Osteogenesis imperfecta type 1
Synonyms: Non-deforming osteogenesis imperfecta · OI type 1 · Van der Hoeve syndrome · Adair-Dighton syndrome · Mild osteogenesis imperfecta
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta, and mild long bone bowing bone deformities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteogenesis imperfecta type 1 | Non-deforming osteogenesis imperfecta · OI type 1 · Van der Hoeve syndrome · Adair-Dighton syndrome · Mild osteogenesis imperfecta |
| fr | Ostéogenèse imparfaite type 1 | OI type 1 · Ostéogenèse imparfaite légère · Ostéogenèse imparfaite sans déformation · Syndrome d'Adair-Dighton · Syndrome de Van der Hoeve |
| de | Osteogenesis imperfecta Typ 1 | Adair-Dighton-Syndrom · Milde Osteogenesis imperfecta · Nicht-deformierende Osteogenesis imperfecta · OI Typ 1 · Van der Hoeve-Syndrom |
| es | Osteogénesis imperfecta tipo 1 | OI tipo 1 · Osteogénesis imperfecta leve · Osteogénesis imperfecta no deformante · Síndrome de Adair-Dighton · Síndrome de Van der Hoeve |
| it | Osteogenesi imperfetta, tipo 1 | OI, tipo 1 · Osteogenesi imperfetta lieve · Osteogenesi imperfetta non deformante · Sindrome di Adair-Dighton · Sindrome di Van der Hoeve |
| nl | Osteogenesis imperfecta type 1 | Milde osteogenesis imperfecta · Niet-misvormende osteogenesis imperfecta · OI type 1 · Syndroom van Adair-Dighton · Syndroom van Van der Hoeve |
| pt | Osteogenesis imperfecta tipo 1 | OI tipo 1 · Osteogenesis imperfecta não-deformante · Osteogénese imperfeita ligeira · Síndrome Adair-Dighton |
| pl | Wrodzona łamliwość kości typu 1 | Łagodna postać wrodzonej łamliwości kości · Niedeformująca wrodzona łamliwość kości · OI typu 1 · Zespół Adaira i Dightona · Zespół Van der Hoeve'a |
| cs | Osteogenesis imperfecta, typ 1 | Mírná osteogenesis imperfecta · Nedeformující osteogenesis imperfecta · OI typ 1 · Adairův-Dightonův syndrom · Van der Hoeveův syndrom · Adair-Dightonův syndrom |
| uk | Недосконалий остеогенез, тип 1 | Синдром Адера-Дайтона · Помірний недосконалий остеогенез · Недосконалий недеформуючий остеогенез · OI тип 1 · Синдром Ван дер Хува |
| zh | 成骨不全症1型 | 非变形性成骨不全 |
| tr | Osteogenezis imperfekta tip 1 | OI tip 1 · Adair-Dighton sendromu · Van der Hoeve sendromu · Hafif osteogenezis imperfekta · Deforme olmayan osteogenezis imperfekta |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166200 | E | validated | |
| OMIM | 166230 | BTNT | validated | |
| ICD-10 | Q78.0 | NTBT | attributed | validated |
| ICD-11 | LD24.K0 | NTBT | index | validated |
| MONDO | 0008146 | E | validated | |
| UMLS | C0023931 | E | validated | |
| GARD | 8694 | 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 (2):
- ORPHA:666Osteogenesis imperfecta
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MBTPS2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15455 | ENSG00000012174 | 300294 | Xp22.12 | membrane bound transcription factor peptidase, site 2 | 27380894[PMID] |
| COL1A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2197 | ENSG00000108821 | 120150 | 17q21.33 | collagen type I alpha 1 chain | 21438135[PMID]_20301472[PMID] |
| COL1A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2198 | ENSG00000164692 | 120160 | 7q21.3 | collagen type I alpha 2 chain | 21438135[PMID]_20301472[PMID] |
| P4HB | Disease-causing germline mutation(s) in | Assessed | HGNC:8548 | ENSG00000185624 | 176790 | 17q25.3 | prolyl 4-hydroxylase subunit beta | 30913006[PMID]_30948499[PMID] |
| SEC24D | Disease-causing germline mutation(s) in | Assessed | HGNC:10706 | ENSG00000150961 | 607186 | 4q26 | SEC24 homolog D, COPII component | 25683121[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 5.16 / 100 000 | Sweden | Value and class | Validated | 25944380[PMID] |
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/216796
- This record as JSON: /data/d/216796.json