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Up to: Inborn mitochondrial metabolism disorder

Mitochondrial oxidative phosphorylation disorder

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

3 trials tagged with this condition →

Leber hereditary optic neuropathy 18 trials Sub-types →
Mitochondrial DNA depletion syndrome 3 trials · 11 incl. sub-types Sub-types →
Leigh syndrome 9 trials Sub-types →
Kearns-Sayre syndrome 5 trials
Maternally-inherited diabetes and deafness 5 trials
Mitochondrial respiratory chain complex deficiency 4 trials · 5 incl. sub-types Sub-types →
Deafness, aminoglycoside-induced 4 trials
NARP syndrome 3 trials
Autosomal dominant optic atrophy, classic form 3 trials
Coenzyme Q10 deficiency 3 trials Sub-types →
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 3 trials
Myopathy, lactic acidosis, and sideroblastic anemia 3 trials Sub-types →
Ataxia neuropathy spectrum 2 trials Sub-types →
Pontocerebellar hypoplasia type 6 2 trials
Leber plus disease 1 trial · 2 incl. sub-types Sub-types →
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 Sub-types →
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 Sub-types →
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 Sub-types →
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 trials
Encephalopathy due to mitochondrial and peroxisomal fission defect 0 trials Sub-types →
Fatal infantile encephalocardiomyopathy 0 trials 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 Sub-types →
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