Aliases & Classifications for Mitochondrial Disorders

MalaCards integrated aliases for Mitochondrial Disorders:

Name: Mitochondrial Disorders 23
Mitochondrial Diseases 36 28 51 40 69
Mitochondrial Encephalomyopathies 23 51 69
Mitochondrial Myopathies 23 51 69
Mitochondrial Respiratory Chain Deficiencies 69
Mitochondrial Respiratory Chain Defects 28
Oxidative Phosphorylation Disorders 23
Respiratory Chain Deficiency 51
Respiratory Chain Disorders 23

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KEGG 36 H01427
UMLS 69 C0949857

Summaries for Mitochondrial Disorders

MedlinePlus : 40 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 myalgia, muscle weakness 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 tRNA Aminoacylation and Nucleotide Metabolism. The drugs Dopamine and Bupropion have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney.

GeneReviews: NBK1224

Related Diseases for Mitochondrial Disorders

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

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy 33.9 MT-ATP6 MT-CO2 MT-CYB MT-ND5 MT-TA MT-TL1
2 chronic progressive external ophthalmoplegia 32.5 MT-TA MT-TL2 POLG SLC25A4 SPG7 TWNK
3 diabetes and deafness, maternally inherited 32.1 MT-TE MT-TL1
4 kearns-sayre syndrome 32.0 MT-ATP6 MT-CO2 MT-CYB MT-ND5 MT-TL1 POLG
5 mitochondrial dna depletion syndrome 7 31.9 SLC25A4 TWNK
6 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 31.8 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 MT-TW POLG
7 mitochondrial metabolism disease 31.6 GFM2 MT-ATP6 MT-CO2 MT-ND5 MT-TE MT-TL1
8 neuropathy 30.6 MT-ATP6 MT-CYB MT-ND5 POLG
9 lactic acidosis 30.6 MT-ATP6 MT-ND5 POLG RMND1
10 myopathy 30.2 MT-ATP6 MT-CO2 MT-CYB MT-ND5 POLG SLC25A4
11 mitochondrial neurogastrointestinal encephalomyopathy 30.1 POLG RRM2B
12 leigh syndrome 29.9 GFM2 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 MT-TW
13 mitochondrial encephalomyopathy 29.6 MT-CO2 MT-CYB MT-ND5 MT-TL1 MT-TL2 MT-TR
14 hsd10 mitochondrial disease 12.0
15 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 12.0
16 rrm2b-related mitochondrial disease 11.9
17 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.8
18 pontocerebellar hypoplasia, type 6 11.5
19 combined oxidative phosphorylation deficiency 3 11.4
20 myopathy, lactic acidosis, and sideroblastic anemia 1 11.1
21 pontocerebellar hypoplasia, type 1a 11.1
22 combined oxidative phosphorylation deficiency 33 11.1
23 mitochondrial complex i deficiency 11.0
24 myopathy, lactic acidosis, and sideroblastic anemia 2 11.0
25 combined oxidative phosphorylation deficiency 19 10.9
26 sengers syndrome 10.8
27 mitochondrial myopathy, infantile, transient 10.8
28 myopathy, lactic acidosis, and sideroblastic anemia 3 10.8
29 mitochondrial dna depletion syndrome 11 10.8
30 mitochondrial dna depletion syndrome 12b , autosomal recessive 10.8
31 combined oxidative phosphorylation deficiency 24 10.8
32 ocular motility disease 10.7 POLG SLC25A4 TWNK
33 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.6 POLG TWNK
34 axonal neuropathy 10.6 POLG SLC25A4 TWNK
35 maternally-inherited progressive external ophthalmoplegia 10.6 MT-TL1 MT-TL2
36 leber optic atrophy 10.6 MT-ATP6 MT-CYB MT-ND5
37 mitochondrial dna depletion syndrome 4a 10.6 POLG TWNK
38 orotic aciduria 10.6
39 mitochondrial complex v deficiency, nuclear type 1 10.6
40 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 10.6
41 nephronophthisis-like nephropathy 1 10.6
42 mitochondrial complex v deficiency, nuclear type 2 10.6
43 mitochondrial complex v deficiency, nuclear type 3 10.6
44 combined oxidative phosphorylation deficiency 12 10.6
45 combined oxidative phosphorylation deficiency 13 10.6
46 mitochondrial complex v deficiency, nuclear type 4 10.6
47 combined oxidative phosphorylation deficiency 16 10.6
48 combined oxidative phosphorylation deficiency 21 10.6
49 combined oxidative phosphorylation deficiency 22 10.6
50 combined oxidative phosphorylation deficiency 23 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:


