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Keyword - Niemann-Pick disease (KW-1054)

Definition

Protein which, if defective, causes Niemann-Pick disease. Niemann-Pick disease comprises an inherited group of congenital lipidoses in which sphingolipids accumulate in cells, especially in the reticuloendothelial system, due to defective lysosomal storage. The disease is clinically characterized by progressive degeneration of the central nervous system with visceral accumulation of cholesterol and sphingomyelin. The clinical phenotype is highly variable and different types are distinguished by age of onset, degree of central nervous system involvement and by the amount of sphingomyelin phosphodiesterase activity.

Synonyms

  • Niemann's disease
  • NPD

Category

Disease

Graphical

DiseaseNiemann-Pick disease