Mitochondrial Disorders

Categories: Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Disorders

MalaCards integrated aliases for Mitochondrial Disorders:

Name: Mitochondrial Disorders 25
Mitochondrial Myopathies 25 53 54 6 70
Mitochondrial Diseases 29 54 6 42 70
Mitochondrial Encephalomyopathies 25 54 70
Mitochondrial Disease 58 36
Mitochondrial Respiratory Chain Deficiencies 70
Oxidative Phosphorylation Disorders 25
Respiratory Chain Deficiency 54
Respiratory Chain Disorders 25
Mitochondrial Disorder 39


Orphanet: 58  
Inborn errors of metabolism

External Ids:

KEGG 36 H01427
MESH via Orphanet 45 D028361
UMLS via Orphanet 71 C0751651
Orphanet 58 ORPHA68380
UMLS 70 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 myopathies, is related to diabetes and deafness, maternally inherited and mitochondrial complex i deficiency, nuclear type 1, and has symptoms including muscle weakness, myalgia and muscle cramp. An important gene associated with Mitochondrial Disorders is MT-ND5 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Atorvastatin and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, liver and placenta.

NINDS : 53 Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria—small, energy-producing structures that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures. The prognosis for these disorders ranges in severity from progressive weakness to death. Most mitochondrial myopathies occur before the age of 20, and often begin with exercise intolerance or muscle weakness. During physical activity, muscles may become easily fatigued or weak. Muscle cramping is rare, but may occur. Nausea, headache, and breathlessness are also associated with these disorders.

