MCID: MTC069
MIFTS: 56

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 54 6 42 71
Mitochondrial Myopathies 24 53 54 71
Mitochondrial Encephalomyopathies 24 54 71
Mitochondrial Disease 58 36
Mitochondrial Respiratory Chain Deficiencies 71
Oxidative Phosphorylation Disorders 24
Respiratory Chain Deficiency 54
Respiratory Chain Disorders 24
Mitochondrial Disorder 39

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

KEGG 36 H01427
MESH via Orphanet 44 D028361
UMLS via Orphanet 72 C0751651
Orphanet 58 ORPHA68380
UMLS 71 C0162666 C0162670 C0751651 more

Summaries for Mitochondrial Disorders

MedlinePlus : 42 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 myopathy, lactic acidosis, and sideroblastic anemia 1 and diabetes and deafness, maternally inherited, 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 Parkinson disease and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Atorvastatin and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and liver.

KEGG : 36 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 : 74 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:

Isca2-Related Mitochondrial Disorder Rrm2b-Related Mitochondrial Disease
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 920)
# Related Disease Score Top Affiliating Genes
1 myopathy, lactic acidosis, and sideroblastic anemia 1 34.4 MT-TK MT-ATP6
2 diabetes and deafness, maternally inherited 32.5 MT-TL1 MT-TK MT-TE
3 mitochondrial complex i deficiency, nuclear type 1 32.5 TMEM126B POLG NDUFA6 MT-ND6 MT-ND1 MT-ATP6
4 mitochondrial dna depletion syndrome 32.3 TWNK SLC25A4 POLG OPA1 MT-TK
5 neuropathy, ataxia, and retinitis pigmentosa 32.2 TWNK POLG MT-TK MT-ND6 MT-ATP6
6 mitochondrial dna depletion syndrome 7 32.1 TWNK SLC25A4 POLG
7 mitochondrial myopathy, infantile, transient 31.9 MT-TE MT-ND5 MT-ND1 MT-ATP6
8 3-methylglutaconic aciduria, type iii 31.9 TWNK SLC25A4 POLG OPA1 MT-TK MT-ND6
9 leber optic atrophy and dystonia 31.9 MT-ND6 MT-ND1
10 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 31.7 MT-TK MT-ATP6
11 myoclonic epilepsy associated with ragged-red fibers 31.1 TWNK POLG MT-TP MT-TL1 MT-TK MT-TF
12 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 30.9 TWNK SLC25A4 POLG
13 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 30.9 TWNK SLC25A4 POLG
14 hereditary optic neuropathy 30.8 MT-ND6 MT-ND5 MT-ND1 MT-ATP6
15 polg-related disorders 30.7 TWNK POLG
16 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.7 TWNK TMEM126B POLG MT-TP MT-TL1 MT-TK
17 mitochondrial dna depletion syndrome 4b 30.6 TWNK SLC25A4 POLG
18 hypertrophic cardiomyopathy 30.5 SLC25A4 OPA1 MT-TL1 MT-ND1 MT-CO2 MT-ATP6
19 parkinson disease, mitochondrial 30.5 MT-TP MT-TK
20 ataxia neuropathy spectrum 30.4 TWNK POLG
21 neuropathy 30.4 TWNK POLG OPA1 MT-ND6 MT-ND5 MT-ND1
22 mitochondrial dna depletion syndrome 4a 30.3 TWNK POLG MT-TK
23 ptosis 30.3 TWNK TOP3A SLC25A4 POLG OPA1 MT-TK
24 early myoclonic encephalopathy 30.3 POLG MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ATP6
25 mitochondrial dna depletion syndrome 1 30.3 POLG MT-TK
26 peripheral nervous system disease 30.3 TWNK POLG OPA1 MT-TK MT-ND6 MT-ND1
27 chronic progressive external ophthalmoplegia 30.2 TWNK SLC25A4 POLG MT-TL1 MT-TK MT-ND6
28 polyneuropathy 30.2 TWNK POLG MT-ATP6
29 sensorineural hearing loss 30.2 OPA1 MT-TL1 MT-ND6 MT-ATP6 GFER
30 3-methylglutaconic aciduria 30.2 POLG MT-TL1 ATP5F1D
31 optic nerve disease 30.2 TWNK POLG OPA1 MT-TK MT-ND6 MT-ND5
32 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 30.1 TWNK SLC25A4 POLG MT-TK
33 autosomal dominant progressive external ophthalmoplegia 30.1 TWNK SLC25A4 POLG OPA1
34 kearns-sayre syndrome 30.0 TWNK SLC25A4 POLG MT-TL1 MT-TK MT-ND6
35 retinitis pigmentosa 30.0 POLG OPA1 MT-TL1 MT-TK MT-ND1 MT-CO2
36 mitochondrial dna depletion syndrome 3 30.0 TWNK POLG
37 axonal neuropathy 30.0 TWNK SLC25A4 POLG
38 cortical blindness 29.9 POLG MT-ND6 MT-ND5 MT-ND1
39 deafness, aminoglycoside-induced 29.9 MT-TK MT-ND6 GFM2
40 lactic acidosis 29.9 POLG MT-TL1 MT-TK MT-TF MT-TE MT-ND6
41 pearson marrow-pancreas syndrome 29.9 TWNK POLG MT-TL1 MT-TK MT-ND6 MT-CO2
42 mitochondrial encephalomyopathy 29.8 TWNK POLG OPA1 MT-TL1 MT-TK MT-ND6
43 leigh syndrome 29.5 TWNK TMEM126B POLG NDUFA6 MT-TL1 MT-TK
44 leber optic atrophy 28.7 TWNK TMEM126B SLC25A4 POLG OPA1 MT-TL1
45 myopathy 28.7 TWNK TOP3A SLC25A4 POLG MT-TP MT-TL1
46 mitochondrial myopathy 28.7 TWNK TOP3A SLC25A4 POLG MT-TL1 MT-TK
47 mitochondrial metabolism disease 27.9 TWNK TOP3A TMEM126B SLC25A4 POLG OPA1
48 mitochondrial myopathy with lactic acidosis 12.8
49 mitochondrial myopathy with diabetes 12.7
50 mitochondrial myopathy, lethal, infantile 12.5