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

Drugs & Therapeutics for Mitochondrial Disorders

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

(show top 50) (show all 189)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
3
Citalopram Approved Phase 4 59729-33-8 2771
4
Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58186-27-9
5 insulin Phase 4
6
Serotonin Phase 4 50-67-9 5202
7 Serotonin Agents Phase 4
8 Serotonin Uptake Inhibitors Phase 4
9 Muscarinic Antagonists Phase 4
10 Cholinergic Agents Phase 4,Phase 2,Phase 3
11 Cholinergic Antagonists Phase 4
12 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Early Phase 1
13 Neurotransmitter Uptake Inhibitors Phase 4
14 Vaccines Phase 4
15 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
16 Cytochrome P-450 Enzyme Inhibitors Phase 4
17 Parasympatholytics Phase 4
18 Dopamine Agents Phase 4
19 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
20 Dopamine Uptake Inhibitors Phase 4
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Early Phase 1
22 Anticholesteremic Agents Phase 4,Early Phase 1
23 Antidepressive Agents Phase 4
24 Antidepressive Agents, Second-Generation Phase 4
25 Hypolipidemic Agents Phase 4,Phase 2,Early Phase 1
26 Antimetabolites Phase 4,Phase 2,Early Phase 1
27 Insulin, Globin Zinc Phase 4
28 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 Lipid Regulating Agents Phase 4,Phase 2,Early Phase 1
30 Psychotropic Drugs Phase 4
31 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
32 Autonomic Agents Phase 4,Early Phase 1
33 Antiparkinson Agents Phase 4
34 Calcium, Dietary Phase 4,Early Phase 1
35 Atorvastatin Calcium Phase 4 134523-03-8
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,Phase 1 303-98-0 5281915
40 Ubiquinone Phase 3,Phase 2,Phase 1
41 Micronutrients Phase 3,Phase 2,Phase 1
42 Trace Elements Phase 3,Phase 2,Phase 1
43 Anesthetics Phase 3
44 Anti-Infective Agents Phase 3,Phase 2
45 Antirheumatic Agents Phase 3,Phase 2,Phase 1
46 Analgesics Phase 3,Phase 1,Phase 2
47 interferons Phase 3,Phase 2
48 Analgesics, Non-Narcotic Phase 3,Phase 1,Phase 2
49 Vitamins Phase 3,Phase 2,Phase 1
50 Hypoglycemic Agents Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 175)

# 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 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4 Idebenone
4 Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity Not yet recruiting NCT03351998 Phase 4 Lipitor 20Mg Tablet;Lipitor 80Mg Tablet;Placebo Oral Tablet
5 Phase III Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3 CoenzymeQ10;Placebo
6 STEADFAST Long-Term Safety Extension 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 A Trial to Evaluate the Safety and Efficacy of Elamipretide in Subjects With Primary Mitochondrial Myopathy Followed by an Open-Label Extension Recruiting NCT03323749 Phase 3
17 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4
18 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Recruiting NCT02616484 Phase 3 Dichloroacetate (DCA)
19 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
20 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
21 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 Not yet recruiting NCT03293524 Phase 3 Placebo
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 A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial Disease Completed NCT02473445 Phase 2 Cysteamine Bitartrate Delayed-release Capsules
30 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
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 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
38 A First in Human Study of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 RT001;RT001 comparator
39 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
40 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
41 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2 EPI-743
42 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
43 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2 L-Arginine
44 Efficacy Study of Epoetin Alfa in Friedreich Ataxia Completed NCT01493973 Phase 2 Epoetin alfa;Placebo
45 A Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
46 Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2 alpha-tocopherolquinone (A0001);alpha-tocopherolquinone (A0001);placebo
47 Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia Completed NCT01016366 Phase 2 Lu AA24493;Placebo
48 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
49 Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
50 Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia Completed NCT00824512 Phase 2 EGb 761 120 mg;Placebo

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 28 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
2 Mitochondrial Respiratory Chain Defects 28

Anatomical Context for Mitochondrial Disorders

MalaCards organs/tissues related to Mitochondrial Disorders:

38
Liver, Brain, Kidney, Testes, Lung, Spinal Cord, Heart

Publications for Mitochondrial Disorders

Articles related to Mitochondrial Disorders:

