Disease

Generalized Epidermolysis Bullosa Simplex

About the Disease
Epidermolysis Bullosa Simplex Generalized Type, also known as epidermolysis bullosa simplex, koebner type, is related to epidermolysis bullosa simplex 1b, generalized intermediate and epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive. An important gene associated with Epidermolysis Bullosa Simplex Generalized Type is KRT14 (Keratin 14), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotype is integument.

Common Targets
KRT5 | LAMB3 | KRT14

疾病靶点研报
Generalized Epidermolysis Bullosa Simplex

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