Aliases & Classifications for Mitochondrial Disorders

MalaCards integrated aliases for Mitochondrial Disorders:

Name: Mitochondrial Disorders 23 24
Mitochondrial Encephalomyopathies 23 24 52 69
Mitochondrial Myopathies 23 24 52 69
Mitochondrial Diseases 29 52 41 69
Oxidative Phosphorylation Disorders 23 24
Respiratory Chain Disorders 23 24
Mitochondrial Myopathy 51 29
Mitochondrial Respiratory Chain Deficiencies 69
Respiratory Chain Deficiency 52

Classifications:



Summaries for Mitochondrial Disorders

MedlinePlus : 41 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 encephalomyopathies, is related to mitochondrial complex i deficiency and hsd10 mitochondrial disease, and has symptoms including macroglossia, muscular hypotonia and hyporeflexia. An important gene associated with Mitochondrial Disorders is MT-ATP6 (Mitochondrially Encoded ATP Synthase 6), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and tRNA Aminoacylation. The drugs Zinc and Bupropion have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and heart.

NINDS : 51 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.

Wikipedia : 72 Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles... more...

GeneReviews: NBK1224

Related Diseases for Mitochondrial Disorders

Diseases in the Mitochondrial Disorders family:

Rrm2b-Related Mitochondrial Disease

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

(show top 50) (show all 135)
id Related Disease Score Top Affiliating Genes
1 mitochondrial complex i deficiency 32.2 MT-ND1 MT-ND4 MT-ND5 TMEM126B
2 hsd10 mitochondrial disease 11.9
3 rrm2b-related mitochondrial disease 11.8
4 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.6
5 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 11.6
6 combined oxidative phosphorylation deficiency 3 11.3
7 chronic progressive external ophthalmoplegia 11.1
8 myopathy, lactic acidosis, and sideroblastic anemia 1 11.0
9 kearns-sayre syndrome 11.0
10 congenital pulmonary veins atresia or stenosis 10.9 MT-TL1 MT-TL2
11 myopathy, lactic acidosis, and sideroblastic anemia 2 10.9
12 mitochondrial dna depletion syndrome, mgme1-related 10.9 MT-ATP6 MT-TL1 MT-TL2
13 congenital fiber-type disproportion 10.9 MT-ATP6 MT-TK
14 gastric leiomyoma 10.8 MT-CYB MT-ND4
15 b9d2-related meckel syndrome 10.8 POLG SLC25A4
16 achalasia, familial esophageal 10.8 MT-CO2 MT-TK
17 sparganosis 10.8 MT-ND5 MT-TL1
18 leiner disease 10.8 MT-ND1 MT-ND4
19 charcot-marie-tooth disease, dominant intermediate f 10.7 MT-ND4 MT-TK POLG
20 enterocele 10.7 POLG SLC25A4
21 distal hereditary motor neuropathy type v 10.7 MT-TE MT-TK MT-TL1
22 reproductive system disease 10.7 MT-ATP6 MT-ND1
23 diabetes and deafness, maternally inherited 10.7
24 moved to {607459} 10.7 MT-TE MT-TK MT-TL1
25 extrapulmonary tuberculosis 10.7 MT-CYB MT-ND1
26 fetal akinesia deformation sequence 10.7 MT-CYB MT-TH
27 enchondromatosis dwarfism deafness 10.7 MT-ND1 MT-ND4 MT-ND5
28 histoplasmosis retinitis 10.7 MT-ND4 MT-TV MT-TW
29 functional diarrhea 10.7 MT-CYB MT-ND1
30 leukoencephalopathy, progressive, with ovarian failure 10.7 MT-TA MT-TL2 MT-TM MT-TW
31 allergic contact dermatitis of eyelid 10.7 MT-ND1 MT-ND4 MT-ND5
32 mhs3-related malignant hyperthermia susceptibility 10.7 MT-TH MT-TK MT-TL1
33 pleomorphic carcinoma 10.7 MT-ND1 MT-ND4 MT-ND5 POLG
34 mitochondrial dna depletion syndrome 12b ar 10.6
35 sengers syndrome 10.6
36 combined oxidative phosphorylation deficiency 24 10.6
37 mitochondrial dna depletion syndrome 11 10.6
38 mitochondrial myopathy, infantile, transient 10.6
39 myopathy, lactic acidosis, and sideroblastic anemia 3 10.6
40 dyscalculia 10.6 MT-TA MT-TK MT-TL2 POLG SLC25A4
41 clear cell sarcoma 10.6 MT-ATP6 MT-CYB MT-ND5 POLG SLC25A4
42 familial episodic pain syndrome 10.5 MT-CO2 MT-CYB
43 combined oxidative phosphorylation deficiency 21 10.5
44 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 10.5
45 combined oxidative phosphorylation deficiency 13 10.5
46 combined oxidative phosphorylation deficiency 25 10.5
47 combined oxidative phosphorylation deficiency 16 10.5
48 combined oxidative phosphorylation deficiency 28 10.5
49 orotic aciduria 10.5
50 mitochondrial dna depletion syndrome 14 10.5

