{"orpha":352540,"name":"Oncogenic osteomalacia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Oncogenic hypophosphatemic osteomalacia","TIO","Tumor-induced osteomalacia"],"definition":"A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352540/","orphanet_url":"https://www.orpha.net/en/disease/detail/352540","names":{"fr":{"name":"Ostéomalacie oncogénique","synonyms":["Ostéomalacie hypophosphatémique oncogénique"],"definition":"Syndrome paranéoplasique rare caractérisé par une perte rénale de phosphates et une déminéralisation osseuse, dû à une tumeur mésenchymateuse du tissu conjonctif qui est responsable de l'hyperphosphaturie. Chez l'adulte, il cause une ostéomalacie avec des douleurs osseuses et des fractures pathologiques, et chez l'enfant un rachitisme."},"de":{"name":"Osteomalazie, onkogene","synonyms":["Osteomalazie, hypophosphatämische onkogene","Osteomalazie, tumorinduzierte","TIO"],"definition":"Ein seltenes paraneoplastisches Syndrom, das durch renalen Phosphatverlust und Knochendemineralisation aufgrund eines gemischt bindegewebigen phosphaturischen mesenchymalen Tumors gekennzeichnet ist. Das Syndrom verursacht Osteomalazie mit Knochenschmerzen und pathologischen Frakturen bei Erwachsenen und Rachitis bei Kindern."},"es":{"name":"Osteomalacia oncogénica","synonyms":["Osteomalacia inducida por tumor","Osteomalacia oncogénica hipofosfatémica","TIO"],"definition":"Es un síndrome paraneoplásico poco frecuente caracterizado por pérdida renal de fosfato y desmineralización ósea debidas a un tumor mesenquimal fosfatúrico de tipo tejido conectivo mixto. El síndrome causa osteomalacia, con dolor óseo y fracturas patológicas en adultos y raquitismo en niños."},"it":{"name":"Osteomalacia oncogenica","synonyms":["Osteomalacia indotta da tumore","Osteomalacia ipofosfatemica oncogenica","TIO"],"definition":"L'osteomalacia oncogenica è una malattia paraneoplastica rara caratterizzata dalla perdita attraverso il rene di fosfati e dalla demineralizzazione ossea, a causa di un tumore mesenchimale fosfaturico del tessuto connettivo misto. Negli adulti produce una osteomalacia associata a dolore osseo e fratture patologiche; nei bambini si manifesta con rachitismo."},"nl":{"name":"Oncogene osteomalacie","synonyms":["Oncogene hypofosfatemische osteomalacie","TIO","Tumorgeïnduceerde osteomalacia"],"definition":"Een zeldzaam paraneoplastisch syndroom dat gekarakteriseerd wordt door renaal fosfaatverlies en botdemineralisatie als gevolg van een fosfaturische mesenchymale tumor of de gemengde variant met bindweefsel. Bij volwassenen veroorzaakt het osteomalacie met botpijn en pathologische fracturen, en bij kinderen rachitis."},"pt":{"name":"Osteomalacia oncogénica"},"pl":{"name":"Osteomalacja onkogeniczna","synonyms":["Osteomalacja indukowana nowotworem","Osteomalacja onkogeniczna hipofosfatemiczna","TIO"]},"cs":{"name":"Onkogenní osteomalácie","synonyms":["TIO","Osteomalacie indukovaná nádorem","Hypofosfatemická osteomalacie při onkologickém onemocnění"]},"uk":{"name":"Онкогенна остеомаляція","synonyms":["Онкогенна гіпофосфатемічна остеомаляція","ТІО","Остеомаляція, спричинена пухлиною"],"definition":"A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children."},"zh":{"name":"致癌性骨软化症","synonyms":["瘤源性低磷性骨软化症"],"definition":"一种罕见的副肿瘤综合征，其特征是混合结缔组织变体的磷尿间充质瘤导致肾磷消耗和骨脱矿。它会导致成人骨软化症，伴有骨痛和病理性骨折，儿童则会出现佝偻病。"},"tr":{"name":"Onkojenik osteomalazi","synonyms":["TIO","Tümör-ilişkili osteomalazi","Onkojenik hipofosfatemik osteomalazi"]}},"xrefs":[{"source":"ICD-10","code":"M83.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB80.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018124","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537751","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1274103","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9652","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93419,"name":"Rare bone disease","classifications":[199]},{"orpha":68415,"name":"Rare parathyroid disease and phosphocalcic metabolism anomaly","classifications":[193]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":400.0,"area":"Worldwide","status":"Validated","source":"23220596[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Europe","status":"Validated","source":"33818653[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-23","source":"28123260[PMID]_31301876[PMID]_33328210[PMID]_30775554[PMID]_37935612[PMID]_36327295[PMID]","terms":[{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000117","label":"Renal phosphate wasting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:6000489","label":"Abnormal circulating fibroblast growth factor 23 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012052","label":"Low serum calcitriol","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010622","label":"Neoplasm of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001850","label":"Abnormality of the tarsal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010734","label":"Fibrous dysplasia of the bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011847","label":"Giant cell tumor of bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004912","label":"Hypophosphatemic rickets","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012288","label":"Neoplasm of head and neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002669","label":"Osteosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030731","label":"Carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}