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 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 4 134523-00-5 60823
2 Vaccines Phase 4
3 Immunologic Factors Phase 4
4 Lipid Regulating Agents Phase 4
5 Hypolipidemic Agents Phase 4
6 Antimetabolites Phase 4
7 Insulin, Globin Zinc Phase 4
8 insulin Phase 4
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
10 Anticholesteremic Agents Phase 4
11 Anti-Infective Agents, Local Phase 3
12 Anesthetics Phase 3
13 Pharmaceutical Solutions Phase 3
14 Hypoglycemic Agents Phase 3
15
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
16
Metformin Approved Phase 2 657-24-9 14219 4091
17
Icatibant Approved, Investigational Phase 2 138614-30-9, 130308-48-4 71364
18
tannic acid Approved Phase 1, Phase 2 1401-55-4
19
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
20
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
21
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
23
Bradykinin Investigational Phase 2 58-82-2 439201
24 Tocotrienol Investigational Phase 2 6829-55-6
25 Analgesics, Non-Narcotic Phase 2
26 Analgesics Phase 2
27 Analgesics, Opioid Phase 2
28 Antipsychotic Agents Phase 2
29 Anti-Inflammatory Agents Phase 2
30 Antirheumatic Agents Phase 2
31 Anti-Inflammatory Agents, Non-Steroidal Phase 2
32 Kininogens Phase 2
33 Complement System Proteins Phase 2
34 Immunosuppressive Agents Phase 2
35 Bradykinin Receptor Antagonists Phase 2
36 Tocotrienol, alpha Phase 2
37 Tocopherols Phase 2
38 Tocotrienols Phase 2
39
Phosphocreatine Nutraceutical Phase 1, Phase 2 67-07-2 587
40
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
41
Sodium citrate Approved, Investigational Phase 1 68-04-2
42
Nitric Oxide Approved Phase 1 10102-43-9 145068
43
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
44
Ornithine Approved, Nutraceutical Phase 1 70-26-8, 3184-13-2 6262
45
Glutamic acid Approved, Nutraceutical Phase 1 56-86-0 33032
46 Calcium, Dietary Phase 1
47 Citrate Phase 1
48 Chelating Agents Phase 1
49 glutamine Phase 1
50 Anticoagulants Phase 1

