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1 associated gene
2 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
5 associated genes
5 signs/symptoms
Late-onset junctional epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type

COL17A1 COL17A1
ITGB4
LAMA3
LAMB3
LAMC2


COMMON
GENES
COL17A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL17A1
(0.88)
ITGB4



Citations in the biomedical literature:


Late-onset junctional epidermolysis bullosa
COL17A1
Generalized junctional epidermolysis bullosa, non-Herlitz type
ITGB4 LAMA3 LAMB3 LAMC2



Late-onset junctional epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type

Synonym(s):
- EB progressive
- JEB-lo

Synonym(s):
- GABEB
- Generalized atrophic benign epidermolysis bullosa
- JEB-nH gen
- Junctional epidermolysis bullosa generalisata mitis
- Junctional epidermolysis bullosa, Disentis type

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 odontologic 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: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Late-onset junctional epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type

Very frequent
- Autosomal recessive inheritance



Very frequent
- Nails anomalies

Frequent
- Abnormal fingernails
- Abnormal toenails

Occasional
- Anomalies of teeth and dentition