Waardenburg Syndrome

About the Disease
Waardenburg Syndrome, Type 1, also known as waardenburg syndrome type 1, is related to peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease and waardenburg syndrome, type 4a. An important gene associated with Waardenburg Syndrome, Type 1 is PAX3 (Paired Box 3), and among its related pathways/superpathways are Neural crest differentiation and Melanocyte Development and Pigmentation. Affiliated tissues include skin, eye and bone, and related phenotypes are mandibular prognathia and short nose

Common Targets
TYR | MITF | PAX3 | SMOC1 | FNBP4 | EDNRB | ADGRV1 | RET | EDN3 | SOX10 | GJB2

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