{"orpha":585909,"name":"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["B-ALL with t(9;22)(q34.1;q11.2)","BCR-ABL1-like B-ALL","Philadelphia chromosome-like B-ALL"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-585909/","orphanet_url":"https://www.orpha.net/en/disease/detail/585909","names":{"fr":{"name":"Leucémie/lymphome lymphoblastique B associé à t(9;22)(q34.1;q11.2)","synonyms":["Leucémie/lymphome lymphoblastique B avec t(9;22)(q34.1;q11.2)"]},"de":{"name":"B-lymphoblastische Leukämie/Lymphom mit t(9;22)(q34.1;q11.2)","synonyms":["Philadelphia-Chromosom-ähnliche B-ALL","B-ALL mit t(9;22)(q34.1;q11.2)","BCR-ABL1-ähnliche B-ALL"]},"es":{"name":"Leucemia/linfoma linfoblástico de células B con t(9;22)(q34.1;q11.2)","synonyms":["LLA-B con t(9;22)(q34.1;q11.2)","LLA-B similar a BCR-ABL1","LLA-B similar al cromosoma Filadelfia"]},"it":{"name":"'Leucemia linfoblastica a cellule B/linfoma con t(9;22)(q34.1;q11.2)'","synonyms":["LLA-B BCR-ABL1 simile","LLA-B con t(9;22)(q34.1;q11.2)","LLA-B cromosoma Philadelphia simile"]},"nl":{"name":"B-lymfoblastische leukemie/lymfoom met t(9;22)(q34.1;q11.2)","synonyms":["B-ALL met t(9;22)(q34.1;q11.2)","BCR-ABL1-achtige B-ALL","Philadelphia-chromosoomachtige B-ALL"]},"pt":{"name":"Leucemia/linfoma linfoblástico-B com t(9;22)(q34.1;q11.2)"},"pl":{"name":"Białaczka limfoblastyczna/chłoniak z komórek B z t(9;22)(q34.1;q11.2)","synonyms":["B-ALL with t(9;22)(q34.1;q11.2)","BCR-ABL1-like B-ALL","Philadelphia chromosome-like B-ALL"]},"cs":{"name":"B-lymfoblastická leukémie/lymfom s t(9;22)(q34.1;q11.2)","synonyms":["B-ALL with t(9;22)(q34.1;q11.2)","BCR-ABL1-like B-ALL","Philadelphia chromosome-like B-ALL"]},"uk":{"name":"В-лімфобластний лейкоз/лімфома з t(9;22)(q34.1;q11.2)","synonyms":["B-ALL з t(9;22)(q34.1;q11.2)","BCR-ABL1-подібний B-ALL","Філадельфійська хромосома B-ALL"]},"zh":{"name":"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)","synonyms":["B-ALL with t(9;22)(q34.1;q11.2)","BCR-ABL1-like B-ALL","Philadelphia chromosome-like B-ALL"]},"tr":{"name":"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)","synonyms":["B-ALL with t(9;22)(q34.1;q11.2)","BCR-ABL1-like B-ALL","Philadelphia chromosome-like B-ALL"]}},"xrefs":[{"source":"ICD-10","code":"C91.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A70.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"381281608"},{"source":"MONDO","code":"0035940","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680319","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":99860,"name":"Precursor B-cell acute lymphoblastic leukemia","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"CDKN2A","name":"cyclin dependent kinase inhibitor 2A","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"18838613[PMID]","hgnc":"1787","ensembl":"ENSG00000147889","omim":"600160","loci":["9p21.3"]},{"symbol":"IKZF1","name":"IKAROS family zinc finger 1","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"19129520[PMID]_23751147[PMID]_19770381[PMID]_18408710[PMID]","hgnc":"13176","ensembl":"ENSG00000185811","omim":"603023","loci":["7p12.2"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"34218582[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]},{"symbol":"FLT3","name":"fms related receptor tyrosine kinase 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"16234090[PMID]","hgnc":"3765","ensembl":"ENSG00000122025","omim":"136351","loci":["13q12.2"]},{"symbol":"HLA-C","name":"major histocompatibility complex, class I, C","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25163702[PMID]","hgnc":"4933","ensembl":"ENSG00000204525","omim":"142840","loci":["6p21.33"]},{"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":"30561755[PMID]","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":"23491079[PMID]","hgnc":"1014","ensembl":"ENSG00000186716","omim":"151410","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_WHO Classification of Tumours[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_WHO Classification of Tumours[OTHER]"}],"phenotypes":null}