OMIA:000725-9615 : Niemann-Pick disease, type C1 in Canis lupus familiaris (dog)

In other species: domestic cat , taurine cattle

Categories: Lysosomal storage disease , Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 257220 (trait) , 607623 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: unknown

Considered a defect: yes

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.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2011). OMIA:000725-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


1993 Kuwamura, M., Awakura, T., Shimada, A., Umemura, T., Kagota, K., Kawamura, N., Naiki, M. :
Type C Niemann-Pick disease in a boxer dog. Acta Neuropathol 85:345-8, 1993. Pubmed reference: 8460536.

Edit History

  • Created by Frank Nicholas on 17 Mar 2011