Niemann-Pick Disease, Type C

**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 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.

**Tree numbers:** - C10.228.140.163.100.435.825.700.875 - C15.604.250.410.625.875 - C16.320.565.189.435.825.700.875 - C16.320.565.398.641.803.730.875 - C16.320.565.595.554.825.700.875 - C18.452.132.100.435.825.700.875 - C18.452.584.563.641.803.730.875 - C18.452.648.189.435.825.700.875 - C18.452.648.398.641.803.730.875 - C18.452.648.595.554.825.700.875

**Synonyms:** - Niemann-Pick Type C Disease - Niemann-Pick's Disease Type C - Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia - Niemann-Pick Disease without Sphingomyelinase Deficiency - Niemann-Pick Disease, Chronic Neuronopathic Form - Niemann-Pick Disease Type C - Niemann-Pick Disease with Cholesterol Esterification Block