OMIA 000725-9615 : Niemann-Pick disease, type C1 in Canis lupus familiaris
In other species: domestic cat , cattle Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 257220 (trait) , 607623 (gene) 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.
|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.|
- Created by Frank Nicholas on 17 Mar 2011