Niemann-Pick Disease with Cholesterol Esterification Block

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease, Type C

Niemann-Pick Disease without Sphingomyelinase Deficiency

Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia

Niemann-Pick's Disease Type C

C0220756

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.

D052556

Niemann-Pick Disease, Type C

M0335789

DISEASE_KIND

N0000181063

N0000181063

Niemann-Pick Disease, Type C [Disease/Finding]

T047