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



Diseases related to Mitochondrial Disorders

Symptoms & Phenotypes for Mitochondrial Disorders

Human phenotypes related to Mitochondrial Disorders:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 muscular hypotonia 32 HP:0001252
3 hyporeflexia 32 HP:0001265
4 motor delay 32 HP:0001270
5 muscle weakness 32 HP:0001324
6 abnormality of metabolism/homeostasis 32 HP:0001939
7 hepatomegaly 32 HP:0002240
8 mitochondrial myopathy 32 HP:0003737

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 299)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 4,Phase 2,Phase 3 7440-66-6 32051 23994
2
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
3
Citalopram Approved Phase 4 59729-33-8 2771
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Bezafibrate Approved Phase 4,Phase 2 41859-67-0 39042
6
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
7
Stavudine Approved, Investigational Phase 4,Phase 2 3056-17-5 18283
8
Simvastatin Approved Phase 4 79902-63-9 54454
9
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
10
Lopinavir Approved Phase 4 192725-17-0 92727
11
Zidovudine Approved Phase 4 30516-87-1 35370
12
Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58186-27-9
13
Iron Approved Phase 4,Phase 1,Phase 2 7439-89-6 23925
14
Metformin Approved Phase 4,Phase 2 657-24-9 14219 4091
15
Copper Approved Phase 4 7440-50-8 27099
16
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
17 Tocopherol Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
18
Vitamin C Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1 50-81-7 5785 54670067
19
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 59-02-9 14985
20
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 59-30-3 6037
21
Riboflavin Approved, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
22
Thiamine Approved, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
23
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
24 insulin Phase 4,Phase 3
25 Insulin, Globin Zinc Phase 4,Phase 3
26 Dermatologic Agents Phase 4,Phase 2
27 Liver Extracts Phase 4,Phase 3,Phase 2
28 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
29 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
30 Vitamins Phase 4,Phase 2,Phase 3,Phase 1
31 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Tocopherols Phase 4,Phase 2,Phase 3,Phase 1
33 Tocotrienols Phase 4,Phase 2,Phase 3,Phase 1
34 Vaccines Phase 4
35 Antidepressive Agents Phase 4
36 Antidepressive Agents, Second-Generation Phase 4
37 Antiparkinson Agents Phase 4
38 Autonomic Agents Phase 4,Phase 1,Early Phase 1
39 Cholinergic Agents Phase 4,Phase 2,Phase 3,Phase 1
40 Cholinergic Antagonists Phase 4
41 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
42 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 1,Phase 2
43 Dopamine Agents Phase 4
44 Dopamine Uptake Inhibitors Phase 4
45 Muscarinic Antagonists Phase 4
46 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
47 Neurotransmitter Uptake Inhibitors Phase 4
48 Parasympatholytics Phase 4
49 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
50 Psychotropic Drugs Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 288)

