Definition: An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.
Other names Nova Scotia Niemann Pick Disease (Type D); Niemann Pick's Disease Type D; Niemann Pick's Disease Type C; Niemann Pick disease, Subacute Juvenile Form; Niemann Pick Disease, Type D; Niemann Pick Disease, Type C; Niemann Pick Disease, Nova Scotian; Niemann Pick Disease, Chronic Neuronopathic Form; Niemann Pick Disease without Sphingomyelinase Defi; Niemann Pick Disease with Cholesterol Esterificati; Niemann Pick Disease Type D; Nova Scotia Niemann-Pick Disease (Type D); Nova Scotia (Type D) Form of Niemann-Pick Disease; Niemann-Pick's Disease Type D; Niemann-Pick's Disease Type C; Niemann-Pick disease, Subacute Juvenile Form; Niemann-Pick Disease, Type C1; Niemann-Pick Disease, Nova Scotian; Niemann-Pick Disease, Chronic Neuronopathic Form; Niemann-Pick Disease without Sphingomyelinase Defi
