{"orpha":75564,"name":"Acquired idiopathic sideroblastic anemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AISA","Primary acquired sideroblastic anemia","RARS","Refractory anemia with ringed sideroblasts"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75564/","orphanet_url":"https://www.orpha.net/en/disease/detail/75564","names":{"fr":{"name":"Anémie sidéroblastique idiopathique acquise","synonyms":["AISA","ASIA","Anémie réfractaire avec sidéroblastes en couronne","Anémie sidéroblastique primaire acquise"],"definition":"L'anémie sidéroblastique idiopathique acquise appartient au groupe des syndromes myélodysplasiques (SMD), caractérisés par une hématopoïèse inefficace au sein d'une ou de plusieurs lignées cellulaires sanguines (myéloïde, érythrocytaire ou mégacaryocytaire), ce qui entraîne une cytopénie du sang périphérique et un risque accru de développer une leucémie. L'anémie sidéroblastique idiopathique acquise est aujourd'hui plus communément référencée sous le nom d'anémie réfractaire avec sidéroblastes en couronne ou sous son acronyme, ASIA."},"de":{"name":"Anämie, sideroachrestische, erworbene idiopathische","synonyms":["AISA","Anämie, sideroblastische, erworbene primäre","RARS","Refraktäre Anämie mit Ringsideroblasten"],"definition":"Die Erworbene idiopathische sideroachrestische Anämie ist eine Krankheit aus der Gruppe der Myelodysplastischen Syndrome (MDS). Sie ist gekennzeichnet durch ineffektive Hämatopoese mit Beteiligung einer oder mehrerer Zellinien (Granulo-, Eryththro- und Thrombopoese) mit der Folge verminderter Zellzahlen im peripheren Blut und einem erhöhten Leukämierisiko. Die Erworbene idiopathische sideroachrestische Anämie wird in neuerer Zeit häufiger als Refraktäre Anämie mit Ringsideroblasten oder mit dem entsprechenden Akronym RARS bezeichnet."},"es":{"name":"Anemia sideroblástica idiopática adquirida","synonyms":["AISA","ASAI","Anemia refractaria con sideroblastos en anillo","Anemia sideroblástica primaria adquirida","RARS"],"definition":"Es un síndrome mielodisplásico (SMD) poco frecuente caracterizado por hematopoyesis ineficaz que afecta a una o varias lineas hematopoyéticas (mieloide, eritroide y megacariocítica) y que conduce a citopenias en sangre periférica y a un mayor riesgo de desarrollar leucemia."},"it":{"name":"Anemia sideroblastica idiopatica acquisita","synonyms":["AISA","Anemia refrattaria con sideroblasti ad anello","Anemia sideroblastica acquisita primitiva","RARS"]},"nl":{"name":"Verworven idiopathische sideroblastische anemie","synonyms":["AISA","Primaire verworven sideroblastische anemie","RARS","Refractaire anemie met ringsideroblasten"],"definition":"Een zeldzaam myelodysplastisch syndroom (MDS), gekenmerkt door ineffectieve hematopoëse die een of meer bloedcellijnen treft (myeloïd, erytroïd of megakaryocytair), wat leidt tot cytopenie van perifeer bloed en verhoogd risico op ontwikkeling van leukemie."},"pt":{"name":"Anemia sideroblástica idiopática adquirida","synonyms":["Anemia refratária com sideroblastos anelares"],"definition":"A anemia sideroblástica idiopática adquirida inclui-se num grupos de doenças conhecidas como síndromes mielodisplásicas (MDS) caracterizadas por hematopoiese ineficaz afetando uma ou mais linhagens de glóbulos vermelhos (mieloide, eritroide ou megacariocítica) e levando a citopenias no sangue periférico e a um risco aumentado de desenvolver leucemia. A anemia sideroblástica idiopática adquirida atualmente tem sido denominada anemia refratária com sideroblastos em anel, ou pelo acrónimo RARS."},"pl":{"name":"Nabyta idiopatyczna niedokrwistość syderoblastyczna","synonyms":["AISA","Niedokrwistość oporna na leczenie z obecnością pierścieniowatych syderoblastów","Pierwotna nabyta niedokrwistość syderoblastyczna","RARS"]},"cs":{"name":"Získaná idiopatická sideroblastická anémie","synonyms":["AISA","Primární získaná sideroblastická anémie","RARS","Refrakterní anémie s prstenčitými sideroblasty"]},"uk":{"name":"Набута ідіопатична сидеробластна анемія","synonyms":["AISA","Первинна набута сидеробластна анемія","RARS","Рефрактерна анемія з кільцевими сидеробластами"],"definition":"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."},"zh":{"name":"获得性特发性铁幼粒细胞性贫血","synonyms":["难治性贫血伴环状铁粒幼红细胞"]},"tr":{"name":"Edinsel idiyopatik sideroblastik anemi","synonyms":["AISA","RARS","Primer edinsel sideroblastik anemi","Halkalı sideroblastlar ile seyreden refrakter anemi"]}},"xrefs":[{"source":"ICD-10","code":"D64.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A33","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1793160341"},{"source":"MONDO","code":"0019157","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19157","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4016601","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8249","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":52688,"name":"Myelodysplastic syndrome","classifications":[194,202,233]},{"orpha":1047,"name":"Sideroblastic anemia","classifications":[194]}],"children":[],"genes":[{"symbol":"SF3B1","name":"splicing factor 3b subunit 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"24507814[PMID]","hgnc":"10768","ensembl":"ENSG00000115524","omim":"605590","loci":["2q33.1"]},{"symbol":"TET2","name":"tet methylcytosine dioxygenase 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"19557078[PMID]_19483684[PMID]","hgnc":"25941","ensembl":"ENSG00000168769","omim":"612839","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-05","source":"30725758[PMID]_1625471[PMID]_10792275[PMID]","terms":[{"hpo":"HP:0010972","label":"Anemia of inadequate production","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004828","label":"Refractory anemia with ringed sideroblasts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012132","label":"Erythroid hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200143","label":"Megaloblastic erythroid hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001895","label":"Normochromic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012143","label":"Abnormal megakaryocyte morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012137","label":"Abnormal number of granulocyte precursors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031035","label":"Chronic infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012136","label":"Dysplastic granulopoesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001931","label":"Hypochromic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011447","label":"Hyposegmentation of neutrophil nuclei","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001913","label":"Granulocytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005513","label":"Increased megakaryocyte count","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Very rare (<4-1%)","criteria":null}]}}