{"orpha":329469,"name":"Acute megakaryoblastic leukemia in children without Down syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Acute megakaryoblastic leukemia in children without trisomy 21","Non-DS-AMKL"],"definition":null,"note":"This disease is described under Acute megakaryoblastic leukemia","url":"https://raremap.alftech.space/d/ORPHA-329469/","orphanet_url":"https://www.orpha.net/en/disease/detail/329469","names":{"fr":{"name":"Leucémie aiguë mégacaryoblastique de l'enfant sans syndrome de Down","synonyms":["Leucémie aiguë mégacaryoblastique de l'enfant sans trisomie 21","Non-DS-AMKL"]},"de":{"name":"Akute megakaryoblastische Leukämie bei Kindern ohne Down-Syndrom","synonyms":["Akute Megakaryoblasten-Leukämie bei Kindern ohne Trisomie 21","Non-DS-AMKL"]},"es":{"name":"Leucemia megacarioblástica aguda en niños sin síndrome de Down","synonyms":["LMCA sin SD","Leucemia megacarioblástica aguda en niños sin trisomía 21"]},"it":{"name":"Leucemia megacarioblastica acuta nei bambini senza sindrome di Down","synonyms":["AMKL non-DS","Leucemia megacarioblastica acuta nei bambini senza trisomia 21"]},"nl":{"name":"Acute megakaryoblastische leukemie bij kinderen zonder syndroom van Down","synonyms":["Acute megakaryoblastaire leukemie bij kinderen zonder syndroom van Down","Acute megakaryoblastische leukemie bij kinderen zonder trisomie 21","Non-DS-AMKL"]},"pt":{"name":"Leucemia megacarioblastica aguda em crianças sem síndrome Down","synonyms":["AMKL não-DS","Leucemia megacarioblastica aguda em crianças sem trissomia 21"]},"pl":{"name":"Ostra białaczka megakarioblastyczna bez zespołu Downa","synonyms":["Non-DS-AMKL","Ostra białaczka megakarioblastyczna u dzieci bez zespołu Downa"]},"cs":{"name":"Akutní megakaryoblastická leukémie bez Downova syndromu","synonyms":["Non-DS-AMKL"]},"uk":{"name":"Гостра мегакаріобластна лейкемія у дітей без синдрому Дауна","synonyms":["Гостра мегакаріобластна лейкемія у дітей без трисомії 21","Не-DS-AMKL"]},"zh":{"name":"急性巨核细胞白血病不伴唐氏综合征","synonyms":["不伴唐氏综合征型AMKL"]},"tr":{"name":"Down sendromu olmayan akut megakaryoblastik lösemi","synonyms":["Non-DS-AMKL"]}},"xrefs":[{"source":"ICD-10","code":"C94.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.36","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018004","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679860","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":518,"name":"Acute megakaryoblastic leukemia","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"CBFA2T3","name":"CBFA2/RUNX1 partner transcriptional co-repressor 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23153540[PMID]","hgnc":"1537","ensembl":"ENSG00000129993","omim":"603870","loci":["16q24.3"]},{"symbol":"GLIS2","name":"GLIS family zinc finger 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23153540[PMID]","hgnc":"29450","ensembl":"ENSG00000126603","omim":"608539","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}