{"orpha":318,"name":"Acute erythroid leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML M6","Acute myeloid leukemia M6","Erythroleukemia"],"definition":"A rare unclassified acute myeloid leukemia characterized by a proliferation of immature cells exclusively of the erythroid lineage without a significant myeloblastic component. Microscopically, the cells may be undifferentiated or proerythroblastic in appearance. Patients may present with pancytopenia with fatigue, infections, and mucocutaneous bleedings, as well as weight loss, fever, and night sweats. Prognosis is poor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-318/","orphanet_url":"https://www.orpha.net/en/disease/detail/318","names":{"fr":{"name":"Leucémie érythroblastique","synonyms":["Erythroleucémie","LAM M6","Leucémie aiguë myéloïde M6"],"definition":"Leucémie myéloïde aiguë rare non-classifiée caractérisée par une prolifération de cellules immatures appartenant exclusivement à la lignée érythroïde, sans composant myéloblastique significatif. Au microscope, on peut observer des cellules indifférenciées ou d'apparence proérythroblastique. Les patients peuvent manifester une pancytopénie accompagnée de fatigue, d'infections, des saignements cutanéo-muqueux, ainsi qu'une perte de poids, de la fièvre et des sueurs nocturnes. Le pronostic est réservé."},"de":{"name":"Akute Erythroleukämie","synonyms":["AML-M6","Erythroleukämie","Leukämie, akute myeloische, Typ 6"],"definition":"Eine seltene, nicht klassifizierte akute myeloische Leukämie, die durch eine Proliferation unreifer Zellen gekennzeichnet ist, die ausschließlich der erythroiden Linie angehören, ohne eine signifikante myeloblastische Komponente. Mikroskopisch können die Zellen undifferenziert oder proerythroblastisch aussehen. Die Patienten können eine Panzytopenie mit Müdigkeit, Infektionen und mukokutanen Blutungen sowie Gewichtsverlust, Fieber und Nachtschweiß aufweisen. Die Prognose ist schlecht."},"es":{"name":"Leucemia eritroide aguda","synonyms":["Eritroleucemia","Leucemia mieloblástica aguda tipo 6","MLA-M6"],"definition":"Es una leucemia mieloide aguda no clasificada poco frecuente caracterizada por la proliferación de células inmaduras, exclusivamente de la línea eritroide, sin un componente mieloblástico significativo. Microscópicamente, las células pueden mostrar un aspecto indiferenciado o pro-eritroblástico. Los pacientes pueden presentarse con pancitopenia acompañada de cansancio, infecciones y hemorragias mucocutáneas, así como pérdida de peso, fiebre y sudoración nocturna. El pronóstico es desfavorable."},"it":{"name":"Leucemia eritroide acuta","synonyms":["AML-M6","Eritroleucemia","Leucemia mieloblastica acuta, tipo 6"],"definition":"Si tratta di una leucemia mieloide rara, acuta e non classificata, caratterizzata dalla proliferazione di cellule immature della linea eritroide, in assenza di una componente mieloblastica significativa. Al microscopio le cellule hanno un aspetto indifferenziato o proeritroblastico. I pazienti presentano pancitopenia associata ad affaticamento, infezioni ed emorragie muco-cutanee, perdita di peso, febbre e sudorazione notturna. La prognosi è sfavorevole."},"nl":{"name":"Acute erytroïde leukemie","synonyms":["AML-M6","Acute myeloblastische leukemie type 6","Erytroleukemie"],"definition":"Een zeldzame niet-geclassificeerde acute myeloïde leukemie, gekarakteriseerd door een proliferatie van onrijpe cellen van uitsluitend erytroïde cellijn zonder een significante myeloblastische component. Microscopisch kunnen de cellen er niet-gedifferentieerd of pro-erytroblastisch uitzien. Patiënten presenteren zich mogelijk met pancytopenie met vermoeidheid, infectie, en mucocutane bloeding, alsook gewichtsverlies, koorts, en nachtzweten. De prognose is ongunstig."},"pt":{"name":"Leucemia eritroblástica aguda","synonyms":["Leucemia mieloblástica aguda tipo 6"]},"pl":{"name":"Ostra erytroleukemia","synonyms":["AML-M6","Erytroleukemia","Ostra białaczka mieloblastyczna typu 6"]},"cs":{"name":"Akutní erytroidní leukémie","synonyms":["AML M6","Akutní myeloidní leukémie M6","Erytroleukémie"]},"uk":{"name":"Гострий еритроїдний лейкоз","synonyms":["Гостра мієлоїдна лейкемія M6","AML M6","Еритролейкоз"],"definition":"A rare unclassified acute myeloid leukemia characterized by a proliferation of immature cells exclusively of the erythroid lineage without a significant myeloblastic component. Microscopically, the cells may be undifferentiated or proerythroblastic in appearance. Patients may present with pancytopenia with fatigue, infections, and mucocutaneous bleedings, as well as weight loss, fever, and night sweats. Prognosis is poor."},"zh":{"name":"急性红白血病","synonyms":["急性髓系白血病M6"]},"tr":{"name":"Akut eritroid lösemi","synonyms":["AML M6","Eritrolösemi","Akut miyeloid lösemi M6"]}},"xrefs":[{"source":"OMIM","code":"133180","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C94.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.35","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"631263622"},{"source":"MONDO","code":"0017858","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004915","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023440","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9620","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000739","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"WHO Classification of Tumours[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"WHO Classification of Tumours[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-03","source":"28006859[PMID]_6589033[PMID]_3471269[PMID]_6948132[PMID]","terms":[{"hpo":"HP:0025035","label":"Abnormal proerythroblast morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031020","label":"Bone marrow hypercellularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012133","label":"Erythroid hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005508","label":"Monoclonal immunoglobulin M proteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004828","label":"Refractory anemia with ringed sideroblasts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Occasional (29-5%)","criteria":null}]}}