Waardenburg Syndrome Type 2E

About the Disease
Waardenburg Syndrome, Type 2e, also known as waardenburg syndrome type 2, is related to albinism, ocular, with late-onset sensorineural deafness and waardenburg syndrome, type 2d. An important gene associated with Waardenburg Syndrome, Type 2e is SOX10 (SRY-Box Transcription Factor 10), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Development EPO-induced Jak-STAT pathway. Affiliated tissues include skin, eye and kidney, and related phenotypes are premature graying of hair and sensorineural hearing impairment

Common Targets
SOX10

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