OMIA:000725-9615 : Niemann-Pick disease, type C1 in Canis lupus familiaris (dog) |
In other species: domestic cat , taurine cattle
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 257220 (trait) , 607623 (gene)
Links to MONDO diseases:
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.
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2011). OMIA:000725-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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