ORPHA:75564
Acquired idiopathic sideroblastic anemia
Synonyms: AISA · Primary acquired sideroblastic anemia · RARS · Refractory anemia with ringed sideroblasts
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acquired idiopathic sideroblastic anemia | AISA · Primary acquired sideroblastic anemia · RARS · Refractory anemia with ringed sideroblasts |
| fr | Anémie sidéroblastique idiopathique acquise | AISA · ASIA · Anémie réfractaire avec sidéroblastes en couronne · Anémie sidéroblastique primaire acquise |
| de | Anämie, sideroachrestische, erworbene idiopathische | AISA · Anämie, sideroblastische, erworbene primäre · RARS · Refraktäre Anämie mit Ringsideroblasten |
| es | Anemia sideroblástica idiopática adquirida | AISA · ASAI · Anemia refractaria con sideroblastos en anillo · Anemia sideroblástica primaria adquirida · RARS |
| it | Anemia sideroblastica idiopatica acquisita | AISA · Anemia refrattaria con sideroblasti ad anello · Anemia sideroblastica acquisita primitiva · RARS |
| nl | Verworven idiopathische sideroblastische anemie | AISA · Primaire verworven sideroblastische anemie · RARS · Refractaire anemie met ringsideroblasten |
| pt | Anemia sideroblástica idiopática adquirida | Anemia refratária com sideroblastos anelares |
| pl | Nabyta idiopatyczna niedokrwistość syderoblastyczna | AISA · Niedokrwistość oporna na leczenie z obecnością pierścieniowatych syderoblastów · Pierwotna nabyta niedokrwistość syderoblastyczna · RARS |
| cs | Získaná idiopatická sideroblastická anémie | AISA · Primární získaná sideroblastická anémie · RARS · Refrakterní anémie s prstenčitými sideroblasty |
| uk | Набута ідіопатична сидеробластна анемія | AISA · Первинна набута сидеробластна анемія · RARS · Рефрактерна анемія з кільцевими сидеробластами |
| zh | 获得性特发性铁幼粒细胞性贫血 | 难治性贫血伴环状铁粒幼红细胞 |
| tr | Edinsel idiyopatik sideroblastik anemi | AISA · RARS · Primer edinsel sideroblastik anemi · Halkalı sideroblastlar ile seyreden refrakter anemi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D64.3 | NTBT | attributed | validated |
| ICD-11 | 2A33 | E | specific | validated |
| MONDO | 0019157 | E | validated | |
| MONDO | 19157 | E | validated | |
| UMLS | C4016601 | E | validated | |
| GARD | 8249 | 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:52688Myelodysplastic syndrome
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:1047Sideroblastic anemia
rare hematological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SF3B1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:10768 | ENSG00000115524 | 605590 | 2q33.1 | splicing factor 3b subunit 1 | 24507814[PMID] |
| TET2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:25941 | ENSG00000168769 | 612839 | 4q24 | tet methylcytosine dioxygenase 2 | 19557078[PMID]_19483684[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.09 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
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
28 annotations · validated 2019-06-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010972 | Anemia of inadequate production | |
| HP:0004828 | Refractory anemia with ringed sideroblasts | |
| Frequent (79-30%) | ||
| HP:0012132 | Erythroid hyperplasia | |
| HP:0200143 | Megaloblastic erythroid hyperplasia | |
| HP:0001895 | Normochromic anemia | |
| HP:0001897 | Normocytic anemia | |
| HP:0000980 | Pallor | |
| Occasional (29-5%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0012143 | Abnormal megakaryocyte morphology | |
| HP:0012137 | Abnormal number of granulocyte precursors | |
| HP:0031035 | Chronic infection | |
| HP:0012136 | Dysplastic granulopoesis | |
| HP:0002240 | Hepatomegaly | |
| HP:0001931 | Hypochromic anemia | |
| HP:0011447 | Hyposegmentation of neutrophil nuclei | |
| HP:0002863 | Myelodysplasia | |
| HP:0001744 | Splenomegaly | |
| HP:0001873 | Thrombocytopenia | |
| Very rare (<4-1%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0004808 | Acute myeloid leukemia | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0001635 | Congestive heart failure | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001913 | Granulocytopenia | |
| HP:0005513 | Increased megakaryocyte count | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0001876 | Pancytopenia | |
| HP:0001894 | Thrombocytosis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30725758[PMID]_1625471[PMID]_10792275[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75564
- This record as JSON: /data/d/75564.json