Mitochondrial oxidative phosphorylation disorder

Part of

Sub-types of Mitochondrial oxidative phosphorylation disorder

• Leber hereditary optic neuropathy 18 trials
  1 sub-type

  • Leber optic atrophy and dystonia 0 trials
• Mitochondrial DNA depletion syndrome 3 trials · 11 incl. sub-types
  21 sub-types

  • Mitochondrial DNA depletion syndrome, hepatocerebral form 0 trials · 4 incl. sub-types Sub-types →
  • Mitochondrial DNA depletion syndrome, myopathic form 4 trials
  • AFG3L2-related optic atrophy and/or spastic ataxia spectrum 0 trials Sub-types →
  • Sengers syndrome 0 trials
  • Mitochondrial DNA deletion syndrome with progressive myopathy 0 trials
  • Mitochondrial DNA depletion syndrome 1 0 trials
  • Mitochondrial DNA depletion syndrome 11 0 trials
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 0 trials
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 0 trials
  • Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) 0 trials
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 0 trials
  • Mitochondrial DNA depletion syndrome 16 (hepatic type) 0 trials
  • Mitochondrial DNA depletion syndrome 17 0 trials
  • Mitochondrial DNA depletion syndrome 18 0 trials
  • Mitochondrial DNA depletion syndrome 19 0 trials
  • Mitochondrial DNA depletion syndrome 20 (mngie type) 0 trials
  • Mitochondrial DNA depletion syndrome 4b 0 trials
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form 0 trials Sub-types →
  • Mitochondrial dna depletion syndrome 14A (encephalomyopathic type) 0 trials
  • Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) 0 trials
  • Mitochondrial dna depletion syndrome 21 0 trials
• Leigh syndrome 9 trials
  4 sub-types

  • Maternally-inherited Leigh syndrome 1 trial
  • Leigh syndrome with cardiomyopathy 0 trials
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 trials
  • Necrotizing encephalomyelopathy, subacute, of Leigh, adult 0 trials
• Kearns-Sayre syndrome 5 trials
• Maternally-inherited diabetes and deafness 5 trials
• Mitochondrial respiratory chain complex deficiency 4 trials · 5 incl. sub-types
  9 sub-types

  • Mitochondrial complex I deficiency 2 trials Sub-types →
  • Mitochondrial complex IV deficiency, nuclear-type 1 trial Sub-types →
  • SDHC-related Mitochondrial Disease 0 trials
  • Mitochondrial complex III deficiency 0 trials Sub-types →
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 0 trials
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 0 trials
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 0 trials
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B 0 trials
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 0 trials
• Deafness, aminoglycoside-induced 4 trials
• NARP syndrome 3 trials
• Autosomal dominant optic atrophy, classic form 3 trials
• Coenzyme Q10 deficiency 3 trials
  10 sub-types

  • COQ7-related distal hereditary motor neuropathy 0 trials
  • Autosomal recessive ataxia due to ubiquinone deficiency 0 trials
  • Coenzyme Q10 deficiency, primary, 1 0 trials
  • Coenzyme Q10 deficiency, primary, 3 0 trials
  • Coenzyme q10 deficiency, primary, 9 0 trials
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 0 trials
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 0 trials
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 trials
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 trials
  • Primary coenzyme Q10 deficiency 8 0 trials
• Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 3 trials
• Myopathy, lactic acidosis, and sideroblastic anemia 3 trials
  3 sub-types

  • Myopathy, lactic acidosis, and sideroblastic anemia 1 0 trials
  • Myopathy, lactic acidosis, and sideroblastic anemia 2 0 trials
  • Myopathy, lactic acidosis, and sideroblastic anemia 3 0 trials
• Ataxia neuropathy spectrum 2 trials
  2 sub-types

  • Recessive mitochondrial ataxia syndrome 2 trials
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 trial Sub-types →
• Pontocerebellar hypoplasia type 6 2 trials
• Leber plus disease 1 trial · 2 incl. sub-types
  2 sub-types

  • Optic atrophy with demyelinating disease of CNS 1 trial
  • Leber optic atrophy and dystonia 0 trials
• Hereditary spastic paraplegia 7 1 trial
• Charcot-Marie-Tooth disease recessive intermediate D 0 trials
• Charcot-Marie-Tooth disease type 4K 0 trials
• FASTKD2-related infantile mitochondrial encephalomyopathy 0 trials
• Perrault syndrome 0 trials
  7 sub-types

  • Perrault syndrome 1 0 trials
  • Perrault syndrome 2 0 trials
  • Perrault syndrome 3 0 trials
  • Perrault syndrome 4 0 trials
  • Perrault syndrome 5 0 trials
  • Perrault syndrome 6 0 trials
  • Perrault syndrome 7 0 trials
• Zellweger-like syndrome without peroxisomal anomalies 0 trials
• Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 0 trials
• Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 0 trials
  1 sub-type

