{"orpha":319,"name":"Skeletal Ewing sarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Osseous Ewing sarcoma"],"definition":"Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319/","orphanet_url":"https://www.orpha.net/en/disease/detail/319","names":{"fr":{"name":"Sarcome d'Ewing squelettique","synonyms":["Sarcome d'Ewing osseux"],"definition":"Le sarcome d'Ewing est une tumeur osseuse à petites cellules rondes, maligne et à fort potentiel métastatique."},"de":{"name":"Ewing-Sarkom, skelettales","synonyms":["Ossäres Ewing-Sarkom"],"definition":"Das Ewing-Sarkom ist ein maligner klein- und rundzelliger Knochentumor mit starkem Metastasierungs-Potential."},"es":{"name":"Sarcoma de Ewing esquelético","synonyms":["Sarcoma de Ewing óseo"],"definition":"El sarcoma de Ewing es un tumor óseo de células pequeñas y redondas, maligno, y con un fuerte potencial metastásico."},"it":{"name":"Sarcoma di Ewing"},"nl":{"name":"Skeletaal Ewing-sarcoom","synonyms":["Ossaal Ewing-sarcoom"],"definition":"Ewing-sarcoom is een maligne klein- en rondcellige tumor van bot met groot metastatisch potentieel."},"pt":{"name":"Sarcoma de Ewing"},"pl":{"name":"Mięsak Ewinga","synonyms":["Osseous Ewing sarcoma"]},"cs":{"name":"Ewingův sarkom","synonyms":["Osseous Ewing sarcoma"]},"uk":{"name":"Скелетна саркома Юінга","synonyms":["Кісткова саркома Юінга"],"definition":"Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential."},"zh":{"name":"骨骼尤文氏肉瘤","synonyms":["骨性尤因肉瘤"]},"tr":{"name":"İskelet Ewing sarkomu","synonyms":["Osseöz Ewing sarkomu"]}},"xrefs":[{"source":"OMIM","code":"612219","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C40.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C40.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C40.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C41.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C41.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C41.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B52.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B52.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B52.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B52.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012817","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0585474","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6390","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10015560","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":223727,"name":"Bone sarcoma","classifications":[199,202]}],"children":[],"genes":[{"symbol":"ERG","name":"ETS transcription factor ERG","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"3446","ensembl":"ENSG00000157554","omim":"165080","loci":["21q22.2"]},{"symbol":"ETV1","name":"ETS variant transcription factor 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"3490","ensembl":"ENSG00000006468","omim":"600541","loci":["7p21.2"]},{"symbol":"ETV4","name":"ETS variant transcription factor 4","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"3493","ensembl":"ENSG00000175832","omim":"600711","loci":["17q21.31"]},{"symbol":"EWSR1","name":"EWS RNA binding protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"3508","ensembl":"ENSG00000182944","omim":"133450","loci":["22q12.2"]},{"symbol":"FLI1","name":"Fli-1 proto-oncogene, ETS transcription factor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"3749","ensembl":"ENSG00000151702","omim":"193067","loci":["11q24.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.33,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}