Aliases & Classifications for Mitochondrial Disorders

MalaCards integrated aliases for Mitochondrial Disorders:

Name: Mitochondrial Disorders 24
Mitochondrial Diseases 37 29 55 6 43 73
Mitochondrial Myopathies 24 54 55 73
Mitochondrial Encephalomyopathies 24 55 73
Mitochondrial Respiratory Chain Deficiencies 73
Oxidative Phosphorylation Disorders 24
Encephalomyopathy, Mitochondrial 40
Respiratory Chain Deficiency 55
Respiratory Chain Disorders 24

External Ids:

KEGG 37 H01427
UMLS 73 C0949857

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 mitochondrial myopathy and chronic progressive external ophthalmoplegia, and has symptoms including muscle cramp, muscle rigidity and muscle spasticity. 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 purine nucleotides de novo biosynthesis and tRNA Aminoacylation. The drugs Dopamine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain.

GeneReviews: NBK1224

Related Diseases for Mitochondrial Disorders

Diseases in the Mitochondrial Disorders family:

Isca2-Related Mitochondrial Disorder Rrm2b-Related Mitochondrial Disease

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

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy 34.7 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 MT-TL2 POLG
2 chronic progressive external ophthalmoplegia 33.2 MT-TL2 POLG SLC25A4 SPG7 TWNK
3 diabetes and deafness, maternally inherited 32.8 MT-TE MT-TL1
4 kearns-sayre syndrome 32.6 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 POLG RRM2B
5 myoclonic epilepsy associated with ragged-red fibers 32.6 MT-ND5 MT-TL1 POLG TWNK
6 mitochondrial dna depletion syndrome 7 32.4 SLC25A4 TWNK
7 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.2 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 POLG
8 lactic acidosis 31.0 MT-ATP6 MT-ND5 POLG RMND1 YARS2
9 mitochondrial neurogastrointestinal encephalomyopathy 30.7 POLG RRM2B
10 leigh syndrome 30.5 GFM2 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 POLG
11 myopathy 30.4 GFER MT-ATP6 MT-CO2 MT-ND5 POLG SLC25A4
12 mitochondrial encephalomyopathy 30.3 MT-CO2 MT-ND5 MT-TL1 MT-TL2 MT-TR
13 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency 12.1
14 hsd10 mitochondrial disease 12.0
15 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 11.9
16 rrm2b-related mitochondrial disease 11.9
17 isca2-related mitochondrial disorder 11.8
18 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.8
19 combined oxidative phosphorylation deficiency 3 11.4
20 mitochondrial metabolism disease 11.3
21 ataxia neuropathy spectrum 11.1 POLG TWNK
22 ocular motility disease 11.1 POLG SLC25A4 TWNK
23 myopathy, lactic acidosis, and sideroblastic anemia 1 11.1
24 mitochondrial dna depletion syndrome 1 11.1 MT-ATP6 MT-CO2 POLG
25 sideroblastic anemia acquired 11.1 MT-ATP6 MT-CO2
26 camptocormism 11.1 POLG RRM2B
27 axonal neuropathy 11.0 POLG SLC25A4 TWNK
28 deafness, nonsyndromic sensorineural, mitochondrial 11.0 MT-ATP6 MT-CO2 MT-ND5
29 leber optic atrophy 11.0 MT-ATP6 MT-CO2 MT-ND5
30 cardiomyopathy, infantile hypertrophic 11.0 MT-ATP6 MT-CO2
31 maternally-inherited progressive external ophthalmoplegia 11.0 MT-TL1 MT-TL2 POLG TWNK
32 autosomal dominant progressive external ophthalmoplegia 11.0 OPA1 POLG RRM2B SLC25A4 TWNK
33 familial colorectal cancer 11.0 MT-ATP6 MT-CO2 MT-ND5
34 mitochondrial complex i deficiency 11.0
35 myopathy, lactic acidosis, and sideroblastic anemia 2 11.0
36 mitochondrial dna depletion syndrome 4a 11.0 POLG TWNK
37 mitochondrial dna-associated leigh syndrome and narp 11.0 MT-ATP6 MT-ND5 MT-TL1 MT-TL2
38 leber hereditary optic neuropathy 10.9 MT-ATP6 MT-ND5 OPA1 YARS2
39 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.9 POLG TWNK
40 myopathy, lactic acidosis, and sideroblastic anemia 10.8 MT-ATP6 YARS2
41 sengers syndrome 10.7
42 mitochondrial myopathy, infantile, transient 10.7
43 myopathy, lactic acidosis, and sideroblastic anemia 3 10.7
44 mitochondrial dna depletion syndrome 11 10.7
45 mitochondrial dna depletion syndrome 12b , autosomal recessive 10.7
46 combined oxidative phosphorylation deficiency 24 10.7
47 spastic paraplegia 7, autosomal recessive 10.7 OPA1 SPG7
48 trehalase deficiency 10.6 GFER OPA1 RMND1 SLC25A4 SPG7
49 orotic aciduria 10.6
50 mitochondrial complex v deficiency, nuclear type 1 10.6

