Niemann-Pick Disease, Type C

Synonyms

Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia

Niemann Pick Disease Type D

Niemann Pick Disease with Cholesterol Esterification Block

Niemann Pick Disease without Sphingomyelinase Deficiency

Niemann Pick Disease, Chronic Neuronopathic Form

Niemann Pick Disease, Nova Scotian

Niemann Pick Disease, Type C

Niemann Pick Disease, Type D

Niemann Pick disease, Subacute Juvenile Form

Niemann Pick's Disease Type C

Niemann Pick's Disease Type D

Niemann-Pick Disease Type D

Niemann-Pick Disease with Cholesterol Esterification Block

Niemann-Pick Disease without Sphingomyelinase Deficiency

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease, Nova Scotian

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type D

Niemann-Pick disease, Subacute Juvenile Form

Niemann-Pick's Disease Type C

Niemann-Pick's Disease Type D

Nova Scotia (Type D) Form of Niemann-Pick Disease

Nova Scotia Niemann Pick Disease (Type D)

Nova Scotia Niemann-Pick Disease (Type D)

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.