{"orpha":98831,"name":"Acute myeloid leukemia with 11q23 abnormalities","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML with 11q23 abnormalities"],"definition":"A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98831/","orphanet_url":"https://www.orpha.net/en/disease/detail/98831","names":{"fr":{"name":"Leucémie aiguë myéloïde associée à des anomalies en 11q23","definition":"Tumeur rare des tissus lymphoïde et hématopoïétique caractérisée par la prolifération et différentiation anormales d'une population clonale de cellules souches myéloïdes porteuses d'anomalies non spécifiques en 11q23. Dues à l'accumulation de cellules myéloïdes malignes dans la moelle osseuse, le sang périphérique et d'autres organes, les manifestations cliniques comprennent leucocytose, anémie, thrombocytopénie, fatigue, anorexie et perte de poids."},"de":{"name":"AML mit 11q23-Anomalien"},"es":{"name":"Leucemia mieloide aguda por anomalías en 11q23","synonyms":["LMA con anomalías 11q23"],"definition":"Es un tumor de los tejidos hematopoyético y linfoide que se caracteriza por proliferación y diferenciación anómalas de una población clonal de células madre mieloides que presentan anomalías inespecíficas en 11q23. Las manifestaciones clínicas son el resultado de la acumulación de células mieloides malignas en la médula ósea, sangre periférica y en otros órganos, e incluyen leucocitosis, anemia, trombocitopenia, fatiga, anorexia y pérdida de peso."},"it":{"name":"Leucemia mieloide acuta con anomalie di 11q23","synonyms":["AML con anomalie 11q23"],"definition":"La leucemia mieloide acuta con anomalie della regione 11q23 è una neoplasia dei tessuti ematopoietici e linfoidi, caratterizzata da anomalie della proliferazione e della differenziazione di una popolazione clonale di cellule staminali mieloidi con anomalie aspecifiche di 11q23. I segni clinici sono secondari all'accumulo di cellule mieloidi maligne nel midollo osseo, nel sangue periferico e in altri organi, e comprendono la leucocitosi, l'anemia, la trombocitopenia, l'affaticamento, l'anoressia e la perdita di peso."},"nl":{"name":"Acute myeloïde leukemie met 11q23-anomalieën","synonyms":["AML met 11q23-anomalieën"],"definition":"Een zeldzame tumor die ontstaat uit hematopoëtische en lymfoïde weefsels, en die gekarakteriseerd wordt door abnormale proliferatie en differentiatie van een klonale populatie van myeloïde stamcellen die niet-specifieke 11q23-afwijkingen dragen. De klinische manifestaties zijn het gevolg van accumulatie van maligne myeloïde cellen in beenmerg, perifeer bloed en andere organen, en omvatten leukocytose, anemie, trombocytopenie, vermoeidheid, anorexie en gewichtsverlies."},"pt":{"name":"Leucemia mielóide, aguda, com anomalias 11q23"},"pl":{"name":"Ostra białaczka szpikowa z nieprawidłowościami 11q23","synonyms":["AML z nieprawidłowościami 11q23"],"definition":"*Ostra białaczka szpikowa z nieprawidłowościami 11q23 jest guzem tkanek krwiotwórczych i limfoidalnych, który charakteryzuje się nieprawidłową proliferacją, jak i różnicowaniem klonalnej populacji komórek macierzystych szpiku, z towarzyszącymi nieswoistymi nieprawidłowościami 11q23. Objawy kliniczne wynikają z gromadzenia się złośliwych mieloidalnych komórek w szpiku kostnym, krwi obwodowej i innych narządach; występuje leukocytoza, niedokrwistość, trombocytopenia, zmęczenie, anoreksja i utrata wagi."},"cs":{"name":"Akutní myeloidní leukémie s abnormalitami 11q23","synonyms":["AMS s abnormalitami 11q23"]},"uk":{"name":"Гостра мієлоїдна лейкемія з аномаліями 11q23","synonyms":["ГМЛ з аномаліями 11q23"],"definition":"A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss."},"zh":{"name":"急性髓系白血病伴11q23异常","synonyms":["AML伴11q23异常"],"definition":"该病是一种罕见的肿瘤，起源于造血和淋巴组织，其特征是携带非特异性11q23异常的髓系干细胞异常克隆增殖和分化。临床表现为恶性髓系细胞在骨髓、外周血和其他器官积聚，包括白细胞增多、贫血、血小板减少、疲劳、食欲不振和体重减轻。"},"tr":{"name":"11q23 anormallikleri ile seyreden akut miyeloid lösemi","synonyms":["11q23 anormallikleri ile seyreden AML"]}},"xrefs":[{"source":"ICD-10","code":"C92.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A60.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1939292379"},{"source":"ICD-11","code":"XH1E41","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"461722760"},{"source":"MONDO","code":"0020317","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1292775","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]}],"children":[],"genes":[{"symbol":"KMT2A","name":"lysine methyltransferase 2A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"7132","ensembl":"ENSG00000118058","omim":"159555","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}