{"orpha":69078,"name":"Liposarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69078/","orphanet_url":"https://www.orpha.net/en/disease/detail/69078","names":{"fr":{"name":"Liposarcome","definition":"Le liposarcome (LS), un type de sarcome des tissus mous, décrit un groupe de tumeurs lipomateuses de sévérité variable allant de tumeurs à croissance lente à des tumeurs agressives et métastatiques. Les liposarcomes sont le plus souvent situés dans les membres inférieurs ou le rétropéritoine, mais ils peuvent aussi apparaître dans les membres supérieurs, le cou, la cavité péritonéale, le cordon spermatique, la poitrine, la vulve et les aisselles."},"de":{"name":"Liposarkom","definition":"Das Liposarkom (LS), ein Typ der Weichteilsarkome, bezeichnet eine Gruppe von lipomatösen Tumoren unterschiedlichen Schweregrades, der von langsam wachsenden bis hin zu aggressiven und metastasierenden Tumoren reicht. Liposarkome befinden sich am häufigsten an den unteren Extremitäten oder im Retroperitoneum, sie können jedoch auch in an oberen Extremitäten, am Hals, in der Bauchhöhle, im Samenstrang und in Brust, Vulva und Axilla auftreten."},"es":{"name":"Liposarcoma","definition":"El liposarcoma (LS), un tipo de sarcoma de partes blandas, describe un grupo de tumores lipomatosos de gravedad variable que va desde un crecimiento lento a un crecimiento agresivo y metastásico. Los liposarcomas se localizan con más frecuencia en las extremidades inferiores o el retroperitoneo, pero también pueden producirse en: extremidades superiores, cuello, cavidad peritoneal, cordón espermático, mama, vulva y axila."},"it":{"name":"Liposarcoma","definition":"Il liposarcoma (LS), un sarcoma dei tessuti molli, definisce un gruppo di tumori lipomatosi di gravità variabile, dai tumori a progressione lenta a quelli aggressivi e metastatici. I liposarcomi interessano spesso gli arti inferiori o il retroperitoneo, ma possono insorgere anche negli arti superiori, nel collo, nella cavità peritoneale, nel funicolo spermatico, nella mammella, nella vagina e nelle ascelle."},"nl":{"name":"Liposarcoom","definition":"Liposarcoom (LS) is een type wekedelensarcoom en omvat een groep lipomateuze tumoren gaande van traag groeiende tot agressieve en metastatische tumoren. Liposarcomen situeren zich meestal in de onderste ledematen of het retroperitoneum, maar kunnen ook voorkomen in de bovenste ledematen, hals, peritoneale holte, zaadstreng, borst, vulva en oksel."},"pt":{"name":"Lipossarcoma"},"pl":{"name":"Tłuszczakomięsak"},"cs":{"name":"Liposarkom"},"uk":{"name":"Ліпосаркома","definition":"Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla."},"zh":{"name":"脂肪肉瘤"},"tr":{"name":"Liposarkom"}},"xrefs":[{"source":"OMIM","code":"613488","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2B59","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1991400753"},{"source":"ICD-11","code":"2B59.0","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1153141048"},{"source":"ICD-11","code":"2B59.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"472732541"},{"source":"ICD-11","code":"2B59.2","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"974906949"},{"source":"ICD-11","code":"2B59.Y","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0005060","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008080","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023827","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6913","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10024627","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[{"orpha":99970,"name":"Dedifferentiated liposarcoma","type":"Histopathological subtype"},{"orpha":99967,"name":"Myxoid/round cell liposarcoma","type":"Histopathological subtype"},{"orpha":99969,"name":"Pleomorphic liposarcoma","type":"Histopathological subtype"},{"orpha":99971,"name":"Well-differentiated liposarcoma","type":"Histopathological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"DDIT3","name":"DNA damage inducible transcript 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"2726","ensembl":"ENSG00000175197","omim":"126337","loci":["12q13.3"],"via":{"orpha":99967,"name":"Myxoid/round cell liposarcoma"}},{"symbol":"FUS","name":"FUS RNA binding protein","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"4010","ensembl":"ENSG00000089280","omim":"137070","loci":["16p11.2"],"via":{"orpha":99967,"name":"Myxoid/round cell liposarcoma"}},{"symbol":"CDK4","name":"cyclin dependent kinase 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"1773","ensembl":"ENSG00000135446","omim":"123829","loci":["12q14.1"],"via":{"orpha":99970,"name":"Dedifferentiated liposarcoma"}},{"symbol":"CDK4","name":"cyclin dependent kinase 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"1773","ensembl":"ENSG00000135446","omim":"123829","loci":["12q14.1"],"via":{"orpha":99971,"name":"Well-differentiated liposarcoma"}},{"symbol":"HMGA2","name":"high mobility group AT-hook 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"5009","ensembl":"ENSG00000149948","omim":"600698","loci":["12q14.3"],"via":{"orpha":99970,"name":"Dedifferentiated liposarcoma"}},{"symbol":"HMGA2","name":"high mobility group AT-hook 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"5009","ensembl":"ENSG00000149948","omim":"600698","loci":["12q14.3"],"via":{"orpha":99971,"name":"Well-differentiated liposarcoma"}},{"symbol":"MDM2","name":"MDM2 proto-oncogene","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"6973","ensembl":"ENSG00000135679","omim":"164785","loci":["12q15"],"via":{"orpha":99970,"name":"Dedifferentiated liposarcoma"}},{"symbol":"MDM2","name":"MDM2 proto-oncogene","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"6973","ensembl":"ENSG00000135679","omim":"164785","loci":["12q15"],"via":{"orpha":99971,"name":"Well-differentiated liposarcoma"}}],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"22517534[PMID]_[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.59,"area":"United States","status":"Validated","source":"17013893[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"24093169[PMID]","terms":[{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}