Mitochondrial Disorders

Categories: Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Disorders

MalaCards integrated aliases for Mitochondrial Disorders:

Name: Mitochondrial Disorders 24
Mitochondrial Diseases 29 55 6 43 72
Mitochondrial Myopathies 24 54 55 72
Mitochondrial Encephalomyopathies 24 55 72
Mitochondrial Disease 59 37
Mitochondrial Respiratory Chain Deficiencies 72
Oxidative Phosphorylation Disorders 24
Respiratory Chain Deficiency 55
Respiratory Chain Disorders 24
Mitochondrial Disorder 40


External Ids:

KEGG 37 H01427
MESH via Orphanet 45 D028361
UMLS via Orphanet 73 C0751651
Orphanet 59 ORPHA68380
UMLS 72 C0162666 C0162670 C0751651 more

Summaries for Mitochondrial Disorders

MedlinePlus : 43 Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process. Mitochondrial diseases are a group of metabolic disorders. Mitochondria are small structures that produce energy in almost all of your cells. They make it by combining oxygen with the fuel molecules (sugars and fats) that come from your food. When the mitochondria are defective, the cells do not have enough energy. The unused oxygen and fuel molecules build up in the cells and cause damage. The symptoms of mitochondrial disease can vary. It depends on how many mitochondria are defective, and where they are in the body. Sometimes only one organ, tissue, or cell type is affected. But often the problem affects many of them. Muscle and nerve cells have especially high energy needs, so muscular and neurological problems are common. The diseases range from mild to severe. Some types can be fatal. Genetic mutations cause these diseases. They usually happen before age 20, and some are more common in infants. There are no cures for these diseases, but treatments may help with symptoms and slow down the disease. They may include physical therapy, vitamins and supplements, special diets, and medicines.

MalaCards based summary : Mitochondrial Disorders, also known as mitochondrial diseases, is related to diabetes and deafness, maternally inherited and myoclonic epilepsy associated with ragged-red fibers, and has symptoms including muscle weakness, myalgia and muscle cramp. An important gene associated with Mitochondrial Disorders is TMEM126B (Transmembrane Protein 126B), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and purine nucleotides de novo biosynthesis. The drugs Atorvastatin and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and liver.

KEGG : 37
Mitochondrial diseases are clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondria. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA. While some mitochondrial disorders only affect a single organ, most of them involve multiple organ systems and often present with prominent neurologic and myopathic features.

Wikipedia : 75 Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles... more...

GeneReviews: NBK1224

Related Diseases for Mitochondrial Disorders

Diseases in the Mitochondrial Disorders family:

Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis

Diseases related to Mitochondrial Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 898)
# Related Disease Score Top Affiliating Genes
1 diabetes and deafness, maternally inherited 32.8 MT-TL1 MT-TE
2 myoclonic epilepsy associated with ragged-red fibers 32.5 TWNK POLG MT-TL1 MT-ND5
3 mitochondrial dna depletion syndrome 7 32.3 TWNK SLC25A4
4 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.1 TWNK POLG MT-TL1 MT-ND5 MT-CO2 MT-ATP6
5 optic nerve disease 31.2 OPA1 MT-ND5 MT-ATP6
6 lactic acidosis 30.9 RMND1 POLG MT-ND5 MT-ATP6
7 leber optic atrophy 30.8 MT-ND5 MT-CO2 MT-ATP6
8 neuropathy 30.8 TWNK POLG MT-ND5 MT-ATP6
9 mitochondrial neurogastrointestinal encephalomyopathy 30.6 RRM2B POLG
10 ataxia neuropathy spectrum 30.5 TWNK POLG
11 ptosis 30.5 RRM2B POLG OPA1
12 mitochondrial dna depletion syndrome 1 30.5 POLG MT-CO2 MT-ATP6
13 mitochondrial encephalomyopathy 30.4 MT-TL2 MT-TL1 MT-ND5 MT-CO2 MT-ATP6
14 mitochondrial dna depletion syndrome 4a 30.3 TWNK POLG
15 leigh syndrome 30.3 POLG MT-TL1 MT-ND5 MT-CO2 MT-ATP6 GFM2
16 cardiomyopathy, infantile hypertrophic 30.3 MT-CO2 MT-ATP6
17 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 30.2 TWNK POLG
18 deafness, nonsyndromic sensorineural, mitochondrial 30.2 MT-ND5 MT-CO2 MT-ATP6
19 axonal neuropathy 30.1 TWNK SLC25A4 POLG
20 mitochondrial myopathy 30.1 SLC25A4 POLG MT-TL2 MT-TL1 MT-ND5 MT-CO2
21 mitochondrial dna depletion syndrome 29.8 TWNK RRM2B POLG
22 kearns-sayre syndrome 29.8 TWNK SLC25A4 RRM2B POLG MT-TL1 MT-ND5
23 muscular disease 29.6 TWNK SLC25A4 POLG MT-TL1 MT-ND5
24 spastic paraplegia 7, autosomal recessive 29.5 SPG7 OPA1
25 autosomal dominant progressive external ophthalmoplegia 29.5 TWNK SLC25A4 RRM2B POLG OPA1
26 chronic progressive external ophthalmoplegia 29.2 TWNK SPG7 SLC25A4 RRM2B POLG MT-TL2
27 mitochondrial metabolism disease 25.5 TWNK TOP3A TMEM126B SPG7 SLC25A4 RRM2B
28 mitochondrial myopathy with lactic acidosis 12.8
29 mitochondrial myopathy with diabetes 12.6
30 mitochondrial myopathy, lethal, infantile 12.5
31 mitochondrial dna-related mitochondrial myopathy 12.5
32 mitochondrial oxidative phosphorylation disorder due to nuclear dna anomalies 12.4
33 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial dna 12.4
34 mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial dna 12.4
35 mitochondrial oxidative phosphorylation disorder due to mitochondrial dna anomalies 12.4
36 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial dna 12.4
37 hsd10 mitochondrial disease 12.4
38 mitochondrial oxidative phosphorylation disorder with no known mechanism 12.4
39 fastkd2-related infantile mitochondrial encephalomyopathy 12.3
40 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 12.3
41 mitochondrial myopathy with a defect in mitochondrial-protein transport 12.3
42 rrm2b-related mitochondrial disease 12.2
43 isca2-related mitochondrial disorder 12.2
44 myopathy, isolated mitochondrial, autosomal dominant 12.2
45 mitochondrial disease with epilepsy 12.2
46 myopathy, lactic acidosis, and sideroblastic anemia 1 12.1
47 obsolete: mitochondrial disorder due to a transcription or a translation defect of mitochondrial dna 12.1
48 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.1
49 unspecified mitochondrial disorder 12.1
50 mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes 12.1

Graphical network of the top 20 diseases related to Mitochondrial Disorders:

Diseases related to Mitochondrial Disorders

Symptoms & Phenotypes for Mitochondrial Disorders

UMLS symptoms related to Mitochondrial Disorders:

