Waardenburg Syndrome, Type 4c (WS4C)

Alias:
Waardenburg Syndrome Type 4c
Ws4c
Waardenburg Syndrome with Hirschsprung Disease Type 4c
Waardenburg Syndrome Type Ivc
Waardenburg Syndrome with Hirschsprung Disease, Type 4c
Hirschsprung Disease with Pigmentary Anomaly
Waardenburg Syndrome, Type Ivc
Waardenburg Syndrome, Type 4a
Waardenburg-Shah Syndrome
Shah-Waardenburg Syndrome
Waardenburg Syndrome 4c
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Waardenburg Syndrome, Type 4c, also known as waardenburg syndrome type 4c, 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 4c is SOX10 (SRY-Box Transcription Factor 10), 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 anosmia and lacrimal gland hypoplasia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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13
253
10

Medical Symptom

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Description
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
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References Literature

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