ORPHA:260305
Autosomal recessive sideroblastic anemia
Synonyms: ARSA · Congenital sideroblastic anemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive sideroblastic anemia | ARSA · Congenital sideroblastic anemia |
| fr | Anémie sidéroblastique autosomique récessive | ARSA · Anémie sidéroblastique congénitale |
| de | Sideroblastische Anämie, autosomal-rezessive | ARSA · Sideroblastische Anämie, kongenitale |
| es | Anemia sideroblástica autosómica recesiva | ARSA · Anemia sideroblástica congénita |
| it | Anemia sideroblastica autosomica recessiva | ARSA · Anemia sideroblastica congenita |
| nl | Autosomaal recessieve sideroblastische anemie | ARSA · Congenitale sideroblastische anemie |
| pt | Anemia sideroblástica autossómica recessiva | Anemia sideroblástica congénita autossómica recessiva |
| pl | Autosomalna recesywna niedokrwistość syderoblastyczna | ARSA · Wrodzona niedokrwistość syderoblastyczna |
| cs | Autozomálně recesivní sideroblastická anémie | ARSA · Vrozená sideroblastická anémie |
| uk | Аутосомно-рецесивна сидеробластна анемія | ARSA · Вроджена сидеробластна анемія |
| zh | 常染色体隐性遗传性铁幼粒细胞性贫血 | 先天性铁幼粒细胞性贫血 |
| tr | Otozomal resesif sideroblastik anemi | ARSA · Doğumsal sideroblastik anemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 205950 | BTNT | validated | |
| ICD-10 | D64.0 | NTBT | attributed | validated |
| ICD-11 | 3A72.00 | NTBT | index | validated |
| MONDO | 0016828 | E | validated | |
| UMLS | C4274077 | 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:98362Constitutional sideroblastic anemia
rare genetic diseases; rare hematological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSPA9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5244 | ENSG00000113013 | 600548 | 5q31.2 | heat shock protein family A (Hsp70) member 9 | 26491070[PMID] |
| SLC25A38 | Disease-causing germline mutation(s) in | Assessed | HGNC:26054 | ENSG00000144659 | 610819 | 3p22.1 | solute carrier family 25 member 38 | 19412178[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/260305
- This record as JSON: /data/d/260305.json