{"orpha":98833,"name":"Acute myeloblastic leukemia without maturation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML M1","Acute myeloblastic leukemia M1"],"definition":"A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98833/","orphanet_url":"https://www.orpha.net/en/disease/detail/98833","names":{"fr":{"name":"Leucémie myéloblastique aiguë sans maturation","synonyms":["AML M1","LAM M1","Leucémie myéloblastique aiguë type 1"],"definition":"Leucémie aiguë myéloïde rare caractérisée par l'absence de signes significatifs de maturation myéloïde et par la présence de plus de 90 % de cellules blastiques dans la population non-érythroïde. Une anémie, une thrombocytopénie ou une pancytopénie de degrés divers sont présentes. Les manifestations cliniques fréquemment observées sont une fatigue, une fièvre, des troubles de la coagulation et une organomégalie, en particulier une hépatosplénomégalie."},"de":{"name":"Leukämie, akute myeloische, ohne Ausreifung","synonyms":["AML M1","Akute myeloische Leukämie M1"]},"es":{"name":"Leucemia mieloblástica aguda sin maduración","synonyms":["AML M1","Leucemia mielobástica aguda M1"],"definition":"Es una leucemia mieloide aguda poco frecuente caracterizada por carecer de una maduración mieloide significativa y contar con más del 90% de células blásticas de población no eritroide. Los pacientes afectos presentan grados variables de anemia, trombocitopenia o pancitopenia. Las manifestaciones clínicas frecuentes incluyen fatiga, fiebre, trastornos de la coagulación y organomegalia, especialmente hepatoesplenomegalia."},"it":{"name":"Leucemia mieloblastica acuta senza maturazione","synonyms":["AML M1","Leucemia mieloblastica acuta M1","Leucemia mieloide acuta associata alla traslocazione t (8;21) (q22;q22)"],"definition":"La leucemia mieloblastica acuta senza maturazione è una leucemia mieloide acuta rara, caratterizzata dall'assenza di maturazione mieloide significativa e con la presenza di oltre il 90% di blasti nella popolazione non eritroide. I pazienti presentano anemia, trombocitopenia o pancitopenia di grado variabile. I segni clinici più frequenti sono l'affaticamento, la febbre, le emorragie e l'organomegalia, in particolare l'epatosplenomegalia."},"nl":{"name":"Acute myeloblastische leukemie zonder maturatie","synonyms":["AML M1","Acute myeloblastische leukemie M1"],"definition":"Een zeldzame, acute myeloïde leukemie, gekarakteriseerd door afwezigheid van significante myeloïde maturatie en meer dan 90% blastcellen in de niet-erytroïde populatie. Er zijn verschillende gradaties van anemie, trombocytopenie, of pancytopenie aanwezig. Frequente klinische manifestaties zijn onder meer vermoeidheid, koorts, bloedingsstoornissen en organomegalie, voornamelijk hepatosplenomegalie."},"pt":{"name":"Leucemia mieloblástica, aguda, sem maturação"},"pl":{"name":"Ostra białaczka mieloblastyczna bez cech dojrzewania","synonyms":["AML M1","Ostra białaczka mieloblastyczna M1"],"definition":"*Ostra białaczka mieloblastyczna bez cech dojrzewania jest rzadką, ostrą białaczką szpikową, która charakteryzuje się brakiem dojrzewania szpiku i obecnością ponad 90% komórek blastycznych w pozaerytrocytarnych populacjach komórek szpiku. W obrazie klinicznym obserwuje się niedokrwistość, trombocytopenię lub pancytopenię o różnym stopniu nasilenia. Często obserwowane objawy kliniczne obejmują zmęczenie, gorączkę, krwawienia oraz powiększenie narządów wewnętrznych, zwłaszcza wątroby i śledziony."},"cs":{"name":"Akutní myeloblastická leukémie bez vyzrávání","synonyms":["AML M1","Akutní myeloblastická leukémie M1"]},"uk":{"name":"Гостра мієлобластна лейкемія без дозрівання","synonyms":["Гострий мієлобластний лейкоз M1","ГМЛ M1"],"definition":"A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly."},"zh":{"name":"急性粒细胞白血病未分化型","synonyms":["M2型急性髓性白血病"],"definition":"该病是一种罕见的急性髓系白血病，其特征是髓系成熟不明显，在非红系细胞中有超过90%的原始细胞。患者存在不同程度的贫血、血小板减少或全血细胞减少，常见的临床表现包括乏力、发热、出血障碍和器官肿大，尤其是肝脾肿大"},"tr":{"name":"Olgunlaşmamış akut miyeloblastik lösemi","synonyms":["AML M1","Akut miyeloblastik lösemi M1"]}},"xrefs":[{"source":"ICD-10","code":"C92.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"557834532"},{"source":"MONDO","code":"0005224","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026998","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"526","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":167714,"name":"Unclassified acute myeloid leukemia","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"FLT3","name":"fms related receptor tyrosine kinase 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22338050[PMID]","hgnc":"3765","ensembl":"ENSG00000122025","omim":"136351","loci":["13q12.2"]},{"symbol":"NPM1","name":"nucleophosmin 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Not yet assessed","source":"22338050[PMID]","hgnc":"7910","ensembl":"ENSG00000181163","omim":"164040","loci":["5q35.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}