muscle weakness, myalgia, muscle cramp, muscle rigidity, muscle spasticity

Drugs & Therapeutics for Mitochondrial Disorders

Drugs for Mitochondrial Disorders (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Atorvastatin Approved Phase 4 134523-00-5 60823
2 Vaccines Phase 4
3 Lipid Regulating Agents Phase 4
4 Hypolipidemic Agents Phase 4
5 Antimetabolites Phase 4
6 insulin Phase 4
7 Insulin, Globin Zinc Phase 4
8 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
9 Anticholesteremic Agents Phase 4
10 Anesthetics Phase 3
11 Central Nervous System Depressants Phase 3
12 Pharmaceutical Solutions Phase 3
13 Anti-Infective Agents, Local Phase 3
Sulfamethoxazole Approved Phase 2 723-46-6 5329
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
Metformin Approved Phase 2 657-24-9 4091 14219
Idebenone Approved, Investigational Phase 2 58186-27-9
Icatibant Approved, Investigational Phase 2 138614-30-9, 130308-48-4 71364
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
alemtuzumab Approved, Investigational Phase 2 216503-57-0
rituximab Approved Phase 2 174722-31-7 10201696
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
Busulfan Approved, Investigational Phase 2 55-98-1 2478
tannic acid Approved Phase 1, Phase 2 1401-55-4
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
Bradykinin Investigational Phase 2 58-82-2 439201
35 Tocotrienol Investigational Phase 2 6829-55-6
36 Anti-Infective Agents Phase 2
37 Hypoglycemic Agents Phase 2
38 Analgesics Phase 2
39 Analgesics, Non-Narcotic Phase 2
40 Peripheral Nervous System Agents Phase 2
41 Analgesics, Opioid Phase 2
42 Antipsychotic Agents Phase 2
43 Anti-Inflammatory Agents, Non-Steroidal Phase 2
44 Anti-Inflammatory Agents Phase 2
45 Antirheumatic Agents Phase 2
46 arginine Phase 2
47 Complement System Proteins Phase 2
48 Kininogens Phase 2
49 Complement Inactivating Agents Phase 2
50 Bradykinin Receptor Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 128)
# Name Status NCT ID Phase Drugs
1 Metabolic and Immune Responses to TIV in Patients With Mitochondrial Disease Completed NCT01831934 Phase 4
2 Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity Recruiting NCT03351998 Phase 4 Lipitor 20Mg Tablet;Lipitor 80Mg Tablet;Placebo Oral Tablet
3 Phase 3 Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3 CoenzymeQ10;Placebo
4 Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for More Than 6 Months and To 12 Months by LHON Due to the G11778A Mutation in the ND4 Gene Completed NCT02652780 Phase 3
5 A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects With Primary Mitochondrial Myopathy Followed by an Open-Label Treatment Extension Active, not recruiting NCT03323749 Phase 3
6 Efficacy and Safety of Bilateral Intravitreal Injection of GS010: A Randomized, Double-Masked, Placebo-Controlled Trial in Subjects Affected With G11778A ND4 Leber Hereditary Optic Neuropathy for Up to One Year Active, not recruiting NCT03293524 Phase 3 Placebo
7 A Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for 6 Months or Less by LHON Due to the G11778A Mutation in the Mitochondrial ND4 Gene Active, not recruiting NCT02652767 Phase 3
8 Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy Unknown status NCT00457314 Phase 2
9 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie) Unknown status NCT02640443 Phase 2 Sulfamethoxazole
10 Investigation of Clinical Syndromes Associated With mtDNA Point Mutations: MELAS/DCA Clinical Trial Unknown status NCT00068913 Phase 2 Dichloroacetate
11 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
12 A Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
13 A Phase 1/2 Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study Investigating the Safety, Tolerability, and Efficacy of Intravenous MTP-131 for the Treatment of Mitochondrial Myopathy in Subjects With Genetically Confirmed Mitochondrial Disease Completed NCT02367014 Phase 1, Phase 2 MTP-131;MTP-131;MTP-131;Placebo
14 Fatty Acid Oxidation and Body Weight Regulation in Long-chain Fatty Acid Oxidation Disorders. Completed NCT01494051 Phase 1, Phase 2
15 A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Mitochondrial Myopathy (MOTOR) Completed NCT02255422 Phase 2 Omaveloxolone capsules, 2.5 mg;omaveloxolone capsules, 5 mg;omaveloxolone capsules, 10 mg;Placebo capsules;omaveloxolone capsules, 20 mg;omaveloxolone capsules, TBD mg;omaveloxolone capsules, 40 mg;omaveloxolone capsules, 80 mg;omaveloxolone capsules, 160 mg
16 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover Study to Evaluate the Safety, Tolerability, and Efficacy of Subcutaneous Injections of Elamipretide (MTP-131) in Subjects With Genetically Confirmed Mitochondrial Disease Previously Treated in the Stealth BioTherapeutics SPIMM-201 Study Completed NCT02805790 Phase 2 Elamipretide;Placebo
17 An Open-Label, Dose-Escalating Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
18 Heart Rate Variability in Response to Metformin Challenge Completed NCT02500628 Phase 2 Metformin
