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Niemann-Pick Disease, Type C MeSH Descriptor Data 2026
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.
Entry Version
NEIMANN PICK DIS TYPE C
Entry Term(s)
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
Niemann-Pick Disease Type C
Niemann-Pick Disease Type D
Niemann-Pick Disease with Cholesterol Esterification Block
Niemann-Pick Disease without Sphingomyelinase Deficiency
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.