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.
Reference
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