Interventional clinical trials:

(show top 50) (show all 125)
# 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 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 Completed NCT02652767 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 The Synergistic Effect of Hypoglycemic Index Diet on Refractory Schizophrenia Enrolling by invitation NCT04302636 Phase 3
8 Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy Not yet recruiting NCT04378075 Phase 2, Phase 3 Vatiquinone
9 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 Terminated NCT03323749 Phase 3
10 Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy Unknown status NCT00457314 Phase 2
11 Investigation of Clinical Syndromes Associated With mtDNA Point Mutations: MELAS/DCA Clinical Trial Unknown status NCT00068913 Phase 2 Dichloroacetate
12 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
13 A Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
14 Phase 1/2 Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study for the Safety, Tolerability, and Efficacy of IV MTP-131 for Mitochondrial Myopathy in Genetically Confirmed Mitochondrial Disease Completed NCT02367014 Phase 1, Phase 2 elamipretide (low dose);elamipretide (intermediate dose);elamipretide (high dose);Placebo
15 Therapeutic Trial of EPI -743 In Patients With Disorders of Energy Utilization or Oxidation-Reduction Completed NCT01642056 Phase 1, Phase 2 EPI-743;Placebo
16 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
17 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
18 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
19 Heart Rate Variability in Response to Metformin Challenge Completed NCT02500628 Phase 2 Metformin
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 Exploratory Study of Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome Completed NCT03789175 Phase 1, Phase 2
25 A Phase IIb Double-blind, Randomised, Placebo-controlled, Multi-centre, Confirmative Three-way Cross-over Study on Cognitive Function With Two Doses of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation. Recruiting NCT04165239 Phase 2 KH176;KH176;Placebo
26 Effect of a Wide Spectrum Nutritional Supplement on Mitochondrial Function in Children With Autism Spectrum Disorder (ASD) Recruiting NCT03835117 Phase 2 Wide-spectrum nutritional supplement
27 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
28 Long-Term Safety and Efficacy Evaluation of Vatiquinone (EPI-743) in Children With Leigh Syndrome Active, not recruiting NCT02352896 Phase 2 EPI-743
29 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
30 The Safety, Tolerability, Pharmacodynamics, and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase (EE-TP) in Patients With MNGIE Not yet recruiting NCT03866954 Phase 2
31 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) Terminated NCT02976038 Phase 2 elamipretide
32 An Open-Label Phase 2 Safety and Efficacy Study of EPI-743 (VincerinoneTM) in Children With Pearson Syndrome Terminated NCT02104336 Phase 2 EPI-743
33 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
34 An Exploratory Open-Label Phase 2 Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
35 Chronic Fatigue Syndrome: Correction of Mitochondrial Dysfunction by Conditioning Exercise and Nutraceutical Therapy. Withdrawn NCT01471652 Phase 2 Nutraceutical supplements;Placebo
36 Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)? Unknown status NCT02348125 Phase 1 Mitochondrial Cocktail
37 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
38 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
39 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
40 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
41 Open-Trial of EPI-743 for Adults With Tourette Syndrome Completed NCT01719523 Phase 1 EPI-743
42 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
43 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 Active, not recruiting NCT03862846 Phase 1 REN001
44 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
45 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)
46 Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies Unknown status NCT03513835
47 Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability. Unknown status NCT00831948
48 Biomarkers in Exhaled Breath Condensates of Septic Patients to Predict Development of Multi-organ Dysfunction Syndrome Unknown status NCT01503684
49 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
50 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy Completed NCT01301235

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:

40
Brain, Skeletal Muscle, Liver, Heart, Testes, Skin, Kidney

Publications for Mitochondrial Disorders

Articles related to Mitochondrial Disorders:

