High bone mass osteogenesis imperfecta
Synonyms: High bone mass OI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | High bone mass osteogenesis imperfecta | High bone mass OI |
| fr | Ostéogenèse imparfaite avec augmentation de la masse osseuse | OI avec augmentation de la masse osseuse |
| de | Osteogenesis imperfecta Hohe Knochenmasse | OI mit hoher Knochendichte |
| es | Osteogénesis imperfecta con aumento de la masa ósea | OI con aumento de la masa ósea |
| it | Osteogenesi imperfetta con aumento della massa ossea | OI con aumento della massa ossea |
| nl | Osteogenesis imperfecta met hoge botmassa | OI met hoge botmassa |
| pt | Osteogenesis imperfecta com massa óssea elevada | OI com massa óssea elevada |
| pl | Wrodzona łamliwość kości z wysoką gęstością kości | OI z wysoką masą kostną |
| cs | Osteogenesis imperfecta s vysokou kostní denzitou | OI s vysokou kostní denzitou |
| uk | Недосконалий остеогенез з високою кістковою масою | Висока кісткова маса OI |
| zh | 高骨密度成骨不全 | 高骨密度OI病 |
| tr | Yüksek kemik yoğunluklu osteogenezis imperfekta | Yüksek kemik kütlesi OI |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q78.0 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | attributed | validated |
| MONDO | 0017791 | E | validated | |
| UMLS | C5190607 | 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 (1):
- ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1067 | ENSG00000168487 | 112264 | 8p21.3 | bone morphogenetic protein 1 | 27264419[PMID]_22482805[PMID |
| COL1A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2197 | ENSG00000108821 | 120150 | 17q21.33 | collagen type I alpha 1 chain | 21344539[PMID] |
| COL1A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2198 | ENSG00000164692 | 120160 | 7q21.3 | collagen type I alpha 2 chain | 21344539[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 21344539[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314029
- This record as JSON: /data/d/314029.json