4.3.d

Neuronal ceroid lipofuscinosis

  • Palmitoyl-protein thioesterase 1 deficiency (CLN1 disease; Santavuori-Haltia disease)
  • Tripeptidyl-peptidase 1 deficiency (CLN2 disease, Jansky-Bielchowsky disease, severe; autosomal recessive spinocerebellar ataxia type 7, milder)
  • CLN3 disease (Vogt-Spielmeyer disease)
  • CLN4 disease (Autosomal dominant Kufs disease)
  • CLN5 disease
  • CLN6 disease (Autosomal recessive Kufs disease type A)
  • CLN7 disease (Macular dystrophy with central cone involvement, milder)
  • CLN8 disease
  • Cathepsin D deficiency (CLN10 disease)
  • Progranulin deficiency (Frontotemporal lobar degeneration with TDP-43 inclusions, dominant; CLN11 disease, recessive)
  • ATP13A2 deficiency (CLN12 disease; Kufor-Rakeb syndrome; Parkinson disease type 9; autosomal recessive spastic paraplegia type 78)
  • Cathepsin F deficiency (Autosomal recessive Kufs disease type B; CLN13 disease)
  • CLN14 disease Progressive myoclonic epilepsy type 3

Subnetworks

LSD 1

LSD

Lysosomal storage disorders

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