ORPHA:139507
Dietary iron overload disease
Synonyms: African iron overload · Bantu siderosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dietary iron overload disease | African iron overload · Bantu siderosis |
| fr | Maladie de surcharge nutritionnelle en fer | Hémochromatose africaine · Sidérose bantoue · Sidérose des Bantous |
| de | Afrikanische Eisenüberladung | Bantu-Siderose |
| es | Sobrecarga de hierro tipo africano | |
| it | Sovraccarico di ferro, tipo africano | Siderosi dei Bantu |
| nl | Afrikaanse ijzerstapeling | Bantoe-siderose · Bantu-siderose |
| pt | Sobrecarga de ferro, tipo africano | |
| pl | Afrykańskie przeciążenie żelazem | Syderoza Bantu |
| cs | Africký typ přetížení organizmu železem | Bantu sideróza |
| uk | Хвороба надлишку заліза в раціоні харчування | Африканське перевантаження залізом · Сидероз Банту |
| zh | 非洲铁过载症 | Bantu铁质沉着 |
| tr | Afrika aşırı demir yükü | Bantu siderozu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601195 | E | validated | |
| ICD-10 | E83.1 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | index | validated |
| MONDO | 0011012 | E | validated | |
| MeSH | C537904 | E | validated | |
| UMLS | C0268063 | E | validated | |
| GARD | 8495 | E | validated | |
| MedDRA | 10083862 | 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
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
25 annotations · validated 2019-06-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003281 | Increased circulating ferritin concentration | |
| Frequent (79-30%) | ||
| HP:0012465 | Elevated hepatic iron concentration | |
| HP:0012463 | Elevated transferrin saturation | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0002614 | Hepatic periportal necrosis | |
| HP:0012115 | Hepatitis | |
| HP:0006562 | Viral hepatitis | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0012090 | Abnormal pancreas morphology | |
| HP:0011732 | Abnormality of adrenal morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0011772 | Abnormality of thyroid morphology | |
| HP:0031035 | Chronic infection | |
| HP:0001635 | Congestive heart failure | |
| HP:0000819 | Diabetes mellitus | |
| HP:0012852 | Hepatic bridging fibrosis | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0002240 | Hepatomegaly | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0001413 | Micronodular cirrhosis | |
| HP:0100510 | Vitamin C deficiency | |
| Very rare (<4-1%) | ||
| HP:0011459 | Esophageal carcinoma | |
| HP:0000939 | Osteoporosis | |
| HP:0002586 | Peritonitis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 10615217[PMID]_10881373[PMID]_1727237[PMID]_8549953[PMID]_14515008[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139507
- This record as JSON: /data/d/139507.json