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 : 73 Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the... 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 819)
# Related Disease Score Top Affiliating Genes
1 diabetes and deafness, maternally inherited 32.3 MT-TL1 MT-TK MT-TE
2 mitochondrial complex i deficiency, nuclear type 1 32.2 TMEM126B POLG NDUFAF8 NDUFA6 MT-ND6 MT-ND1
3 mitochondrial dna depletion syndrome 32.1 TWNK SLC25A4 POLG OPA1
4 mitochondrial dna depletion syndrome 7 32.1 TWNK SLC25A4 POLG
5 mitochondrial myopathy, infantile, transient 32.0 MT-TE MT-ND5 MT-ND1 MT-ATP6
6 myoclonic epilepsy associated with ragged-red fibers 31.7 TWNK POLG MT-TP MT-TL1 MT-TK MT-TF
7 mitochondrial metabolism disease 31.5 TWNK SLC25A4 POLG MT-ND6 MT-ND1 MT-ATP6
8 kearns-sayre syndrome 31.2 TWNK SLC25A4 POLG MT-TL1 MT-ND6 MT-ND5
9 hereditary optic neuropathy 31.2 MT-ND6 MT-ND5 MT-ND1 MT-ATP6
10 optic nerve disease 31.1 TWNK POLG OPA1 MT-ND6 MT-ND5 MT-ND1
11 early myoclonic encephalopathy 31.0 TWNK POLG MT-TL1 MT-ND6 MT-ND5 MT-ATP6
12 lactic acidosis 31.0 SLC25A4 POLG MT-TW MT-TT MT-TL1 MT-TK
13 leigh syndrome 31.0 TWNK TMEM126B POLG NDUFAF8 NDUFA6 MT-TW
14 chronic progressive external ophthalmoplegia 31.0 TWNK SLC25A4 POLG MT-TL1 MT-TK MT-ND6
15 mitochondrial neurogastrointestinal encephalomyopathy 31.0 POLG MT-TK
16 3-methylglutaconic aciduria, type iii 30.9 TWNK SLC25A4 POLG OPA1 MT-ND6 MT-ND1
17 ptosis 30.9 TWNK POLG OPA1 MT-ND1
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 30.9 TWNK SLC25A4 POLG
19 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 30.9 TWNK SLC25A4 POLG
20 peripheral nervous system disease 30.8 TWNK POLG OPA1 MT-ND6 MT-ND1 MT-ATP6
21 polg-related disorders 30.8 TWNK POLG
22 myopathy 30.8 TWNK SLC25A4 POLG OPA1 MT-TW MT-TT
23 mitochondrial encephalomyopathy 30.7 TWNK POLG OPA1 MT-TW MT-TT MT-TL1
24 hypertrophic cardiomyopathy 30.7 SLC25A4 OPA1 MT-TL1 MT-ND5 MT-ND1 MT-CO2
25 neuropathy 30.7 TWNK SLC25A4 POLG OPA1 MT-ND6 MT-ND5
26 pearson marrow-pancreas syndrome 30.7 TWNK POLG MT-TL1 MT-ND6 MT-CO2 MT-ATP6
27 mitochondrial dna depletion syndrome 4a 30.7 TWNK SLC25A4 POLG MT-TF MT-ND5 MT-ND1
28 mitochondrial myopathy 30.7 TWNK TOP3A SLC25A4 POLG MT-TW MT-TT
29 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 30.6 MT-TW MT-TT MT-TP MT-TL1 MT-TK MT-TF
30 neuropathy, ataxia, and retinitis pigmentosa 30.6 TWNK TMEM126B POLG MT-ND6 MT-ATP6
31 sensorineural hearing loss 30.5 OPA1 MT-TL1 MT-ND6 MT-ND5 MT-ATP6
32 mitochondrial dna depletion syndrome 1 30.5 POLG MT-TK
33 leber hereditary optic neuropathy, modifier of 30.5 TWNK TMEM126B SLC25A4 POLG OPA1 MT-TT
34 ataxia neuropathy spectrum 30.5 TWNK POLG
35 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 30.5 TWNK SLC25A4 POLG MT-ATP6
36 mitochondrial dna depletion syndrome 4b 30.4 TWNK SLC25A4 POLG MT-TT
37 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.4 TWNK TMEM126B POLG MT-TW MT-TT MT-TP
38 mitochondrial dna-associated leigh syndrome and narp 30.4 MT-TW MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND1
39 autosomal dominant progressive external ophthalmoplegia 30.2 TWNK SLC25A4 POLG OPA1
40 axonal neuropathy 30.2 TWNK SLC25A4 POLG
41 cortical blindness 30.2 POLG MT-ND6 MT-ND5 MT-ND1
42 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 30.2 SLC25A4 MT-TW MT-TE
43 dysphagia 30.1 TWNK POLG
44 leber optic atrophy and dystonia 30.1 MT-ND6 MT-ND1
45 mitochondrial dna-associated leigh syndrome 30.1 MT-TW MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND1
46 parkinson disease, late-onset 30.0 POLG MT-TT MT-TP MT-TK MT-ND5 MT-ND1
47 cardiomyopathy, infantile histiocytoid 30.0 MT-TT MT-ATP6
48 congenital myasthenic syndrome 30.0 MT-TT MT-TF MT-ND5 MT-CO2
49 mitochondrial dna depletion syndrome 3 30.0 TWNK POLG
50 hsd10 mitochondrial disease 11.4

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 123)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Atorvastatin Approved Phase 4 134523-00-5 60823
2 Immunologic Factors Phase 4
3 Vaccines Phase 4
4 insulin Phase 4
5 Insulin, Globin Zinc Phase 4
6 Antimetabolites Phase 4
7 Lipid Regulating Agents Phase 4
8 Hypolipidemic Agents Phase 4
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
10 Anticholesteremic Agents Phase 4
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
Icatibant Approved, Investigational Phase 2 130308-48-4, 138614-30-9 71364
Metformin Approved Phase 2 657-24-9 4091 14219
Tocopherol Approved, Investigational Phase 2 1406-66-2
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
Bradykinin Investigational Phase 2 58-82-2 439201
18 Tocotrienol Investigational Phase 2 6829-55-6
19 Antioxidants Phase 1, Phase 2
20 Analgesics, Non-Narcotic Phase 2
21 Analgesics Phase 2
22 Antirheumatic Agents Phase 2
23 Anti-Inflammatory Agents Phase 2
24 Anti-Inflammatory Agents, Non-Steroidal Phase 2
25 Hypoglycemic Agents Phase 2
26 Complement System Proteins Phase 2
27 Immunosuppressive Agents Phase 2
28 Kininogens Phase 2
29 Bradykinin Receptor Antagonists Phase 2
30 Analgesics, Opioid Phase 2
31 Antipsychotic Agents Phase 2
32 Pharmaceutical Solutions Phase 2
33 Tocotrienols Phase 2
34 Tocopherols Phase 2
35 Tocotrienol, alpha Phase 2
Dopamine Approved Phase 1 62-31-7, 51-61-6 681
Guaifenesin Approved, Investigational, Vet_approved Phase 1 93-14-1 3516
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
Repaglinide Approved, Investigational Phase 1 135062-02-1 65981
Flurbiprofen Approved, Investigational Phase 1 5104-49-4 3394
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 1 14838-15-4 26934
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
Caffeine Approved Phase 1 58-08-2 2519
Bupropion Approved Phase 1 34841-39-9, 34911-55-2 444
Sodium citrate Approved, Investigational Phase 1 68-04-2
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
49 carnitine Phase 1
50 Vitamin B9 Phase 1

