Niemann-Pick disease, NPC1-related, domestic cat
A lysosomal storage disease characterised by impaired unesterified cholesterol and sphingomyelin transport and metabolism, resulting in the accumulation of un-esterified cholesterol and glycosphingolipids within late endosomes and lysosomes that occurs in cats due to a mutation in the NPC1 gene. Affected animals present with hepatosplenomegaly, neurological degeneration and premature death.
MONDO:1010861
lysosomal storage disease, domestic cat
is_a
Niemann-Pick disease, type C1, domestic cat
related