ORPHA:488265
Osteofibrous dysplasia
Synonyms: OFD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteofibrous dysplasia | OFD |
| fr | Dysplasie ostéofibreuse | |
| de | Osteofibröse Dysplasie | = en |
| es | Displasia osteofibrosa | |
| it | Displasia osteofibrosa | |
| nl | Osteofibreuze dysplasie | = en |
| pt | Displasia osteofibrótica | |
| pl | Dysplazja kostno-włóknista | Dysplazja włóknista kości |
| cs | Osteofibrózní dysplázie | = en |
| uk | Остеофіброзна дисплазія | = en |
| zh | 骨纤维异样增殖症 | = en |
| tr | Osteofibröz displazi | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607278 | E | validated | |
| ICD-10 | D16.2 | NTBT | attributed | validated |
| ICD-11 | LD24.2Y | NTBT | attributed | validated |
| MONDO | 0011806 | E | validated | |
| MeSH | C563276 | E | validated | |
| UMLS | C1709353 | E | validated | |
| GARD | 10887 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MET | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:7029 | ENSG00000105976 | 164860 | 7q31.2 | MET proto-oncogene, receptor tyrosine kinase | 26637977[PMID]_8276381[PMID]_9234973[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488265
- This record as JSON: /data/d/488265.json