Human genes for Niemann-Pick disease
Niemann-Pick disease [DOID:14504]
Niemann-Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann-Pick Type C strikes an estimated 1:150,000 people. Approximately 50% of cases present before 10 years of age, but manifestations may first be recognized as late as the sixth decade.
Synonyms: Niemann-Pick disease, DOID:14504, NiemannPick disease, Niemann-Pick disorder, Niemann-Pick syndrome ...