19 A Phase IIa Double-Blind, Randomized, Placebo-Controlled, Dose-Finding Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
20 A Phase 2B Randomized, Placebo Controlled, Double Blind Clinical Trial of EPI-743 in Children With Leigh Syndrome Completed NCT01721733 Phase 2 Placebo;EPI-743 15 mg/kg;EPI-743 5 mg/kg
21 Ubiquinol in Parkinson's Disease: Safety, Tolerability, and Effects Upon Oxidative Damage and Mitochondrial Biomarkers Completed NCT03061513 Phase 2 Ubiquinol
22 Mitochondrial Dysfunction in Chronic Kidney Disease Completed NCT03177798 Phase 2 Icatibant;Placebo
23 Pilot Study to Investigate the Efficacy of L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome. Completed NCT01603446 Phase 2 L-Arginine
24 Evaluation of the Effect of Bezafibrate on Muscle Metabolism During Exercise in Patients With CPTII and VLCAD Deficiency Completed NCT00983788 Phase 2 Bezafibrate
25 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
26 Exploratory Study of Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome Recruiting NCT03789175 Phase 1, Phase 2
27 A Multicenter, Open-Label Phase 2 Extension Trial to Characterize the Long-term Safety and Tolerability of Subcutaneous Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM) Active, not recruiting NCT02976038 Phase 2 elamipretide
28 Therapeutic Trial of EPI -743 In Patients With Disorders of Energy Utilization or Oxidation-Reduction Active, not recruiting NCT01642056 Phase 1, Phase 2 EPI-743;Placebo
29 Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care Active, not recruiting NCT01370447 Phase 2 EPI-743
30 EPI743-13-023: Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome Active, not recruiting NCT02352896 Phase 2 EPI-743
31 A Phase I/II, Open Label, Single Dose Clinical Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD (Autologous cd34+ Cells Enriched With Blood Derived Mitochondria) in Pediatric Patients With Pearson Syndrome Enrolling by invitation NCT03384420 Phase 1, Phase 2
32 The Safety, Tolerability, Pharmacodynamics, and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase (EE-TP) in Patients With MNGIE Not yet recruiting NCT03866954 Phase 2
33 Effect of a Wide Spectrum Nutritional Supplement on Mitochondrial Function in Children With Autism Spectrum Disorder (ASD) Not yet recruiting NCT03835117 Phase 2 Wide-spectrum nutritional supplement
34 An Open-Label Phase 2 Safety and Efficacy Study of EPI-743 (VincerinoneTM) in Children With Pearson Syndrome Terminated NCT02104336 Phase 2 EPI-743
35 A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
36 An Exploratory Open-Label Phase 2 Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
37 Chronic Fatigue Syndrome: Correction of Mitochondrial Dysfunction by Conditioning Exercise and Nutraceutical Therapy. Withdrawn NCT01471652 Phase 2 Nutraceutical supplements;Placebo
38 Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)? Unknown status NCT02348125 Phase 1 Mitochondrial Cocktail
39 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
40 A Dose Block-randomized, Double-blind, Placebo-controlled, Single-dose, Dose-escalation, Phase I Clinical Study Completed NCT03056209 Phase 1 KL1333 25 mg;KL1333 50 mg;KL1333 100 mg;KL1333 200 mg;KL1333 400 mg;KL1333 600 mg;KL1333 800 mg;Placebo
41 Safety & Efficacy of Investigational Products: Ornithine Alpha-ketoglutarate, Glutamine, or Disodium Citrate on Hyperammonemia in Propionic Acidemia. Completed NCT00645879 Phase 1 ornithine alpha ketoglutarate;glutamine;disodium citrate
42 A Phase I, Open-Label, Two Centre Study to Evaluate Dichloroacetate(DCA) in Advanced Pulmonary Arterial Hypertension. Completed NCT01083524 Phase 1 Dichloroacetate Sodium;Dichloroacetate Sodium;Dichloroacetate Sodium
43 Open-Trial of EPI-743 for Adults With Tourette Syndrome Completed NCT01719523 Phase 1 EPI-743
44 A Phase Ia/Ib, Multiple-site Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of KL1333 After a Single and Multiple Ascending Oral Doses in Healthy Subjects and Patients With Primary Mitochondrial Disease Recruiting NCT03888716 Phase 1 KL1333;Placebo Oral Tablet
45 An Open-label Study to Evaluate the Safety and Tolerability of 12 Weeks Treatment With Oral REN001 in Patients With Primary Mitochondrial Myopathy (PMM), With an Optional Extension of Treatment Recruiting NCT03862846 Phase 1 REN001
46 Phase-1, Dose Finding and Safety Study on L- Citrulline Treatment of Nitric Oxide Deficiency in MELAS Not yet recruiting NCT03952234 Phase 1 L-Citrulline
47 An Open-Label Dose-Escalation Phase I Study to Asses the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RG2133 (2',3',5'-Tri-O-Acetyluridine) in the Treatment of Inherited Mitochondrial Diseases Terminated NCT00060515 Phase 1 RG2133 (2',3',5'-tri-O-acetyluridine)
48 Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability. Unknown status NCT00831948
49 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
50 Biomarkers in Exhaled Breath Condensates of Septic Patients to Predict Development of Multi-organ Dysfunction Syndrome Unknown status NCT01503684