id 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 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
4 Myocardial Dysfunction in Type 2 Diabetes Mellitus (T2DM) Completed NCT01588470 Phase 4 pioglitazone
5 Lactate Metabolism Study in HIV Infected Persons Completed NCT00202228 Phase 4 cofactor supplementation (thiamine, riboflavin, L-carnitine)
6 Living With Statins - The Impact of Cholesterol Lowering Drugs on Health, Lifestyle and Well-being Completed NCT02255682 Phase 4 Simvastatin
7 Seronegatives and Metabolic Abnormalities Protocol 2 (SAMA002): Study to Compare the Effect of Kaletra and Combivir® in HIV-Negative Healthy Subjects Completed NCT00192621 Phase 4 Combivir (zidovudine [AZT] / lamivudine [3TC]);Kaletra (lopinavir [LPVr])
8 Mitochondrial Oxidative Stress and Vascular Health in Chronic Kidney Disease Recruiting NCT02364648 Phase 4
9 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4 Idebenone
10 Living With Statins - Interventional Exercise Study Recruiting NCT02796378 Phase 4 Training+Simvastatin+Q10-placebo;Training+Simvastatin-placebo+Q10-placebo;Training+Simvastatin+Q10
11 Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With IBD Recruiting NCT02774057 Phase 4 Captafer®;Iron Sulfate
12 Effect of Metformin on Vascular and Mitochondrial Function in Type 1 Diabetes Active, not recruiting NCT01813929 Phase 4 Metformin;Placebo
13 Differences Between Stavudine and Tenofovir Each Combined With Lamivudine and Efavirenz in SA HIV-infected Patients Terminated NCT01601899 Phase 4 Stavudine;Stavudine;Tenofovir
14 Metformin for the Treatment of Nonalcoholic Fatty Liver Disease (NAFLD) Terminated NCT00736385 Phase 4 Glucophage (Metformin);Placebo
15 Effect of Micronutrients and Exercise During Pregnancy on Factors Related With Non-Transmissible Chronic Diseases Unknown status NCT00872365 Phase 2, Phase 3
16 Phase III Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3 CoenzymeQ10;Placebo
17 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
18 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3 idebenone;Placebo
19 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
20 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3 idebenone
21 Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3 Interferon γ-1b
22 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
23 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3 Idebenone;Placebo
24 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
25 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
26 STEADFAST Long-Term Safety Extension Completed NCT02797080 Phase 3 interferon γ-1b
27 Randomized Trial of a Nutritional Supplement in Alzheimer's Disease Completed NCT00678431 Phase 3
28 Sunphenon EGCg (Epigallocatechin-Gallate) in the Early Stage of Alzheimer´s Disease Completed NCT00951834 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
29 A Safety and Efficacy Study of Oral Dimebon in Patients With Mild-To-Moderate Alzheimer's Disease Completed NCT00675623 Phase 3 Dimebon;Dimebon;Placebo
30 The Effect Of Omega-3 Fatty Acids on Non-alcoholic Fatty Liver Disease Completed NCT01277237 Phase 3 Omacor;lactose tablet
31 Coenzyme Q10 in Relation of the Lipid Peroxidation, Antioxidant Enzyme Activities in Coronary Artery Disease Patients Completed NCT01163500 Phase 2, Phase 3
32 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4;normal saline
33 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Recruiting NCT02616484 Phase 3 Dichloroacetate (DCA)
34 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
35 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
36 Effects of Acipimox on Insulin Action, Vascular Function, and Muscle Function in Type 1 Diabetes Active, not recruiting NCT01816165 Phase 3 Acipimox;Placebo
37 A Trial to Evaluate the Safety and Efficacy of Elamipretide in Subjects With Primary Mitochondrial Myopathy Followed by an Open-Label Extension Not yet recruiting NCT03323749 Phase 3
38 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
39 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
40 Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E) Terminated NCT00712426 Phase 3 Creatine Monohydrate;Placebo
41 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
42 Trial of Kuvan in Lesch-Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3 sapropterin
43 Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome Unknown status NCT00068913 Phase 2 Dichloroacetate
44 The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease Unknown status NCT00457314 Phase 2
45 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency Unknown status NCT02640443 Phase 2 Sulfamethoxazole
46 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
47 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
48 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
49 A Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
50 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

Search NIH Clinical Center for Mitochondrial Disorders

Genetic Tests for Mitochondrial Disorders

Genetic tests related to Mitochondrial Disorders:

id Genetic test Affiliating Genes
1 Mitochondrial Diseases 29
2 Mitochondrial Myopathy 29
3 Mitochondrial Disorders 24 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TA MT-TC MT-TD MT-TF MT-TH MT-TL2 MT-TM MT-TQ MT-TR MT-TS2 MT-TT MT-TY MT-ATP6 MT-TK MT-TL1 MT-TS1 MT-TV MT-TW

