{"orpha":260305,"name":"Autosomal recessive sideroblastic anemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARSA","Congenital sideroblastic anemia"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-260305/","orphanet_url":"https://www.orpha.net/en/disease/detail/260305","names":{"fr":{"name":"Anémie sidéroblastique autosomique récessive","synonyms":["ARSA","Anémie sidéroblastique congénitale"],"definition":"Anémie sidéroblastique microcytaire/hypochrome non syndromique, présente dès la petite enfance, caractérisée par une anémie microcytaire sévère, ne répondant pas à la pyridoxine, et un taux élevé de ferritine sérique."},"de":{"name":"Sideroblastische Anämie, autosomal-rezessive","synonyms":["ARSA","Sideroblastische Anämie, kongenitale"]},"es":{"name":"Anemia sideroblástica autosómica recesiva","synonyms":["ARSA","Anemia sideroblástica congénita"],"definition":"La anemia sideroblástica autosómica recesiva (ARSA; por sus siglas en inglés) congénita es una anemia sideroblástica microcítica/hipocrómica no sindrómica, presente desde la primera infancia y caracterizada por anemia microcítica grave que no responde a la piridoxina y por un aumento de la ferritina sérica."},"it":{"name":"Anemia sideroblastica autosomica recessiva","synonyms":["ARSA","Anemia sideroblastica congenita"]},"nl":{"name":"Autosomaal recessieve sideroblastische anemie","synonyms":["ARSA","Congenitale sideroblastische anemie"],"definition":"Autosomaal recessieve sideroblastische anemie (ARSA) is een niet-syndromale, microcytaire/hypochrome sideroblastische anemie, die aanwezig is vanaf de vroege kindertijd en gekenmerkt wordt door ernstige microcytaire anemie, die niet reageert op pyridoxine, en door verhoogd ferritine in het serum."},"pt":{"name":"Anemia sideroblástica autossómica recessiva","synonyms":["Anemia sideroblástica congénita autossómica recessiva"]},"pl":{"name":"Autosomalna recesywna niedokrwistość syderoblastyczna","synonyms":["ARSA","Wrodzona niedokrwistość syderoblastyczna"]},"cs":{"name":"Autozomálně recesivní sideroblastická anémie","synonyms":["ARSA","Vrozená sideroblastická anémie"]},"uk":{"name":"Аутосомно-рецесивна сидеробластна анемія","synonyms":["ARSA","Вроджена сидеробластна анемія"],"definition":"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."},"zh":{"name":"常染色体隐性遗传性铁幼粒细胞性贫血","synonyms":["先天性铁幼粒细胞性贫血"],"definition":"先天性常染色体隐性遗传性铁粒母细胞贫血(ARSA)是一种非综合征性的小细胞/低色素铁粒母细胞贫血，从婴儿期起就出现，以严重的小细胞性贫血为特征，对维生素B6无反应，血清铁蛋白升高。"},"tr":{"name":"Otozomal resesif sideroblastik anemi","synonyms":["ARSA","Doğumsal sideroblastik anemi"]}},"xrefs":[{"source":"OMIM","code":"205950","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D64.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A72.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1566521508"},{"source":"MONDO","code":"0016828","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274077","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98362,"name":"Constitutional sideroblastic anemia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"HSPA9","name":"heat shock protein family A (Hsp70) member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26491070[PMID]","hgnc":"5244","ensembl":"ENSG00000113013","omim":"600548","loci":["5q31.2"]},{"symbol":"SLC25A38","name":"solute carrier family 25 member 38","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19412178[PMID]","hgnc":"26054","ensembl":"ENSG00000144659","omim":"610819","loci":["3p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}