Search NIH Clinical Center for Mitochondrial Disorders

Genetic Tests for Mitochondrial Disorders

Genetic tests related to Mitochondrial Disorders:

# Genetic test Affiliating Genes
1 Mitochondrial Diseases 29

Anatomical Context for Mitochondrial Disorders

MalaCards organs/tissues related to Mitochondrial Disorders:

Brain, Skeletal Muscle, Liver, Heart, Testes, Skin, Kidney

Publications for Mitochondrial Disorders

Articles related to Mitochondrial Disorders:

(show top 50) (show all 3204)
# Title Authors PMID Year
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 38 4
25058219 2014
Targeted exome sequencing of suspected mitochondrial disorders. 38 4
23596069 2013
PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. 38 4
22456975 2012
Monogenic mitochondrial disorders. 38 4
22435372 2012
Treatment for mitochondrial disorders. 38 4
16437486 2006
Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. 38 4
16091512 2005
Prevalence and progression of mitochondrial diseases: a study of 50 patients. 38 4
14639582 2003
Clinical spectrum and diagnosis of mitochondrial disorders. 38 4
11579420 2001
Epidemiology and treatment of mitochondrial disorders. 38 4
11579428 2001
Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. 38 4
11579429 2001
74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands. 38 4
10899455 2000
Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. 38 4
10675086 2000
Mitochondrial diseases in man and mouse. 38 4
10066162 1999
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. 38 4
9683591 1998
Molecular genetic aspects of human mitochondrial disorders. 38 4
8825472 1995
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. 38 4
8513395 1993
Pharmacotherapeutic management of epilepsy in MERRF syndrome. 17
31063406 2019
Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient: Case report. 17
31083203 2019
Transcription, Processing, and Decay of Mitochondrial RNA in Health and Disease. 17
31064115 2019
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. 4
24963768 2016
Mitochondrial dysfunction in central nervous system white matter disorders. 4
24865954 2014
Diagnostic clinical genome and exome sequencing. 4
24941179 2014
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. 4
24199812 2013
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. 4
23355809 2013
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. 4
20393463 2010
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 4
19136963 2009
Protean phenotypic features of the A3243G mitochondrial DNA mutation. 4
19139304 2009
Resistance training in patients with single, large-scale deletions of mitochondrial DNA. 4
18984605 2008
Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. 4
17085458 2006
Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. 4
15883260 2005
Risk of developing a mitochondrial DNA deletion disorder. 4
15313359 2004
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. 4
15210538 2004
Minimum birth prevalence of mitochondrial respiratory chain disorders in children. 4
12805096 2003
Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. 4
11506394 2001
The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. 4
11261513 2001
Mitochondrial DNA mutations in human disease. 4
11579421 2001
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? 4
11169561 2001
The epidemiology of pathogenic mitochondrial DNA mutations. 4
10939569 2000
Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. 4
10665569 2000
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation. 4
10604142 1999
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. 4
10417290 1999
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. 4
9798744 1998
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 4
9635427 1998
Localization of the Wilson's disease protein product to mitochondria. 4
9600907 1998
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. 4
9326946 1997
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. 4
9221962 1997
Mitochondrial DNA mutations and pathogenesis. 4
9239539 1997
A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. 4
7695240 1995
Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. 4
8351017 1993
Maternally inherited Leigh syndrome. 4
8095070 1993