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

Drugs & Therapeutics for Mitochondrial Disorders

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

(show top 50) (show all 190)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58186-27-9
4
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
5 insulin Phase 4,Not Applicable
6 Cholinergic Agents Phase 4,Phase 2,Phase 3
7 Muscarinic Antagonists Phase 4
8 Cholinergic Antagonists Phase 4
9 Serotonin Agents Phase 4
10 Serotonin Uptake Inhibitors Phase 4
11 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Early Phase 1,Not Applicable
12 Neurotransmitter Uptake Inhibitors Phase 4
13 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
14 Cytochrome P-450 Enzyme Inhibitors Phase 4
15 Vaccines Phase 4
16 Parasympatholytics Phase 4
17 Dopamine Agents Phase 4
18 Dopamine Uptake Inhibitors Phase 4
19 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1,Not Applicable
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Early Phase 1
21 Hypolipidemic Agents Phase 4,Phase 2,Early Phase 1
22 Anticholesteremic Agents Phase 4,Early Phase 1
23 Antidepressive Agents Phase 4
24 Antidepressive Agents, Second-Generation Phase 4
25 Insulin, Globin Zinc Phase 4,Not Applicable
26 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
27 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
28 Antiparkinson Agents Phase 4
29 Lipid Regulating Agents Phase 4,Phase 2,Early Phase 1
30 Psychotropic Drugs Phase 4
31 Antimetabolites Phase 4,Phase 2,Early Phase 1
32 Autonomic Agents Phase 4,Early Phase 1
33 Calcium, Dietary Phase 4,Early Phase 1,Not Applicable
34 Atorvastatin Calcium Phase 4 134523-03-8
35
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
36
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
37
Curcumin Approved, Investigational Phase 3 458-37-7 969516
38
Varenicline Approved, Investigational Phase 2, Phase 3 249296-44-4 5310966
39
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3,Phase 2 303-98-0 5281915
40 Ubiquinone Phase 3,Phase 2,Phase 1
41 Micronutrients Phase 3,Phase 2,Phase 1,Not Applicable
42 Anesthetics Phase 3,Not Applicable
43 Trace Elements Phase 3,Phase 2,Phase 1,Not Applicable
44 Vitamins Phase 3,Phase 2,Phase 1,Not Applicable
45 Anti-Infective Agents Phase 3,Phase 2
46 Antirheumatic Agents Phase 3,Phase 2,Phase 1
47 Analgesics Phase 3,Phase 1,Phase 2,Not Applicable
48 interferons Phase 3,Phase 2
49 Analgesics, Non-Narcotic Phase 3,Phase 1,Phase 2,Not Applicable
50 Hypoglycemic Agents Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 179)
# Name Status NCT ID Phase Drugs
1 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
2 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4 bupropion & Citalopram;Bupropion & Placebo;Placebo & Citalopram;Placebo & Placebo
3 Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity Recruiting NCT03351998 Phase 4 Lipitor 20Mg Tablet;Lipitor 80Mg Tablet;Placebo Oral Tablet
4 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4 Idebenone
5 Phase III Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3 CoenzymeQ10;Placebo
6 Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02797080 Phase 3 interferon γ-1b
7 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3 Interferon γ-1b
8 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
9 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3 Idebenone;Placebo
10 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3 idebenone
11 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3 idebenone;Placebo
12 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
13 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
14 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
15 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
