Niemann-Pick Disease

Classical Niemann-Pick Disease; DAF syndrome; lipoid histiocytosis (classical phosphatide); Neuronal Cholesterol Lipidosis; NP; NPD; Ophthalmoplegia, Supraoptic Vertical; Sphingomyelin lipidosis; Sphingomyelin/cholesterol lipidosis; Sphingomyelinase deficiency

Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. Autosomal recessive inheritence There are four variants of Niemann-Pick disease based on the genetic cause and the symptoms exhibited by the patient. All variants are inherited in an autosomal recessive pattern. Mutations in the NPC1, NPC2, and SMPD1 genes ...