Aliases & Classifications for Mitochondrial Disorders

Aliases & Descriptions for Mitochondrial Disorders:

Name: Mitochondrial Disorders 23 24 29
Mitochondrial Encephalomyopathies 23 24 52 69
Mitochondrial Myopathies 23 24 52 69
Mitochondrial Diseases 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 rrm2b-related mitochondrial disease and mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia, and has symptoms including muscle weakness, muscular hypotonia and macroglossia. An important gene associated with Mitochondrial Disorders is MT-TW (Mitochondrially Encoded TRNA Tryptophan), and among its related pathways/superpathways are GABAergic synapse and tRNA Aminoacylation. The drugs Ethanol and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye 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 : 71 Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, the organelles that... 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 125)
id Related Disease Score Top Affiliating Genes
1 rrm2b-related mitochondrial disease 11.8
2 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.6
3 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 11.6
4 combined oxidative phosphorylation deficiency 3 11.2
5 chronic progressive external ophthalmoplegia 11.1
6 mitochondrial myopathy and sideroblastic anemia 1 11.0
7 kearns-sayre syndrome 11.0
8 myopathy, lactic acidosis, and sideroblastic anemia 2 10.9
9 mitochondrial complex i deficiency 10.9
10 diabetes and deafness, maternally inherited 10.8
11 mitochondrial dna depletion syndrome 12 10.7
12 mitochondrial dna depletion syndrome 11 10.7
13 sengers syndrome 10.7
14 combined oxidative phosphorylation deficiency 24 10.7
15 mitochondrial myopathy, infantile, transient 10.7
16 myopathy, lactic acidosis, and sideroblastic anemia 3 10.7
17 combined oxidative phosphorylation deficiency 22 10.5
18 mitochondrial complex v deficiency, mitochondrial 2 10.5
19 combined oxidative phosphorylation deficiency 23 10.5
20 multiple mitochondrial dysfunctions syndrome 10.5
21 mitochondrial dna depletion syndrome 14, cardioencephalomyopathic type 10.5
22 combined oxidative phosphorylation deficiency 19 10.5
23 mitochondrial dna depletion syndrome 12a, cardiomyopathic type 10.5
24 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 10.5
25 mitochondrial dna depletion syndrome 15, hepatocerebral type 10.5
26 mitochondrial complex v deficiency, nuclear type 2 10.5
27 nephronophthisis-like nephropathy 1 10.5
28 17-beta-hydroxysteroid dehydrogenase x deficiency 10.5
29 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.5
30 combined oxidative phosphorylation deficiency 21 10.5
31 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 10.5
32 combined oxidative phosphorylation deficiency 26 10.5
33 combined oxidative phosphorylation deficiency 13 10.5
34 neonatal severe cardiopulmonary failure due to mitochondrial methylation defect 10.5
35 mitochondrial complex iii deficiency, nuclear type 5 10.5
36 combined oxidative phosphorylation deficiency 25 10.5
37 mitochondrial complex v deficiency, nuclear type 1 10.5
38 combined oxidative phosphorylation defect type 27 10.5
39 combined oxidative phosphorylation deficiency 16 10.5
40 mitochondrial complex v deficiency, mitochondrial 1 10.5
41 mitochondrial complex deficiency, nuclear type 4 10.5
42 door syndrome 10.4 MT-TL1 POLG
43 megalencephalic leukoencephalopathy with subcortical cysts 10.4 MT-TK POLG
44 dsg2-related dilated cardiomyopathy 10.4 MT-TK MT-TL1
45 lentigo maligna melanoma 10.4 MT-ND1 MT-ND4 MT-ND6
46 growth hormone deficiency, isolated partial 10.4 MT-ND4 MT-TK POLG
47 levy-shanske syndrome 10.3 MT-TL1 POLG
48 histoplasmosis retinitis 10.3 MT-ND4 MT-TV MT-TW
49 enteropathica 10.3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
50 syphilitic encephalitis 10.3 MT-ND5 MT-TL1 MT-TS2

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 muscle weakness 32 HP:0001324
2 muscular hypotonia 32 HP:0001252
3 macroglossia 32 HP:0000158
4 hepatomegaly 32 HP:0002240
5 abnormality of metabolism/homeostasis 32 HP:0001939
6 mitochondrial myopathy 32 HP:0003737
7 hyporeflexia 32 HP:0001265
8 motor delay 32 HP:0001270

