{"orpha":402017,"name":"Acute myeloid leukemia with t(9;11)(p22;q23)","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML with t(9;11)(p22;q23)"],"definition":"A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-402017/","orphanet_url":"https://www.orpha.net/en/disease/detail/402017","names":{"fr":{"name":"Leucémie myéloïde aiguë associée à t(9;11)(p22;q23)","definition":"Tumeur des tissus lymphoïde et hématopoïétique caractérisée par la translocation la plus fréquente du groupe de gènes <i>MLL</i> à l'origine de la leucémie myéloïde aiguë (LMA), entraînant la formation de la protéine de fusion MLLT3-MLL. La tumeur peut survenir soit en tant que néoplasme primitif ou après un traitement par chimiothérapie/radiothérapie. Dues à l'accumulation de cellules myéloïdes malignes dans la moelle osseuse, le sang périphérique, ainsi qu'au sein d'autres organes, les manifestations cliniques comprennent leucocytose, anémie, thrombocytopénie, fièvre, douleurs osseuses, fatigue, pâleur, tendance aux ecchymoses et saignements fréquents."},"de":{"name":"Akute myeloische Leukämie mit t(9;11)(p22;q23)","synonyms":["AML mit t(9;11)(p22;q23)"],"definition":"Ein Tumor des hämatopoetischen und lymphatischen Gewebes, der durch die häufigste AML-verursachende MLL-Translokation gekennzeichnet ist, die zu dem MLL-MLLT3-Fusionsprotein führt. Sie kann entweder als primäre Neoplasie oder sekundär nach einer vorangegangenen Chemo-/Bestrahlungstherapie auftreten. Die klinischen Manifestationen resultieren aus der Anhäufung bösartiger myeloischer Zellen im Knochenmark, im peripheren Blut und in anderen Organen und umfassen Leukozytose, Anämie, Thrombozytopenie, Fieber, Knochenschmerzen, Müdigkeit, Blässe, leichte Blutergüsse und häufige Blutungen."},"es":{"name":"Leucemia mieloide aguda con t(9;11)(p22;q23)","synonyms":["LMA con t(9;11)(p22;q23)"],"definition":"Es un tumor derivado de tejidos hematopoyéticos y linfoides caracterizado por presentar la translocación MLL más frecuente causante de LMA , que resulta en la proteína de fusión MLL-MLLT3. La enfermedad puede desarrollarse como una neoplasia primaria o secundaria a un tratamiento previo de quimio- / radioterapia. Las manifestaciones clínicas resultan del acúmulo de células mieloides malignas en la médula ósea, sangre periférica y en otros órganos e incluyen leucocitosis, anemia, trombocitopenia, fiebre, dolor óseo, fatiga, palidez, propensión a hematomas y a hemorragias."},"it":{"name":"Leucemia mieloide acuta con t(9;11)(p22;q23)","synonyms":["AML con t(9;11)(p22;q23)"],"definition":"È una neoplasia dei tessuti ematopoietici e linfoidi, caratterizzata dalla traslocazione MML, la causa più comune della leucemia mieloide acuta, che esita nella proteina da fusione MLL-MLLT3. Può esordire come neoplasia primitiva oppure secondaria, dopo un trattamento chemioterapico/radioterapico. I segni clinici, secondari all'accumulo di cellule mieloidi maligne nel midollo osseo, nel sangue periferico e in altri organi, comprendono la leucocitosi, l'anemia, la trombocitopenia, la febbre, il dolore osseo, l'affaticamento, il pallore, la tendenza alle ecchimosi e le emorragie frequenti."},"nl":{"name":"Acute myeloïde leukemie met t(9;11)(p22;q23)","synonyms":["AML met t(9;11)(p22;q23)"],"definition":"Een tumor van hematopoëtische en lymfoïde weefsels, gekarakteriseerd door de meest gangbare MLL translocatie die AML veroorzaakt en leidt tot het MLL-MLLT3 fusieproteïne. Het kan voorkomen als een primair neoplasma of secundair aan voorgaande chemo-/stralingstherapie. De klinische manifestaties zijn het gevolg van accumulatie van maligne myeloïde cellen in beenmerg, perifeer bloed en andere organen, en omvatten leukocytose, anemie, trombocytopenie, koorts, botpijn, vermoeidheid, bleekheid, snelle kneuzingen en frequente bloedingen."},"pt":{"name":"Leucemia mieloide aguda com t(9;11)(p22;q23)"},"pl":{"name":"Ostra białaczka szpikowa z t(9;11)(p22;q23)","synonyms":["AML z t(9;11)(p22;q23)"]},"cs":{"name":"Akutní myeloidní leukémie s t(9;11)(p22;q23)","synonyms":["AML s t(9;11)(p22;q23)"]},"uk":{"name":"Гостра мієлоїдна лейкемія з t(9;11)(p22;q23)","synonyms":["AML з t(9;11)(p22;q23)"],"definition":"A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding."},"zh":{"name":"急性髓系白血病伴t(9;11)(p22;q23)变异","synonyms":["AML伴t(9;11)(p22;q23)"],"definition":"为造血和淋巴组织肿瘤，其特征是的最常引起AML的MLL易位，产生MLL-MLLT3融合蛋白。它可以作为原发性肿瘤发生，也可以继发于先前的化学/放射治疗。临床表现是骨髓，外周血和其他器官中恶性髓系细胞的积累，临床表现包括白细胞增多，贫血，血小板减少，发烧，骨痛，疲劳，面色苍白，易瘀伤和频繁出血。"},"tr":{"name":"t(9; 11) (p22; q23) ile seyreden akut miyeloid lösemi","synonyms":["t(9;11)(p22;q23) ile seyreden AML"]}},"xrefs":[{"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":"1939292379"},{"source":"MONDO","code":"0018434","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2919692","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":"Part of a fusion gene in","status":"Assessed","source":"19357394[PMID]","hgnc":"7132","ensembl":"ENSG00000118058","omim":"159555","loci":["11q23.3"]},{"symbol":"MLLT3","name":"MLLT3 super elongation complex subunit","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19357394[PMID]","hgnc":"7136","ensembl":"ENSG00000171843","omim":"159558","loci":["9p21.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}