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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 associated genes
No signs/symptoms info
Glanzmann thrombasthenia
High bone mass osteogenesis imperfecta

ITGA2B COL1A1
ITGB3 COL1A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ITGB3
ITGA2B
(0.55)
(0.52)
COL1A2
COL1A2



Citations in the biomedical literature:


Glanzmann thrombasthenia
ITGA2B ITGB3
High bone mass osteogenesis imperfecta
COL1A1 COL1A2



Glanzmann thrombasthenia
High bone mass osteogenesis imperfecta

Synonym(s):
(no synonyms)

Synonym(s):
- High bone mass OI

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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 recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.