Anatomical Context for Mitochondrial Disorders

MalaCards organs/tissues related to Mitochondrial Disorders:

39
Liver, Brain, Heart, Eye, Testes, Kidney, Endothelial

Publications for Mitochondrial Disorders

Articles related to Mitochondrial Disorders:

(show top 50) (show all 378)
id Title Authors Year
1
Gastrointestinal manifestations of mitochondrial disorders: a systematic review. ( 28286566 )
2017
2
Mitochondrial disorders due to tRNA(Pro) mutations. ( 28554555 )
2017
3
Growth-hormone deficiency in mitochondrial disorders. ( 28085676 )
2017
4
A Critical Assessment of the Therapeutic Potential of Resveratrol Supplements for Treating Mitochondrial Disorders. ( 28906460 )
2017
5
Phenotypic and genotypic features in pediatric and adult mitochondrial disorders. ( 28345132 )
2017
6
Migraine in mitochondrial disorders: Prevalence and characteristics. ( 28762753 )
2017
7
Mitochondrial disorders: The need for precision ultrastructural analysis in clinical diagnosis. ( 28230509 )
2017
8
Neurohumoral treatment for cardiac disease in dystrophinopathies and mitochondrial disorders. ( 28914564 )
2017
9
In Reply: Death in Pediatric Mitochondrial Disorders. ( 28583703 )
2017
10
Hypertrophic cardiomyopathy in mitochondrial disorders: description of an uncommon clinical case. ( 28585276 )
2017
11
Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders. ( 28128857 )
2017
12
A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders. ( 27885500 )
2017
13
Hypogonadism in mitochondrial disorders. ( 28549633 )
2017
14
Mental illness in patients with inherited mitochondrial disorders. ( 28545943 )
2017
15
Use of the Ketogenic Diet to Treat Intractable Epilepsy in Mitochondrial Disorders. ( 28587136 )
2017
16
Costs for mitochondrial medicine will remain high as long as mitochondrial disorders are misdiagnosed. ( 28819585 )
2017
17
Response to Growth hormone deficiency in mitochondrial disorders. ( 28315851 )
2017
18
Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder. ( 28391286 )
2017
19
Death in Pediatric Mitochondrial Disorders. ( 28479125 )
2017
20
Renal manifestations of primary mitochondrial disorders. ( 28515908 )
2017
21
Genetic Counselling for Maternally Inherited Mitochondrial Disorders. ( 28536827 )
2017
22
Prevalence of neoplasms in definite and probable mitochondrial disorders. ( 27181047 )
2016
23
Cerebral involvement in mitochondrial disorders on imaging. ( 27613634 )
2016
24
Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders. ( 27812541 )
2016
25
Mitochondrial disorders in children: toward development of small-molecule treatment strategies. ( 26951622 )
2016
26
Spectrum of Movement Disorders in Mitochondrial Disorders-Reply. ( 27479912 )
2016
27
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. ( 27665271 )
2016
28
Myoclonic epilepsy in mitochondrial disorders. ( 27618766 )
2016
29
The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders. ( 28025489 )
2016
30
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. ( 27290639 )
2016
31
Dilated cardiomyopathy and recurrent myorrhexis suggest mitochondrial disorder. ( 27594366 )
2016
32
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. ( 27995398 )
2016
33
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
34
When to Suspect and How to Diagnose Mitochondrial Disorders? ( 26759002 )
2016
35
Emerging therapies for mitochondrial disorders. ( 27190030 )
2016
36
Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders. ( 27271921 )
2016
37
Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset. ( 26909222 )
2016
38
Differential Mitochondrial Requirements for Radially and Non-radially Migrating Cortical Neurons: Implications for Mitochondrial Disorders. ( 27050514 )
2016
39
Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India. ( 26762927 )
2016
40
Spectrum of Movement Disorders in Mitochondrial Disorders. ( 27479845 )
2016
41
iPSCs, a Future Tool for Therapeutic Intervention in Mitochondrial Disorders: Pros and Cons. ( 27018482 )
2016
42
Ophthalmologic involvement in mitochondrial disorders. ( 27428825 )
2016
43
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies. ( 26968897 )
2016
44
NFU1 gene mutation and mitochondrial disorders. ( 27381105 )
2016
45
Mapping Key Residues of ISD11 Critical for NFS1-ISD11 Subcomplex Stability: IMPLICATIONS IN THE DEVELOPMENT OF MITOCHONDRIAL DISORDER, COXPD19. ( 26342079 )
2015
46
Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India. ( 26341968 )
2015
47
O035. Headaches in Mitochondrial Disorders. ( 28132320 )
2015
48
Cyclic vomiting syndrome in multisystem mitochondrial disorder. ( 26757496 )
2015
49
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. ( 25658047 )
2015
50
Impaired Hearing in Mitochondrial Disorders. ( 26112732 )
2015

