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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)