ORPHA:647834
SLC40A1-related hemochromatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SLC40A1-related hemochromatosis | |
| fr | Hémochromatose associée à SLC40A1 | |
| de | Hämochromatose, SLC40A1-Gen-assoziierte | |
| es | Hemocromatosis asociada a SLC40A1 | |
| it | Emocromatosi correlata a SLC40A1 | |
| nl | SLC40A1-gerelateerde hemochromatose | |
| pt | SLC40A1-related hemochromatosis | |
| pl | Hemochromatoza związana z SLC40A1 | |
| cs | Hemochromatóza asociovaná s SLC40A1 | |
| uk | Гемохроматоз, повязаний з SLC40A1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606069 | E | validated | |
| ICD-10 | E83.1 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | attributed | validated |
| MONDO | 0011631 | E | validated | |
| MONDO | 11631 | E | validated | |
| UMLS | C5816749 | 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:648569Non-HFE-related hemochromatosis
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:139491OBSOLETE: Hemochromatosis type 4 referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC40A1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10909 | ENSG00000138449 | 604653 | 2q32.2 | solute carrier family 40 member 1 | 11431687[PMID]_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/647834
- This record as JSON: /data/d/647834.json