(show top 50) (show all 3398)
# Title Authors PMID Year
1
Therapeutic management of stroke-like episodes varies from that of encephalitis. 42 61
32080090 2020
2
Construct Validity of the Observable Movement Quality Scale in Pediatrics: Hypothesis Testing of a Formative Measurement Model. 61 42
32031656 2020
3
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 24 61
25058219 2014
4
Targeted exome sequencing of suspected mitochondrial disorders. 24 61
23596069 2013
5
PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. 24 61
22456975 2012
6
Monogenic mitochondrial disorders. 24 61
22435372 2012
7
Treatment for mitochondrial disorders. 61 24
16437486 2006
8
Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. 61 24
16091512 2005
9
Prevalence and progression of mitochondrial diseases: a study of 50 patients. 61 24
14639582 2003
10
Clinical spectrum and diagnosis of mitochondrial disorders. 61 24
11579420 2001
11
Epidemiology and treatment of mitochondrial disorders. 24 61
11579428 2001
12
Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. 61 24
11579429 2001
13
74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands. 24 61
10899455 2000
14
Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. 24 61
10675086 2000
15
Mitochondrial diseases in man and mouse. 24 61
10066162 1999
16
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. 61 24
9683591 1998
17
Molecular genetic aspects of human mitochondrial disorders. 61 24
8825472 1995
18
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. 61 24
8513395 1993
19
Mitochondrial Replacement in the Clinic. 42
32374967 2020
20
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. 24
24963768 2016
21
Mitochondrial dysfunction in central nervous system white matter disorders. 24
24865954 2014
22
Diagnostic clinical genome and exome sequencing. 24
24941179 2014
23
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. 24
24199812 2013
24
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. 24
23355809 2013
25
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. 24
20393463 2010
26
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 24
19136963 2009
27
Protean phenotypic features of the A3243G mitochondrial DNA mutation. 24
19139304 2009
28
Resistance training in patients with single, large-scale deletions of mitochondrial DNA. 24
18984605 2008
29
Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. 24
17085458 2006
30
Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. 24
15883260 2005
31
Risk of developing a mitochondrial DNA deletion disorder. 24
15313359 2004
32
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. 24
15210538 2004
33
Minimum birth prevalence of mitochondrial respiratory chain disorders in children. 24
12805096 2003
34
Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. 24
11506394 2001
35
The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. 24
11261513 2001
36
Mitochondrial DNA mutations in human disease. 24
11579421 2001
37
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? 24
11169561 2001
38
The epidemiology of pathogenic mitochondrial DNA mutations. 24
10939569 2000
39
Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. 24
10665569 2000
40
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation. 24
10604142 1999
41
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. 24
10417290 1999
42
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. 24
9798744 1998
43
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 24
9635427 1998
44
Localization of the Wilson's disease protein product to mitochondria. 24
9600907 1998
45
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. 24
9326946 1997
46
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. 24
9221962 1997
47
Mitochondrial DNA mutations and pathogenesis. 24
9239539 1997
48
A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. 24
7695240 1995
49
Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. 24
8351017 1993
50
Maternally inherited Leigh syndrome. 24
8095070 1993

Variations for Mitochondrial Disorders

ClinVar genetic disease variations for Mitochondrial Disorders:

