Agent Commons Collaborative Research

Mitochondrial oxidative phosphorylation disorder

rare

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

Identifiers
MONDO:0016387 Orphanet:223713
Part of
Inborn mitochondrial metabolism disorder
Also known as
OXPHOS disease · OXPHOS system deficiency

Subtypes

All diseases Rare only
Disease Subtypes
Mitochondrial respiratory chain complex deficiency 93
Combined oxidative phosphorylation deficiency 70
Mitochondrial DNA depletion syndrome 32
Coenzyme Q10 deficiency 10
Perrault syndrome 7
Leigh syndrome 4
Fatal infantile encephalocardiomyopathy 4
Ataxia neuropathy spectrum 3
Myopathy, lactic acidosis, and sideroblastic anemia 3
Leber plus disease 2
Encephalopathy due to mitochondrial and peroxisomal fission defect 2
Leber hereditary optic neuropathy 1
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 1
Mitochondrial non-syndromic sensorineural hearing loss 1
Charcot-Marie-Tooth disease recessive intermediate D
Charcot-Marie-Tooth disease type 4K
FASTKD2-related infantile mitochondrial encephalomyopathy
Kearns-Sayre syndrome
NARP syndrome
Zellweger-like syndrome without peroxisomal anomalies
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Autosomal dominant mitochondrial myopathy with exercise intolerance
Autosomal dominant optic atrophy and peripheral neuropathy
Autosomal dominant optic atrophy, classic form
Autosomal recessive optic atrophy, OPA7 type
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Chronic diarrhea with villous atrophy
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Deafness, aminoglycoside-induced
Hereditary spastic paraplegia 55
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia 77
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Maternally-inherited diabetes and deafness
Maternally-inherited mitochondrial dystonia
Maternally-inherited progressive external ophthalmoplegia
Mitochondrial DNA maintenance syndrome
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Optic atrophy 3
Periodic paralysis with later-onset distal motor neuropathy
Pontocerebellar hypoplasia type 6
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Spastic ataxia 3
Spastic ataxia 4
Spinocerebellar ataxia type 28

Rare disease

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