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Osteogenesis imperfecta type 4
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant osteosclerosis, Worth type
1 OMIM reference -
1 associated gene
14 signs/symptoms
Osteogenesis imperfecta type 4
Autosomal dominant osteosclerosis, Worth type

COL1A1
(UniProt - OMIM)
 LRP5
(UniProt - OMIM)
COL1A2
(UniProt - OMIM)
CRTAP
(UniProt - OMIM)
PPIB
(UniProt - OMIM)
SP7
(UniProt - OMIM)
TMEM38B
(UniProt - OMIM)
WNT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
WNT1
(0.52)
LRP5


Citations in the biomedical literature:


Osteogenesis imperfecta type 4
COL1A1 COL1A2 CRTAP PPIB SP7 TMEM38B
WNT1
Autosomal dominant osteosclerosis, Worth type
LRP5



Osteogenesis imperfecta type 4
Autosomal dominant osteosclerosis, Worth type

Synonym(s):
- OI type 4
Synonym(s):
- Endosteal hyperostosis, Worth type
- Worth syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
1 MeSH reference: C536045
External references:
1 OMIM reference -
No MeSH references
Autosomal dominant osteosclerosis, Worth type

Very frequent
- Anomalies of the ribs
- Autosomal dominant inheritance
- Clavicle absent / abnormal
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlarged diaphysis / diaphyses
- Osteosclerosis / osteopetrosis / bone condensation
- Palate exostoses / torus palatinus

Frequent
- Abnormal vertebral size / shape
- Enlargment of jaw / large jaw

Occasional
- Facial palsy
- Nystagmus
- Prognathism / prognathia
- Sensorineural deafness / hearing loss


Osteogenesis imperfecta type 4

(no data available)