6 (show top 50) (show all 113) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 covers 13 genes, none of which curated to show dosage sensitivity NC_012920.1:m.6003_11220del5218deletion Pathogenic 430674 MT:6003-11220 MT:6003-11220
2 covers 20 genes, none of which curated to show dosage sensitivity NC_012920.1:m.6469_15587del9119deletion Pathogenic 430675 MT:6469-15587 MT:6469-15587
3 covers 17 genes, none of which curated to show dosage sensitivity NC_012920.1:m.7129_13991del6863deletion Pathogenic 430676 MT:7129-13991 MT:7129-13991
4 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_11255del3526deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255
5 covers 14 genes, none of which curated to show dosage sensitivity NC_012920.1:m.8839_14895del6057deletion Pathogenic 430683 MT:8839-14895 MT:8839-14895
6 MT-CO2 NC_012920.1:m.7989T>CSNV Pathogenic 430690 rs1131692064 MT:7989-7989 MT:7989-7989
7 covers 13 genes, none of which curated to show dosage sensitivity NC_012920.1:m.8290_13040del4751deletion Pathogenic 430678 MT:8290-13040 MT:8290-13040
8 covers 12 genes, none of which curated to show dosage sensitivity NC_012920.1:m.8483_13459del4977deletion Pathogenic 430680 MT:8483-13459 MT:8483-13459
9 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1:m.8587_12967del4381deletion Pathogenic 430681 MT:8587-12967 MT:8587-12967
10 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1:m.8815_13722del4908deletion Pathogenic 430682 MT:8815-13722 MT:8815-13722
11 GFM2 NM_032380.5(GFM2):c.636del (p.Glu213fs)deletion Pathogenic 440787 rs746538436 5:74041963-74041963 5:74746138-74746138
12 GFM2 NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser)SNV Pathogenic 440788 rs1554042187 5:74054703-74054703 5:74758878-74758878
13 TOP3A NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter)SNV Pathogenic 446286 rs200944917 17:18208522-18208522 17:18305208-18305208
14 TOP3A NM_004618.5(TOP3A):c.298A>G (p.Met100Val)SNV Pathogenic 446285 rs376902371 17:18211681-18211681 17:18308367-18308367
15 NDUFA6 NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs)deletion Pathogenic 487475 rs1569463838 22:42482242-42482243 22:42086238-42086239
16 NDUFA6 NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter)SNV Pathogenic 487478 rs758833609 22:42482309-42482309 22:42086305-42086305
17 NDUFA6 NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro)SNV Pathogenic 487477 rs750830935 22:42483128-42483128 22:42087124-42087124
18 NDUFA6 NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile)SNV Pathogenic 487476 rs1023075742 22:42486746-42486746 22:42090742-42090742
19 ATP5F1D NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly)SNV Pathogenic 489386 rs1555745989 19:1244117-1244117 19:1244118-1244118
20 TWNK NM_021830.5(TWNK):c.1374G>T (p.Gln458His)SNV Pathogenic 426104 rs1554887213 10:102749531-102749531 10:100989774-100989774
21 TWNK NM_021830.5(TWNK):c.1391T>C (p.Leu464Pro)SNV Pathogenic 426105 rs1554887222 10:102749548-102749548 10:100989791-100989791
22 YARS2 NM_001040436.3(YARS2):c.1147_1164dup (p.Val383_Glu388dup)duplication Pathogenic 426099 rs775256289 12:32902980-32902981 12:32750046-32750047
23 YARS2 NM_001040436.3(YARS2):c.1106G>A (p.Cys369Tyr)SNV Pathogenic 426098 rs1365700579 12:32903039-32903039 12:32750105-32750105
24 POLG NM_002693.2(POLG):c.3550G>A (p.Asp1184Asn)SNV Pathogenic 426100 rs1131691575 15:89860700-89860700 15:89317469-89317469
25 GFER NM_005262.3(GFER):c.586C>T (p.Arg196Cys)SNV Pathogenic 426097 rs370475970 16:2035997-2035997 16:1985996-1985996
26 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1:m.10106_15067del4962deletion Pathogenic 430684 MT:10106-15067 MT:10106-15067
27 MT-CYB , MT-ND4 , MT-ND5 , MT-ND6 , MT-TE , MT-TH , MT-TL2 , MT-TS2 NC_012920.1:m.11263_15374del4112deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374
28 MT-ND4 , MT-ND5 , MT-ND6 , MT-TH , MT-TL2 , MT-TS2 NC_012920.1:m.12114_14420del2307deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420
29 MT-TL2 NC_012920.1:m.12271T>CSNV Pathogenic 430687 rs1131692061 MT:12271-12271 MT:12271-12271
30 MT-TL2 NC_012920.1:m.12283G>ASNV Pathogenic 430688 rs1131692062 MT:12283-12283 MT:12283-12283
31 NDUFA6 NM_002490.6(NDUFA6):c.355del (p.Leu119fs)deletion Pathogenic 549666 rs781099275 22:42482219-42482219 22:42086215-42086215
32 NDUFA6 NM_002490.6(NDUFA6):c.309del (p.Met104fs)deletion Pathogenic 549665 rs763006208 22:42482265-42482265 22:42086261-42086261
33 OXA1L NM_005015.5(OXA1L):c.320_327dup (p.Ser110fs)duplication Pathogenic 560159 rs1566433812 14:23237259-23237260 14:22768050-22768051
34 OXA1L NM_005015.5(OXA1L):c.440G>T (p.Cys147Phe)SNV Pathogenic 560160 rs772751581 14:23239000-23239000 14:22769791-22769791
35 OPA1 NM_015560.2(OPA1):c.1198C>T (p.Pro400Ser)SNV Pathogenic 426101 rs1553877864 3:193361219-193361219 3:193643430-193643430
36 NDUFAF8 NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val)SNV Pathogenic 691643 17:79213164-79213164 17:81239364-81239364
37 NDUFAF8 NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs)duplication Pathogenic 691644 17:79213202-79213203 17:81239402-81239403
38 MT-ND6 NC_012920.1:m.14513_14514deldeletion Pathogenic 800503 MT:14512-14513 MT:14512-14513
39 MT-ND1 NC_012920.1:m.3761C>ASNV Pathogenic 800504 MT:3761-3761 MT:3761-3761
40 MT-TF NC_012920.1(MT-CYB):m.590A>GSNV Pathogenic 870573 MT:590-590 MT:590-590
41 MT-TP NC_012920.1:m.15958A>TSNV Pathogenic 870596 MT:15958-15958 MT:15958-15958
42 TWNK NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)SNV Pathogenic 4618 rs111033573 10:102749042-102749042 10:100989285-100989285
43 TWNK NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro)SNV Pathogenic 4622 rs111033577 10:102749109-102749109 10:100989352-100989352
44 TWNK NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)SNV Pathogenic 4623 rs28937887 10:102748968-102748968 10:100989211-100989211
45 OPA1 NM_015560.2(OPA1):c.2708_2711delTTAGdeletion Pathogenic 5082 rs80356530 3:193384957-193384960 3:193667168-193667171
46 OPA1 NM_015560.2(OPA1):c.1334G>A (p.Arg445His)SNV Pathogenic 5091 rs80356529 3:193361785-193361785 3:193643996-193643996
47 MT-TK m.8344A>GSNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344
48 MT-TL1 NC_012920.1:m.3243A>GSNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
49 MT-ATP6 NC_012920.1:m.8993T>GSNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993
50 MT-ATP6 NC_012920.1:m.8993T>CSNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993

