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Osteogenesis imperfecta type 4
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Brachydactyly type B
1 OMIM reference -
1 associated gene
12 signs/symptoms
Osteogenesis imperfecta type 4
Brachydactyly type B

COL1A1
(UniProt - OMIM)
 ROR2
(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
(0.63)
ROR2


Citations in the biomedical literature:


Osteogenesis imperfecta type 4
COL1A1 COL1A2 CRTAP PPIB SP7 TMEM38B
WNT1
Brachydactyly type B
ROR2



Osteogenesis imperfecta type 4
Brachydactyly type B

Synonym(s):
- OI type 4
Synonym(s):
(no synonyms)
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 genetic 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
1 MeSH reference: C536045
External references:
1 OMIM reference -
No MeSH references
Brachydactyly type B

Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal dominant inheritance
- Distal phalangeal bones of toes hypoplasia / absence
- Metacarpal anomalies / Archibald's sign
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Terminal / third phalangeal bone of fingers hypoplasia

Occasional
- Broad / bifid big toe
- Broad / bifid thumb
- Carpal bones fusion / synostosis
- Symphalangy of fingers
- Syndactyly of fingers / interdigital palm


Osteogenesis imperfecta type 4

(no data available)