16 Efficacy and Safety Study of Bilateral Intravitreal Injection of GS010 for the Treatment of Vision Loss up to 1 Year From Onset in LHON Due to the ND4 Mutation Recruiting NCT03293524 Phase 3 Placebo
17 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Recruiting NCT02616484 Phase 3 Dichloroacetate (DCA)
18 Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652780 Phase 3
19 Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation Active, not recruiting NCT02652767 Phase 3
20 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4
21 A Trial to Evaluate the Safety and Efficacy of Elamipretide in Subjects With Primary Mitochondrial Myopathy Followed by an Open-Label Extension Enrolling by invitation NCT03323749 Phase 3
22 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
23 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
24 EPI-743 for Mitochondrial Respiratory Chain Diseases Unknown status NCT01370447 Phase 2 EPI-743
25 Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome Unknown status NCT00068913 Phase 2 Dichloroacetate
26 The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease Unknown status NCT00457314 Phase 2
27 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency Unknown status NCT02640443 Phase 2 Sulfamethoxazole
28 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
29 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
30 A 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
31 A Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
32 The KHENERGY Study Completed NCT02909400 Phase 2 KH176;placebo
33 A Study Investigating the Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy Completed NCT02367014 Phase 1, Phase 2 MTP-131;MTP-131;MTP-131;Placebo
34 Heart Rate Variability in Response to Metformin Challenge Completed NCT02500628 Phase 2 Metformin
35 Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome Completed NCT01721733 Phase 2 Placebo;EPI-743 15 mg/kg;EPI-743 5 mg/kg
36 Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Completed NCT00983788 Phase 2 Bezafibrate
37 RTA 408 Capsules in Patients With 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
38 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
39 A First in Human Study of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 RT001;RT001 comparator
40 A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients Completed NCT02035020 Phase 2 gamma interferon
41 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
42 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2 EPI-743
43 Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia Completed NCT01728064 Phase 2 Placebo;EPI-743 400 mg;EPI-743 200 mg
44 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2 L-Arginine
45 Efficacy Study of Epoetin Alfa in Friedreich Ataxia Completed NCT01493973 Phase 2 Epoetin alfa;Placebo
46 A Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
47 Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2 alpha-tocopherolquinone (A0001);alpha-tocopherolquinone (A0001);placebo
48 Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia Completed NCT01016366 Phase 2 Lu AA24493;Placebo
49 A Study Investigating the Long-term Safety and Efficacy of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00897221 Phase 2 Deferiprone oral solution 100mg/mL;Deferiprone oral solution 100 mg/mL
50 Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone

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 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TA MT-TC MT-TD MT-TF MT-TH MT-TK MT-TL1 MT-TL2 MT-TM MT-TQ MT-TR MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MT-TY

Anatomical Context for Mitochondrial Disorders

MalaCards organs/tissues related to Mitochondrial Disorders:

41
Liver, Testes, Brain, Kidney, Spinal Cord, Endothelial, Lung

Publications for Mitochondrial Disorders

Articles related to Mitochondrial Disorders:

(show top 50) (show all 570)
# Title Authors Year
1
Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders. ( 29502919 )
2018
2
Biomarkers for Detecting Mitochondrial Disorders. ( 29385732 )
2018
3
Are patients affected by mitochondrial disorders at nutritional risk? ( 29429536 )
2018
4
First-line genomic diagnosis of mitochondrial disorders. ( 29789687 )
2018
5
Letter to the Editor: Endocrine Compromise in Mitochondrial Disorders. ( 29942921 )
2018
6
Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations. ( 29272804 )
2018
7
Involvement of the Spinal Cord in Mitochondrial Disorders. ( 29725177 )
2018
8
Cerebral imaging in paediatric mitochondrial disorders. ( 29978728 )
2018
9
MicroRNAs are inappropriate for characterising hearing impairment in mitochondrial disorders. ( 29855326 )
2018
10
Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders. ( 29315169 )
2018
11
Single nucleotide mtDNA polymorphisms may contribute to cancerogenesis in mitochondrial disorders. ( 29536588 )
2018
12
Natural history of mitochondrial disorders: a systematic review. ( 29980629 )
2018
13
Polycystic ovary syndrome in mitochondrial disorders due mtDNA or nDNA variants. ( 29422990 )
2018
14
Frequency of Headache in Mitochondrial Disorders. ( 29411365 )
2018
15
Headache in mitochondrial disorders. ( 29408771 )
2018
16
Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders. ( 29453449 )
2018
17
Recent perspectives of pediatric mitochondrial diseases. ( 29375674 )
2018
18
Cerebellar atrophy is common among mitochondrial disorders. ( 29717375 )
2018
19
Frequency of Headache in Mitochondrial Disorders: A Response. ( 29411368 )
2018
20
The current landscape for the treatment of mitochondrial disorders. ( 29502956 )
2018
21
Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study. ( 29139113 )
2018
22
Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease. ( 29911009 )
2018
23
Polymegathism as a biomarker of mitochondrial disorders. ( 29536171 )
2018
24
Intramyocellular lipid excess in the mitochondrial disorder MELAS: MRS determination at 7T. ( 28589178 )
2017
25
Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease. ( 29077060 )
2017
26
Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder. ( 28391286 )
2017
27
Treating mitochondrial disorders requires full exploitation of available therapeutic options. ( 29062713 )
2017
28
Phenotypic and genotypic features in pediatric and adult mitochondrial disorders. ( 28345132 )
2017
29
Death in Pediatric Mitochondrial Disorders. ( 28479125 )
2017
30
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28805065 )
2017
31
Mitochondrial disorders: The need for precision ultrastructural analysis in clinical diagnosis. ( 28230509 )
2017
32
Focal segmental glomerulosclerosis associated with mitochondrial disease. ( 29043143 )
2017
33
Cerebral Manifestations of Mitochondrial Disorders. ( 29391077 )
2017
34
Response to Growth hormone deficiency in mitochondrial disorders. ( 28315851 )
2017
35
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. ( 28185376 )
2017
36
Use of the Ketogenic Diet to Treat Intractable Epilepsy in Mitochondrial Disorders. ( 28587136 )
2017
37
Mitochondrial disorders of the retinal ganglion cells and the optic nerve. ( 29054473 )
2017
38
A Critical Assessment of the Therapeutic Potential of Resveratrol Supplements for Treating Mitochondrial Disorders. ( 28906460 )
2017
39
Mental illness in patients with inherited mitochondrial disorders. ( 28545943 )
2017
40
In Reply: Death in Pediatric Mitochondrial Disorders. ( 28583703 )
2017
41
Migraine in mitochondrial disorders: Prevalence and characteristics. ( 28762753 )
2017
42
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. ( 28299359 )
2017
43
Noncompaction in Mitochondrial Disorders. ( 29217715 )
2017
44
Involvement of Mitochondrial Disorders in Septic Cardiomyopathy. ( 29201271 )
2017
45
A novel MTTT mutation m.15933G?>?A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease. ( 28187756 )
2017
46
Anesthetic Management of Two Pediatric Patients With Concurrent Diagnoses of Mitochondrial Disease and Malignant Hyperthermia Susceptibility: A Case Report. ( 28604462 )
2017
47
Genetic Counselling for Maternally Inherited Mitochondrial Disorders. ( 28536827 )
2017
48
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28914548 )
2017
49
Gastrointestinal manifestations of mitochondrial disorders: a systematic review. ( 28286566 )
2017
50
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders. ( 29159459 )
2017