Variations for Mitochondrial Disorders

ClinVar genetic disease variations for Mitochondrial Disorders:

6 (show top 50) (show all 98)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TWNK NM_021830.5(TWNK): c.1374G> T (p.Gln458His) single nucleotide variant Pathogenic rs1554887213 10:102749531-102749531 10:100989774-100989774
2 TWNK NM_021830.5(TWNK): c.1391T> C (p.Leu464Pro) single nucleotide variant Pathogenic rs1554887222 10:102749548-102749548 10:100989791-100989791
3 YARS2 NM_001040436.3(YARS2): c.1147_1164dup (p.Val383_Glu388dup) duplication Pathogenic rs775256289 12:32902981-32902998 12:32750047-32750064
4 YARS2 NM_001040436.3(YARS2): c.1106G> A (p.Cys369Tyr) single nucleotide variant Pathogenic rs1365700579 12:32903039-32903039 12:32750105-32750105
5 POLG NM_002693.2(POLG): c.3550G> A (p.Asp1184Asn) single nucleotide variant Pathogenic rs1131691575 15:89860700-89860700 15:89317469-89317469
6 GFER NM_005262.3(GFER): c.586C> T (p.Arg196Cys) single nucleotide variant Pathogenic rs370475970 16:2035997-2035997 16:1985996-1985996
7 MT-TL2 NC_012920.1: m.12283G> A single nucleotide variant Pathogenic rs1131692062 MT:12283-12283 MT:12283-12283
8 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1: m.10106_15067del4962 deletion Pathogenic MT:10106-15067 MT:10106-15067
9 MT-CYB ; MT-ND4 ; MT-ND5 ; MT-ND6 ; MT-TE ; MT-TH ; MT-TL2 ; MT-TS2 NC_012920.1: m.11263_15374del4112 deletion Pathogenic MT:11263-15374 MT:11263-15374
10 MT-ND4 ; MT-ND5 ; MT-ND6 ; MT-TH ; MT-TL2 ; MT-TS2 NC_012920.1: m.12114_14420del2307 deletion Pathogenic MT:12114-14420 MT:12114-14420
11 MT-TL2 NC_012920.1: m.12271T> C single nucleotide variant Pathogenic rs1131692061 MT:12271-12271 MT:12271-12271
12 MT-ND5 NC_012920.1: m.13051G> A single nucleotide variant Pathogenic rs1131692063 MT:13051-13051 MT:13051-13051
13 covers 13 genes, none of which curated to show dosage sensitivity NC_012920.1: m.6003_11220del5218 deletion Pathogenic MT:6003-11220 MT:6003-11220
14 covers 20 genes, none of which curated to show dosage sensitivity NC_012920.1: m.6469_15587del9119 deletion Pathogenic MT:6469-15587 MT:6469-15587
15 covers 17 genes, none of which curated to show dosage sensitivity NC_012920.1: m.7129_13991del6863 deletion Pathogenic MT:7129-13991 MT:7129-13991
16 MT-ATP6 ; MT-ATP8 ; MT-CO2 ; MT-CO3 ; MT-ND3 ; MT-ND4 ; MT-ND4L ; MT-TG ; MT-TK ; MT-TR NC_012920.1: m.7730_11255del3526 deletion Pathogenic MT:7730-11255 MT:7730-11255
17 MT-CO2 NC_012920.1: m.7989T> C single nucleotide variant Pathogenic rs1131692064 MT:7989-7989 MT:7989-7989
18 covers 13 genes, none of which curated to show dosage sensitivity NC_012920.1: m.8290_13040del4751 deletion Pathogenic MT:8290-13040 MT:8290-13040
19 covers 12 genes, none of which curated to show dosage sensitivity NC_012920.1: m.8483_13459del4977 deletion Pathogenic MT:8483-13459 MT:8483-13459
20 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1: m.8587_12967del4381 deletion Pathogenic MT:8587-12967 MT:8587-12967
21 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1: m.8815_13722del4908 deletion Pathogenic MT:8815-13722 MT:8815-13722
22 covers 14 genes, none of which curated to show dosage sensitivity NC_012920.1: m.8839_14895del6057 deletion Pathogenic MT:8839-14895 MT:8839-14895
23 GFM2 NM_032380.5(GFM2): c.636del (p.Glu213fs) deletion Pathogenic rs746538436 5:74041963-74041963 5:74746138-74746138
