Niemann-Pick disease type C, abbreviated NPC and informally called childhood Alzheimer disease, is a lysosomal storage disease linked to mutations in the NPC1 and NPC2 genes. It affects an estimated one person in 150,000. About half of cases first appear before the age of ten, although in some people the manifestations are not recognized until as late as the sixth decade of life. Despite the shared name, type C has very little to do with Niemann-Pick disease associated with the SMPD1 gene, even though the two were once thought to be the same disease. The wide spread in age at onset means the disease can begin in childhood or, less often, in adult life.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. National Library of Medicine: MeSH Descriptor Data: Niemann-Pick Disease, Type C
National Library of MedicineMeSH tree number C10.228.140.163.100.435.825.700.875
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 .
MeSH tree number C15.604.250.410.625.875
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 .
View the Source 2. Niemann-Pick disease type C (Wikipedia)
Lead, first sentence
is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes
lead sentence 1
Niemann-Pick type C (NPC) (colloquially, "Childhood Alzheimer's") is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes.
Lead: disease category
Niemann-Pick type C (NPC) (colloquially, "Childhood Alzheimer's") is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes.
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