Variations for Mitochondrial Disorders

ClinVar genetic disease variations for Mitochondrial Disorders:

6 (show top 50) (show all 54)
id 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.3488T> G (p.Met1163Arg) single nucleotide variant Pathogenic rs113994100 GRCh37 Chromosome 15, 89860762: 89860762
17 POLG NM_002693.2(POLG): c.3630dupC (p.Gly1211Argfs) duplication Pathogenic rs113994101 GRCh37 Chromosome 15, 89860620: 89860620
18 POLG NM_002693.2(POLG): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs113994093 GRCh37 Chromosome 15, 89873472: 89873472
19 MT-TW m.5556G> A single nucleotide variant Pathogenic rs387906736 GRCh37 Chromosome MT, 5556: 5556
20 MT-TR m.10450A> G single nucleotide variant Pathogenic rs387906731 GRCh37 Chromosome MT, 10450: 10450
21 RMND1 NM_017909.3(RMND1): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs397515421 GRCh37 Chromosome 6, 151726922: 151726922
22 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397514610 GRCh37 Chromosome 6, 5369234: 5369234
23 MFF NM_020194.5(MFF): c.190C> T (p.Gln64Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514615 GRCh37 Chromosome 2, 228195493: 228195493
24 FBXL4 NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 GRCh37 Chromosome 6, 99323549: 99323549
25 RMND1 NM_017909.3(RMND1): c.1349G> C (p.Ter450Ser) single nucleotide variant Pathogenic rs115079861 GRCh37 Chromosome 6, 151726371: 151726371
26 MT-ATP6 NC_012920.1: m.8839G> C single nucleotide variant Pathogenic rs369202065 GRCh37 Chromosome MT, 8839: 8839
27 MT-TA NC_012920.1: m.5610G> A single nucleotide variant Pathogenic rs786200951 GRCh37 Chromosome MT, 5610: 5610
28 MT-TA NC_012920.1: m.5631G> A single nucleotide variant Pathogenic rs786200950 GRCh37 Chromosome MT, 5631: 5631
29 RMND1 NM_017909.3(RMND1): c.1317+1G> T single nucleotide variant Pathogenic rs886037773 GRCh37 Chromosome 6, 151726854: 151726854
30 RMND1 NM_017909.3(RMND1): c.1303C> T (p.Leu435Phe) single nucleotide variant Pathogenic rs886037771 GRCh37 Chromosome 6, 151726869: 151726869
31 RMND1 NM_017909.3(RMND1): c.830+1G> A single nucleotide variant Pathogenic rs773470671 GRCh37 Chromosome 6, 151748616: 151748616
32 RMND1 NM_017909.3(RMND1): c.631G> A (p.Val211Met) single nucleotide variant Pathogenic rs771894262 GRCh37 Chromosome 6, 151754348: 151754348
33 RMND1 NM_017909.3(RMND1): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs886037772 GRCh38 Chromosome 6, 151436494: 151436494
34 RMND1 NM_017909.3(RMND1): c.533C> A (p.Thr178Lys) single nucleotide variant Pathogenic rs370863743 GRCh37 Chromosome 6, 151757661: 151757661
35 TMEM126B NM_018480.5(TMEM126B): c.401delA (p.Asn134Ilefs) deletion Pathogenic rs886037835 GRCh37 Chromosome 11, 85346714: 85346714
36 TMEM126B NM_018480.5(TMEM126B): c.635G> T (p.Gly212Val) single nucleotide variant Pathogenic rs141542003 GRCh37 Chromosome 11, 85347215: 85347215
37 SLC25A4 NM_001151.3(SLC25A4): c.239G> A (p.Arg80His) single nucleotide variant Pathogenic/Likely pathogenic rs886041081 GRCh38 Chromosome 4, 185144891: 185144891
38 SLC25A4 NM_001151.3(SLC25A4): c.703C> G (p.Arg235Gly) single nucleotide variant Pathogenic rs886041082 GRCh38 Chromosome 4, 185145863: 185145863
39 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1: m.10106_15067del4962 deletion Pathogenic GRCh37 Chromosome MT, 10106: 15067
40 MT-CYB; MT-ND4; MT-ND5; MT-ND6; MT-TE; MT-TH; MT-TL2; MT-TS2 NC_012920.1: m.11263_15374del4112 deletion Pathogenic GRCh37 Chromosome MT, 11263: 15374
41 MT-ND4; MT-ND5; MT-ND6; MT-TH; MT-TL2; MT-TS2 NC_012920.1: m.12114_14420del2307 deletion Pathogenic GRCh37 Chromosome MT, 12114: 14420
42 MT-TL2 NC_012920.1: m.12271T> C single nucleotide variant Pathogenic rs1131692061 GRCh37 Chromosome MT, 12271: 12271
43 MT-TL2 NC_012920.1: m.12283G> A single nucleotide variant Pathogenic rs1131692062 GRCh37 Chromosome MT, 12283: 12283
44 MT-ND5 NC_012920.1: m.13051G> A single nucleotide variant Pathogenic rs1131692063 GRCh37 Chromosome MT, 13051: 13051
45 covers 13 genes, none of which curated to show dosage sensitivity NC_012920.1: m.6003_11220del5218 deletion Pathogenic GRCh37 Chromosome MT, 6003: 11220
46 covers 20 genes, none of which curated to show dosage sensitivity NC_012920.1: m.6469_15587del9119 deletion Pathogenic GRCh37 Chromosome MT, 6469: 15587
47 covers 17 genes, none of which curated to show dosage sensitivity NC_012920.1: m.7129_13991del6863 deletion Pathogenic GRCh37 Chromosome MT, 7129: 13991
48 MT-ATP6; MT-ATP8; MT-CO2; MT-CO3; MT-ND3; MT-ND4; MT-ND4L; MT-TG; MT-TK; MT-TR NC_012920.1: m.7730_11255del3526 deletion Pathogenic GRCh37 Chromosome MT, 7730: 11255
49 MT-CO2 NC_012920.1: m.7989T> C single nucleotide variant Pathogenic rs1131692064 GRCh37 Chromosome MT, 7989: 7989
50 covers 13 genes, none of which curated to show dosage sensitivity NC_012920.1: m.8290_13040del4751 deletion Pathogenic GRCh37 Chromosome MT, 8290: 13040

