OMIA:000725 : Niemann-Pick disease, type C1

Categories: Lysosomal storage disease , Nervous system phene

Possible human homologues (MIM numbers): 257220 (trait) , 607623 (gene)

Links to MONDO diseases:

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)
taurine 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
  • Changed by Imke Tammen2 on 22 Sep 2021
  • Changed by Imke Tammen2 on 25 Jan 2023
  • Changed by Imke Tammen2 on 04 Apr 2024