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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
9 signs/symptoms
Junctional epidermolysis bullosa inversa
Dystrophic epidermolysis bullosa pruriginosa

LAMC2 COL7A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LAMC2
(0.76)
COL7A1



Citations in the biomedical literature:


Junctional epidermolysis bullosa inversa
LAMC2
Dystrophic epidermolysis bullosa pruriginosa
COL7A1



Junctional epidermolysis bullosa inversa
Dystrophic epidermolysis bullosa pruriginosa

Synonym(s):
- EBJ-I
- Inverse JEB
- JEB-I

Synonym(s):
- DEB, pruriginosa
- DEB-Pr
- Pruriginous dystrophic epidermolysis bullosa

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal recessive inheritance
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Junctional epidermolysis bullosa inversa
Dystrophic epidermolysis bullosa pruriginosa

Frequent
- Abnormal fingernails



Very frequent
- Autosomal dominant inheritance
- Pruritus / itching
- Thin skin

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Follicular / erythematous / edematous papules / milium
- Lichen
- Nails anomalies