{"Name":"Renal cell carcinoma","DiseaseID__c":"GARD:0013215","id":13215,"encodedName":"renal-cell-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Renal cell carcinoma","Xref_IDs__c":"41607009; 702391001; C0007134; C9385; D002292; DOID:4450; HP:0005584; MEDGEN:766; MONDO:0005086; ORPHA:217071","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005086","Disease_Description__c":"A carcinoma that arises from glandular epithelial cells of the kidney","GARD_Name__c":"Renal cell carcinoma","GARD_Synonym__c":"cancer starting in small tubes in kidneys; hypernephroma; rcc; renal carcinoma; renal cell carcinoma - morphology; renal cell carcinoma (disease)","Curated_Disease_Description_Source__c":"MEDGEN:C0007134","Curated_Disease_Description__c":"Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance.Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X.For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700).See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:217071","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0005086","ORPHANET_ID__c":"ORPHA:217071","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma de células renales","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"carcinoma de células renales","Spanish_GARD_Synonym__c":"ccr","Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance.Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X.For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700).See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850).","Curated_Disease_Description_Source__c":"MEDGEN:C0007134","GARD_Synonym__c":"cancer starting in small tubes in kidneys; hypernephroma; rcc; renal carcinoma; renal cell carcinoma - morphology; renal cell carcinoma (disease)","Name":"Renal cell carcinoma","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"Kidney Cancer Association","Website__c":"https://www.kidneycancer.org/"},{"Account_Name__c":"Rare Cancers Australia","Website__c":"http://rarecancers.org.au/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"KCCure","Website__c":"https://kccure.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:217071"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002292","Source__c":"C0007134; MONDO:0005086","Xref__c":"D002292"},{"URL__c":"https://www.orpha.net/en/disease/detail/217071","Source__c":"C0007134; MONDO:0005086; ORPHA:217071","Xref__c":"ORPHA:217071"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702391001","Source__c":"C0007134; MONDO:0005086","Xref__c":"702391001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=766","Source__c":"C0007134","Xref__c":"MEDGEN:766"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0007134","Source__c":"C0007134","Xref__c":"C0007134"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4450","Source__c":"MONDO:0005086","Xref__c":"DOID:4450"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=41607009","Source__c":"C0007134","Xref__c":"41607009"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005584","Source__c":"C0007134","Xref__c":"HP:0005584"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005086","Source__c":"GARD:0013215","Xref__c":"MONDO:0005086"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9385","Source__c":"C0007134","Xref__c":"C9385"}],"tags":{"Specialist":["Cancer - Oncologist","Nephrology"],"Disease Category":["Cancer","Nephrology"],"Account":["Nephrology"]},"synonyms":["cancer starting in small tubes in kidneys"," hypernephroma"," rcc"," renal carcinoma"," renal cell carcinoma - morphology"," renal cell carcinoma (disease)"]}