Interventional clinical trials:

(show top 50) (show all 108)
# 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 Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy Recruiting NCT04378075 Phase 2, Phase 3 Vatiquinone
5 A Phase 3 Single Arm Clinical Study to Evaluate the Efficacy and Safety of MT1621 in Subjects With Thymidine Kinase 2 (TK2) Deficiency Not yet recruiting NCT04581733 Phase 3 MT1621
6 A Randomized, Double-blind, Placebo-controlled Adaptive Phase 2/3 Study With Open-label Extension to Assess the Efficacy, Safety and Tolerability of ASP0367 in Participants With Primary Mitochondrial Myopathy Not yet recruiting NCT04641962 Phase 3 ASP0367;Placebo
7 A Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of 24 Weeks Treatment With REN001 in Patients With Primary Mitochondrial Myopathy Not yet recruiting NCT04535609 Phase 2, Phase 3 REN001;Placebo
8 A Phase 3 Randomized, 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
9 Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy Unknown status NCT00457314 Phase 2
10 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, 40 mg;omaveloxolone capsules, 80 mg;omaveloxolone capsules, 160 mg
11 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
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 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover Study to Evaluate Safety, Tolerability, and Efficacy of Subcutaneous Injections of MTP-131 in Subjects With Mitochondrial Myopathy Previously Treated in the SPIMM-201 Study Completed NCT02805790 Phase 2 Elamipretide;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 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
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 Mitochondrial Dysfunction in Chronic Kidney Disease Completed NCT03177798 Phase 2 Icatibant;Placebo
19 Heart Rate Variability in Response to Metformin Challenge Completed NCT02500628 Phase 2 Metformin
20 A Phase 2a Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Study in Individuals With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Recruiting NCT04475549 Phase 2 IW-6463 Tablets
21 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
22 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
23 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
24 A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders Not yet recruiting NCT04802707 Phase 2
25 A Phase IIb Open-label, Multi-centre, Extension Study to Explore the Long-term Safety and Efficacy of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation Who Have Completed the KHENERGYZE Study KH176-202. Not yet recruiting NCT04604548 Phase 2 Oral administration of 100 mg KH176 twice daily
26 The Safety, Tolerability, Pharmacodynamics, and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase (EE-TP) in Patients With MNGIE Not yet recruiting NCT03866954 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) Terminated NCT02976038 Phase 2 elamipretide
28 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
29 An Open-Label Phase 2 Safety and Efficacy Study of EPI-743 (VincerinoneTM) in Children With Pearson Syndrome Terminated NCT02104336 Phase 2 EPI-743
30 Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)? Unknown status NCT02348125 Phase 1 Mitochondrial Cocktail
31 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
32 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
33 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
34 A Phase I, Open-label, Fixed-sequence, Crossover, Drug-drug Interaction Study to Investigate the Inhibition Potential of KL1333 on CYP1A2, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, and CYP3A4 in Healthy Subjects Recruiting NCT04643249 Phase 1 KL1333;Flurbiprofen;Dextromethorphan;Bupropion;Midazolam injection;Omeprazole;Caffeine;Repaglinide
35 A First in Human Phase I, Open Label Dose-escalation Study to Evaluate the Safety of Infusion of MNV-BM-PLC (Autologous CD34+ Cells Enriched With Placenta Derived Allogeneic Mitochondria) in Patients With Primary Mitochondrial Diseases Associated With Mitochondrial DNA Mutation or Deletion Not yet recruiting NCT04548843 Phase 1
36 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)
37 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 Terminated NCT03862846 Phase 1 REN001
38 Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability. Unknown status NCT00831948
40 The Rare Disease Clinical Research Network Natural History Study of MNGIE Unknown status NCT01694953
41 Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies Unknown status NCT03513835
42 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Unknown status NCT02985710
43 Acute Effects of Dietary Glycemic Index on Lactate and Glucose Homeostasis in Individuals With Primary Mitochondrial Disease Completed NCT02284334
44 Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease Completed NCT02154711
45 Study of Interaction Between Adipose and Muscle Tissues in the Control of Muscle Mitochondrial Functions Completed NCT00446745
46 DINAMITE Study: An Explorative Study of the Effect of Dietary Intervention on Body Function and Quality of Life in Adults With Mitochondrial Disease Caused by the m.3243A>G Mutation. Completed NCT02286856
47 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
48 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy Completed NCT01301235
49 Metabolic Regulation by Tumor Suppressor p53 in Li-Fraumeni Syndrome Completed NCT00406445
50 Assessment and Prevalence of Gastrointestinal Dysfunction in Children With Mitochondrial Disorders (MD) Completed NCT01137240