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 423)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
3
Bezafibrate Approved Phase 4,Phase 3,Phase 2 41859-67-0 39042
4
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
5
Zinc Approved Phase 4,Phase 2,Phase 3 7440-66-6 32051 23994
6
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
7
Lopinavir Approved Phase 4 192725-17-0 92727
8
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
9
Nevirapine Approved Phase 4 129618-40-2 4463
10
Iron Approved Phase 4,Phase 1,Phase 2 7439-89-6 23925
11
Zidovudine Approved Phase 4,Phase 2 30516-87-1 35370
12
Tenofovir Approved, Investigational Phase 4,Phase 2 147127-20-6 464205
13
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
14
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
15
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
16
Benzocaine Approved Phase 4,Phase 2 1994-09-7, 94-09-7 2337
17
Menthol Approved Phase 4,Phase 3 2216-51-5 16666
18
Simvastatin Approved Phase 4,Phase 3,Phase 2 79902-63-9 54454
19
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
20
Nitroglycerin Approved, Investigational Phase 4,Phase 1 55-63-0 4510
21
Acetylcholine Approved Phase 4,Phase 1 51-84-3 187
22
Copper Approved Phase 4,Phase 2 15158-11-9, 7440-50-8 27099
23
Stavudine Approved, Investigational Phase 4,Phase 2,Phase 3 3056-17-5 18283
24
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
25
Citalopram Approved Phase 4 59729-33-8 2771
26
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
27 Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58186-27-9
28
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 1 616-91-1 12035
29
Linagliptin Approved Phase 4 668270-12-0 10096344
30
Nitroprusside Approved Phase 4,Phase 1 15078-28-1 11963622
31
Ramipril Approved Phase 4 87333-19-5 5362129
32
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
33
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
34
Lenograstim Approved Phase 4 135968-09-1
35
Pravastatin Approved Phase 4 81093-37-0 54687
36
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
37
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
38
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
39
Vitamin C Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1 50-81-7 5785 54670067
40 tannic acid Approved, Nutraceutical Phase 4,Phase 2
41
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 59-02-9 14985
42
Choline Approved, Nutraceutical Phase 4,Phase 1 62-49-7 305
43
Pyruvate Approved, Nutraceutical Phase 4,Phase 3
44
Riboflavin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 83-88-5 493570
45
Thiamine Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-43-8 1130
46
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 59-30-3 6037
47
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
48
acetic acid Approved, Nutraceutical Phase 4 64-19-7 176
49 Ubiquinone Phase 4,Phase 3,Phase 2,Phase 1
50 insulin Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 614)
id Name Status NCT ID Phase
1 Thyroid Study Type 2 Diabetes Mellitus (T2DM) Unknown status NCT01379170 Phase 4
2 Pilot Study of Lovaza (Omega 3 Fatty Acids) to Improve Cardiac Antioxidant/Anti-inflammatory Profile Before Cardiac Surgery Unknown status NCT01046604 Phase 4
3 Effect Of Intravenous Iron Versus Placebo On Muscle Oxidative Capacity And Physical Performance In Non Anemic Premenopausal Women With Low Ferritin Levels Unknown status NCT01374776 Phase 4
4 Effects of 2 Initial Standard Antiretroviral Combinations Therapies on Lipid Metabolism Unknown status NCT00759070 Phase 4
5 German Diabetes-Diet-Intervention and Energy Restriction-Trial (DDIET) Unknown status NCT01409330 Phase 4
6 MEDICLAS Study (Metabolic Effects of Different Classes of AntiretroviralS) Unknown status NCT00122226 Phase 4
7 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
8 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4
9 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4
10 Myocardial Dysfunction in Type 2 Diabetes Mellitus (T2DM) Completed NCT01588470 Phase 4
11 Lactate Metabolism Study in HIV Infected Persons Completed NCT00202228 Phase 4
