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Osteogenesis imperfecta type 4
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Osteoporosis - pseudoglioma
1 OMIM reference -
1 associated gene
21 signs/symptoms
Osteogenesis imperfecta type 4
Osteoporosis - pseudoglioma

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
Osteoporosis - pseudoglioma
LRP5



Osteogenesis imperfecta type 4
Osteoporosis - pseudoglioma

Synonym(s):
- OI type 4
Synonym(s):
- OPPG
- Ocular form of osteogenesis imperfecta
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 eye disease
- Rare genetic disease
- Rare neurologic 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: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
6 OMIM references -
1 MeSH reference: C536045
External references:
1 OMIM reference -
1 MeSH reference: C536063
Osteoporosis - pseudoglioma

Very frequent
- Abnormal vertebral size / shape
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Cataract / lens opacification
- Delayed bone age
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Visual loss / blindness / amblyopia

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Short stature / dwarfism / nanism

Occasional
- Depressed nasal bridge
- Generalized obesity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Kyphosis
- Low hair line (back)
- Micrognathia / retrognathia / micrognathism / retrognathism
- Optic nerve anomaly / optic atrophy / anomaly of the papilla


Osteogenesis imperfecta type 4

(no data available)