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:

Skeletal Muscle, Liver, Placenta, Eye, Spinal Cord, Endothelial, Skin

Publications for Mitochondrial Disorders

Articles related to Mitochondrial Disorders:

(show top 50) (show all 2475)
# Title Authors PMID Year
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. 6 61
27132592 2016
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. 6
30201738 2018
Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 6
30236074 2018
A novel complex neurological phenotype due to a homozygous mutation in FDX2. 6
30010796 2018
CO2-sensitive tRNA modification associated with human mitochondrial disease. 6
29760464 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 6
29478781 2018
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. 6
29290614 2018
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. 6
29075935 2017
Decreased male reproductive success in association with mitochondrial dysfunction. 6
28812649 2017
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. 6
27412952 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. 6
27374774 2016
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy. 6
25873012 2015
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 61 25
25058219 2014
Targeted exome sequencing of suspected mitochondrial disorders. 61 25
23596069 2013
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. 6
22638997 2012
PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. 61 25
22456975 2012
Monogenic mitochondrial disorders. 25 61
22435372 2012
A disease-causing point mutation in human mitochondrial tRNAMet rsults in tRNA misfolding leading to defects in translational initiation and elongation. 6
18835817 2008
Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. 25 61
17085458 2006
Pure myopathy associated with a novel mitochondrial tRNA gene mutation. 6
16476954 2006
Treatment for mitochondrial disorders. 25 61
16437486 2006
Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. 25 61
16091512 2005
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. 6
15372523 2004
Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. 61 25
11506394 2001
Epidemiology and treatment of mitochondrial disorders. 61 25
11579428 2001
Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. 61 25
11579429 2001
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 6
11085913 2001
Clinical spectrum and diagnosis of mitochondrial disorders. 61 25
11579420 2001
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. 25 61
9683591 1998
A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance. 6
9633749 1998
A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene. 6
9673981 1998
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. 6
9012410 1997
Molecular genetic aspects of human mitochondrial disorders. 61 25
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. 61 25
8513395 1993
Mitochondrial disorder associated with newborn cardiopulmonary arrest. 6
8511015 1993
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. 61 25
2541333 1989
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. 61 25
2830540 1988
A single-arm, open-label, intervention study to investigate the improvement of glucose tolerance after administration of the 5-aminolevulinic acid (5-ALA) in the patients with mitochondrial diabetes mellitus. 42
33725905 2021
Mitochondriopathies as a Clue to Systemic Disorders-Analytical Tools and Mitigating Measures in Context of Predictive, Preventive, and Personalized (3P) Medicine. 42
33670490 2021
Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions. 42
33435522 2021
Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. 25
24963768 2016
Mitochondrial dysfunction in central nervous system white matter disorders. 25
24865954 2014
Diagnostic clinical genome and exome sequencing. 25
24941179 2014
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. 25
24199812 2013
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. 25
23355809 2013
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. 61 54
20185557 2010
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. 25
20393463 2010
A mechanistic view of human mitochondrial DNA polymerase gamma: providing insight into drug toxicity and mitochondrial disease. 61 54
20083238 2010
Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease. 61 54
20110367 2010

