{"orpha":488265,"name":"Osteofibrous dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OFD"],"definition":"Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488265/","orphanet_url":"https://www.orpha.net/en/disease/detail/488265","names":{"fr":{"name":"Dysplasie ostéofibreuse","definition":"Une dysplasie génétique osseuse primaire rare caractérisée par la présence d'une tumeur bénigne, ostéolytique, ostéofibreuse située habituellement au niveau du tibia (parfois au niveau de la fibula ou des deux) et impliquant généralement le cortex diaphysaire antérieur avec une expansion adjacente corticale. Elle peut parfois être asymptomatique ou se présenter par une masse palpable, une douleur, une sensibilité et/ou une courbure antérieure du tibia."},"de":{"name":"Osteofibröse Dysplasie","synonyms":["OFD"]},"es":{"name":"Displasia osteofibrosa","definition":"Es una displasia ósea primaria, genética y poco frecuente, caracterizada por la presencia de un tumor osteolítico fibro-óseo benigno localizado típicamente en la tibia (y, ocasionalmente, en el peroné, o en ambos) y que, por lo general, afecta a la corteza diafisaria anterior con expansión cortical adyacente. En ocasiones, puede ser asintomático o presentar una masa palpable, dolor, sensibilidad y/o arqueamiento anterior de la tibia."},"it":{"name":"Displasia osteofibrosa","definition":"La displasia osteofibrosa è una displasia scheletrica primitiva rara, di origine genetica, caratterizzata dalla presenza di un tumore osteolitico benigno osseo-fibroso, di solito localizzato nella tibia (raramente nel perone o in entrambi), che in genere interessa la corteccia anteriore della diafisi ed infiltra la corteccia adiacente. Occasionalmente può essere asintomatica, oppure esordire come massa palpabile, con dolore, ipersensibilità e/o incurvatura anteriore della tibia."},"nl":{"name":"Osteofibreuze dysplasie","synonyms":["OFD"],"definition":"Osteofibreuze dysplasie is een zeldzame, genetische primaire botdysplasie, en wordt gekarakteriseerd door de aanwezigheid van een goedaardige, fibro-osseuze, osteolytische tumor die doorgaans is gesitueerd in het scheenbeen (soms in het kuitbeen, or in beide) en meestal de anterieure diafysaire cortex aantast met aangrenzende corticale expansie. Het kan soms asymptomatisch of zich voordoen met een tastbare massa, pijn, gevoeligheid en/of anterieure buiging van het scheenbeen."},"pt":{"name":"Displasia osteofibrótica"},"pl":{"name":"Dysplazja kostno-włóknista","synonyms":["Dysplazja włóknista kości"],"definition":"*Dysplazja włóknista kości jest rzadką, genetycznie uwarunkowaną, pierwotną dysplazją kości, która charakteryzuje się obecnością łagodnego, włóknisto-kostnego, osteolitycznego guza, typowo zlokalizowanego w kości piszczelowej (czasami w kości strzałkowej lub w obu tych kościach) i zwykle obejmującego przednią część kory trzonu z rozprzestrzenianiem się na przylegającą korę. Czasami może przebiegać bezobjawowo lub może przyjmować postać palpacyjnie wyczuwalnej masy z towarzyszącym bólem, tkliwością i/lub łukowatym wybrzuszeniem piszczeli."},"cs":{"name":"Osteofibrózní dysplázie","synonyms":["OFD"]},"uk":{"name":"Остеофіброзна дисплазія","synonyms":["OFD"],"definition":"Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia."},"zh":{"name":"骨纤维异样增殖症","synonyms":["OFD"],"definition":"骨纤维发育不良是一种罕见的遗传性原发性骨发育不良，其特征是存在良性、纤维-骨性、溶骨性肿瘤，通常位于胫骨（偶见腓骨，或两者都有），通常累及前骨干皮质，并伴有周围皮质扩张。偶尔可能无症状，或出现可触及的肿块、疼痛、触痛和（或）胫骨前弓。"},"tr":{"name":"Osteofibröz displazi","synonyms":["OFD"]}},"xrefs":[{"source":"OMIM","code":"607278","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D16.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0011806","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563276","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1709353","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10887","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MET","name":"MET proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26637977[PMID]_8276381[PMID]_9234973[PMID]","hgnc":"7029","ensembl":"ENSG00000105976","omim":"164860","loci":["7q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[],"phenotypes":null}