{"orpha":521,"name":"Chronic myeloid leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CML","Chronic granulocytic leukemia","Chronic myelogenous leukemia"],"definition":"Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-521/","orphanet_url":"https://www.orpha.net/en/disease/detail/521","names":{"fr":{"name":"Leucémie myéloïde chronique","synonyms":["LMC","Leucémie granulocytique chronique","Leucémie myélogène chronique"],"definition":"La leucémie myéloïde chronique (LMC) est le syndrome myéloprolifératif le plus fréquent, représentant 15 à 20% de tous les cas de leucémie."},"de":{"name":"Leukämie, chronische myeloische","synonyms":["CML","Leukämie, chronische granulozytäre","Leukämie, chronische myelogene"],"definition":"Die Chronische myeloische Leukämie (CML) ist die häufigste myeloproliferative Erkrankung und macht 15-20% aller Fälle von Leukämie aus."},"es":{"name":"Leucemia mieloide crónica","synonyms":["LMC","Leucemia granulocítica crónica","Leucemia mielógena crónica"],"definition":"Es el trastorno mieloproliferativo más común, representando un 15-20% de todos los casos de leucemia."},"it":{"name":"Leucemia mieloide cronica","synonyms":["CML","Leucemia granulocitica cronica","Leucemia mielogena cronica"]},"nl":{"name":"Chronische myeloïde leukemie","synonyms":["CML","Chronische granulocytaire leukemie","Chronische myelogene leukemie"],"definition":"Chronische myeloïde leukemie (CML) is de meest voorkomende myeloproliferatieve aandoening, en vertegenwoordigt 15-20% van alle gevallen van leukemie."},"pt":{"name":"Leucemia mielóide crónica"},"pl":{"name":"Przewlekła białaczka szpikowa","synonyms":["Przewlekła białaczka granulocytowa","Przewlekła białaczka mielogeniczna"]},"cs":{"name":"Chronická myeloidní leukémie","synonyms":["CML","Chronická granulocytická leukémie","Chronická myelogenní leukémie"]},"uk":{"name":"Хронічна мієлоїдна лейкемія","synonyms":["Хронічна гранулоцитарна лейкемія","Хронічна мієлогенна лейкемія","CML"],"definition":"Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases."},"zh":{"name":"慢性髓系白血病","synonyms":["慢性粒细胞白血病"]},"tr":{"name":"Kronik miyeloid lösemi","synonyms":["CML","Kronik miyelojen lösemi","Kronik granülositik lösemi"]}},"xrefs":[{"source":"OMIM","code":"608232","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C92.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2B33.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"596808334"},{"source":"ICD-11","code":"XH4XG8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1924912548"},{"source":"MONDO","code":"0011996","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11996","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0279543","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6105","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10009013","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98274,"name":"Myeloproliferative neoplasm","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"RUNX1","name":"RUNX family transcription factor 1","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"22318203[PMID]","hgnc":"10471","ensembl":"ENSG00000159216","omim":"151385","loci":["21q22.12"]},{"symbol":"ABL1","name":"ABL proto-oncogene 1, non-receptor tyrosine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"76","ensembl":"ENSG00000097007","omim":"189980","loci":["9q34.12"]},{"symbol":"BCR","name":"BCR activator of RhoGEF and GTPase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"1014","ensembl":"ENSG00000186716","omim":"151410","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.25,"area":"France","status":"Validated","source":"OTHERitut National du Cancer 2013[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.63,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.25,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"United States","status":"Validated","source":"SEER Surveillance Epidemiology and End Results Program 2008-2012[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-06","source":"23125546[PMID]","terms":[{"hpo":"HP:0005547","label":"Myeloproliferative disorder","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001912","label":"Abnormality of basophils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001911","label":"Abnormality of granulocytes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Frequent (79-30%)","criteria":null}]}}