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GENATLAS PHENOTYPE
last update : 09-11-2022
Symbol CLN2
Location 11p15.4
Name ceroid-lipofuscinosis, neuronal, 2
Other name(s)
  • Jansky-Bielschowsky disease
  • late infantile neuronal ceroid-lipofuscinosis
    • Corresponding gene TPP1
    related resource Neuronal Ceroid Lipofuscinoses
    Other symbol(s) TPP1, NLC, LINCL
    Main clinical features
  • late infantile, an onset between 2 and 4 years, with epilepsy soon followed by dementia and ataxia, late visual failure with macular and peripheral retinal degeneration, optic atrophy, peculiar response to photic stimulation on the ERG, brain atrophy death between 6 and 15 years of age
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    neurology
    eye
    Type disease
    Gene product
    Name ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease) gene
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function disrupting transport of tripeptidyl-peptidase I to lysosomes
    Remark(s)