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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
8 OMIM references -
10 associated genes
No signs/symptoms info
Atelosteogenesis type I
Osteogenesis imperfecta type 3

FLNB BMP1
COL1A1
COL1A2
CREB3L1
CRTAP
LEPRE1
PPIB
SERPINF1
SERPINH1
WNT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
(0.63)
COL1A1



Citations in the biomedical literature:


Atelosteogenesis type I
FLNB
Osteogenesis imperfecta type 3
BMP1 COL1A1 COL1A2 CREB3L1 CRTAP LEPRE1
PPIB SERPINF1 SERPINH1 WNT1



Atelosteogenesis type I
Osteogenesis imperfecta type 3

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

Synonym(s):
- OI type 3
- Progressive deforming osteogenesis imperfecta
- Severe osteogenesis imperfecta

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535396
External references:
8 OMIM references -
1 MeSH reference: C536044

No signs/symptoms info available.