(show top 50) (show all 394)
# Title Authors Year
1
Headache in mitochondrial disorders. ( 29408771 )
2018
2
Frequency of Headache in Mitochondrial Disorders. ( 29411365 )
2018
3
Are patients affected by mitochondrial disorders at nutritional risk? ( 29429536 )
2018
4
Polycystic ovary syndrome in mitochondrial disorders due mtDNA or nDNA variants. ( 29422990 )
2018
5
Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations. ( 29272804 )
2018
6
Frequency of Headache in Mitochondrial Disorders: A Response. ( 29411368 )
2018
7
Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders. ( 29315169 )
2018
8
Biomarkers for Detecting Mitochondrial Disorders. ( 29385732 )
2018
9
In Reply: Death in Pediatric Mitochondrial Disorders. ( 28583703 )
2017
10
Mitochondrial disorders: The need for precision ultrastructural analysis in clinical diagnosis. ( 28230509 )
2017
11
Neurohumoral treatment for cardiac disease in dystrophinopathies and mitochondrial disorders. ( 28914564 )
2017
12
Hypogonadism in mitochondrial disorders. ( 28549633 )
2017
13
Hypertrophic cardiomyopathy in mitochondrial disorders: description of an uncommon clinical case. ( 28585276 )
2017
14
Use of the Ketogenic Diet to Treat Intractable Epilepsy in Mitochondrial Disorders. ( 28587136 )
2017
15
Mitochondrial disorders due to tRNA(Pro) mutations. ( 28554555 )
2017
16
Costs for mitochondrial medicine will remain high as long as mitochondrial disorders are misdiagnosed. ( 28819585 )
2017
17
A Critical Assessment of the Therapeutic Potential of Resveratrol Supplements for Treating Mitochondrial Disorders. ( 28906460 )
2017
18
Involvement of Mitochondrial Disorders in Septic Cardiomyopathy. ( 29201271 )
2017
19
Renal manifestations of primary mitochondrial disorders. ( 28515908 )
2017
20
A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders. ( 27885500 )
2017
21
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma. ( 28430993 )
2017
22
Migraine in mitochondrial disorders: Prevalence and characteristics. ( 28762753 )
2017
23
Growth-hormone deficiency in mitochondrial disorders. ( 28085676 )
2017
24
Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders. ( 28128857 )
2017
25
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders. ( 29159459 )
2017
26
Cerebral Manifestations of Mitochondrial Disorders. ( 29391077 )
2017
27
Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease. ( 29077060 )
2017
28
Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder. ( 28391286 )
2017
29
Gastrointestinal manifestations of mitochondrial disorders: a systematic review. ( 28286566 )
2017
30
Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders. ( 29062232 )
2017
31
Death in Pediatric Mitochondrial Disorders. ( 28479125 )
2017
32
Response to Growth hormone deficiency in mitochondrial disorders. ( 28315851 )
2017
33
Noncompaction in Mitochondrial Disorders. ( 29217715 )
2017
34
Mental illness in patients with inherited mitochondrial disorders. ( 28545943 )
2017
35
Phenotypic and genotypic features in pediatric and adult mitochondrial disorders. ( 28345132 )
2017
36
Mitochondrial disorders of the retinal ganglion cells and the optic nerve. ( 29054473 )
2017
37
Genetic Counselling for Maternally Inherited Mitochondrial Disorders. ( 28536827 )
2017
38
Treating mitochondrial disorders requires full exploitation of available therapeutic options. ( 29062713 )
2017
39
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. ( 27290639 )
2016
40
Emerging therapies for mitochondrial disorders. ( 27190030 )
2016
41
Myoclonic epilepsy in mitochondrial disorders. ( 27618766 )
2016
42
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. ( 27344648 )
2016
43
The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders. ( 28025489 )
2016
44
Spectrum of Movement Disorders in Mitochondrial Disorders. ( 27479845 )
2016
45
Ophthalmologic involvement in mitochondrial disorders. ( 27428825 )
2016
46
Spectrum of Movement Disorders in Mitochondrial Disorders-Reply. ( 27479912 )
2016
47
iPSCs, a Future Tool for Therapeutic Intervention in Mitochondrial Disorders: Pros and Cons. ( 27018482 )
2016
48
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies. ( 26968897 )
2016
49
When to Suspect and How to Diagnose Mitochondrial Disorders? ( 26759002 )
2016
50
Mitochondrial disorders in children: toward development of small-molecule treatment strategies. ( 26951622 )
2016