Variations for Mitochondrial Disorders

ClinVar genetic disease variations for Mitochondrial Disorders:

6
(show top 50) (show all 146)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK NM_021830.4(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 GRCh37 Chromosome 10, 102749042: 102749042
2 TWNK NM_021830.4(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 GRCh38 Chromosome 10, 100989285: 100989285
3 TWNK NM_021830.4(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 GRCh37 Chromosome 10, 102749109: 102749109
4 TWNK NM_021830.4(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 GRCh38 Chromosome 10, 100989352: 100989352
5 TWNK NM_021830.4(TWNK): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs28937887 GRCh37 Chromosome 10, 102748968: 102748968
6 TWNK NM_021830.4(TWNK): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs28937887 GRCh38 Chromosome 10, 100989211: 100989211
7 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh37 Chromosome 3, 193384959: 193384962
8 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh38 Chromosome 3, 193667170: 193667173
9 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh37 Chromosome 3, 193361785: 193361785
10 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh38 Chromosome 3, 193643996: 193643996
11 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
12 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh38 Chromosome MT, 3243: 3243
13 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh37 Chromosome MT, 14709: 14709
14 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh38 Chromosome MT, 14709: 14709
15 MT-TE m.14674T> C single nucleotide variant Pathogenic rs387906421 GRCh37 Chromosome MT, 14674: 14674
16 MT-TE m.14674T> C single nucleotide variant Pathogenic rs387906421 GRCh38 Chromosome MT, 14674: 14674
17 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
18 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
19 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
20 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
21 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
22 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh38 Chromosome MT, 9185: 9185
23 MT-ND5; MT-TL1 m.13513G> A single nucleotide variant Pathogenic rs267606897 GRCh37 Chromosome MT, 13513: 13513
24 MT-ND5; MT-TL1 m.13513G> A single nucleotide variant Pathogenic rs267606897 GRCh38 Chromosome MT, 13513: 13513
25 POLG NM_002693.2(POLG): c.2864A> G (p.Tyr955Cys) single nucleotide variant Pathogenic rs113994099 GRCh37 Chromosome 15, 89864114: 89864114
26 POLG NM_002693.2(POLG): c.2864A> G (p.Tyr955Cys) single nucleotide variant Pathogenic rs113994099 GRCh38 Chromosome 15, 89320883: 89320883
27 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
28 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic rs113994095 GRCh38 Chromosome 15, 89327201: 89327201
29 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918054 GRCh37 Chromosome 15, 89866691: 89866691
30 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918054 GRCh38 Chromosome 15, 89323460: 89323460
31 POLG NM_002693.2(POLG): c.3488T> G (p.Met1163Arg) single nucleotide variant Pathogenic rs113994100 GRCh37 Chromosome 15, 89860762: 89860762
32 POLG NM_002693.2(POLG): c.3488T> G (p.Met1163Arg) single nucleotide variant Pathogenic rs113994100 GRCh38 Chromosome 15, 89317531: 89317531
33 POLG NM_002693.2(POLG): c.3630dupC (p.Gly1211Argfs) duplication Pathogenic rs113994101 GRCh37 Chromosome 15, 89860620: 89860620
34 POLG NM_002693.2(POLG): c.3630dupC (p.Gly1211Argfs) duplication Pathogenic rs113994101 GRCh38 Chromosome 15, 89317389: 89317389
35 POLG NM_002693.2(POLG): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs113994093 GRCh37 Chromosome 15, 89873472: 89873472
36 POLG NM_002693.2(POLG): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs113994093 GRCh38 Chromosome 15, 89330241: 89330241
37 RRM2B NM_015713.4(RRM2B): c.950delT (p.Leu317Terfs) deletion Pathogenic rs515726199 GRCh37 Chromosome 8, 103220467: 103220467
38 RRM2B NM_015713.4(RRM2B): c.950delT (p.Leu317Terfs) deletion Pathogenic rs515726199 GRCh38 Chromosome 8, 102208239: 102208239
39 OPA1 NM_015560.2(OPA1): c.1294A> G (p.Ile432Val) single nucleotide variant Pathogenic rs387906899 GRCh37 Chromosome 3, 193361398: 193361398
40 OPA1 NM_015560.2(OPA1): c.1294A> G (p.Ile432Val) single nucleotide variant Pathogenic rs387906899 GRCh38 Chromosome 3, 193643609: 193643609
41 OPA1 NM_015560.2(OPA1): c.1635C> G (p.Ser545Arg) single nucleotide variant Pathogenic rs398124298 GRCh37 Chromosome 3, 193364899: 193364899
42 OPA1 NM_015560.2(OPA1): c.1635C> G (p.Ser545Arg) single nucleotide variant Pathogenic rs398124298 GRCh38 Chromosome 3, 193647110: 193647110
43 RMND1 NM_017909.3(RMND1): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs397515421 GRCh37 Chromosome 6, 151726922: 151726922
44 RMND1 NM_017909.3(RMND1): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs397515421 GRCh38 Chromosome 6, 151405787: 151405787
45 RRM2B NM_015713.4(RRM2B): c.48G> A (p.Glu16=) single nucleotide variant Pathogenic rs515726180 GRCh37 Chromosome 8, 103251055: 103251055
46 RRM2B NM_015713.4(RRM2B): c.48G> A (p.Glu16=) single nucleotide variant Pathogenic rs515726180 GRCh38 Chromosome 8, 102238827: 102238827
47 RMND1 NM_017909.3(RMND1): c.1349G> C (p.Ter450Ser) single nucleotide variant Pathogenic rs115079861 GRCh37 Chromosome 6, 151726371: 151726371
48 RMND1 NM_017909.3(RMND1): c.1349G> C (p.Ter450Ser) single nucleotide variant Pathogenic rs115079861 GRCh38 Chromosome 6, 151405236: 151405236
49 MT-ATP6 NC_012920.1: m.8839G> C single nucleotide variant Pathogenic rs369202065 GRCh37 Chromosome MT, 8839: 8839
50 MT-ATP6 NC_012920.1: m.8839G> C single nucleotide variant Pathogenic rs369202065 GRCh38 Chromosome MT, 8839: 8839

