Waardenburg Syndrome, Type 3 (WS3)

Alias:

Waardenburg Syndrome Type 3

Klein-Waardenburg Syndrome

Ws3

Waardenburg Syndrome with Upper Limb Anomalies

Waardenburg Syndrome Type Iii

Waardenburg Syndrome with Limb Anomalies

White Forelock with Malformations

Waardenburg Syndrome, Type Iii

Waardenburg Syndrome 3

Klein's Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Waardenburg Syndrome, Type 3, also known as waardenburg syndrome type 3, is related to waardenburg syndrome, type 4c and waardenburg syndrome, type 2c. An important gene associated with Waardenburg Syndrome, Type 3 is PAX3 (Paired Box 3), and among its related pathways/superpathways are Neural crest differentiation and Melanocyte Development and Pigmentation. Affiliated tissues include skin and eye, and related phenotypes are hearing impairment and joint stiffness

Related ID：

MALACARDS：WRD031

OMIM：148820

MESH：D014849