Epidermolysis Bullosa Simplex 5c, with Pyloric Atresia (EBS5C)

Epidermolysis Bullosa Simplex 5c, with Pyloric Atresia, also known as epidermolysis bullosa simplex with pyloric atresia, is related to epidermolysis bullosa, junctional 5b, with pyloric atresia and epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa Simplex 5c, with Pyloric Atresia is PLEC (Plectin), and among its related pathways/superpathways is Adhesion. Affiliated tissues include skin and eye, and related phenotypes are vomiting and elevated circulating creatine kinase concentration