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

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


Citations in the biomedical literature:


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



Acral dystrophic epidermolysis bullosa
Osteogenesis imperfecta type 4

Synonym(s):
- DEB, acral
- DEB-ac
Synonym(s):
- OI type 4
Classification (Orphanet):
- Rare genetic disease
- Rare skin 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: -
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:
No OMIM references
No MeSH references
External references:
6 OMIM references -
1 MeSH reference: C536045
Acral dystrophic epidermolysis bullosa

Very frequent
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Follicular / erythematous / edematous papules / milium
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment



Osteogenesis imperfecta type 4

(no data available)