12 Living With Statins - The Impact of Cholesterol Lowering Drugs on Health, Lifestyle and Well-being Completed NCT02255682 Phase 4
13 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
14 Effect of Gender and HIV Infection on Zidovudine and Lamivudine Pharmacokinetics Completed NCT01386970 Phase 4
15 Protective Effects of L-arginine During Reperfusion by Femoropopliteal Bypass for Lower Limb Ischemic Syndrome in Humans Completed NCT02117206 Phase 4
16 "TAKE TIME" Pioglitazone Reverses Defects in Mitochondrial Biogenesis in Patients With T2DM Completed NCT00402012 Phase 4
17 The Effect of Linagliptin on Mitochondrial and Endothelial Function Completed NCT01969084 Phase 4
18 Coenzyme Q10 in Older Athletes Treated With Statin Medications Completed NCT01026311 Phase 4
19 Study on the Effect of Kaletra + Nevirapine as Maintenance Bitherapy Compared to a Triple Therapy Including Kaletra + Analogues in HIV Patients Completed NCT00335686 Phase 4
20 Metabolic Effects of Enfuvirtide in Healthy Volunteers Completed NCT00657761 Phase 4
21 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4
22 Living With Statins - Interventional Exercise Study Recruiting NCT02796378 Phase 4
23 Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With IBD Recruiting NCT02774057 Phase 4
24 G-CSF Plus NAC In Severe Alcoholic Hepatitis Recruiting NCT02971306 Phase 4
25 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT03046693 Phase 4
26 Ramipril Treatment of Claudication Recruiting NCT02842424 Phase 4
27 Sildenafil Activates Browning of White Adipose and Improves Insulin Sensitivity Recruiting NCT02524184 Phase 4
28 Dexmedetomidine Effect on Mitochondrial Function Recruiting NCT02299063 Phase 4
29 Carnitine, Aclycarnitine, Myocardial Function, and CRRT Recruiting NCT01941823 Phase 4
30 Differential Gene Expression in Patients With Heart Failure and Iron Deficiency - Effects of Ferric Carboxymaltose Recruiting NCT01978028 Phase 4
31 Assessment of Changes in Metabolic Activity in Liver & Skeletal Muscle in Patients Suffering From Acromegaly Recruiting NCT02115906 Phase 4
32 Effect of Metformin on Vascular and Mitochondrial Function in Type 1 Diabetes Active, not recruiting NCT01813929 Phase 4
33 ACTIV- Exercise Intervention in Healthy Young Men Active, not recruiting NCT00401791 Phase 4
34 Role of Preoperative Carbohydrates Drinks, Dichloroacetate and Exercise on Postoperative Muscle Insulin Resistance Active, not recruiting NCT02469337 Phase 4
35 Mitochondrial Oxidative Stress and Vascular Health in Chronic Kidney Disease Not yet recruiting NCT02364648 Phase 4
36 Neotililty Trial: Effect of Coenzyme Q10 on Semen Parameters in Men With Idiopathic Infertility Not yet recruiting NCT03104998 Phase 4
37 Differences Between Stavudine and Tenofovir Each Combined With Lamivudine and Efavirenz in SA HIV-infected Patients Terminated NCT01601899 Phase 4
38 Metformin for the Treatment of Nonalcoholic Fatty Liver Disease (NAFLD) Terminated NCT00736385 Phase 4
39 Switching From Efavirenz to Atazanavir/ Ritonavir in HIV-infected Subjects With Good Virologic Suppression Terminated NCT01194856 Phase 4
40 Safety Study of Ciclopirox Olamine Cream for Dermatomycoses in Children Terminated NCT01646580 Phase 4
41 Evaluation of Myocardial Improvement in Patients Supported by Ventricular Assist Device Under Optimal Pharmacological Therapy Terminated NCT00402376 Phase 4
42 Evaluation of the Occurrence of Lipoatrophy in HIV-1 Infected Naive Patients Terminated NCT00122668 Phase 4
43 Effect of Micronutrients and Exercise During Pregnancy on Factors Related With Non-Transmissible Chronic Diseases Unknown status NCT00872365 Phase 2, Phase 3
44 Oxygen Therapy in Schizophrenia Unknown status NCT00525863 Phase 3
45 Bezafibrate Trial in CPT2 Deficiency Unknown status NCT00336167 Phase 3
46 Ciclosporin A and Acute Myocardial Infarction Unknown status NCT00403728 Phase 2, Phase 3
47 L-arginine and Brown Adipose Tissue Unknown status NCT02291458 Phase 3
48 Phase III Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3
49 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3
50 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3

