Disease

Ectodermal Dysplasia

About the Disease
Clouston Syndrome, also known as ectodermal dysplasia 2, clouston type, is related to ectodermal dysplasia 1, hypohidrotic, x-linked and cleft lip/palate, and has symptoms including photophobia An important gene associated with Clouston Syndrome is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways are Vesicle-mediated transport and Gap junction trafficking. The drugs Immunoglobulins, Intravenous and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and endothelial, and related phenotypes are palmoplantar keratoderma and alopecia

Common Targets
GJB2 | NECTIN4 | RIPK4 | IKBKG | TP63 | CHUK | GJB6 | WDR35 | PKP1 | WNT10A | SMARCAD1 | HOXC13 | KRT85 | TSPEAR

疾病靶点研报
Ectodermal Dysplasia

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