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 / Biomarkers
G6663
Other Diseases
Waardenburg Syndrome Type 4 | Waardenburg Syndrome Type 4A | Wagner Disease | WAGR Syndrome | Waldenstrom Macroglobulinemia | Walker-Warburg Syndrome | Warsaw Breakage Syndrome | Weill-Marchesani Syndrome | Werner's Syndrome | Whipple's Disease | Wieacker-Wolff Syndrome | Wiedemann-Steiner Syndrome | Williams Syndrome | Wilson's Disease | Wiskott-Aldrich Syndrome | Withdrawal Syndrome | Wolcott-Rallison Syndrome | Wolff-Parkinson-White Syndrome | Wolfram Syndrome | Wolfram Syndrome 2 | Wolman Disease | Woodhouse-Sakati Syndrome | X-linked Acrogigantism | X-linked Charcot-Marie-Tooth Disease | X-linked Creatine Transporter Deficiency | X-linked Myotubular Myopathy | X-linked Sideroblastic Anemia | Xeroderma Pigmentosum | Xeroderma Pigmentosum Variant Type | Yellow Fever | Zellweger Syndrome | Zimmermann-Laband Syndrome | Zollinger-Ellison Syndrome | Zygomycosis
