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Disease Mitochondrial Diseases

Name Mitochondrial Diseases
Synonyms Deficiencies, Oxidative Phosphorylation | Deficiencies, Respiratory Chain | Deficiency, Oxidative Phosphorylation | Deficiency, Respiratory Chain | Disease, Mitochondrial | Disorder, Mitochondrial | Disorders, Mitochondrial | Electron Transport Chain Deficiencies, Mitochondrial | Mitochondrial Disease | Mitochondrial Disorder | Mitochondrial Disorders | Mitochondrial Electron Transport Chain Deficiencies | Mitochondrial Respiratory Chain Deficiencies | Oxidative Phosphorylation Deficiencies | Oxidative Phosphorylation Deficiency | Phosphorylation Deficiencies, Oxidative | Phosphorylation Deficiency, Oxidative | Respiratory Chain Deficiencies, Mitochondrial | Respiratory Chain Deficiency
Definition Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Categories Metabolic disease
MeSH® ID D028361
External Links

Top ↑ Ancestors

DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Mitochondrial Diseases Has associated chemicals Has associated genes

Top ↑ Descendants

Mitochondrial Diseases Has associated chemicals Has associated genes
  3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Has associated chemicals Has associated genes
  Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Has associated chemicals Has associated genes
  Ataxia and Polyneuropathy, Adult-Onset
  Ataxia Neuropathy Spectrum
  Bjornstad syndrome Has associated chemicals Has associated genes
  Carbamoyl-Phosphate Synthase I Deficiency Disease Has associated chemicals Has associated genes
  Carnitine Palmitoyltransferase II Deficiency, Late-Onset Has associated chemicals Has associated genes
  Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Has associated chemicals Has associated genes
  Childhood Myocerebrohepatopathy Spectrum
View node Coenzyme Q10 Deficiency Has associated chemicals Has associated genes
  Combined Oxidative Phosphorylation Deficiency 4 Has associated chemicals Has associated genes
  Combined Oxidative Phosphorylation Deficiency 5 Has associated chemicals Has associated genes
  Cowden-Like Syndrome Has associated chemicals Has associated genes
View node Cytochrome-c Oxidase Deficiency Has associated chemicals Has associated genes
  Deoxyguanosine Kinase Deficiency Has associated chemicals Has associated genes
  Finnish lethal neonatal metabolic syndrome Has associated chemicals Has associated genes
View node Friedreich Ataxia Has associated chemicals Has associated genes
  Hypermetabolism due to Defect in Mitochondria
  Hypomyelination, Global Cerebral Has associated chemicals Has associated genes
  Hypotonia-Cystinuria Syndrome Has associated chemicals Has associated genes
View node Kearns-Sayre Syndrome Has associated chemicals Has associated genes
View node Leigh Disease Has associated chemicals Has associated genes
  Leukodystrophy, Hypomyelinating, 4 Has associated chemicals Has associated genes
  Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Has associated chemicals Has associated genes
  Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
  Mitochondrial complex I deficiency Has associated chemicals Has associated genes
  Mitochondrial Complex II Deficiency Has associated chemicals Has associated genes
View node Mitochondrial Complex III Deficiency Has associated chemicals Has associated genes
  MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 Has associated chemicals Has associated genes
  MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) Has associated chemicals Has associated genes
  MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) Has associated chemicals Has associated genes
  MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) Has associated chemicals Has associated genes
  MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) Has associated chemicals Has associated genes
  Mitochondrial DNA Depletion Syndrome, Myopathic Form
View node Mitochondrial Myopathies Has associated chemicals Has associated genes
  Mitochondrial Phosphate Carrier Deficiency Has associated chemicals Has associated genes
View node Multiple Acyl Coenzyme A Dehydrogenase Deficiency Has associated chemicals Has associated genes
  Multiple Mitochondrial Dysfunctions Syndrome
  MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 Has associated chemicals Has associated genes
  Myopathy, Cataract, Hypogonadism Syndrome
  Myopathy with Giant Abnormal Mitochondria
View node Navajo neurohepatopathy Has associated chemicals Has associated genes
  Noninsulin-dependent diabetes mellitus with deafness Has associated genes
  Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
  Optic Atrophy, Autosomal Dominant Has associated chemicals Has associated genes
View node Optic Atrophy, Hereditary, Leber Has associated chemicals Has associated genes
  Parkinson Disease, Mitochondrial
  Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
  Progressive External Ophthalmoplegia With Hypogonadism
  Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 Has associated chemicals Has associated genes
  Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 Has associated chemicals Has associated genes
  Proximal Myopathy with Focal Depletion of Mitochondria
View node Pyruvate Carboxylase Deficiency Disease Has associated chemicals Has associated genes
View node Pyruvate Dehydrogenase Complex Deficiency Disease Has associated chemicals Has associated genes
  Sarcosinemia Has associated chemicals Has associated genes
  Spinocerebellar Ataxia with Epilepsy
  Succinate-Coa Ligase Deficiency
  VDAC Deficiency
  VLCAD deficiency Has associated chemicals Has associated genes
  Wolfram Syndrome 2 Has associated chemicals Has associated genes