{"Name":"Papillary renal cell carcinoma","DiseaseID__c":"GARD:0009572","id":9572,"encodedName":"papillary-renal-cell-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Papillary renal cell carcinoma","Xref_IDs__c":"733607005; 733608000; C1306837; C6975; DOID:4465; HP:0006766; MEDGEN:266300; MONDO:0017884; ORPHA:319298","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017884","Disease_Description__c":"Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.","GARD_Name__c":"Papillary renal cell carcinoma","GARD_Synonym__c":"chromophil carcinoma of kidney; chromophil carcinoma of the kidney; chromophil renal cell carcinoma; hprcc; papillary (chromophil) renal cell carcinoma; papillary kidney carcinoma; papillary renal carcinoma, malignant - (subtype); papillary renal cell adenocarcinoma; papillary renal cell cancer; papillary renal cell carcinoma, bilateral - (subtype); papillary renal cell carcinoma, familial - (subtype); papillary renal cell carcinoma, multiple - (subtype); papillary renal cell carcinoma, sporadic - (subtype); rccp; renal cell carcinoma, papillary, type 1; sporadic papillary renal cell carcinoma","Curated_Disease_Description_Source__c":"GARD:0009572","Curated_Disease_Description__c":"\"Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney. The term \"\"papillary\"\" describes the finger-like projections that can be found in most of the tumors. PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive. Though the exact cause of Papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer) may contribute to the development of this type of cancer.\"","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:319298","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017884","ORPHANET_ID__c":"ORPHA:319298","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma papilar de células renales","Spanish_Description_Source__c":"ORPHA:319298","Spanish_Description__c":"El carcinoma papilar de células renales es un subtipo poco frecuente de carcinoma de células renales procedente del epitelio tubular renal que muestra un patrón de crecimiento papilar y que, por lo general, se manifiesta con hematuria, dolor en el costado, masa abdominal palpable o síntomas inespecíficos, tales como fatiga, pérdida de peso o fiebre. Los síntomas relacionados con la diseminación metastásica, tales como dolor de huesos o tos persistente, se asocian frecuentemente, puesto que el diagnóstico temprano no es común. Es típicamente multifocal, bilateral y en la mayoría de los casos esporádico, aunque diferentes síndromes hereditarios, tales como la leiomiomatosis hereditaria y carcinoma de células renales, el síndrome de Birt-Hogg-Dubé y la esclerosis tuberosa, pueden predisponer al desarrollo del carcinoma papilar de células renales.","Spanish_Disease_Name__c":"carcinoma papilar de células renales","Spanish_GARD_Synonym__c":"adenocarcinoma papilar renal","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":"\"Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney. The term \"\"papillary\"\" describes the finger-like projections that can be found in most of the tumors. PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive. Though the exact cause of Papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer) may contribute to the development of this type of cancer.\"","Curated_Disease_Description_Source__c":"GARD:0009572","GARD_Synonym__c":"chromophil carcinoma of kidney; chromophil carcinoma of the kidney; chromophil renal cell carcinoma; hprcc; papillary (chromophil) renal cell carcinoma; papillary kidney carcinoma; papillary renal carcinoma, malignant - (subtype); papillary renal cell adenocarcinoma; papillary renal cell cancer; papillary renal cell carcinoma, bilateral - (subtype); papillary renal cell carcinoma, familial - (subtype); papillary renal cell carcinoma, multiple - (subtype); papillary renal cell carcinoma, sporadic - (subtype); rccp; renal cell carcinoma, papillary, type 1; sporadic papillary renal cell carcinoma","Name":"Papillary renal cell carcinoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Kidney Cancer Association","Website__c":"https://www.kidneycancer.org/"},{"Account_Name__c":"Action to Cure Kidney Cancer","Website__c":"https://www.ackc.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":"Elderly","Provided_By__c":"ORPHA:319298"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:319298"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1306837"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009572","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1306837","Source__c":"C1306837","Xref__c":"C1306837"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4465","Source__c":"MONDO:0017884","Xref__c":"DOID:4465"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6975","Source__c":"C1306837; MONDO:0017884","Xref__c":"C6975"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=266300","Source__c":"C1306837","Xref__c":"MEDGEN:266300"},{"URL__c":"https://www.orpha.net/en/disease/detail/319298","Source__c":"C1306837; MONDO:0017884; ORPHA:319298","Xref__c":"ORPHA:319298"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733608000","Source__c":"C1306837; MONDO:0017884","Xref__c":"733608000"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006766","Source__c":"C1306837","Xref__c":"HP:0006766"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017884","Source__c":"GARD:0009572","Xref__c":"MONDO:0017884"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733607005","Source__c":"C1306837","Xref__c":"733607005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MET","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Specialist":["Cancer - Oncologist","Nephrology"],"Disease Category":["Cancer","Nephrology"],"Account":["Nephrology"]},"synonyms":["chromophil carcinoma of kidney"," chromophil carcinoma of the kidney"," chromophil renal cell carcinoma"," hprcc"," papillary (chromophil) renal cell carcinoma"," papillary kidney carcinoma"," papillary renal carcinoma, malignant - (subtype)"," papillary renal cell adenocarcinoma"," papillary renal cell cancer"," papillary renal cell carcinoma, bilateral - (subtype)"," papillary renal cell carcinoma, familial - (subtype)"," papillary renal cell carcinoma, multiple - (subtype)"," papillary renal cell carcinoma, sporadic - (subtype)"," rccp"," renal cell carcinoma, papillary, type 1"," sporadic papillary renal cell carcinoma"]}