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
Brain, Eye, Heart, Liver, Skeletal Muscle, Kidney, Testes

Publications for Mitochondrial Disorders

Articles related to Mitochondrial Disorders:

(show top 50) (show all 358)
id Title Authors Year
1
Growth-hormone deficiency in mitochondrial disorders. ( 28085676 )
2017
2
A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders. ( 27885500 )
2017
3
Spectrum of Movement Disorders in Mitochondrial Disorders-Reply. ( 27479912 )
2016
4
NFU1 gene mutation and mitochondrial disorders. ( 27381105 )
2016
5
Cerebral involvement in mitochondrial disorders on imaging. ( 27613634 )
2016
6
Prevalence of neoplasms in definite and probable mitochondrial disorders. ( 27181047 )
2016
7
Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset. ( 26909222 )
2016
8
Mitochondrial disorders in children: toward development of small-molecule treatment strategies. ( 26951622 )
2016
9
Emerging therapies for mitochondrial disorders. ( 27190030 )
2016
10
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. ( 27665271 )
2016
11
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies. ( 26968897 )
2016
12
Spectrum of Movement Disorders in Mitochondrial Disorders. ( 27479845 )
2016
13
Ophthalmologic involvement in mitochondrial disorders. ( 27428825 )
2016
14
Myoclonic epilepsy in mitochondrial disorders. ( 27618766 )
2016
15
Differential Mitochondrial Requirements for Radially and Non-radially Migrating Cortical Neurons: Implications for Mitochondrial Disorders. ( 27050514 )
2016
16
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. ( 27290639 )
2016
17
Dilated cardiomyopathy and recurrent myorrhexis suggest mitochondrial disorder. ( 27594366 )
2016
18
When to Suspect and How to Diagnose Mitochondrial Disorders? ( 26759002 )
2016
19
iPSCs, a Future Tool for Therapeutic Intervention in Mitochondrial Disorders: Pros and Cons. ( 27018482 )
2016
20
Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders. ( 27812541 )
2016
21
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
22
Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India. ( 26762927 )
2016
23
The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders. ( 28025489 )
2016
24
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. ( 27995398 )
2016
25
Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders. ( 27271921 )
2016
26
Skeletal muscle increases FGF21 expression in mitochondrial disorders to compensate for energy metabolic insufficiency by activating the mTOR-YY1-PGC1I+ pathway. ( 25843656 )
2015
27
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. ( 25539947 )
2015
28
Haematological abnormalities in mitochondrial disorders. ( 26243978 )
2015
29
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. ( 25658047 )
2015
30
Emerging aspects of treatment in mitochondrial disorders. ( 25962587 )
2015
31
Keep the fire burning: Current avenues in the quest of treating mitochondrial disorders. ( 26134435 )
2015
32
Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India. ( 26341968 )
2015
33
Mitochondrial disorders with cardiac dysfunction: an under-reported aetiology with phenotypic heterogeneity. ( 26314685 )
2015
34
Mitochondrial disorders: disease mechanisms and therapeutic approaches. ( 26645904 )
2015
35
Mitochondrial disorders: Challenges in diagnosis & treatment. ( 25857492 )
2015
36
Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis. ( 25636970 )
2015
37
Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders. ( 26463265 )
2015
38
Magnetic resonance spectroscopy of the ischemic brain under lithium treatment. Link to mitochondrial disorders under stroke. ( 26079057 )
2015
39
Therapeutic strategies for mitochondrial disorders. ( 25701186 )
2015
40
Glucocorticoids for mitochondrial disorders. ( 25715858 )
2015
41
Impaired Hearing in Mitochondrial Disorders. ( 26112732 )
2015
42
The Eye on Mitochondrial Disorders. ( 26275973 )
2015
43
Can folic acid have a role in mitochondrial disorders? ( 26183769 )
2015
44
Cyclic vomiting syndrome in multisystem mitochondrial disorder. ( 26757496 )
2015
45
Evidence for caspase-dependent programmed cell death along with repair processes in affected skeletal muscle in patients with mitochondrial disorders. ( 26527739 )
2015
46
Mapping Key Residues of ISD11 Critical for NFS1-ISD11 Subcomplex Stability: IMPLICATIONS IN THE DEVELOPMENT OF MITOCHONDRIAL DISORDER, COXPD19. ( 26342079 )
2015
47
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. ( 25597511 )
2015
48
Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders. ( 26214044 )
2015
49
Myoclonus in mitochondrial disorders. ( 24510442 )
2014
50
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. ( 25526709 )
2014

Variations for Mitochondrial Disorders

ClinVar genetic disease variations for Mitochondrial Disorders:

