OMIA:000185 : Chediak-Higashi syndrome

Categories: Haematopoietic system phene

Possible human homologues (MIM numbers): 214500 (trait) , 606897 (gene)

Links to relevant human diseases in MONDO:

Cross-species summary: The mouse homologue of this disorder is the beige coat-colour mutation, which is a mutation in the gene for lysosomal trafficking regulator, Lyst. As its name suggests, this gene is involved in lysosomal functioning - lysosomes being the digestive system of the cell. Thus Chediak-Higashi syndrome is a lysosomal disorder.

Species in which this phene is found:
domestic cat (Felis catus)
killer whale (Orcinus orca)
taurine cattle (Bos taurus)
American mink (Neovison vison)
Arctic fox (Vulpes lagopus)

Edit History

  • Created by Frank Nicholas on 03 May 2005
  • Changed by Frank Nicholas on 15 Sep 2012
  • Changed by Frank Nicholas on 23 Apr 2013
  • Changed by Imke Tammen2 on 01 Sep 2021
  • Changed by Imke Tammen2 on 29 Oct 2022
  • Changed by Imke Tammen2 on 24 Jan 2023