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GENATLAS PHENOTYPE
last update : 03-12-2015
Symbol WS1
Location 2q36.1
Name Waardenburg syndrome, type 1
Corresponding gene PAX3
Main clinical features
  • wide bridge of the nose owing to lateral displacement of the inner (dystopia canthorum)
  • pigmentary disturbance with frontal white blaze of hair, heterochromia iridis, white eye lashes, leukoderma
  • cochlear deafness
  • can be accompanied by unilateral macular degeneration
  • severity varies widely and some affected persons escape deafness.
    • Genetic determination autosomal dominant
    Related entries WS2A
    Function/system disorder ear
    eye
    Type disease
    Gene product
    Name paired box (DNA binding) containing protein 3, HuP2 (PAX3, splotch homolog)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types      
    deletion     partial/whole gene deletion
    Remark(s)
    Genotype/Phenotype correlations WS1 is distinguished from WS2 by the presence in WS1 of dystopia canthorum