6 (show all 28)
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.3252A> G single nucleotide variant Pathogenic rs199474661 GRCh37 Chromosome MT, 3252: 3252
6 MT-TR m.10438A> G single nucleotide variant Pathogenic rs121434456 GRCh37 Chromosome MT, 10438: 10438
7 MT-TA m.5591G> A single nucleotide variant Pathogenic rs121434458 GRCh37 Chromosome MT, 5591: 5591
8 MT-CYB m.15242G> A single nucleotide variant Pathogenic rs207459999 GRCh37 Chromosome MT, 15242: 15242
9 POLG NM_002693.2(POLG): c.3488T> G (p.Met1163Arg) single nucleotide variant Pathogenic rs113994100 GRCh37 Chromosome 15, 89860762: 89860762
10 POLG NM_002693.2(POLG): c.3630dupC (p.Gly1211Argfs) duplication Pathogenic rs113994101 GRCh37 Chromosome 15, 89860620: 89860620
11 POLG NM_002693.2(POLG): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs113994093 GRCh37 Chromosome 15, 89873472: 89873472
12 MT-TR m.10450A> G single nucleotide variant Pathogenic rs387906731 GRCh37 Chromosome MT, 10450: 10450
13 MT-TW m.5556G> A single nucleotide variant Pathogenic rs387906736 GRCh37 Chromosome MT, 5556: 5556
14 RMND1 NM_017909.3(RMND1): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs397515421 GRCh37 Chromosome 6, 151726922: 151726922
15 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397514610 GRCh37 Chromosome 6, 5369234: 5369234
16 MFF NM_020194.5(MFF): c.190C> T (p.Gln64Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514615 GRCh37 Chromosome 2, 228195493: 228195493
17 FBXL4 NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 GRCh37 Chromosome 6, 99323549: 99323549
18 RMND1 NM_017909.3(RMND1): c.1349G> C (p.Ter450Ser) single nucleotide variant Pathogenic rs115079861 GRCh37 Chromosome 6, 151726371: 151726371
19 MT-TA NC_012920.1: m.5610G> A single nucleotide variant Pathogenic rs786200951 GRCh37 Chromosome MT, 5610: 5610
20 MT-TA NC_012920.1: m.5631G> A single nucleotide variant Pathogenic rs786200950 GRCh37 Chromosome MT, 5631: 5631
21 RMND1 NM_017909.3(RMND1): c.1317+1G> T single nucleotide variant Pathogenic rs886037773 GRCh37 Chromosome 6, 151726854: 151726854
22 RMND1 NM_017909.3(RMND1): c.1303C> T (p.Leu435Phe) single nucleotide variant Pathogenic rs886037771 GRCh37 Chromosome 6, 151726869: 151726869
23 RMND1 NM_017909.3(RMND1): c.830+1G> A single nucleotide variant Pathogenic rs773470671 GRCh37 Chromosome 6, 151748616: 151748616
24 RMND1 NM_017909.3(RMND1): c.631G> A (p.Val211Met) single nucleotide variant Pathogenic rs771894262 GRCh37 Chromosome 6, 151754348: 151754348
25 RMND1 NM_017909.3(RMND1): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs886037772 GRCh38 Chromosome 6, 151436494: 151436494
26 RMND1 NM_017909.3(RMND1): c.533C> A (p.Thr178Lys) single nucleotide variant Pathogenic rs370863743 GRCh37 Chromosome 6, 151757661: 151757661
27 TMEM126B NM_018480.5(TMEM126B): c.401delA (p.Asn134Ilefs) deletion Pathogenic rs886037835 GRCh37 Chromosome 11, 85346714: 85346714
28 TMEM126B NM_018480.5(TMEM126B): c.635G> T (p.Gly212Val) single nucleotide variant Pathogenic rs141542003 GRCh37 Chromosome 11, 85347215: 85347215

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.77 MT-ND1 MT-ND4 MT-ND5 MT-ND6
2
Show member pathways
11.64 MT-TA MT-TC MT-TF MT-TK MT-TL1 MT-TL2

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 mitochondrial membrane GO:0031966 9.46 MT-ND1 MT-ND4 MT-ND6 TMEM126B
2 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND1 MT-ND4 MT-ND5
3 mitochondrial inner membrane GO:0005743 9.43 MT-ATP6 MT-ND1 MT-ND4 MT-ND5 MT-ND6 TMEM126B
4 respiratory chain GO:0070469 8.92 MT-ND1 MT-ND4 MT-ND5 MT-ND6

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

id Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.5 MT-ATP6 MT-ND4 POLG
2 response to nicotine GO:0035094 9.37 MT-ND4 MT-ND6
3 response to hyperoxia GO:0055093 9.26 MT-ATP6 POLG
4 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.26 MT-ND1 MT-ND4 MT-ND5 MT-ND6
5 ATP synthesis coupled electron transport GO:0042773 9.16 MT-ND4 MT-ND5
6 mitochondrial respiratory chain complex I assembly GO:0032981 9.02 MT-ND1 MT-ND4 MT-ND5 MT-ND6 TMEM126B

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

id Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND1 MT-ND4 MT-ND5 MT-ND6

Sources for Mitochondrial Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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