Categories: Lysosomal storage disease , Nervous system phene

Possible human homologues (MIM numbers): 257220 (trait) , 607623 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0009757: Niemann-Pick disease, type C1

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.

Species in which this phene is found:
dog (Canis lupus familiaris)
domestic cat (Felis catus)
taurine cattle (Bos taurus)