Variations for Mitochondrial Disorders

ClinVar genetic disease variations for Mitochondrial Disorders:

6 (show top 50) (show all 81)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TW m.5521G> A single nucleotide variant Pathogenic rs199474673 GRCh37 Chromosome MT, 5521: 5521
2 MT-TM m.4409T> C single nucleotide variant Pathogenic rs118203884 GRCh37 Chromosome MT, 4409: 4409
3 MT-TL2 m.12315G> A single nucleotide variant Pathogenic rs121434462 GRCh37 Chromosome MT, 12315: 12315
4 MT-TL2 m.12320A> G single nucleotide variant Pathogenic rs121434463 GRCh37 Chromosome MT, 12320: 12320
5 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
6 MT-TL1 m.3252A> G single nucleotide variant Pathogenic rs199474661 GRCh37 Chromosome MT, 3252: 3252
7 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh37 Chromosome MT, 14709: 14709
8 MT-TE m.14674T> C single nucleotide variant Pathogenic rs387906421 GRCh37 Chromosome MT, 14674: 14674
9 MT-TR m.10438A> G single nucleotide variant Pathogenic rs121434456 GRCh37 Chromosome MT, 10438: 10438
10 MT-TA m.5591G> A single nucleotide variant Pathogenic rs121434458 GRCh37 Chromosome MT, 5591: 5591
11 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
12 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
13 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
14 MT-CYB m.15242G> A single nucleotide variant Pathogenic rs207459999 GRCh37 Chromosome MT, 15242: 15242
15 MT-ND5; MT-TL1 m.13513G> A single nucleotide variant Pathogenic rs267606897 GRCh37 Chromosome MT, 13513: 13513
16 POLG NM_002693.2(POLG): c.2864A> G (p.Tyr955Cys) single nucleotide variant Pathogenic rs113994099 GRCh37 Chromosome 15, 89864114: 89864114
17 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
18 POLG NM_002693.2(POLG): c.3488T> G (p.Met1163Arg) single nucleotide variant Pathogenic rs113994100 GRCh37 Chromosome 15, 89860762: 89860762
19 POLG NM_002693.2(POLG): c.3630dupC (p.Gly1211Argfs) duplication Pathogenic rs113994101 GRCh37 Chromosome 15, 89860620: 89860620
20 POLG NM_002693.2(POLG): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs113994093 GRCh37 Chromosome 15, 89873472: 89873472
21 MT-TR m.10450A> G single nucleotide variant Pathogenic rs387906731 GRCh37 Chromosome MT, 10450: 10450
22 MT-TW m.5556G> A single nucleotide variant Pathogenic rs387906736 GRCh37 Chromosome MT, 5556: 5556
23 RRM2B NM_015713.4(RRM2B): c.950delT (p.Leu317Terfs) deletion Pathogenic rs515726199 GRCh37 Chromosome 8, 103220467: 103220467
24 OPA1 NM_015560.2(OPA1): c.1294A> G (p.Ile432Val) single nucleotide variant Pathogenic rs387906899 GRCh37 Chromosome 3, 193361398: 193361398
25 OPA1 NM_015560.2(OPA1): c.1635C> G (p.Ser545Arg) single nucleotide variant Pathogenic rs398124298 GRCh37 Chromosome 3, 193364899: 193364899
26 RMND1 NM_017909.3(RMND1): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs397515421 GRCh37 Chromosome 6, 151726922: 151726922
27 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397514610 GRCh37 Chromosome 6, 5369234: 5369234
28 MFF NM_020194.5(MFF): c.190C> T (p.Gln64Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514615 GRCh37 Chromosome 2, 228195493: 228195493
29 FBXL4 NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 GRCh37 Chromosome 6, 99323549: 99323549
30 RRM2B NM_015713.4(RRM2B): c.48G> A (p.Glu16=) single nucleotide variant Pathogenic rs515726180 GRCh37 Chromosome 8, 103251055: 103251055
31 RMND1 NM_017909.3(RMND1): c.1349G> C (p.Ter450Ser) single nucleotide variant Pathogenic rs115079861 GRCh37 Chromosome 6, 151726371: 151726371
32 MT-ATP6 NC_012920.1: m.8839G> C single nucleotide variant Pathogenic rs369202065 GRCh37 Chromosome MT, 8839: 8839
33 MT-TA NC_012920.1: m.5610G> A single nucleotide variant Pathogenic rs786200951 GRCh37 Chromosome MT, 5610: 5610
34 MT-TA NC_012920.1: m.5631G> A single nucleotide variant Pathogenic rs786200950 GRCh37 Chromosome MT, 5631: 5631
35 SPG7 NM_003119.3(SPG7): c.1672A> T (p.Lys558Ter) single nucleotide variant Pathogenic rs369227537 GRCh38 Chromosome 16, 89550502: 89550502
36 TWNK NM_021830.4(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 GRCh37 Chromosome 10, 102749042: 102749042
37 TWNK NM_021830.4(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 GRCh37 Chromosome 10, 102749109: 102749109
38 TWNK NM_021830.4(TWNK): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs28937887 GRCh37 Chromosome 10, 102748968: 102748968
39 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh37 Chromosome 3, 193384959: 193384962
40 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh37 Chromosome 3, 193361785: 193361785
41 SPG7 NM_003119.3(SPG7): c.861dupT (p.Asn288Terfs) duplication Pathogenic rs797046003 GRCh37 Chromosome 16, 89595987: 89595987
42 GFM2 NM_032380.4(GFM2): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic/Likely pathogenic rs761283105 GRCh37 Chromosome 5, 74043556: 74043556
43 GFER NM_005262.2(GFER): c.199delC (p.Arg67Glyfs) deletion Pathogenic/Likely pathogenic rs863224028 GRCh37 Chromosome 16, 2034418: 2034418
44 RMND1 NM_017909.3(RMND1): c.1317+1G> T single nucleotide variant Pathogenic rs886037773 GRCh37 Chromosome 6, 151726854: 151726854
45 RMND1 NM_017909.3(RMND1): c.1303C> T (p.Leu435Phe) single nucleotide variant Pathogenic rs886037771 GRCh37 Chromosome 6, 151726869: 151726869
46 RMND1 NM_017909.3(RMND1): c.830+1G> A single nucleotide variant Pathogenic rs773470671 GRCh37 Chromosome 6, 151748616: 151748616
47 RMND1 NM_017909.3(RMND1): c.631G> A (p.Val211Met) single nucleotide variant Pathogenic rs771894262 GRCh37 Chromosome 6, 151754348: 151754348
48 RMND1 NM_017909.3(RMND1): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs886037772 GRCh38 Chromosome 6, 151436494: 151436494
49 RMND1 NM_017909.3(RMND1): c.533C> A (p.Thr178Lys) single nucleotide variant Pathogenic rs370863743 GRCh37 Chromosome 6, 151757661: 151757661
50 TMEM126B NM_018480.5(TMEM126B): c.401delA (p.Asn134Ilefs) deletion Pathogenic rs886037835 GRCh37 Chromosome 11, 85346714: 85346714

