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Late-onset junctional epidermolysis bullosa
1 associated gene
16 connected diseases
2 signs/symptoms
Disease Type of connection
Generalized junctional epidermolysis bullosa, non-Herlitz type
Localized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa - pyloric atresia
Epidermolysis bullosa simplex with pyloric atresia
Autosomal dominant macrothrombocytopenia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Idiopathic pulmonary fibrosis
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Giant cell glioblastoma
Gliosarcoma
Synonym(s):
- EB progressive
- JEB-lo
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
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
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
COL17A1 Q9UMD9113811
Very frequent
- Autosomal recessive inheritance
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment