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 the NPC1 gene, which encodes a protein that mediates 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.

Synonyms: Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia, Niemann-Pick Disease Type C, Niemann-Pick Disease with Cholesterol Esterification Block, Niemann Pick Disease with Cholesterol Esterification Block, Niemann-Pick Type C Disease, Niemann Pick disease, Subacute Juvenile Form, Niemann-Pick Disease Type D, Niemann-Pick Type D Disease, Niemann Pick Disease, Type C, Niemann-Pick Disease, Chronic Neuronopathic Form, Niemann Pick Disease, Type D, Nova Scotia Niemann-Pick Disease (Type D), Niemann-Pick's Disease Type C, Niemann-Pick's Disease Type D, Niemann-Pick disease, Subacute Juvenile Form, Niemann Pick Disease, Nova Scotian, Niemann Pick Disease, Type C1, Niemann Pick Disease, Chronic Neuronopathic Form, Niemann Pick Disease Type D, Niemann Pick Disease Type C, Nova Scotia (Type D) Form of Niemann-Pick Disease, Niemann-Pick Disease without Sphingomyelinase Deficiency, Niemann-Pick Disease, Type C1, Niemann Pick Disease without Sphingomyelinase Deficiency, Niemann Pick's Disease Type C, Niemann Pick's Disease Type D, Niemann Pick Type D Disease, Nova Scotia Niemann Pick Disease (Type D), Niemann-Pick Disease, Nova Scotian, Niemann Pick Type C Disease, Niemann-Pick Disease, Type C, Niemann-Pick Disease, Type D