{"Name":"Synovial sarcoma","DiseaseID__c":"GARD:0007721","id":7721,"encodedName":"synovial-sarcoma","IsDeleted":false,"Disease_Name_Full__c":"Synovial sarcoma","Xref_IDs__c":"302851001; 63211008; C0039101; C3400; D013584; DOID:5485; HP:0012570; MEDGEN:21050; MONDO:0010434; OMIM:300813; ORPHA:3273","USA_Estimate__c":null,"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":null,"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":1,"Description_Source__c":"MONDO:0010434","Disease_Description__c":"Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).","GARD_Name__c":"Synovial sarcoma","GARD_Synonym__c":"malignant synovioma; sarcoma, synovial, malignant; synovial sarcoma (disease); synovialosarcoma; synovioma; synovioma, malignant","Curated_Disease_Description_Source__c":"GARD:0007721","Curated_Disease_Description__c":"Synovial sarcoma is a rare and aggressive soft tissue sarcoma. However, as the tumor grows larger, affected people may notice a lump or swelling. In some cases, the tumor can limit range of motion or cause numbness and/or pain if it presses on nearby nerves. Although Synovial sarcoma does not have a clearly defined cause, genetic factors are believed to influence the development of this disease. Cells in these tumors are usually characterized by the presence of a translocation involving chromosomes X and 18. This translocation is specific to Synovial sarcoma and is often used to diagnose the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:3273","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010434","ORPHANET_ID__c":"ORPHA:3273","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sarcoma sinovial","Spanish_Description_Source__c":"ORPHA:3273","Spanish_Description__c":"El sarcoma sinovial es un sarcoma agresivo de partes blandas que se presenta con mayor frecuencia en adolescentes y adultos jóvenes (de 15 a 40 años), generalmente localizado cerca de las articulaciones grandes de las extremidades, así como en la cabeza y el cuello, el mediastino y las vísceras (pulmón, riñón, etc.). Clínicamente se manifiesta como un edema profundo o una masa dolorosa, a menudo con un curso inicial indolente caracterizada por su invasividad local y una propensión a metastatizar. El sarcoma sinovial se origina probablemente en células mesenquimatosas multipotentes y no sinoviales (al contrario que lo que su nombre indica).","Spanish_Disease_Name__c":"sarcoma sinovial","Spanish_GARD_Synonym__c":null,"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":"Synovial sarcoma is a rare and aggressive soft tissue sarcoma. However, as the tumor grows larger, affected people may notice a lump or swelling. In some cases, the tumor can limit range of motion or cause numbness and/or pain if it presses on nearby nerves. Although Synovial sarcoma does not have a clearly defined cause, genetic factors are believed to influence the development of this disease. Cells in these tumors are usually characterized by the presence of a translocation involving chromosomes X and 18. This translocation is specific to Synovial sarcoma and is often used to diagnose the condition.","Curated_Disease_Description_Source__c":"GARD:0007721","GARD_Synonym__c":"malignant synovioma; sarcoma, synovial, malignant; synovial sarcoma (disease); synovialosarcoma; synovioma; synovioma, malignant","Name":"Synovial sarcoma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"},{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"Ben's Friends","Website__c":"https://www.bensfriends.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Sarcoma Foundation of America","Website__c":"https://www.curesarcoma.org/"},{"Account_Name__c":"The Live For Others Foundation","Website__c":"https://l4of.org/"},{"Account_Name__c":"Sarcoma Alliance for Research through Collaboration","Website__c":"https://sarctrials.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:3273"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0039101"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007721","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=21050","Source__c":"C0039101","Xref__c":"MEDGEN:21050"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0039101","Source__c":"C0039101","Xref__c":"C0039101"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C013584","Source__c":"C0039101; MONDO:0010434","Xref__c":"D013584"},{"URL__c":"https://www.omim.org/entry/300813","Source__c":"C0039101; MONDO:0010434; ORPHA:3273","Xref__c":"OMIM:300813"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5485","Source__c":"MONDO:0010434","Xref__c":"DOID:5485"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=302851001","Source__c":"C0039101; MONDO:0010434","Xref__c":"302851001"},{"URL__c":"https://www.orpha.net/en/disease/detail/3273","Source__c":"C0039101; MONDO:0010434; ORPHA:3273","Xref__c":"ORPHA:3273"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3400","Source__c":"C0039101; MONDO:0010434","Xref__c":"C3400"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010434","Source__c":"GARD:0007721","Xref__c":"MONDO:0010434"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=63211008","Source__c":"C0039101","Xref__c":"63211008"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012570","Source__c":"C0039101","Xref__c":"HP:0012570"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SSX1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300813","Feature__r":{"HPO_Description__c":"A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012570","HPO_Synonym__c":"Malignant synovioma","HPO_Name__c":"Synovial sarcoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Pediatrics"],"Disease Category":["Cancer"]},"synonyms":["malignant synovioma"," sarcoma, synovial, malignant"," synovial sarcoma (disease)"," synovialosarcoma"," synovioma"," synovioma, malignant"]}