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Osteogenesis imperfecta type 2
4 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
1 OMIM reference -
1 associated gene
No signs/symptoms info
Osteogenesis imperfecta type 2
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

COL1A1
(UniProt - OMIM)
 MAGT1
(UniProt - OMIM)
COL1A2
(UniProt - OMIM)
CRTAP
(UniProt - OMIM)
LEPRE1
(UniProt - OMIM)
PPIB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PPIB
(0.49)
MAGT1


Citations in the biomedical literature:


Osteogenesis imperfecta type 2
COL1A1 COL1A2 CRTAP LEPRE1 PPIB
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
MAGT1



Osteogenesis imperfecta type 2
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

Synonym(s):
- Lethal osteogenesis imperfecta
- OI type 2
Synonym(s):
- CID due to MAGT1 deficiency
- Combined immunodeficiency due to MAGT1 deficiency
- XMEN
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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:
(no data available)
External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.