24 GFM2 NM_032380.5(GFM2): c.275A> C (p.Tyr92Ser) single nucleotide variant Pathogenic rs1554042187 5:74054703-74054703 5:74758878-74758878
25 TOP3A NM_004618.5(TOP3A): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs200944917 17:18208522-18208522 17:18305208-18305208
26 TOP3A NM_004618.5(TOP3A): c.298A> G (p.Met100Val) single nucleotide variant Pathogenic rs376902371 17:18211681-18211681 17:18308367-18308367
27 NDUFA6 NM_002490.6(NDUFA6): c.331_332del (p.Glu111fs) deletion Pathogenic 22:42482242-42482243 22:42086238-42086239
28 NDUFA6 NM_002490.6(NDUFA6): c.265G> T (p.Glu89Ter) single nucleotide variant Pathogenic 22:42482309-42482309 22:42086305-42086305
29 NDUFA6 NM_002490.6(NDUFA6): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic 22:42483128-42483128 22:42087124-42087124
30 NDUFA6 NM_002490.6(NDUFA6): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic 22:42486746-42486746 22:42090742-42090742
31 ATP5F1D NM_001687.5(ATP5F1D): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs1555745989 19:1244117-1244117 19:1244118-1244118
32 NDUFA6 NM_002490.6(NDUFA6): c.355del (p.Leu119fs) deletion Pathogenic 22:42482219-42482219 22:42086215-42086215
33 NDUFA6 NM_002490.6(NDUFA6): c.309del (p.Met104fs) deletion Pathogenic 22:42482265-42482265 22:42086261-42086261
34 OXA1L NM_005015.5(OXA1L): c.320_327dup (p.Ser110fs) duplication Pathogenic 14:23237261-23237268 14:22768052-22768059
35 OXA1L NM_005015.5(OXA1L): c.440G> T (p.Cys147Phe) single nucleotide variant Pathogenic 14:23239000-23239000 14:22769791-22769791
36 TWNK NM_021830.5(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 10:102749042-102749042 10:100989285-100989285
37 TWNK NM_021830.5(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 10:102749109-102749109 10:100989352-100989352
38 TWNK NM_021830.5(TWNK): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs28937887 10:102748968-102748968 10:100989211-100989211
39 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 3:193384959-193384962 3:193667170-193667173
40 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 3:193361785-193361785 3:193643996-193643996
41 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 MT:3243-3243 MT:3243-3243
42 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 MT:14709-14709 MT:14709-14709
43 MT-TE m.14674T> C single nucleotide variant Pathogenic rs387906421 MT:14674-14674 MT:14674-14674
44 MT-ATP6 NC_012920.1: m.8993T> G single nucleotide variant Pathogenic rs199476133 MT:8993-8993 MT:8993-8993
45 MT-ATP6 NC_012920.1: m.8993T> C single nucleotide variant Pathogenic rs199476133 MT:8993-8993 MT:8993-8993
46 MT-ATP6 NC_012920.1: m.9185T> C single nucleotide variant Pathogenic rs199476138 MT:9185-9185 MT:9185-9185
47 MT-ND5 m.13513G> A single nucleotide variant Pathogenic rs267606897 MT:13513-13513 MT:13513-13513
48 POLG NM_002693.2(POLG): c.2864A> G (p.Tyr955Cys) single nucleotide variant Pathogenic rs113994099 15:89864114-89864114 15:89320883-89320883
49 OPA1 NM_015560.2(OPA1): c.1198C> T (p.Pro400Ser) single nucleotide variant Pathogenic rs1553877864 3:193361219-193361219 3:193643430-193643430
50 TWNK NM_021830.5(TWNK): c.1052A> G (p.Asn351Ser) single nucleotide variant Pathogenic rs370231886 10:102749019-102749019 10:100989262-100989262