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 9.56 ATP5F1D GFM2 TWNK YARS2
2 mitochondrial inner membrane GO:0005743 9.56 ATP5F1D MT-ATP6 MT-CO2 MT-ND5 OPA1 SLC25A4
3 mitochondrion GO:0005739 9.47 ATP5F1D GFER GFM2 MT-CO2 MT-ND5 OPA1
4 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.16 ATP5F1D MT-ATP6

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.61 OPA1 SPG7 TWNK
2 ATP biosynthetic process GO:0006754 9.51 ATP5F1D MT-ATP6
3 cristae formation GO:0042407 9.49 ATP5F1D MT-ATP6
4 ATP synthesis coupled proton transport GO:0015986 9.48 ATP5F1D MT-ATP6
5 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.46 ATP5F1D MT-ATP6
6 cellular response to glucose stimulus GO:0071333 9.43 OPA1 POLG TWNK
7 response to hyperoxia GO:0055093 9.4 MT-ATP6 POLG
8 regulation of mitochondrial membrane permeability GO:0046902 9.37 SLC25A4 SPG7
9 mitochondrial genome maintenance GO:0000002 9.32 OPA1 SLC25A4
10 DNA replication GO:0006260 9.26 POLG RRM2B TOP3A TWNK
11 ATP synthesis coupled electron transport GO:0042773 9.16 MT-CO2 MT-ND5
12 mitochondrial DNA replication GO:0006264 8.8 POLG RRM2B TWNK

Sources for Mitochondrial Disorders

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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