{"orpha":422526,"name":"Hereditary clear cell renal cell carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary clear cell renal cell adenocarcinoma"],"definition":"Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-422526/","orphanet_url":"https://www.orpha.net/en/disease/detail/422526","names":{"fr":{"name":"Carcinome rénal héréditaire à cellules claires","synonyms":["Adénocarcinome rénal héréditaire à cellules claires"],"definition":"Un syndrome de cancer rénal héréditaire défini par le développement d'un carcinome rénal à cellules claires chez deux membres ou plus d'une famille. Les analyses ne révèlent pas de translocation constitutionnelle du chromosome 3, ni la présence d'une maladie de von Hippel-Lindau ou d'un autre syndrome de prédisposition aux tumeurs associés au carcinome rénal à cellules claires, comme la sclérose tubéreuse ou le syndrome de Birt-Hogg-Dubbé."},"de":{"name":"Nierenzellkarzinom, klarzelliges, hereditäre Form","synonyms":["Hereditäres klarzelliges renales Adenokarzinom"],"definition":"Das hereditäre klarzellige Nierenzellkarzinom (ccRCC) ist ein erbliches Nierenkrebssyndrom, das definiert ist als Entwicklung eines ccRCC bei zwei oder mehr Familienmitgliedern ohne Nachweis einer konstitutionellen Chromosom-3-Translokation, der von-Hippel-Lindau-Krankheit oder anderer tumorprädisponierender Syndrome, die mit ccRCC assoziiert sind, wie z. B. tuberöse Sklerose oder Birt-Hogg-Dubbé-Syndrom."},"es":{"name":"Carcinoma renal hereditario de células claras","synonyms":["Adenocarcinoma renal hereditario de células claras"],"definition":"El carcinoma renal de células claras hereditario (ccRCC) es un síndrome de cáncer renal hereditario definido en base al desarrollo de ccRCC en dos o más miembros de una familia sin evidencia de translocación constitucional en el cromosoma 3, enfermedad de von Hippel-Lindau u otros síndromes de predisposición tumoral asociados a ccRCC, tales como esclerosis tuberosa o el síndrome de Birt-Hogg-Dubbé."},"it":{"name":"Carcinoma renale ereditario a cellule chiare","synonyms":["Adenocarcinoma renale ereditario a cellule chiare"],"definition":"Il carcinoma renale ereditario a cellule chiare (ccRCC) è un tumore renale ereditario che si sviluppa in due o più membri della stessa famiglia, in assenza di una traslocazione costituzionale del cromosoma 3, della malattia di von Hippel-Lindau o di altre malattie che predispongono ai tumori associate al ccRCC, come la sclerosi tuberosa o la sindrome di Birt-Hogg-Dubbé."},"nl":{"name":"Erfelijk heldercellig niercelcarcinoom","synonyms":["Erfelijk heldercellig nierceladenocarcinoom"],"definition":"Erfelijk heldercellig niercelcarcinoom (ccRCC) is een erfelijk nierkankersyndroom dat gedefinieerd wordt als de ontwikkeling van ccRCC in twee of meer familieleden zonder bewijs van een constitutionele translocatie van chromosoom 3, ziekte van von Hippel-Lindau of andere tumorpredispositiesyndromen geassocieerd met ccRCC, zoals tubereuze sclerose of syndroom van Birt-Hogg-Dubbé."},"pt":{"name":"Carcinoma das células renais hereditário de células claras"},"pl":{"name":"Dziedziczny rak jasnokomórkowy nerki","synonyms":["Dziedziczny gluczolakorak jasnokomórkowy nerki"]},"cs":{"name":"Hereditární světlobuněčný karcinom ledviny","synonyms":["Hereditární světlobuněčný adenokarcinom ledvin"]},"uk":{"name":"Спадковий світлоклітинний рак нирки","synonyms":["Спадкова прозороклітинна нирковоклітинна аденокарцинома"],"definition":"Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome."},"zh":{"name":"遗传性肾透明细胞癌","synonyms":["遗传性透明细胞肾细胞腺癌"],"definition":"遗传性透明细胞肾细胞癌（ccRCC）是一种遗传性肾癌综合征，定义为两个或多个家庭成员中有透明细胞肾细胞癌的发生，不合并3号染色体易位，冯·希佩尔·林道病或与ccRCC相关的其他肿瘤易感综合征比如结节性硬化症或Birt-Hogg-DubbÚ综合征。"},"tr":{"name":"Kalıtsal berrak renal hücreli karsinomu","synonyms":["Kalıtsal temiz hücreli böbrek hücreli adenokarsinom"]}},"xrefs":[{"source":"OMIM","code":"144700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018492","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1333985","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9571","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]}],"children":[],"genes":[{"symbol":"FLCN","name":"folliculin","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"12471204[PMID]","hgnc":"27310","ensembl":"ENSG00000154803","omim":"607273","loci":["17p11.2"]},{"symbol":"OGG1","name":"8-oxoguanine DNA glycosylase","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"10987279[PMID]","hgnc":"8125","ensembl":"ENSG00000114026","omim":"601982","loci":["3p25.3"]},{"symbol":"SLC49A4","name":"solute carrier family 49 member 4","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11912179[PMID]_11996788[PMID]","hgnc":"16628","ensembl":"ENSG00000138463","omim":"602773","loci":["3q21.1"]},{"symbol":"DIRC3","name":"disrupted in renal carcinoma 3","gene_type":"Non-coding RNA","association":"Part of a fusion gene in","status":"Assessed","source":"12939738[PMID]","hgnc":"17805","ensembl":"ENSG00000231672","omim":"608262","loci":["2q35"]},{"symbol":"FHIT","name":"fragile histidine triad diadenosine triphosphatase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"3701","ensembl":"ENSG00000189283","omim":"601153","loci":["3p14.2"]},{"symbol":"HSPBAP1","name":"HSPB1 associated protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"12939738[PMID]","hgnc":"16389","ensembl":"ENSG00000169087","omim":"608263","loci":["3q21.1"]},{"symbol":"RNF139","name":"ring finger protein 139","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"17023","ensembl":"ENSG00000170881","omim":"603046","loci":["8q24.13"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}