| UMLS | C1853733 | 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 (2):
- ORPHA:309842Disorder of iron metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC40A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10909 | ENSG00000138449 | 604653 | 2q32.2 | solute carrier family 40 member 1 | 34601591[PMID] |
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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/648562
- This record as JSON: /data/d/648562.json