Mitochondrial oxidative phosphorylation disorder

MONDO:0016387

A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system.

Also known as: OXPHOS disease, OXPHOS system deficiency

63 clinical trials for this condition and its sub-types, 3 tagged with Mitochondrial oxidative phosphorylation disorder itself.

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Where it sits in the disease tree

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Part of

↑ Inborn mitochondrial metabolism disorder (127)

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
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
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

Most studied deeper sub-types

Including sub-types (63) Tagged with Mitochondrial oxidative phosphorylation disorder (3)

Trials to join now! 25 Not yet recruiting 6 Not yet finished but already full! 16 Completed 15 Terminated 1

Mitochondrial oxidative phosphorylation disorder

Where it sits in the disease tree

Most studied deeper sub-types

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