Waardenburg Syndrome

Alias:
Waardenburg's Syndrome
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Van Der Hoeve Halbertsona Waardenburg Syndrome
Waardenburg, Types I and/or Ii
Waardenburg Syndrome, Type 4a
Waardenburg Shah Syndrome
Waardenburgs Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Waardenburg Syndrome, also known as waardenburg's syndrome, is related to waardenburg syndrome, type 3 and waardenburg syndrome, type 4c. An important gene associated with Waardenburg Syndrome is PAX3 (Paired Box 3), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include skin and eye, and related phenotypes are hearing impairment and abnormal facial shape
Related ID:
MESH:D014849

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-9/1000000
34
1024
22

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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Phase
No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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