DISEASES

Disease-gene associations mined from literature

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 ...