ORPHA:300298
Severe congenital hypochromic anemia with ringed sideroblasts
Synonyms: Severe congenital hypochromic sideroblastic anemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A very rare severe non-syndromic hypochromic anemia characterized by transfusion-dependent hypochromic, poorly regenerative anemia and iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe congenital hypochromic anemia with ringed sideroblasts | Severe congenital hypochromic sideroblastic anemia |
| fr | Anémie hypochrome congénitale sévère avec sidéroblastes en couronne | Anémie hypochrome congénitale sévère avec sidéroblastes en anneau · Anémie sidéroblastique hypochrome congénitale sévère |
| de | Schwere kongenitale hypochrome Anämie mit Ringsideroblasten | Hypochrome Anämie mit Ringsideroblasten, schwere kongenitale Form |
| es | Anemia congénita hipocrómica grave con sideroblastos en anillo | Anemia sideroblástica hipocrómica congénita grave con sideroblastos en anillo |
| it | Anemia ipocromica congenita grave con sideroblasti ad anello | Anemia sideroblastica ipocromica congenita grave |
| nl | Ernstige congenitale hypochrome anemie met ringsideroblasten | Ernstige congenitale hypochrome sideroblastische anemie |
| pt | Anemia hipocrómica congénita grave com sideroblastos em anel | Anemia sideroblástica hipocrómica congénita grave |
| pl | Ciężka wrodzona niedokrwistość niedobarwliwa z syderoblastami pierścieniowatymi | Ciężka wrodzona niedokrwistość syderoblastyczna niedobarwliwa |
| cs | Těžká vrozená hypochromní anémie s prstenčitými sideroblasty | Těžká vrozená hypochromní sideroblastická anémie |
| uk | Тяжка вроджена гіпохромна анемія з кільцевими сидеробластами | Тяжка вроджена гіпохромна сидеробластна анемія |
| zh | 伴有环状铁粒母细胞的重度先天性低色素性贫血 | 重度先天性低色素性铁粒幼细胞性贫血 |
| tr | Halkalı sideroblastlar ile seyreden ağır doğumsal hipokromik anemi | Ağır doğumsal hipokromik sideroblastik anemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615234 | E | validated | |
| ICD-10 | D64.0 | NTBT | attributed | validated |
| ICD-11 | 3A72.00 | NTBT | index | validated |
| MONDO | 0014094 | E | validated | |
| UMLS | C4511137 | 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:98360Constitutional anemia due to iron metabolism disorder
rare genetic diseases; rare hematological diseases - ORPHA:98362Constitutional sideroblastic anemia
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STEAP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:24592 | ENSG00000115107 | 609671 | 2q14.2 | STEAP3 metalloreductase | 22031863[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 22031863[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
20 annotations · validated 2017-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| HP:0012464 | Decreased transferrin saturation | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0001896 | Reticulocytopenia | |
| Frequent (79-30%) | ||
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0004823 | Anisopoikilocytosis | |
| HP:0000027 | Azoospermia | |
| HP:0025066 | Decreased mean corpuscular volume | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0012465 | Elevated hepatic iron concentration | |
| HP:0012378 | Fatigue | |
| HP:0000135 | Hypogonadism | |
| HP:0003452 | Increased circulating iron concentration | |
| HP:0000980 | Pallor | |
| Occasional (29-5%) | ||
| HP:0000846 | Adrenal insufficiency | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0012134 | Dysplastic erythropoesis | |
| HP:0001510 | Growth delay | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000821 | Hypothyroidism | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 22031863[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300298
- This record as JSON: /data/d/300298.json