ORPHA:216820
Osteogenesis imperfecta type 4
Synonyms: OI type 4
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteogenesis imperfecta type 4 | OI type 4 |
| fr | Ostéogenèse imparfaite type 4 | = en |
| de | Osteogenesis imperfecta Typ 4 | OI Typ 4 |
| es | Osteogénesis imperfecta tipo 4 | OI tipo 4 |
| it | Osteogenesi imperfetta tipo 4 | OI tipo 4 |
| nl | Osteogenesis imperfecta type 4 | = en |
| pt | Osteogenesis imperfecta tipo 4 | OI tipo 4 · Osteogenesis imperfeita tipo 4 |
| pl | Wrodzona łamliwość kości typu 4 | OI typu 4 |
| cs | Osteogenesis imperfecta, typ 4 | OI typ 4 |
| uk | Недосконалий остеогенез, тип 4 | Тип ОІ 4 |
| zh | 成骨不全症4型 | 4型OI |
| tr | Osteogenezis imperfekta tip 4 | OI tip 4 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166220 | E | validated | |
| OMIM | 259440 | BTNT | validated | |
| OMIM | 610682 | BTNT | validated | |
| OMIM | 610968 | BTNT | validated | |
| OMIM | 613849 | BTNT | validated | |
| OMIM | 613982 | BTNT | validated | |
| OMIM | 615066 | BTNT | validated | |
| OMIM | 615220 | BTNT | validated | |
| OMIM | 616507 | BTNT | validated | |
| ICD-10 | Q78.0 | NTBT | attributed | validated |
| ICD-11 | LD24.K0 | NTBT | index | validated |
| MONDO | 0008148 | E | validated | |
| MeSH | C000631847 | E | validated | |
| UMLS | C0268363 | E | validated | |
| GARD | 8696 | 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.
4
Genes
11 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WNT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12774 | ENSG00000125084 | 164820 | 12q13.12 | Wnt family member 1 | 23434763[PMID]_25046257[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] |
| 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] |
| PPIB | Disease-causing germline mutation(s) in | Assessed | HGNC:9255 | ENSG00000166794 | 123841 | 15q22.31 | peptidylprolyl isomerase B | 21282188[PMID] |
| SERPINF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8824 | ENSG00000132386 | 172860 | 17p13.3 | serpin family F member 1 | 25046257[PMID] |
| SP7 | Disease-causing germline mutation(s) in | Assessed | HGNC:17321 | ENSG00000170374 | 606633 | 12q13.13 | Sp7 transcription factor | 21438135[PMID] |
| SPARC | Disease-causing germline mutation(s) in | Assessed | HGNC:11219 | ENSG00000113140 | 182120 | 5q33.1 | secreted protein acidic and cysteine rich | 26027498[PMID] |
| TMEM38B | Disease-causing germline mutation(s) in | Assessed | HGNC:25535 | ENSG00000095209 | 611236 | 9q31.2 | transmembrane protein 38B | 23313006[PMID]_25046257[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 / 100 000 | 1.35 / 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/216820
- This record as JSON: /data/d/216820.json