Variations for Mitochondrial Disorders

ClinVar genetic disease variations for Mitochondrial Disorders:

6 (show top 50) (show all 136)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RMND1 NM_017909.4(RMND1):c.565C>T (p.Gln189Ter) SNV Pathogenic 225257 rs886037772 GRCh37: 6:151757629-151757629
GRCh38: 6:151436494-151436494
2 RMND1 NM_017909.4(RMND1):c.1303C>T (p.Leu435Phe) SNV Pathogenic 225256 rs886037771 GRCh37: 6:151726869-151726869
GRCh38: 6:151405734-151405734
3 RMND1 NM_017909.4(RMND1):c.631G>A (p.Val211Met) SNV Pathogenic 225260 rs771894262 GRCh37: 6:151754348-151754348
GRCh38: 6:151433213-151433213
4 RMND1 NM_017909.4(RMND1):c.533C>A (p.Thr178Lys) SNV Pathogenic 225258 rs370863743 GRCh37: 6:151757661-151757661
GRCh38: 6:151436526-151436526
5 RMND1 NM_017909.4(RMND1):c.1317+1G>T SNV Pathogenic 225259 rs886037773 GRCh37: 6:151726854-151726854
GRCh38: 6:151405719-151405719
6 RMND1 NM_017909.4(RMND1):c.830+1G>A SNV Pathogenic 225261 rs773470671 GRCh37: 6:151748616-151748616
GRCh38: 6:151427481-151427481
7 overlap with 11 genes NC_012920.1:m.8815_13722del4908 Deletion Pathogenic 430682 GRCh37: MT:8815-13722
GRCh38: MT:8815-13722
8 overlap with 8 genes NC_012920.1:m.11263_15374del4112 Deletion Pathogenic 430685 GRCh37: MT:11263-15374
GRCh38: MT:11263-15374
9 MT-CO2 NC_012920.1:m.7989T>C SNV Pathogenic 430690 rs1131692064 GRCh37: MT:7989-7989
GRCh38: MT:7989-7989
10 MT-TL2 NC_012920.1:m.12271T>C SNV Pathogenic 430687 rs1131692061 GRCh37: MT:12271-12271
GRCh38: MT:12271-12271
11 overlap with 12 genes NC_012920.1:m.8483_13459del4977 Deletion Pathogenic 430680 GRCh37: MT:8483-13459
GRCh38: MT:8483-13459
12 overlap with 13 genes NC_012920.1:m.6003_11220del5218 Deletion Pathogenic 430674 GRCh37: MT:6003-11220
GRCh38: MT:6003-11220
13 overlap with 10 genes NC_012920.1:m.7730_11255del3526 Deletion Pathogenic 430677 GRCh37: MT:7730-11255
GRCh38: MT:7730-11255
14 overlap with 14 genes NC_012920.1:m.8839_14895del6057 Deletion Pathogenic 430683 GRCh37: MT:8839-14895
GRCh38: MT:8839-14895
15 MT-TL2 NC_012920.1:m.12283G>A SNV Pathogenic 430688 rs1131692062 GRCh37: MT:12283-12283
GRCh38: MT:12283-12283
16 overlap with 6 genes NC_012920.1:m.12114_14420del2307 Deletion Pathogenic 430686 GRCh37: MT:12114-14420
GRCh38: MT:12114-14420
17 overlap with 20 genes NC_012920.1:m.6469_15587del9119 Deletion Pathogenic 430675 GRCh37: MT:6469-15587
GRCh38: MT:6469-15587
18 overlap with 11 genes NC_012920.1:m.8587_12967del4381 Deletion Pathogenic 430681 GRCh37: MT:8587-12967
GRCh38: MT:8587-12967
19 overlap with 13 genes NC_012920.1:m.8290_13040del4751 Deletion Pathogenic 430678 GRCh37: MT:8290-13040
GRCh38: MT:8290-13040
20 overlap with 11 genes NC_012920.1:m.10106_15067del4962 Deletion Pathogenic 430684 GRCh37: MT:10106-15067
GRCh38: MT:10106-15067
21 overlap with 17 genes NC_012920.1:m.7129_13991del6863 Deletion Pathogenic 430676 GRCh37: MT:7129-13991
GRCh38: MT:7129-13991
22 GFER NM_005262.3(GFER):c.586C>T (p.Arg196Cys) SNV Pathogenic 426097 rs370475970 GRCh37: 16:2035997-2035997
GRCh38: 16:1985996-1985996
23 YARS2 NM_001040436.3(YARS2):c.1106G>A (p.Cys369Tyr) SNV Pathogenic 426098 rs1365700579 GRCh37: 12:32903039-32903039
GRCh38: 12:32750105-32750105
24 TWNK NM_021830.5(TWNK):c.1374G>T (p.Gln458His) SNV Pathogenic 426104 rs1554887213 GRCh37: 10:102749531-102749531
GRCh38: 10:100989774-100989774
25 RRM2B NM_001172477.1(RRM2B):c.-5G>A SNV Pathogenic 132103 rs515726180 GRCh37: 8:103251055-103251055
GRCh38: 8:102238827-102238827
26 TWNK NM_021830.5(TWNK):c.1391T>C (p.Leu464Pro) SNV Pathogenic 426105 rs1554887222 GRCh37: 10:102749548-102749548
