ORPHA:216812
Osteogenesis imperfecta type 3
Synonyms: OI type 3 · Progressive deforming osteogenesis imperfecta · Severe osteogenesis imperfecta
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteogenesis imperfecta type 3 | OI type 3 · Progressive deforming osteogenesis imperfecta · Severe osteogenesis imperfecta |
| fr | Ostéogenèse imparfaite type 3 | OI type 3 · Ostéogenèse imparfaite progressive déformante · Ostéogenèse imparfaite sévère |
| de | Osteogenesis imperfecta Typ 3 | OI Typ 3 · Progressive deformierende Osteogenesis imperfecta · Schwere Osteogenesis imperfecta |
| es | Osteogénesis imperfecta tipo 3 | OI tipo 3 · Osteogénesis imperfecta deformante progresiva · Osteogénesis imperfecta grave |
| it | Osteogenesi imperfetta tipo 3 | OI tipo 3 · Osteogenesi imperfetta deformante progressiva · Osteogenesi imperfetta grave |
| nl | Osteogenesis imperfecta type 3 | Ernstige osteogenesis imperfecta · OI type 3 · Progressief deformerende osteogenesis imperfecta |
| pt | Osteogenesis imperfecta tipo 3 | OI tipo 3 · Osteogenesis imperfeita tipo 3 · Osteogénese imperfeita deformante progressiva · Osteogénese imperfeita grave |
| pl | Wrodzona łamliwość kości typu 3 | Ciężka postać wrodzonej łamliwości kości · OI typu 3 · Postępująca deformująca wrodzona łamliwość kości |
| cs | Osteogenesis imperfecta, typ 3 | OI typ 3 · Progresivní deformující osteogenesis imperfecta · Težká osteogenesis imperfecta · Těžká osteogenesis imperfecta |
| uk | Недосконалий остеогенез, тип 3 | Тип ОІ 3 · Прогресуючий деформуючий недосконалий остеогенез · Важка форма недосконалого остеогенезу |
| zh | 成骨不全症3型 | 进行性变形性成骨不全 |
| tr | Osteogenezis imperfekta tip 3 | OI tip 3 · Ağır osteogenezis imperfekta · İlerleyici deforme edici osteogenezis imperfekta |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259420 | E | validated | |
| OMIM | 259440 | BTNT | validated | |
| OMIM | 610682 | BTNT | validated | |
| OMIM | 610915 | BTNT | validated | |
| OMIM | 610968 | BTNT | validated | |
| OMIM | 613848 | BTNT | validated | |
| OMIM | 613982 | BTNT | validated | |
| OMIM | 614856 | BTNT | validated | |
| OMIM | 615220 | BTNT | validated | |
| OMIM | 616229 | BTNT | validated | |
| OMIM | 617952 | BTNT | validated | |
| ICD-10 | Q78.0 | NTBT | attributed | validated |
| ICD-11 | LD24.K0 | NTBT | index | validated |
| MONDO | 0009804 | E | validated | |
| MeSH | C536044 | E | validated | |
| UMLS | C0268362 | E | validated | |
| GARD | 8695 | 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 (3):
- ORPHA:666Osteogenesis imperfecta
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:167762Rare disease with dentinogenesis imperfecta
rare genetic diseases; rare odontological diseases - ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
13 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TENT5A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18345 | ENSG00000112773 | 611357 | 6q14.1 | terminal nucleotidyltransferase 5A | 29358272[PMID] |
| WNT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12774 | ENSG00000125084 | 164820 | 12q13.12 | Wnt family member 1 | 23499310[PMID]_25046257[PMID] |
| BMP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1067 | ENSG00000168487 | 112264 | 8p21.3 | bone morphogenetic protein 1 | 22052668[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] |
| CREB3L1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18856 | ENSG00000157613 | 616215 | 11p11.2 | cAMP responsive element binding protein 3 like 1 | 24079343[PMID] |
| CRTAP | Disease-causing germline mutation(s) in | Assessed | HGNC:2379 | ENSG00000170275 | 605497 | 3p22.3 | cartilage associated protein | 21438135[PMID] |
| FKBP10 | Disease-causing germline mutation(s) in | Assessed | HGNC:18169 | ENSG00000141756 | 607063 | 17q21.2 | FKBP prolyl isomerase 10 | 21438135[PMID]_25046257[PMID] |
| MBTPS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15455 | ENSG00000012174 | 300294 | Xp22.12 | membrane bound transcription factor peptidase, site 2 | 27380894[PMID] |
| P3H1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19316 | ENSG00000117385 | 610339 | 1p34.2 | prolyl 3-hydroxylase 1 | 21438135[PMID] |
| PPIB | Disease-causing germline mutation(s) in | Assessed | HGNC:9255 | ENSG00000166794 | 123841 | 15q22.31 | peptidylprolyl isomerase B | 21438135[PMID] |
| SERPINF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8824 | ENSG00000132386 | 172860 | 17p13.3 | serpin family F member 1 | 21353196[PMID]_25046257[PMID] |
| SERPINH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1546 | ENSG00000149257 | 600943 | 11q13.5 | serpin family H member 1 | 21438135[PMID] |
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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 / 1 000 000 | 0.89 / 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.
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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/216812
- This record as JSON: /data/d/216812.json