{"orpha":98835,"name":"Acute undifferentiated leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acute myeloid leukemia, minimal differentiation, FAB M0"],"definition":"A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98835/","orphanet_url":"https://www.orpha.net/en/disease/detail/98835","names":{"fr":{"name":"Leucémie aiguë non différenciée","synonyms":["Leucémie myéloïde aiguë avec différenciation minimale (FAB M0)"],"definition":"Leucémie aiguë rare de lignée ambiguë caractérisée par une prolifération clonale de cellules hématopoïétiques primitives, principalement dans la moelle osseuse et le sang, dépourvue de marqueurs spécifiques à la lignée et d'altérations génotypiques détectables. Les patients présentent une leucocytose, une anémie, une numération plaquettaire variable et divers symptômes non spécifiques liés à une hématopoïèse inefficace (fatigue, saignements et ecchymoses, infections récurrentes, douleurs osseuses) et/ou à une atteinte extra-médullaire (lymphadénopathie, splénomégalie, hépatomégalie)."},"de":{"name":"Leukämie, akute undifferenzierte","synonyms":["Minimal differenzierte akute myeloische Leukämie, FAB M0"],"definition":"Eine seltene akute Leukämie unklarer Abstammung, die durch eine klonale Proliferation primitiver hämatopoetischer Zellen, vor allem im Knochenmark und im Blut, gekennzeichnet ist und keine abstammungsspezifischen Marker und nachweisbaren genotypischen Veränderungen aufweist. Die Patienten präsentieren sich mit Leukozytose, Anämie, variabler Thrombozytenzahl und einer Vielzahl unspezifischer Symptome im Zusammenhang mit ineffektiver Hämatopoese (Müdigkeit, Blutungen und Blutergüsse, rezidivierende Infektionen, Knochenschmerzen) und/oder extramedullärer Beteiligung (Lymphadenopathie, Splenomegalie, Hepatomegalie)."},"es":{"name":"Leucemia aguda indiferenciada","synonyms":["Leucemia mieloide aguda, diferenciación mínima, FAB M0"],"definition":"Es una leucemia aguda poco frecuente de linea ambigua caracterizada por la proliferación clonal de células hematopoyéticas primitivas, principalmente en médula ósea y sangre, que carecen de marcadores específicos de línea y alteraciones genotípicas detectables. Los afectados presentan leucocitosis, anemia, recuento plaquetario variable y una variedad de síntomas inespecíficos relacionados con hematopoyesis ineficaz (fatiga, sangrado y hematomas, infecciones recurrentes, dolor óseo) y/o afectación extramedular (linfadenopatía, esplenomegalia, hepatomegalia)."},"it":{"name":"Leucemia acuta indifferenziata","definition":"La leucemia acuta indifferenziata è una leucemia acuta rara di una linea cellulare non definita, caratterizzata dalla proliferazione clonale di cellule ematopoietiche primitive, soprattutto nel midollo osseo e nel sangue, in assenza di marcatori specifici di una linea cellulare definita e di alterazioni genotipiche rilevabili. I pazienti presentano leucocitosi, anemia, un numero variabile di piastrine e vari sintomi aspecifici secondari ad una ematopoiesi inefficace (affaticamento, emorragie ed ecchimosi, infezioni ricorrenti, dolore osseo) e/o all'interessamento extramidollare (linfoadenopatia, splenomegalia, epatomegalia)."},"nl":{"name":"Acute ongedifferentieerde leukemie","synonyms":["Acute myeloïde leukemie, minimale differentiatie, FAB MO"],"definition":"Een zeldzame, acute leukemie van ambigue oorsprong, gekarakteriseerd door klonale proliferatie van primitieve hematopoëtische cellen, voornamelijk in beenmerg en bloed, die cellijnspecifieke merkers en detecteerbare genotypische veranderingen missen. De patiënten vertonen leukocytose, anemie, een variabel aantal bloedplaatjes, en een verscheidenheid aan niet-specifieke symptomen gerelateerd aan ineffectieve hematopoëse (vermoeidheid, bloeding en kneuzing, terugkerende infecties, botpijn) en/of betrokkenheid van extramedullaire gebieden (lymfadenopathie, splenomegalie, hepatomegalie)."},"pt":{"name":"Leucemia, indiferenciada, aguda"},"pl":{"name":"Ostra białaczka niezróżnicowana","synonyms":["Acute myeloid leukemia, minimal differentiation, FAB M0"]},"cs":{"name":"Akutní nediferencovaná leukémie","synonyms":["Acute myeloid leukemia, minimal differentiation, FAB M0"]},"uk":{"name":"Гострий недиференційований лейкоз","synonyms":["Гостра мієлоїдна лейкемія, мінімальна диференціація, FAB M0"],"definition":"A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly)."},"zh":{"name":"急性未分化白血病","synonyms":["微分化急性髓系白血病FAB M0型"],"definition":"该病是一种谱系不明的罕见的急性白血病，其特征是在骨髓和血液中原始造血细胞克隆性增殖，没有谱系特异性标记和可检测到的基因型改变。患者出现白细胞增多、贫血、血小板计数变化和各种与无效造血相关的非特异性症状(乏力、出血和瘀伤、反复感染、骨痛)和/或髓外部位受累(淋巴结病、脾肿大、肝肿大)。"},"tr":{"name":"Akut farklılaşmamış lösemi","synonyms":["Akut miyeloid lösemi, minimal farklılaşma, FAB M0"]}},"xrefs":[{"source":"OMIM","code":"601626","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C95.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B33.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020321","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0280141","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073479","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":86851,"name":"Acute leukemia of ambiguous lineage","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"KMT2A","name":"lysine methyltransferase 2A","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"11579461[PMID]","hgnc":"7132","ensembl":"ENSG00000118058","omim":"159555","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}