OMIA:001688 : Auditory-pigmentary syndrome, PAX3-related

Categories: Pigmentation phene , Hearing / vestibular / ear phene

Possible human homologues (MIM numbers): 193500 (trait) , 148820 (trait) , 606597 (gene)

Cross-species summary: The name of this phene was changed from "Coat colour, white spotting, PAX3-related" to "Auditory-pigmentary syndrome, PAX3-related" on 01-Mar-2024.
The phene includes altered pigmentation of the eyes and/or skin together with a predisposition for unilateral or bilateral sensineural deafness. Affected animals often have blue eyes or eyes with different colors (heterochromia iridis). Skin pigmentation may include variable degrees of white spotting ranging from tiny white spots up to completely white animals. The absence of pigment is caused by the absence of melanocytes ("leucism"), not by a failure in the biochemical reactions required for pigment synthesis. The increased risk for deafness is the consequence of lacking melanocytes in the stria vascularis of the inner ear.

Species in which this phene is found:
domestic cat (Felis catus)
horse (Equus caballus)

Edit History


  • Created by Frank Nicholas on 19 Apr 2012
  • Changed by Frank Nicholas on 19 Apr 2012
  • Changed by Tosso Leeb on 02 Nov 2016
  • Changed by Tosso Leeb on 03 Nov 2016
  • Changed by Frank Nicholas on 04 Nov 2016
  • Changed by Frank Nicholas on 05 Mar 2017
  • Changed by Imke Tammen2 on 22 Sep 2021
  • Changed by Tosso Leeb on 01 Mar 2024