Niemann-Pick disease, sometimes called Classical Niemann-Pick Disease, DAF syndrome, lipoid histiocytosis (classical phosphatide), Neuronal Cholesterol Lipidosis, NPD, Ophthalmoplegia, Supraoptic Vertical, Sphingomyelinase deficiency, Sphingomyelin/cholesterol lipidosis, or Sphingomyelin lipidosis, is an inherited condition that leads to abnormal lipid metabolism that causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Types A, B, and C of Niemann-Pick disease exist, characterized by the genetic cause and signs and symptoms and depending on the type of Niemann-Pick disease contracted and the onset varies from infancy to adulthood. Mutations in the NPC1, NPC2, and SMPD1 genes cause Niemann-Pick disease and this condition is inherited in an autosomal recessive pattern. The incidence of Niemann-Pick disease type A and B is 1 in 250,000 and type C is 1 in 150,000 in all populations other than eastern and central Europeans, where it is 1 in 40,000. Approximately 85% of Niemann-Pick disease type A cases result in fatality by the age of 18 months, while most cases of types B and C result in patients living into teens or adulthood. There is no cure for Niemann-Pick disease but only measures such as lower cholesterol levels, some experimental drugs, and the treatment of symptoms.
Niemann-pick Diseases Bioinformatics Tool
Laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on co-citations. Explore more on Niemann-pick Diseases below!
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We have 2182 products for the study of Niemann-pick Diseases that can be applied to Flow Cytometry, Western Blot, Chromatin Immunoprecipitation, Immunocytochemistry/Immunofluorescence, Immunohistochemistry from our catalog of antibodies and ELISA kits.