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.