Mitochondrial disease

Part of

Sub-types of Mitochondrial disease

• Inborn mitochondrial metabolism disorder 59 trials · 127 incl. sub-types
  14 sub-types

  • Mitochondrial oxidative phosphorylation disorder 3 trials · 58 incl. sub-types Sub-types →
  • Inborn mitochondrial myopathy 18 trials · 45 incl. sub-types Sub-types →
  • Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types Sub-types →
  • Histiocytoid cardiomyopathy 3 trials Sub-types →
  • Fumaric aciduria 2 trials
  • OPA1-related optic atrophy with or without extraocular features 1 trial Sub-types →
  • Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types Sub-types →
  • Multiple acyl-CoA dehydrogenase deficiency 1 trial Sub-types →
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 trials
  • HSD10 mitochondrial disease 0 trials Sub-types →
  • Hypotonia-cystinuria syndrome 0 trials Sub-types →
  • Mitochondrial membrane transport disorder 0 trials Sub-types →
  • Mitochondrial pyruvate carrier deficiency 0 trials
  • Oxoglutaricaciduria 0 trials
• ACO2-related optic atrophy with or without extraocular features 0 trials
  1 sub-type

  • Optic atrophy 9 0 trials
• Bjornstad syndrome 0 trials
• FDXR-related optic atrophy mitochondrial dysfunction syndrome 0 trials
  3 sub-types

  • Auditory neuropathy-optic atrophy syndrome 0 trials
  • Multiple mitochondrial dysfunctions syndrome 9b 0 trials
  • Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 0 trials
• GRACILE syndrome 0 trials
• X-linked sideroblastic anemia with ataxia 0 trials
• Autosomal dominant optic atrophy plus syndrome 0 trials
  4 sub-types

  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 trials
  • Optic atrophy 8 0 trials
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 0 trials
  • Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant 0 trials
• Ethylmalonic encephalopathy 0 trials
• Hereditary myopathy with lactic acidosis due to ISCU deficiency 0 trials
• Maternally-inherited cardiomyopathy and hearing loss 0 trials
• Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 trials
• Pure mitochondrial myopathy 0 trials