Waardenburg Syndrome, Type 4b (WS4B)

Alias:
Waardenburg Syndrome Type 4b
Ws4b
Waardenburg Syndrome with Hirschsprung Disease Type 4b
Waardenburg Syndrome Type Ivb
Waardenburg Syndrome, Type 4b, with Hirschsprung Disease
Hirschsprung Disease with Pigmentary Anomaly
Waardenburg Syndrome, Type Ivb
Waardenburg Syndrome, Type 4a
Waardenburg-Shah Syndrome
Shah-Waardenburg Syndrome
Waardenburg Syndrome 4b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Waardenburg Syndrome, Type 4b, also known as waardenburg syndrome type 4b, is related to sensorineural hearing loss and waardenburg syndrome, type 4a. An important gene associated with Waardenburg Syndrome, Type 4b is EDN3 (Endothelin 3), and among its related pathways/superpathways is Ion channel transport. Affiliated tissues include skin and eye, and related phenotypes are sensorineural hearing impairment and premature graying of hair
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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6
37
8

Medical Symptom

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Gene & Mutation

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Disease Model

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References Literature

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