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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.81 MT-CO2 MT-CYB MT-ND1 MT-ND4 MT-ND5 POLG
2 mitochondrial inner membrane GO:0005743 9.56 MT-ATP6 MT-CO2 MT-CYB MT-ND1 MT-ND4 MT-ND5
3 mitochondrial membrane GO:0031966 9.5 MT-ND1 MT-ND4 TMEM126B
4 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND1 MT-ND4 MT-ND5
5 respiratory chain GO:0070469 9.02 MT-CO2 MT-CYB MT-ND1 MT-ND4 MT-ND5

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.72 MT-CO2 MT-CYB MT-ND1 MT-ND4 MT-ND5
2 aging GO:0007568 9.58 MT-ATP6 MT-ND4 POLG
3 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.43 MT-ND1 MT-ND4 MT-ND5
4 response to organonitrogen compound GO:0010243 9.37 MT-CYB MT-ND5
5 response to hyperoxia GO:0055093 9.33 MT-ATP6 MT-CYB POLG
6 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 MT-ND1 MT-ND4 MT-ND5 TMEM126B
7 ATP synthesis coupled electron transport GO:0042773 8.8 MT-CO2 MT-ND4 MT-ND5

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.35 MT-CO2 MT-CYB MT-ND1 MT-ND4 MT-ND5
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND1 MT-ND4 MT-ND5

Sources for Mitochondrial Disorders

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