{"Name":"Hereditary papillary renal cell carcinoma","DiseaseID__c":"GARD:0013157","id":13157,"encodedName":"hereditary-papillary-renal-cell-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Hereditary papillary renal cell carcinoma","Xref_IDs__c":"715561008; C0879257; C9222; DOID:6163; MEDGEN:163907; MONDO:0003789; OMIM:605074; ORPHA:47044","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0003789","Disease_Description__c":"A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.","GARD_Name__c":"Hereditary papillary renal cell carcinoma","GARD_Synonym__c":"familial renal papillary carcinoma; hereditary kidney papillary carcinoma; hereditary papillary carcinoma of kidney; hereditary papillary carcinoma of the kidney; hereditary papillary renal carcinoma; hereditary papillary renal cell cancer; hprcc; renal cell carcinoma, papillary; renal cell carcinoma, papillary, 1, familial and somatic","Curated_Disease_Description_Source__c":"ORPHA:47044","Curated_Disease_Description__c":"Hereditary papillary renal cell carcinoma (HPRCC) is a familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal type 1 papillary renal carcinomas.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:47044","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0003789","ORPHANET_ID__c":"ORPHA:47044","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma papilar renal hereditario","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"carcinoma papilar renal hereditario","Spanish_GARD_Synonym__c":"hprcc","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 (HPRCC) is a familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal type 1 papillary renal carcinomas.","Curated_Disease_Description_Source__c":"ORPHA:47044","GARD_Synonym__c":"familial renal papillary carcinoma; hereditary kidney papillary carcinoma; hereditary papillary carcinoma of kidney; hereditary papillary carcinoma of the kidney; hereditary papillary renal carcinoma; hereditary papillary renal cell cancer; hprcc; renal cell carcinoma, papillary; renal cell carcinoma, papillary, 1, familial and somatic","Name":"Hereditary papillary renal cell carcinoma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Kidney Cancer Association","Website__c":"https://www.kidneycancer.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":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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:47044"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715561008","Source__c":"C0879257; MONDO:0003789","Xref__c":"715561008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9222","Source__c":"C0879257; MONDO:0003789","Xref__c":"C9222"},{"URL__c":"https://www.omim.org/entry/605074","Source__c":"MONDO:0003789; ORPHA:47044","Xref__c":"OMIM:605074"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0879257","Source__c":"C0879257","Xref__c":"C0879257"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=163907","Source__c":"C0879257","Xref__c":"MEDGEN:163907"},{"URL__c":"https://www.orpha.net/en/disease/detail/47044","Source__c":"C0879257; MONDO:0003789; ORPHA:47044","Xref__c":"ORPHA:47044"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A6163","Source__c":"MONDO:0003789","Xref__c":"DOID:6163"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0003789","Source__c":"GARD:0013157","Xref__c":"MONDO:0003789"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRCC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MET","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:605074","Feature__r":{"HPO_Description__c":"The presence of renal cell carcinoma in the renal papilla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006766","HPO_Name__c":"Papillary renal cell carcinoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Nephrology"],"Disease Category":["Cancer","Genetics","Nephrology"],"Cause":["Genetics"],"Account":["Nephrology"]},"synonyms":["familial renal papillary carcinoma"," hereditary kidney papillary carcinoma"," hereditary papillary carcinoma of kidney"," hereditary papillary carcinoma of the kidney"," hereditary papillary renal carcinoma"," hereditary papillary renal cell cancer"," hprcc"," renal cell carcinoma, papillary"," renal cell carcinoma, papillary, 1, familial and somatic"]}