{"orpha":668,"name":"Osteosarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Osteogenic sarcoma"],"definition":"Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-668/","orphanet_url":"https://www.orpha.net/en/disease/detail/668","names":{"fr":{"name":"Ostéosarcome","synonyms":["Sarcome ostéogène"],"definition":"L'ostéosarcome est une tumeur primitive maligne du squelette caractérisée par la production d'os immature ou de tissu ostéoïde par les cellules tumorales."},"de":{"name":"Osteosarkom","synonyms":["Osteogenes Sarkom"],"definition":"Das Osteosarkom ist ein primär maligner Knochentumor mit direkter Bildung von unreifem Knochen- oder Osteoidgewebe durch die Tumorzellen."},"es":{"name":"Osteosarcoma","synonyms":["Sarcoma osteógeno"],"definition":"Es un tumor maligno primario óseo caracterizado por la formación directa de hueso inmaduro o tejido osteoide por las células tumorales."},"it":{"name":"Osteosarcoma","synonyms":["Sarcoma osteogenico"]},"nl":{"name":"Osteosarcoom","synonyms":["Osteogeen sarcoom"],"definition":"Osteosarcoom is een primaire maligne tumor van skelet, gekenmerkt door directe vorming van onrijp bot of osteoïd weefsel door tumorcellen."},"pt":{"name":"Osteossarcoma","synonyms":["Sarcoma osteogénico"]},"pl":{"name":"Kostniakomięsak","synonyms":["Mięsak kościopochodny"]},"cs":{"name":"Osteosarkom","synonyms":["Osteogenický sarkom"]},"uk":{"name":"Остеосаркома","synonyms":["Остеогенна саркома"],"definition":"Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells."},"zh":{"name":"骨肉瘤","synonyms":["成骨性肉瘤"]},"tr":{"name":"Osteosarkom","synonyms":["Osteojenik sarkom"]}},"xrefs":[{"source":"OMIM","code":"259500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C41.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2B51","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1210287093"},{"source":"ICD-11","code":"2B51.0","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1102292672"},{"source":"ICD-11","code":"2B51.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1664120027"},{"source":"ICD-11","code":"2B51.2","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1419990437"},{"source":"ICD-11","code":"2B51.Y","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0002629","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012516","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0029463","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7284","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10031291","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]},{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"CHEK2","name":"checkpoint kinase 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11746983[PMID]","hgnc":"16627","ensembl":"ENSG00000183765","omim":"604373","loci":["22q12.1"]},{"symbol":"RB1","name":"RB transcriptional corepressor 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"11449317[PMID]","hgnc":"9884","ensembl":"ENSG00000139687","omim":"614041","loci":["13q14.2"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"2823272[PMID]_1349175[PMID]_8401536[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"8401536[PMID]_2823272[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.23,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"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":3.17,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"United States","status":"Validated","source":"19197972[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-04","source":"21317869[PMID]","terms":[{"hpo":"HP:0006489","label":"Abnormality of the femoral metaphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045040","label":"Abnormal lactate dehydrogenase activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006491","label":"Abnormality of the tibial metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very rare (<4-1%)","criteria":null}]}}