{"Name":"Clear cell sarcoma of kidney","DiseaseID__c":"GARD:0021905","id":21905,"encodedName":"clear-cell-sarcoma-of-kidney","IsDeleted":false,"Disease_Name_Full__c":"Clear cell sarcoma of kidney","Xref_IDs__c":"1187464007; 24007003; C0334488; C4264; DOID:4880; MEDGEN:90791; MONDO:0005006; ORPHA:457246","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0005006","Disease_Description__c":"A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue.","GARD_Name__c":"Clear cell sarcoma of kidney","GARD_Synonym__c":"ccsk; ccsk - clear cell sarcoma of kidney; childhood clear cell sarcoma of the kidney; childhood kidney clear cell sarcoma; childhood renal clear cell sarcoma; clear cell sarcoma - kidney; clear cell sarcoma of the kidney; kidney clear cell sarcoma; paediatric kidney clear cell sarcoma; paediatric renal clear cell sarcoma; pediatric kidney clear cell sarcoma; pediatric renal clear cell sarcoma; renal clear cell sarcoma","Curated_Disease_Description_Source__c":"ORPHA:457246","Curated_Disease_Description__c":"Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:457246","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0005006","ORPHANET_ID__c":"ORPHA:457246","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sarcoma de células claras del riñón","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"sarcoma de células claras del riñón","Spanish_GARD_Synonym__c":"sccr","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":"Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.","Curated_Disease_Description_Source__c":"ORPHA:457246","GARD_Synonym__c":"ccsk; ccsk - clear cell sarcoma of kidney; childhood clear cell sarcoma of the kidney; childhood kidney clear cell sarcoma; childhood renal clear cell sarcoma; clear cell sarcoma - kidney; clear cell sarcoma of the kidney; kidney clear cell sarcoma; paediatric kidney clear cell sarcoma; paediatric renal clear cell sarcoma; pediatric kidney clear cell sarcoma; pediatric renal clear cell sarcoma; renal clear cell sarcoma","Name":"Clear cell sarcoma of kidney","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:457246"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:457246"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:457246"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:457246"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/457246","Source__c":"C0334488; MONDO:0005006; ORPHA:457246","Xref__c":"ORPHA:457246"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4264","Source__c":"C0334488; MONDO:0005006","Xref__c":"C4264"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90791","Source__c":"C0334488","Xref__c":"MEDGEN:90791"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0334488","Source__c":"C0334488","Xref__c":"C0334488"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4880","Source__c":"MONDO:0005006","Xref__c":"DOID:4880"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005006","Source__c":"GARD:0021905","Xref__c":"MONDO:0005006"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187464007","Source__c":"C0334488","Xref__c":"1187464007"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=24007003","Source__c":"C0334488","Xref__c":"24007003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BCOR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bcor","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Nephrology","Pediatrics"],"Disease Category":["Cancer","Genetics","Nephrology"],"Cause":["Genetics"],"Account":["Nephrology"]},"synonyms":["ccsk"," ccsk - clear cell sarcoma of kidney"," childhood clear cell sarcoma of the kidney"," childhood kidney clear cell sarcoma"," childhood renal clear cell sarcoma"," clear cell sarcoma - kidney"," clear cell sarcoma of the kidney"," kidney clear cell sarcoma"," paediatric kidney clear cell sarcoma"," paediatric renal clear cell sarcoma"," pediatric kidney clear cell sarcoma"," pediatric renal clear cell sarcoma"," renal clear cell sarcoma"]}