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4 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Osteogenesis imperfecta type 2
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

COL1A1 WWOX
COL1A2
CRTAP
LEPRE1
PPIB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LEPRE1
PPIB
(0.63)
(0.63)
WWOX
WWOX



Citations in the biomedical literature:


Osteogenesis imperfecta type 2
COL1A1 COL1A2 CRTAP LEPRE1 PPIB
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
WWOX



Osteogenesis imperfecta type 2
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit

Synonym(s):
- Lethal osteogenesis imperfecta
- OI type 2

Synonym(s):
- Autosomal recessive spinocerebellar ataxia-12
- SCAR12

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
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 recessive

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.