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Osteogenesis imperfecta type 4
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Osteosclerosis - developmental delay - craniosynostosis
1 associated gene
17 signs/symptoms
Osteogenesis imperfecta type 4
Osteosclerosis - developmental delay - craniosynostosis

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
Osteosclerosis - developmental delay - craniosynostosis
LRP5



Osteogenesis imperfecta type 4
Osteosclerosis - developmental delay - craniosynostosis

Synonym(s):
- OI type 4
Synonym(s):
(no synonyms)
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
1 MeSH reference: C536045
External references:
No OMIM references
No MeSH references
Osteosclerosis - developmental delay - craniosynostosis

Very frequent
- Autosomal dominant inheritance
- Brachycephaly / flat occiput
- Broad forehead
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlargment of jaw / large jaw
- High forehead
- Hypertelorism
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Osteosclerosis / osteopetrosis / bone condensation

Frequent
- Craniostenosis / craniosynostosis / sutural synostosis

Occasional
- Cranial hypertension
- Facial pain / cephalalgia / migraine
- Facial palsy
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Visual loss / blindness / amblyopia


Osteogenesis imperfecta type 4

(no data available)