{"orpha":52416,"name":"Mantle cell lymphoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LCM","MCL","Mantle zone lymphoma"],"definition":"Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52416/","orphanet_url":"https://www.orpha.net/en/disease/detail/52416","names":{"fr":{"name":"Lymphome à cellules du manteau","synonyms":["MCL"],"definition":"Le lymphome à cellules du manteau est une forme rare de lymphome malin non-Hodgkinien qui affecte les lymphocytes B dans une région du ganglion lymphatique, nommée « zone du manteau »."},"de":{"name":"Mantelzell-Lymphom","synonyms":["MCL"],"definition":"Das Mantelzell-Lymphom (MCL) ist eine seltene Form des malignen Non-Hodgkin-Lymphoms (s. dort) mit Beteiligung der B-Lymphozyten aus einer Region der Lymphknoten, die als 'Mantelzone' bezeichnet wird. Das MCL macht 2-10% aller Lymphome aus."},"es":{"name":"Linfoma de células del manto","synonyms":["LCM","Linfoma de la zona del manto","MCL"],"definition":"El linfoma de células del manto es una forma rara del linfoma maligno no Hodgkin (ver este término), que afecta a los linfocitos B en una región de los ganglios linfáticos llamada ``zona del manto''."},"it":{"name":"Linfoma a cellule mantellari","synonyms":["LCM","Linfoma della zona mantellare","MCL"]},"nl":{"name":"Mantelcellymfoom","synonyms":["LCM","MCL","Mantelzonelymfoom"],"definition":"Een zeldzame vorm van maligne non-Hodgkin-lymfoom, die B-lymfocyten in de mantelzone van lymfeklieren aantast."},"pt":{"name":"Linfoma das células do manto"},"pl":{"name":"Chłoniak z komórek płaszcza","synonyms":["Chłoniak strefy brzeżnej","LCM","MCL"]},"cs":{"name":"Lymfom z plášťových buněk","synonyms":["LCM","MCL","Lymfom z buněk plášťové zóny"]},"uk":{"name":"Лімфома з мантійних клітин","synonyms":["LCM","Лімфома мантійної зони","MCL"],"definition":"Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''."},"zh":{"name":"套细胞淋巴瘤","synonyms":["套区淋巴瘤"]},"tr":{"name":"Manto hücreli lenfoma","synonyms":["LCM","MCL","Mantle zon lenfoması"]}},"xrefs":[{"source":"ICD-10","code":"C83.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A85.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1804127841"},{"source":"MONDO","code":"0018876","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020522","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4721414","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6969","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10061275","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":300846,"name":"Aggressive B-cell non-Hodgkin lymphoma","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"ATM","name":"ATM serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"10706620[PMID]","hgnc":"795","ensembl":"ENSG00000149311","omim":"607585","loci":["11q22.3"]},{"symbol":"CCND1","name":"cyclin D1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":null,"hgnc":"1582","ensembl":"ENSG00000110092","omim":"168461","loci":["11q13.3"]},{"symbol":"IGH","name":"immunoglobulin heavy locus","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"12601901[PMID]_11245476[PMID]","hgnc":"5477","ensembl":null,"omim":"146910","loci":["14q32.33"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.05,"area":"France","status":"Validated","source":"OTHERitut National du Cancer 2013[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"United States","status":"Validated","source":"28444739[PMID]_SEER Surveillance Epidemiology and End Results 2007-2013[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Europe","status":"Validated","source":"[EXPERT]_European Medicines Agency 2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12548600[PMID]","terms":[{"hpo":"HP:0012191","label":"B-cell lymphoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","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:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null}]}}