Niemann-Pick Disease, Type C (NPC1-Related) (NPC1)

Niemann-Pick disease, type C (NPC1-related) is an autosomal recessive, pan-ethnic neurodegenerative disorder that is caused by pathogenic variants in the gene NPC1. The classic presentation includes spastic ataxia and seizures that begin between the ages of 2 and 4, often after a period of normal development. Progressive deterioration leads to the loss of previously learned speech, dystonia that eventually prevents oral feeding, and dementia. Most patients die in adolescence. Some patients may present in infancy with liver and lung problems, many of whom die in infancy. Occasionally, patients can present in adolescence or adulthood with neurologic manifestations. Several specific variants may be associated with the development of either the severe infantile or typical juvenile form, but some variants may not be associated with a known genotype-phenotype correlation.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Niemann-Pick Disease, Type C (NPC1-Related)NPC14-24 [25] (*15)ARCaucasian1 in 18541%0.00319488817891374
Niemann-Pick Disease, Type C (NPC1-Related)NPC14-24 [25] (*15)ARAsian1 in 40435%0.00161030595813205
Niemann-Pick Disease, Type C (NPC1-Related)NPC14-24 [25] (*15)ARWorldwide1 in 28239%0.00216450216450216
Niemann-Pick Disease, Type C (NPC2-Related)NPC21-4 [5] (*10)ARWorldwide< 1 in 50065%0.000700770847932726