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Osteogenesis imperfecta type 4
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Centripetalis recessive dystrophic epidermolysis bullosa
1 associated gene
3 signs/symptoms
Osteogenesis imperfecta type 4
Centripetalis recessive dystrophic epidermolysis bullosa

COL1A1
(UniProt - OMIM)
 COL7A1
(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)
COL1A1
(0.75)
COL7A1


Citations in the biomedical literature:


Osteogenesis imperfecta type 4
COL1A1 COL1A2 CRTAP PPIB SP7 TMEM38B
WNT1
Centripetalis recessive dystrophic epidermolysis bullosa
COL7A1



Osteogenesis imperfecta type 4
Centripetalis recessive dystrophic epidermolysis bullosa

Synonym(s):
- OI type 4
Synonym(s):
- Centripetal dystrophic epidermolysis bullosa
- Centripetal recessive dystrophic epidermolysis bullosa
- RDEB, centripetalis
- RDEB-Ce
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin 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 recessive
External references:
6 OMIM references -
1 MeSH reference: C536045
External references:
No OMIM references
No MeSH references
Centripetalis recessive dystrophic epidermolysis bullosa

Very frequent
- Autosomal recessive inheritance
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Follicular / erythematous / edematous papules / milium



Osteogenesis imperfecta type 4

(no data available)