{"Name":"Alveolar soft part sarcoma","DiseaseID__c":"GARD:0005654","id":5654,"encodedName":"alveolar-soft-part-sarcoma","IsDeleted":false,"Disease_Name_Full__c":"Alveolar soft part sarcoma","Xref_IDs__c":"404056007; 423022927; 88195001; C0206657; C3750; C7943; D018234; DOID:4239; HP:0012218; MEDGEN:61652; MONDO:0011655; OMIM:606243; ORPHA:163699","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011655","Disease_Description__c":"An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.","GARD_Name__c":"Alveolar soft part sarcoma","GARD_Synonym__c":"adult alveolar soft part sarcoma; adult alveolar soft-part sarcoma; alveolar soft part sarcoma (disease); alveolar soft tissue sarcoma; alveolar soft-part sarcoma; asps","Curated_Disease_Description_Source__c":"GARD:0005654","Curated_Disease_Description__c":"Alveolar soft tissue sarcoma is a rare, slow-growing soft tissue sarcoma. Although it has been described in a variety of locations, it most commonly develops on the lower extremities in adults and in the head and neck region of children. Alveolar soft tissue sarcoma generally presents as a soft, pain-less lump that is often not associated with any additional signs and symptoms. In many cases, the condition is not diagnosed until the affected person develops symptoms of metastasis to other sites such as the lungs, bones, central nervous system and/or liver. The underlying cause of Alveolar soft tissue sarcoma is poorly understood. Most cases occur sporadically in people with no family history of 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:163699","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011655","ORPHANET_ID__c":"ORPHA:163699","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sarcoma alveolar de tejidos blandos","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"sarcoma alveolar de tejidos blandos","Spanish_GARD_Synonym__c":"sarcoma alveolar de partes blandas","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":"Alveolar soft tissue sarcoma is a rare, slow-growing soft tissue sarcoma. Although it has been described in a variety of locations, it most commonly develops on the lower extremities in adults and in the head and neck region of children. Alveolar soft tissue sarcoma generally presents as a soft, pain-less lump that is often not associated with any additional signs and symptoms. In many cases, the condition is not diagnosed until the affected person develops symptoms of metastasis to other sites such as the lungs, bones, central nervous system and/or liver. The underlying cause of Alveolar soft tissue sarcoma is poorly understood. Most cases occur sporadically in people with no family history of the condition.","Curated_Disease_Description_Source__c":"GARD:0005654","GARD_Synonym__c":"adult alveolar soft part sarcoma; adult alveolar soft-part sarcoma; alveolar soft part sarcoma (disease); alveolar soft tissue sarcoma; alveolar soft-part sarcoma; asps","Name":"Alveolar soft part sarcoma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Rare Cancer Alliance","Website__c":"https://www.rare-cancer.org/"},{"Account_Name__c":"Sarcoma Foundation of America","Website__c":"https://www.curesarcoma.org/"},{"Account_Name__c":"Sarcoma Alliance","Website__c":"https://sarcomaalliance.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:163699"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0206657"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005654","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3750","Source__c":"C0206657; MONDO:0011655","Xref__c":"C3750"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=61652","Source__c":"C0206657","Xref__c":"MEDGEN:61652"},{"URL__c":"https://www.orpha.net/en/disease/detail/163699","Source__c":"C0206657; MONDO:0011655; ORPHA:163699","Xref__c":"ORPHA:163699"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=404056007","Source__c":"C0206657; MONDO:0011655","Xref__c":"404056007"},{"URL__c":"https://www.omim.org/entry/606243","Source__c":"C0206657; MONDO:0011655; ORPHA:163699","Xref__c":"OMIM:606243"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018234","Source__c":"C0206657; MONDO:0011655","Xref__c":"D018234"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7943","Source__c":"MONDO:0011655","Xref__c":"C7943"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4239","Source__c":"MONDO:0011655","Xref__c":"DOID:4239"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0206657","Source__c":"C0206657","Xref__c":"C0206657"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012218","Source__c":"C0206657","Xref__c":"HP:0012218"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011655","Source__c":"GARD:0005654","Xref__c":"MONDO:0011655"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=88195001","Source__c":"C0206657","Xref__c":"88195001"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022927","Xref__c":"423022927"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ASPSCR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:606243","Feature__r":{"HPO_Description__c":"A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012218","HPO_Name__c":"Alveolar soft part sarcoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Pediatrics"],"Disease Category":["Cancer"]},"synonyms":["adult alveolar soft part sarcoma"," adult alveolar soft-part sarcoma"," alveolar soft part sarcoma (disease)"," alveolar soft tissue sarcoma"," alveolar soft-part sarcoma"," asps"]}