Expression for Mitochondrial Disorders

Search GEO for disease gene expression data for Mitochondrial Disorders.

Pathways for Mitochondrial Disorders

Pathways related to Mitochondrial Disorders according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 MT-TA MT-TE MT-TL1 MT-TL2 MT-TM MT-TR
2 10.23 POLG RRM2B

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 inner membrane GO:0005743 9.56 MT-ATP6 MT-CO2 MT-CYB MT-ND5 OPA1 SLC25A4
2 mitochondrion GO:0005739 9.4 GFM2 MT-CO2 MT-CYB MT-ND5 OPA1 POLG
3 respiratory chain GO:0070469 9.33 MT-CO2 MT-CYB MT-ND5

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

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.63 MT-ATP6 OPA1 POLG
2 DNA replication GO:0006260 9.61 POLG RRM2B TWNK
3 mitochondrion organization GO:0007005 9.58 OPA1 SPG7 TWNK
4 cellular response to glucose stimulus GO:0071333 9.43 OPA1 POLG TWNK
5 regulation of mitochondrial membrane permeability GO:0046902 9.37 SLC25A4 SPG7
6 mitochondrial genome maintenance GO:0000002 9.32 OPA1 SLC25A4
7 ATP synthesis coupled electron transport GO:0042773 9.16 MT-CO2 MT-ND5
8 response to hyperoxia GO:0055093 9.13 MT-ATP6 MT-CYB POLG
9 mitochondrial DNA replication GO:0006264 8.8 POLG RRM2B TWNK

Sources for Mitochondrial Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
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41 MeSH
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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