Osteogenesis imperfecta type 5
Synonyms: OI type 5
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteogenesis imperfecta type 5 | OI type 5 |
| fr | Ostéogenèse imparfaite type 5 | = en |
| de | Osteogenesis imperfecta Typ 5 | OI Typ 5 |
| es | Osteogénesis imperfecta tipo 5 | OI tipo 5 |
| it | Osteogenesi imperfetta, tipo 5 | OI, tipo 5 |
| nl | Osteogenesis imperfecta type 5 | = en |
| pt | Osteogenesis imperfecta tipo 5 | OI tipo 5 · Osteogenesis imperfeita tipo 5 |
| pl | Wrodzona łamliwość kości typu 5 | OI typu 5 |
| cs | Osteogenesis imperfecta, typ 5 | OI typ 5 |
| uk | Недосконалий остеогенез, тип 5 | Тип ОІ 5 |
| zh | 成骨不全症5型 | 5型OI |
| tr | Osteogenezis imperfekta tip 5 | OI tip 5 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610967 | E | validated | |
| ICD-10 | Q78.0 | NTBT | attributed | validated |
| ICD-11 | LD24.K0 | NTBT | index | validated |
| MONDO | 0012591 | E | validated | |
| MeSH | C567042 | E | validated | |
| UMLS | C2931093 | E | validated | |
| GARD | 8699 | 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:666Osteogenesis imperfecta
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IFITM5 | Disease-causing germline mutation(s) in | Assessed | HGNC:16644 | ENSG00000206013 | 614757 | 11p15.5 | interferon induced transmembrane protein 5 | 22863190[PMID]_22863195[PMID]_25046257[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 47 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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/216828
- This record as JSON: /data/d/216828.json