{"orpha":319480,"name":"Acute myeloid leukemia with CEBPA somatic mutations","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML with CEBPA somatic mutations"],"definition":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the <i>CEBPA</i> gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319480/","orphanet_url":"https://www.orpha.net/en/disease/detail/319480","names":{"fr":{"name":"Leucémie aiguë myéloïde avec mutations somatiques de CEBPA","synonyms":["AML avec mutations somatiques de CEBPA","LAM avec mutations somatiques de CEBPA"],"definition":"Un sous-type de leucémie myéloïde aigüe avec des anomalies génétiques récurrentes, caractérisé par la prolifération clonale de blastes myéloïdes portant des mutations somatiques dans le gène <i>CEBPA</i>, au niveau de la moelle osseuse, du sang, et dans de rares cas, dans d'autres tissus. Il peut se présenter par une anémie, une thrombocytopénie et d'autres symptômes non spécifiques liés à une hématopoïèse non efficace (fatigue, saignement et formation d'ecchymoses, infections récurrentes, douleur osseuse) et/ou une atteinte de sites extra-médullaires (gingivite, splénomégalie)."},"de":{"name":"Akute myeloische Leukämie mit somatischen CEBPA-Genmutationen","synonyms":["AML mit somatischen CEBPA-Genmutationen"],"definition":"Ein Subtyp der akuten myeloischen Leukämie mit rezidivierenden genetischen Anomalien, gekennzeichnet durch klonale Proliferation von myeloischen Blasten, die somatische Mutationen des <i>CEBPA</i>-Gens im Knochenmark, Blut und selten auch in anderen Geweben aufweisen. Sie kann sich mit Anämie, Thrombozytopenie und anderen unspezifischen Symptomen (Müdigkeit, Blutungen und Blutergüsse, rezidivierende Infektionen, Knochenschmerzen) präsentieren, die mit einer ineffektiven Hämatopoese zusammenhängen. Eine Beteiligung extramedullärer Organe und Regionen (Gingivitis, Splenomegalie) ist möglich."},"es":{"name":"Leucemia mieloide aguda con mutaciones somáticas en el gen CEBPA","synonyms":["MLA con mutaciones somáticas en el gen CEBPA"],"definition":"Es un subtipo de leucemia mieloide aguda con anomalías genéticas recurrentes, caracterizada por la proliferación clonal de blastos mieloides que presentan mutaciones somáticas del gen CEBPA en la médula ósea, sangre y, excepcionalmente, en otros tejidos. Se puede presentar con anemia, trombocitopenia y otros síntomas inespecíficos relacionados con hematopoyesis ineficaz (fatiga, sangrado y hematomas, infecciones recurrentes, dolor óseo) y/o afectación extramedular (gingivitis, esplenomegalia)."},"it":{"name":"Leucemia mieloide acuta con mutazioni somatiche di CEBPA","synonyms":["AML con mutazioni somatiche di CEBPA"],"definition":"La leucemia mieloide acuta con mutazioni somatiche di CEBPA è un sottotipo di leucemia mieloide acuta con anomalie genetiche ricorrenti. È caratterizzata dalla proliferazione clonale di mieloblasti che presentano mutazioni somatiche nel gene CEBPA nel midollo osseo, nel sangue e, raramente, in altri tessuti. Può esordire con anemia, trombocitopenia e altri sintomi aspecifici secondari all'ematopoiesi inefficace (affaticamento, emorragie ed ecchimosi, infezioni ricorrenti, dolore osseo) e/o ad un interessamento extramidollare (gengivite, splenomegalia)."},"nl":{"name":"Acute myeloïde leukemie met somatische CEBPA-mutaties","synonyms":["AML met somatische CEBPA-mutaties"],"definition":"Een subtype van acute myeloïde leukemie met terugkerende genetische afwijkingen, gekarakteriseerd door klonale proliferatie van myeloïde blastcellen met somatische mutaties in het gen <i>CEBPA</i> in beenmerg, bloed, en, in zeldzame gevallen, andere weefsels. Het kan zich presenteren met anemie, trombocytopenie, en andere niet-specifieke symptomen gerelateerd aan ineffectieve hematopoëse (vermoeidheid, bloeding en kneuzing, terugkerende infecties, botpijn) en/of betrokkenheid van extramedullaire regio's (gingivitis, splenomegalie)."},"pt":{"name":"Leucemia mielóide aguda com mutações somáticas CEBPA"},"pl":{"name":"Ostra białaczka szpikowa z somtycznymi mutacjami CEBPA","synonyms":["AML z somtycznymi mutacjami CEBPA"]},"cs":{"name":"Akutní myeloidní leukémie se somatickou mutací CEBPA","synonyms":["AML se somatickou mutací CEBPA"]},"uk":{"name":"Гостра мієлоїдна лейкемія з соматичними мутаціями CEBPA","synonyms":["ГМЛ з соматичними мутаціями CEBPA"],"definition":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the <i>CEBPA</i> gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)."},"zh":{"name":"CEBPA体细胞CEBPA基因突变急性髓系白血病","synonyms":["AML伴CEBPA基因体细胞突变"],"definition":"急性髓系白血病的一种亚型，具有复发性遗传异常，其特征是骨髓、血液和罕见的其他组织中出现体细胞 CEBPA基因突变，导致成髓细胞克隆性增殖。它可表现为贫血、血小板减少和其他与无效造血(疲劳、出血和瘀伤、反复感染、骨痛)和/或髓外受累(牙龈炎、脾肿大)相关的非特异性症状。"},"tr":{"name":"CEBPA somatik mutasyonlar ile seyreden akut miyeloid lösemi","synonyms":["CEBPA somatik mutasyon olan AML"]}},"xrefs":[{"source":"OMIM","code":"601626","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C92.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2074817491"},{"source":"MONDO","code":"0017894","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707178","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98277,"name":"Acute myeloid leukemia with recurrent genetic anomaly","classifications":[194,202,233]},{"orpha":322126,"name":"Genetic tumor of hematopoietic and lymphoid tissues","classifications":[156]}],"children":[],"genes":[{"symbol":"CEBPA","name":"CCAAT enhancer binding protein alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"19357394[PMID]_22649106[PMID]","hgnc":"1833","ensembl":"ENSG00000245848","omim":"116897","loci":["19q13.11"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}