{"orpha":50251,"name":"Pleural mesothelioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, aggressive respiratory tumor arising from mesothelial cells of the pleura characterized by chest pain, dyspnea, cough and fatigue. It is strongly associated with asbestos exposure and typically develops after a long latency period (20-40 years). It usually presents as a diffuse invasive tumor but may also occur as a localized mass or as pleural mesothelioma in situ, a preinvasive lesion confined to the pleural surface.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50251/","orphanet_url":"https://www.orpha.net/en/disease/detail/50251","names":{"fr":{"name":"Mésothéliome pleural","definition":"Tumeur respiratoire rare et agressive prenant naissance dans les cellules mésothéliales de la plèvre, se caractérisant par des douleurs thoraciques, une dyspnée, une toux et une fatigue. Étroitement liée à l'exposition à l'amiante, la maladie se développe généralement après une longue période de latence (comprise entre 20 et 40 ans). Elle se présente généralement sous la forme d'une tumeur invasive diffuse, mais peut également se manifester sous la forme d'une masse localisée ou d'un mésothéliome pleural in situ, une lésion pré-invasive confinée à la surface pleurale."},"de":{"name":"Mesotheliom","definition":"Das maligne Mesotheliom ist ein fatales, asbest-assoziiertes Malignom das in der Deckzellschicht (Mesothel) der Pleura- und Peritonealhöhle, sowie im Perikard und der Tunica vaginalis entsteht."},"es":{"name":"Mesotelioma pleural","definition":"El mesotelioma maligno es una enfermedad mortal, ligada a la exposición al amianto, que afecta a las células mesoteliales que recubren la pleura, el peritoneo, el pericardio y la túnica vaginal."},"it":{"name":"Mesotelioma pleurico"},"nl":{"name":"Pleuraal mesothelioom","definition":"Maligne mesothelioom is een fatale maligniteit geassocieerd met asbest, die ontstaat in cellen die pleuraholte en peritoneale holte bekleden (mesothelium), alsook in pericard en tunica vaginalis."},"pt":{"name":"Mesotelioma"},"pl":{"name":"Międzybłoniak opłucnej"},"cs":{"name":"Pleurální mezoteliom"},"uk":{"name":"Мезотеліома плеври","definition":"Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis."},"zh":{"name":"胸膜间皮瘤"},"tr":{"name":"Plevral mezotelyoma"}},"xrefs":[{"source":"OMIM","code":"156240","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C45.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2C26.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"369414280"},{"source":"MONDO","code":"0006292","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008654","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1377913","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7026","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10035603","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":101945,"name":"Rare bronchopulmonary and pleural cavity tumors","classifications":[184,202]}],"children":[{"orpha":675837,"name":"Diffused pleural mesothelioma","type":"Clinical subtype"},{"orpha":675833,"name":"Localized pleural mesothelioma","type":"Clinical subtype"},{"orpha":675841,"name":"Pleural mesothelioma in situ","type":"Clinical subtype"}],"genes":[{"symbol":"BAP1","name":"BRCA1 associated deubiquitinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27181379[PMID]","hgnc":"950","ensembl":"ENSG00000163930","omim":"603089","loci":["3p21.1"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.1,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Europe","status":"Not yet validated","source":"22406029[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"France","status":"Validated","source":"19569174[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.0003,"area":"Worldwide","status":"Validated","source":"International Agency for Research on Cancer[OTHER]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-04","source":"29179896[PMID]","terms":[{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025142","label":"Constitutional symptom","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011025","label":"Abnormality of cardiovascular system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007011","label":"Fourth cranial nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031041","label":"Obstruction of the superior vena cava","frequency":"Occasional (29-5%)","criteria":null}]}}