Oncogenic osteomalacia
Synonyms: Oncogenic hypophosphatemic osteomalacia · TIO · Tumor-induced osteomalacia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oncogenic osteomalacia | Oncogenic hypophosphatemic osteomalacia · TIO · Tumor-induced osteomalacia |
| fr | Ostéomalacie oncogénique | Ostéomalacie hypophosphatémique oncogénique |
| de | Osteomalazie, onkogene | Osteomalazie, hypophosphatämische onkogene · Osteomalazie, tumorinduzierte · TIO |
| es | Osteomalacia oncogénica | Osteomalacia inducida por tumor · Osteomalacia oncogénica hipofosfatémica · TIO |
| it | Osteomalacia oncogenica | Osteomalacia indotta da tumore · Osteomalacia ipofosfatemica oncogenica · TIO |
| nl | Oncogene osteomalacie | Oncogene hypofosfatemische osteomalacie · TIO · Tumorgeïnduceerde osteomalacia |
| pt | Osteomalacia oncogénica | |
| pl | Osteomalacja onkogeniczna | Osteomalacja indukowana nowotworem · Osteomalacja onkogeniczna hipofosfatemiczna · TIO |
| cs | Onkogenní osteomalácie | TIO · Osteomalacie indukovaná nádorem · Hypofosfatemická osteomalacie při onkologickém onemocnění |
| uk | Онкогенна остеомаляція | Онкогенна гіпофосфатемічна остеомаляція · ТІО · Остеомаляція, спричинена пухлиною |
| zh | 致癌性骨软化症 | 瘤源性低磷性骨软化症 |
| tr | Onkojenik osteomalazi | TIO · Tümör-ilişkili osteomalazi · Onkojenik hipofosfatemik osteomalazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M83.8 | NTBT | attributed | validated |
| ICD-11 | FB80.Y | NTBT | attributed | validated |
| MONDO | 0018124 | E | validated | |
| MeSH | C537751 | E | validated | |
| UMLS | C1274103 | E | validated | |
| GARD | 9652 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:93419Rare bone disease
rare bone diseases - ORPHA:68415Rare parathyroid disease and phosphocalcic metabolism anomaly
rare endocrine diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 400 cases | Worldwide | Case(s) | Validated | 23220596[PMID] | |
| Point prevalence | 1-9 / 1 000 000 | 0.7 / 100 000 | Europe | Value and class | Validated | 33818653[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
35 annotations · validated 2024-09-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0003109 | Hyperphosphaturia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0001324 | Muscle weakness | |
| HP:0002756 | Pathologic fracture | |
| HP:0000117 | Renal phosphate wasting | |
| Frequent (79-30%) | ||
| HP:6000489 | Abnormal circulating fibroblast growth factor 23 concentration | |
| HP:0002653 | Bone pain | |
| HP:0006487 | Bowing of the long bones | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0012052 | Low serum calcitriol | |
| HP:0010622 | Neoplasm of the skeletal system | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0002749 | Osteomalacia | |
| HP:0003701 | Proximal muscle weakness | |
| Occasional (29-5%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0040163 | Abnormal pelvis bone morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0001850 | Abnormality of the tarsal bones | |
| HP:0010734 | Fibrous dysplasia of the bones | |
| HP:0001288 | Gait disturbance | |
| HP:0011847 | Giant cell tumor of bone | |
| HP:0001510 | Growth delay | |
| HP:0002901 | Hypocalcemia | |
| HP:0004912 | Hypophosphatemic rickets | |
| HP:0002808 | Kyphosis | |
| HP:0012288 | Neoplasm of head and neck | |
| HP:0000787 | Nephrolithiasis | |
| HP:0002669 | Osteosarcoma | |
| HP:0000768 | Pectus carinatum | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002982 | Tibial bowing | |
| Very rare (<4-1%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0030731 | Carcinoma | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 28123260[PMID]_31301876[PMID]_33328210[PMID]_30775554[PMID]_37935612[PMID]_36327295[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352540
- This record as JSON: /data/d/352540.json