4.2.b

Disorders of mitochondrial and peroxisomal dynamics

  • OPA1 deficiency (Optic atrophy type 1, dominant; Behr syndrome, recessive)
  • OPA3 deficiency (Optic atrophy type 3, dominant; 3-methylglutaconic aciduria type 3, Costeff syndrome, recessive)
  • Mitofusin 2 deficiency (Axonal Charcot-Marie-Tooth type 2A2)
  • MSTO1 deficiency (Mitochondrial myopathy and ataxia)
  • MIEF2 deficiency
  • Dynamin-like protein 1 deficiency (Optic atrophy type 5; encephalopathy due to defective mitochondrial and peroxisomal fission type 1)
  • Mitochondrial fission factor deficiency (Encephalopathy due to defective mitochondrial and peroxisomal fission type 2)
  • Spartin deficiency
  • SPATA5 deficiency
  • GDAP1 deficiency (Axonal Charcot-Marie-Tooth type 2K; demyelinating Charcot-Marie-Tooth disease type 4A)
  • STAT2 deficiency (Immunodeficiency type 44)
  • UGO-1 like protein deficiency (Hereditary motor and sensory neuropathy type 6B)
  • Trafficking kinesin-binding protein 1 deficiency

Subnetworks

PM MD 1

PM-MD

Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism
PD 1 1

PD

Peroxisomal and lipid-related disorders

Hey, want to upgrade to pro plan?

18748

Upgrade Now

& get 25% off

Offer valid only for 24 hrs.

18749
Scroll to Top