OMIA 000725 : Niemann-Pick disease, type C1

Possible human homologue (MIM number): 257220 (trait)

Cross-species summary: Niemann-Pick type C1 (NPC1) disease is a lysosomal storage disease (LSD) characterised by impaired un-esterified cholesterol and sphingomyelin transport and metabolism, resulting in the accumulation of un-esterified cholesterol and glycosphingolipids within late endosomes and lysosomes. Affected animals present with hepatosplenomegaly, neurological degeneration and premature death.

Species in which this phene is found:
dog (Canis lupus familiaris)
domestic cat (Felis catus)
cattle (Bos taurus)

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 29 Oct 2016
  • Changed by Imke Tammen2 on 26 Sep 2020