{"orpha":293822,"name":"MITF-related melanoma and renal cell carcinoma predisposition syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293822/","orphanet_url":"https://www.orpha.net/en/disease/detail/293822","names":{"fr":{"name":"Syndrome de prédisposition au carcinome rénal et mélanome associé à MITF","definition":"Syndrome familial avec prédisposition aux cancers dû à une mutation germinale de gain de fonction du gène <i>MITF</i>, associé à une incidence plus élevée de mélanomes amélanotiques et nodulaires, de mélanomes primaires multiples et à une augmentation du nombre et de la taille des naevus. Elle peut également prédisposer à la cooccurrence d'un mélanome et d'un carcinome à cellules rénales, ainsi qu'au cancer du pancréas."},"de":{"name":"MITF-assoziiertes Melanom und Nierenzellkarzinom-Prädispositionssyndrom"},"es":{"name":"Síndrome de predisposición al carcinoma de células renales y melanoma asociado a MITF","definition":"Es un síndrome de predisposición hereditaria al cáncer debido a una mutación en la línea germinal, de ganancia de función en el gen <i>MITF</i>. Se asocia a una mayor incidencia de melanoma amelanótico y nodular, melanoma primario múltiple y aumento del número y tamaño de los nevus. También puede predisponer a la coexistencia de melanoma, carcinoma de células renales y al cáncer de páncreas."},"it":{"name":"Sindrome da predisposizione al carcinoma delle cellule renali e al melanoma associata a MITF","definition":"La sindrome da predisposizione al carcinoma delle cellule renali e al melanoma associata a MITF è una malattia ereditaria di suscettibilità ai tumori, causata da una mutazione con guadagno di funzione nella linea germinale del gene MITF, associata ad una maggiore incidenza del melanoma amelanotico e nodulare, dei melanomi primitivi multipli e ad un aumento del numero e delle dimensioni dei nevi. Può anche predisporre contemporaneamente al melanoma e al carcinoma delle cellule renali e al tumore del pancreas."},"nl":{"name":"MITF-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom","definition":"MITF-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom is een erfelijk kankerpredispositiesyndroom als gevolg van een kiembaanmutatie met functiewinst in het MITF-gen, geassocieerd met een hogere incidentie van amelanotisch en nodulair melanoom, multipele primaire melanomen en een toename in aantal en omvang van naevi. Het kan ook vatbaar maken voor samen voorkomen van melanoom en niercelcarcinoom en voor pancreaskanker."},"pt":{"name":"Síndrome de predisposição para carcinoma de células renais e melanoma MITF-relacionado"},"pl":{"name":"Zespół predyspozycji do czerniaka i raka nerkowokomórkowego zwiazany z MITF"},"cs":{"name":"Syndrom predispozice k MITF-vázanému melanomu a k světlobuněčnému karcinomu ledviny"},"uk":{"name":"Синдром схильності до меланоми та нирковоклітинної карциноми, повязаний з MITF","definition":"MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer."},"zh":{"name":"MITF基因相关黑色素瘤和肾细胞癌易感综合征","definition":"MITF相关黑色素瘤与肾细胞癌倾向综合征是一种遗传性癌症易感综合征，由MITF基因功能获得性生殖细胞系突变所致，与无色素性和结节性黑色素瘤发生率高、多发原发性黑色素瘤及痣的数量和大小增加有关。它还可能易患黑色素瘤、肾细胞癌及胰腺癌。"},"tr":{"name":"MITF-ilişkili melanom ve renal hücreli karsinom yatkınlık sendromu"}},"xrefs":[{"source":"OMIM","code":"614456","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C43.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013759","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749577","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"MITF","name":"melanocyte inducing transcription factor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22480646[PMID]_22012259[PMID]","hgnc":"7105","ensembl":"ENSG00000187098","omim":"156845","loci":["3p13"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}