GRCh38: 10:100989791-100989791
27 YARS2 NM_001040436.3(YARS2):c.1147_1164dup (p.Val383_Glu388dup) Duplication Pathogenic 426099 rs775256289 GRCh37: 12:32902980-32902981
GRCh38: 12:32750046-32750047
28 TWNK NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) SNV Pathogenic 4618 rs111033573 GRCh37: 10:102749042-102749042
GRCh38: 10:100989285-100989285
29 TWNK NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) SNV Pathogenic 4622 rs111033577 GRCh37: 10:102749109-102749109
GRCh38: 10:100989352-100989352
30 RRM2B NM_001172477.1(RRM2B):c.1166del (p.Ser388_Leu389insTer) Deletion Pathogenic 30432 rs515726199 GRCh37: 8:103220467-103220467
GRCh38: 8:102208239-102208239
31 MT-TF NC_012920.1(MT-CYB):m.590A>G SNV Pathogenic 870573 GRCh37: MT:590-590
GRCh38: MT:590-590
32 MT-TL2 NC_012920.1(MT-CYB):m.12293G>A SNV Pathogenic 690189 rs1603223654 GRCh37: MT:12293-12293
GRCh38: MT:12293-12293
33 MT-TP NC_012920.1:m.15958A>T SNV Pathogenic 870596 GRCh37: MT:15958-15958
GRCh38: MT:15958-15958
34 TMEM126B NM_018480.5(TMEM126B):c.401del (p.Asn134fs) Deletion Pathogenic 236208 rs886037835 GRCh37: 11:85346713-85346713
GRCh38: 11:85635669-85635669
35 TMEM126B NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) SNV Pathogenic 236209 rs141542003 GRCh37: 11:85347215-85347215
GRCh38: 11:85636171-85636171
36 SLC25A4 NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly) SNV Pathogenic 253038 rs886041082 GRCh37: 4:186067017-186067017
GRCh38: 4:185145863-185145863
37 MT-ATP6 NC_012920.1:m.8839G>C SNV Pathogenic 155892 rs1556423547 GRCh37: MT:8839-8839
GRCh38: MT:8839-8839
38 TWNK NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) SNV Pathogenic 426106 rs1554887097 GRCh37: 10:102749088-102749088
GRCh38: 10:100989331-100989331
39 GFM2 NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser) SNV Pathogenic 440788 rs1554042187 GRCh37: 5:74054703-74054703
GRCh38: 5:74758878-74758878
40 GFM2 NM_032380.5(GFM2):c.636del (p.Glu213fs) Deletion Pathogenic 440787 rs746538436 GRCh37: 5:74041963-74041963
GRCh38: 5:74746138-74746138
41 TOP3A NM_004618.5(TOP3A):c.298A>G (p.Met100Val) SNV Pathogenic 446285 rs376902371 GRCh37: 17:18211681-18211681
GRCh38: 17:18308367-18308367
42 TOP3A NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) SNV Pathogenic 446286 rs200944917 GRCh37: 17:18208522-18208522
GRCh38: 17:18305208-18305208
43 ATP5F1D NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly) SNV Pathogenic 489386 rs1555745989 GRCh37: 19:1244117-1244117
GRCh38: 19:1244118-1244118
44 NDUFA6 NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) SNV Pathogenic 487476 rs1023075742 GRCh37: 22:42486746-42486746
GRCh38: 22:42090742-42090742
45 NDUFA6 NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) SNV Pathogenic 487477 rs750830935 GRCh37: 22:42483128-42483128
GRCh38: 22:42087124-42087124
46 NDUFA6 NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) SNV Pathogenic 487478 rs758833609 GRCh37: 22:42482309-42482309
GRCh38: 22:42086305-42086305
47 NDUFA6 NM_002490.6(NDUFA6):c.309del (p.Met104fs) Deletion Pathogenic 549665 rs763006208 GRCh37: 22:42482265-42482265
GRCh38: 22:42086261-42086261
48 NDUFA6 NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) Deletion Pathogenic 487475 rs1569463838 GRCh37: 22:42482242-42482243
GRCh38: 22:42086238-42086239
49 NDUFA6 NM_002490.6(NDUFA6):c.355del (p.Leu119fs) Deletion Pathogenic 549666 rs781099275 GRCh37: 22:42482219-42482219
GRCh38: 22:42086215-42086215
50 OXA1L NM_005015.5(OXA1L):c.320_327dup (p.Ser110fs) Duplication Pathogenic 560159 rs1566433812 GRCh37: 14:23237259-23237260
GRCh38: 14:22768050-22768051

