{"orpha":47044,"name":"Hereditary papillary renal cell carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HPRC"],"definition":"A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-47044/","orphanet_url":"https://www.orpha.net/en/disease/detail/47044","names":{"fr":{"name":"Carcinome papillaire rénal héréditaire","synonyms":["HPRC"],"definition":"Syndrome familial rare de cancer rénal caractérisé par une prédisposition à développer des carcinomes papillaires rénaux bilatéraux et multifocaux de type classique (anciennement connu sous le nom de carcinome papillaire rénal de type 1 avant l'entrée en vigueur de la classification OMS 2022 des cancers du rein)."},"de":{"name":"Hereditäres papilläres Nierenzellkarzinom","synonyms":["HPRCC","Nierenzellkarzinom, papilläres, familiäres"],"definition":"Ein seltenes familiäres Nierenkrebssyndrom, das durch eine Veranlagung zur Entwicklung bilateraler und multifokaler papillärer Nierenzellkarzinome vom klassischen Typ gekennzeichnet ist (bis zur WHO-Klassifikation der Nierentumoren 2022 als papilläres Nierenzellkarzinom vom Typ 1 bezeichnet)."},"es":{"name":"Carcinoma papilar renal hereditario","synonyms":["HPRCC"],"definition":"Es un síndrome de carcinoma renal familiar poco frecuente caracterizado por una predisposición a desarrollar carcinomas papilares de células renales de tipo clásico bilaterales y multifocales (anteriormente conocidos como carcinoma papilar de células renales tipo 1 hasta la clasificación de tumores renales de la OMS de 2022)."},"it":{"name":"Carcinoma papillare ereditario delle cellule renali","synonyms":["HPRC"]},"nl":{"name":"Hereditair papillair niercelcarcinoom","synonyms":["Erfelijk papillair niercelcarcinoom","HPRC"],"definition":"Een zeldzaam familiaal nierkankersyndroom, gekenmerkt door predispositie voor ontwikkeling van bilaterale en multifocale papillaire niercelcarcinomen van het klassieke type (voorheen gekend als type 1 papillair niercelcarcinoom, tot de WHO-classificatie van niertumoren van 2022)."},"pt":{"name":"Carcinoma renal papilar hereditário","synonyms":["HPRC"],"definition":"Síndrome rara de cancro renal familiar caracterizada por uma predisposição para o desenvolvimento de carcinomas renais papilares clássicos bilaterais e multifocais (anteriormente conhecidos como carcinomas renais papilares tipo 1 até à classificação de tumores renais da OMS de 2022)."},"pl":{"name":"Dziedziczny rak brodawkowaty nerki","synonyms":["HPRCC"]},"cs":{"name":"Dědičný papilární renální karcinom","synonyms":["HPRCC"]},"uk":{"name":"Спадкова папілярна нирковоклітинна карцинома","synonyms":["HPRC"],"definition":"A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors)."},"zh":{"name":"遗传性乳头状肾细胞癌","synonyms":["HPRCC"]},"tr":{"name":"Kalıtsal papiller renal hücreli karsinom","synonyms":["HPRCC"]}},"xrefs":[{"source":"OMIM","code":"605074","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"134659728"},{"source":"MONDO","code":"0003789","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538614","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0879257","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067943","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":151,"name":"OBSOLETE: Familial renal cell carcinoma","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]}],"children":[],"genes":[{"symbol":"MET","name":"MET proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7029","ensembl":"ENSG00000105976","omim":"164860","loci":["7q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[],"phenotypes":null}