Expression for Mitochondrial Disorders

Search GEO for disease gene expression data for Mitochondrial Disorders.

Pathways for Mitochondrial Disorders

GO Terms for Mitochondrial Disorders

Cellular components related to Mitochondrial Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.67 TWNK OXA1L GFM2 ATP5F1D
2 mitochondrial inner membrane GO:0005743 9.65 TMEM126B SPG7 SLC25A4 OXA1L OPA1 NDUFA6
3 mitochondrion GO:0005739 9.47 TWNK TMEM126B SPG7 SLC25A4 RRM2B RMND1
4 mitochondrial membrane GO:0031966 9.46 TMEM126B OXA1L OPA1 NDUFA6
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.32 MT-ATP6 ATP5F1D
6 integral component of mitochondrial membrane GO:0032592 9.26 SLC25A4 OXA1L

Biological processes related to Mitochondrial Disorders according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.89 RRM2B OXA1L MT-ND5 MT-CO2 GFER
2 mitochondrion organization GO:0007005 9.58 TWNK SPG7 OPA1
3 cristae formation GO:0042407 9.52 MT-ATP6 ATP5F1D
4 ATP biosynthetic process GO:0006754 9.51 MT-ATP6 ATP5F1D
5 cellular response to glucose stimulus GO:0071333 9.5 TWNK POLG OPA1
6 ATP synthesis coupled proton transport GO:0015986 9.48 MT-ATP6 ATP5F1D
7 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.46 MT-ATP6 ATP5F1D
8 DNA replication GO:0006260 9.46 TWNK TOP3A RRM2B POLG
9 response to hyperoxia GO:0055093 9.43 POLG MT-ATP6
10 mitochondrial genome maintenance GO:0000002 9.37 SLC25A4 OPA1
11 ATP synthesis coupled electron transport GO:0042773 9.26 MT-ND5 MT-CO2
12 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 TMEM126B OXA1L NDUFA6 MT-ND5
13 mitochondrial DNA replication GO:0006264 8.8 TWNK RRM2B POLG

Molecular functions related to Mitochondrial Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 8.8 SLC25A4 MT-ATP6 ATP5F1D

Sources for Mitochondrial Disorders

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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