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 membrane GO:0031966 9.65 TMEM126B OPA1 NDUFA6 MT-ND6 MT-ND1
2 mitochondrial inner membrane GO:0005743 9.61 TMEM126B SLC25A4 OPA1 NDUFA6 MT-ND6 MT-ND5
3 respiratory chain GO:0070469 9.55 NDUFA6 MT-ND6 MT-ND5 MT-ND1 MT-CO2
4 mitochondrial respiratory chain complex I GO:0005747 9.5 NDUFA6 MT-ND5 MT-ND1
5 mitochondrion GO:0005739 9.44 TWNK TOP3A TMEM126B SLC25A4 POLG OPA1

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.83 MT-CO2 MT-ND1 MT-ND5 MT-ND6 NDUFA6
2 DNA replication GO:0006260 9.63 POLG TOP3A TWNK
3 cellular response to glucose stimulus GO:0071333 9.43 OPA1 POLG TWNK
4 response to hyperoxia GO:0055093 9.4 MT-ATP6 POLG
5 mitochondrial genome maintenance GO:0000002 9.37 OPA1 SLC25A4
6 mitochondrial DNA replication GO:0006264 9.32 POLG TWNK
7 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.26 MT-ND1 MT-ND5 MT-ND6 NDUFA6
8 ATP synthesis coupled electron transport GO:0042773 9.16 MT-CO2 MT-ND5
9 mitochondrial respiratory chain complex I assembly GO:0032981 9.1 MT-ND1 MT-ND5 MT-ND6 NDUFA6 NDUFAF8 TMEM126B

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

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase activity GO:0003954 8.96 MT-ND5 MT-ND1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 NDUFA6 MT-ND6 MT-ND5 MT-ND1

Sources for Mitochondrial Disorders

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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