4.3.e

Disorders of autophagy

  • EPG5 deficiency Vici syndrome
  • WDR45 deficiency (Neurodegeneration with brain iron accumulation type 5; static encephalopathy of childhood with neurodegeneration in adulthood, SENDA; β-propeller protein-associated neurodegeneration, BPAN)
  • SNX14 deficiency (Autosomal recessive spinocerebellar ataxia type 2)
  • Spatacsin deficiency (Autosomal recessive spastic paraplegia type 11; axonal Charcot-Marie- Tooth disease type 2X; juvenile amyotrophic lateral sclerosis type 5)
  • Spastizin deficiency (Autosomal recessive spastic paraplegia type 15; Kjellin syndrome)
  • AP5Z1 deficiency (Autosomal recessive spastic paraplegia type 48)
  • TECPR2 deficiency (Autosomal recessive spastic paraplegia type 49)
  • TBK1 deficiency (Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4)
  • RAB7 deficiency (Charcot-Marie-Tooth disease type 2B)
  • ATG5 deficiency (Autosomal recessive spinocerebellar ataxia type 25)

Subnetworks

LSD 1

LSD

Lysosomal storage disorders

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