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 9.71 TWNK TOP3A GFM2 ATP5F1D
2 mitochondrial membrane GO:0031966 9.65 TMEM126B OPA1 NDUFA6 MT-ND6 MT-ND1
3 mitochondrial inner membrane GO:0005743 9.65 TMEM126B SLC25A4 OPA1 NDUFA6 MT-ND6 MT-ND5
4 respiratory chain GO:0070469 9.55 NDUFA6 MT-ND6 MT-ND5 MT-ND1 MT-CO2
5 mitochondrial respiratory chain complex I GO:0005747 9.5 NDUFA6 MT-ND5 MT-ND1
6 mitochondrion GO:0005739 9.5 TWNK TOP3A TMEM126B SLC25A4 POLG OPA1
7 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.37 MT-ATP6 ATP5F1D

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.73 NDUFA6 MT-ND6 MT-ND5 MT-ND1 MT-CO2 GFER
2 DNA replication GO:0006260 9.69 TWNK TOP3A POLG
3 cellular response to glucose stimulus GO:0071333 9.5 TWNK POLG OPA1
4 ATP biosynthetic process GO:0006754 9.49 MT-ATP6 ATP5F1D
5 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.48 MT-ATP6 ATP5F1D
6 ATP synthesis coupled proton transport GO:0015986 9.46 MT-ATP6 ATP5F1D
7 response to hyperoxia GO:0055093 9.43 POLG MT-ATP6
8 mitochondrial genome maintenance GO:0000002 9.4 SLC25A4 OPA1
9 mitochondrial DNA replication GO:0006264 9.37 TWNK POLG
10 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.26 NDUFA6 MT-ND6 MT-ND5 MT-ND1
11 ATP synthesis coupled electron transport GO:0042773 9.16 MT-ND5 MT-CO2
12 mitochondrial respiratory chain complex I assembly GO:0032981 9.02 TMEM126B NDUFA6 MT-ND6 MT-ND5 MT-ND1

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

# Name GO ID Score Top Affiliating Genes
1 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 9.16 MT-ATP6 ATP5F1D
2 NADH dehydrogenase activity GO:0003954 8.96 MT-ND5 MT-ND1
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 NDUFA6 MT-ND6 MT-ND5 MT-ND1

Sources for Mitochondrial Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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