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GENATLAS PHENOTYPE

last update : 7/11/2005

Symbol	NPD
Location	18q11.2
Name	Niemann-Pick disease type D
Corresponding gene	NPC1
Main clinical features	characterized by ataxic gait, hepatosplenomegaly, eventual progression to dementia, dysarthria, dystonia, seizures but distinguished of type C by its less severe phenotype and by the Acadian ancestry type, due to an error in cellular trafficking of exogenous cholesterol with lysosomal accumulation of unesterified cholesterol
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
	neurology
Type	disease

Gene product

Name	regulator of cholesterol trafficking (NPC1)

Remark(s)