  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 0 trials
• Autosomal dominant mitochondrial myopathy with exercise intolerance 0 trials
• Autosomal dominant optic atrophy and peripheral neuropathy 0 trials
• Autosomal recessive optic atrophy, OPA7 type 0 trials
• Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 trials
• Chronic diarrhea with villous atrophy 0 trials
• Combined oxidative phosphorylation deficiency 0 trials
  58 sub-types

  • Combined oxidative phosphorylation defect type 11 0 trials
  • Combined oxidative phosphorylation defect type 13 0 trials
  • Combined oxidative phosphorylation defect type 14 0 trials
  • Combined oxidative phosphorylation defect type 15 0 trials
  • Combined oxidative phosphorylation defect type 17 0 trials
  • Combined oxidative phosphorylation defect type 2 0 trials
  • Combined oxidative phosphorylation defect type 20 0 trials
  • Combined oxidative phosphorylation defect type 21 0 trials
  • Combined oxidative phosphorylation defect type 23 0 trials
  • Combined oxidative phosphorylation defect type 24 0 trials
  • Combined oxidative phosphorylation defect type 25 0 trials
  • Combined oxidative phosphorylation defect type 26 0 trials
  • Combined oxidative phosphorylation defect type 27 0 trials
  • Combined oxidative phosphorylation defect type 30 0 trials
  • Combined oxidative phosphorylation defect type 4 0 trials
  • Combined oxidative phosphorylation defect type 7 0 trials
  • Combined oxidative phosphorylation defect type 8 0 trials
  • Combined oxidative phosphorylation defect type 9 0 trials
  • Combined oxidative phosphorylation deficiency 19 0 trials
  • Combined oxidative phosphorylation deficiency 28 0 trials
  • Combined oxidative phosphorylation deficiency 29 0 trials
  • Combined oxidative phosphorylation deficiency 32 0 trials
  • Combined oxidative phosphorylation deficiency 33 0 trials
  • Combined oxidative phosphorylation deficiency 34 0 trials
  • Combined oxidative phosphorylation deficiency 35 0 trials
  • Combined oxidative phosphorylation deficiency 36 0 trials
  • Combined oxidative phosphorylation deficiency 37 0 trials
  • Combined oxidative phosphorylation deficiency 38 0 trials
  • Combined oxidative phosphorylation deficiency 39 0 trials
  • Combined oxidative phosphorylation deficiency 40 0 trials
  • Combined oxidative phosphorylation deficiency 41 0 trials
  • Combined oxidative phosphorylation deficiency 42 0 trials
  • Combined oxidative phosphorylation deficiency 43 0 trials
  • Combined oxidative phosphorylation deficiency 44 0 trials
  • Combined oxidative phosphorylation deficiency 45 0 trials
  • Combined oxidative phosphorylation deficiency 46 0 trials
  • Combined oxidative phosphorylation deficiency 47 0 trials
  • Combined oxidative phosphorylation deficiency 48 0 trials
  • Combined oxidative phosphorylation deficiency 51 0 trials
  • Combined oxidative phosphorylation deficiency 52 0 trials
  • Combined oxidative phosphorylation deficiency 53 0 trials
  • Combined oxidative phosphorylation deficiency 54 0 trials
  • Combined oxidative phosphorylation deficiency 55 0 trials
  • Combined oxidative phosphorylation deficiency 56 0 trials
  • Combined oxidative phosphorylation deficiency 57 0 trials
  • Combined oxidative phosphorylation deficiency 58 0 trials
  • Combined oxidative phosphorylation deficiency 59 0 trials
  • Combined oxidative phosphorylation deficiency 60 0 trials
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 0 trials
  • Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 0 trials
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 trials
  • Hypotonia with lactic acidemia and hyperammonemia 0 trials
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 0 trials
  • Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 trials
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 trials
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0 trials
  • Mitochondrial proton-transporting ATP synthase complex deficiency 0 trials Sub-types →
  • Severe X-linked mitochondrial encephalomyopathy 0 trials
• Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 trials
• Encephalopathy due to mitochondrial and peroxisomal fission defect 0 trials
  2 sub-types

  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 0 trials
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 trials
• Fatal infantile encephalocardiomyopathy 0 trials
  4 sub-types

  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 trials
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 0 trials
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 0 trials
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 0 trials
• Hereditary spastic paraplegia 55 0 trials
• Hereditary spastic paraplegia 77 0 trials
• Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 0 trials
• Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 0 trials
• Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 0 trials
• Maternally-inherited mitochondrial dystonia 0 trials
• Maternally-inherited progressive external ophthalmoplegia 0 trials
• Mitochondrial DNA maintenance syndrome 0 trials
• Mitochondrial non-syndromic sensorineural hearing loss 0 trials
  1 sub-type

  • Hearing loss, sensorineural, autosomal-mitochondrial type 0 trials
• Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 0 trials
• Optic atrophy 3 0 trials
• Periodic paralysis with later-onset distal motor neuropathy 0 trials
• Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 0 trials
• Spastic ataxia 3 0 trials
• Spastic ataxia 4 0 trials
• Spinocerebellar ataxia type 28 0 trials