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.

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  • Created by Frank Nicholas on 17 Mar 2011