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1 associated gene
2 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Late-onset junctional epidermolysis bullosa
Skin fragility-woolly hair-palmoplantar keratoderma syndrome

COL17A1 DSP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL17A1
(0.65)
DSP



Citations in the biomedical literature:


Late-onset junctional epidermolysis bullosa
COL17A1
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
DSP



Late-onset junctional epidermolysis bullosa
Skin fragility-woolly hair-palmoplantar keratoderma syndrome

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

Synonym(s):
- Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

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

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

Late-onset junctional epidermolysis bullosa

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



Skin fragility-woolly hair-palmoplantar keratoderma syndrome

(no data available)