OMIA:000185 : Chediak-Higashi syndrome |
Categories: Haematopoietic system phene
Possible human homologues (MIM numbers): 214500 (trait) , 606897 (gene)
Links to MONDO diseases:
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