{"orpha":31112,"name":"Dermatofibrosarcoma protuberans","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DFSP"],"definition":"Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-31112/","orphanet_url":"https://www.orpha.net/en/disease/detail/31112","names":{"fr":{"name":"Dermatofibrosarcome de Darier-Ferrand","synonyms":["DFSP"],"definition":"Le dermatofibrosarcome de Darier-Ferrand (DFS) est un sarcome infiltrant rare du tissu mou, généralement de bas grade de malignité, prenant naissance dans le derme de la peau et associé à une translocation chromosomique spécifique t(17 ;22)."},"de":{"name":"Dermatofibrosarcoma protuberans","definition":"Das Dermatofibrosarcoma protuberans (DFSP) ist ein seltenes infiltrierendes Weichteilsarkom von meist nur niedrig-gradiger Malignität. Es entsteht in der Dermis und ist typischerweise mit einer Chromosomentranlokation t(17;22) assoziiert."},"es":{"name":"Dermatofibrosarcoma protuberante","synonyms":["DFSP"],"definition":"El dermatofibrosarcoma protuberante (DFSP) es un sarcoma raro de tejido blando infiltrante, generalmente con un grado de malignidad bajo, que sale de la dermis de la piel y que, característicamente, se asocia a una translocación cromosómica específica: la t(17;22)."},"it":{"name":"Dermatofibrosarcoma di Darier-Ferrand"},"nl":{"name":"Dermatofibrosarcoma protuberans","synonyms":["DFSP"],"definition":"Dermatofibrosarcoma protuberans (DFSP) is een zeldzaam infiltrerend wekedelensarcoom, doorgaans met laaggradige maligniteit, met een oorsprong in dermis van huid en doorgaans geassocieerd met een specifieke chromosomale translocatie t(17;22)."},"pt":{"name":"Dermatofibrossarcoma protuberante"},"pl":{"name":"Włókniakomięsak guzowaty","synonyms":["DFSP"]},"cs":{"name":"Dermatofibrosarcoma protuberans","synonyms":["DFSP"]},"uk":{"name":"Протуберанцева дерматофібросаркома","synonyms":["DFSP"],"definition":"Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22)."},"zh":{"name":"隆凸性皮肤纤维肉瘤","synonyms":["DFSP"]},"tr":{"name":"Dermatofibrosarkom protuberans","synonyms":["DFSP"]}},"xrefs":[{"source":"OMIM","code":"607907","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B53.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1579898301"},{"source":"MONDO","code":"0011934","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538219","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0392784","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9569","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057070","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":271832,"name":"Genetic soft tissue tumor","classifications":[156]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]},{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[{"symbol":"COL1A1","name":"collagen type I alpha 1 chain","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"2197","ensembl":"ENSG00000108821","omim":"120150","loci":["17q21.33"]},{"symbol":"PDGFB","name":"platelet derived growth factor subunit B","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"8800","ensembl":"ENSG00000100311","omim":"190040","loci":["22q13.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"[EXPERT]_European Medicines Agency[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-01-15","source":"30020677[PMID]_30008876[PMID]","terms":[{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100244","label":"Fibrosarcoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}