DISEASES

Disease-gene associations mined from literature

Human genes for epidermolysis bullosa simplex

Epidermolysis bullosa simplex [DOID:4644]

An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.

Synonyms:  epidermolysis bullosa simplex,  DOID:4644,  epidermolysis bullosa simplexes

Linkouts:  OMIM #1 #2 #3 #4 #5 #6