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Localized junctional epidermolysis bullosa, non-Herlitz type
1 OMIM reference -
2 associated genes
40 connected diseases
No signs/symptoms info
Disease Type of connection
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa - pyloric atresia
Epidermolysis bullosa simplex with pyloric atresia
Late-onset junctional epidermolysis bullosa
Giant cell glioblastoma
Gliosarcoma
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Autosomal dominant macrothrombocytopenia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Idiopathic pulmonary fibrosis
Keratosis palmoplantaris striata
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Spinocerebellar ataxia type 1
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Pulverulent cataract
Naxos disease
Synonym(s):
- JEB-nH loc
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: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL17A1 Q9UMD9113811
ITGB4 P16144147557
No signs/symptoms info available.