Aliases & Classifications for Mitochondrial Disorders

MalaCards integrated aliases for Mitochondrial Disorders:

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

Classifications:



External Ids:

KEGG 37 H01427

Summaries for Mitochondrial Disorders

MedlinePlus : 43 Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process. Mitochondrial diseases are a group of metabolic disorders. Mitochondria are small structures that produce energy in almost all of your cells. They make it by combining oxygen with the fuel molecules (sugars and fats) that come from your food. When the mitochondria are defective, the cells do not have enough energy. The unused oxygen and fuel molecules build up in the cells and cause damage. The symptoms of mitochondrial disease can vary. It depends on how many mitochondria are defective, and where they are in the body. Sometimes only one organ, tissue, or cell type is affected. But often the problem affects many of them. Muscle and nerve cells have especially high energy needs, so muscular and neurological problems are common. The diseases range from mild to severe. Some types can be fatal. Genetic mutations cause these diseases. They usually happen before age 20, and some are more common in infants. There are no cures for these diseases, but treatments may help with symptoms and slow down the disease. They may include physical therapy, vitamins and supplements, special diets, and medicines.

MalaCards based summary : Mitochondrial Disorders, also known as mitochondrial diseases, is related to myoclonic epilepsy associated with ragged-red fibers and chronic progressive external ophthalmoplegia, and has symptoms including muscle weakness, myalgia and muscle rigidity. An important gene associated with Mitochondrial Disorders is DGUOK (Deoxyguanosine Kinase), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Mitochondrial protein import. The drugs Citalopram and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, brain and endothelial, and related phenotype is Decreased shRNA abundance.

Wikipedia : 76 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:

Isca2-Related Mitochondrial Disorder Rrm2b-Related Mitochondrial Disease

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

(show top 50) (show all 326)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy associated with ragged-red fibers 31.7 COX5A TFAM
2 chronic progressive external ophthalmoplegia 30.4 COX5A SLC25A4
3 kearns-sayre syndrome 30.0 COX5A MT-ATP6 SLC25A4 TFAM
4 optic nerve disease 29.6 MT-ATP6 OPA1
5 mitochondrial encephalomyopathy 29.1 COQ4 COX5A MT-ATP6
6 mitochondrial metabolism disease 28.8 COX5A DGUOK MT-ATP6 OPA1 SLC25A4 TFAM
7 mitochondrial myopathy 28.5 COX5A DGUOK MT-ATP6 SLC25A4 TFAM
8 mitochondrial myopathy with lactic acidosis 12.6
9 mitochondrial myopathy, lethal, infantile 12.4
10 pure mitochondrial myopathy 12.3
11 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency 12.2
12 fastkd2-related infantile mitochondrial encephalomyopathy 12.2
13 hsd10 mitochondrial disease 12.2
14 mitochondrial myopathy with diabetes 12.2
15 rrm2b-related mitochondrial disease 12.1
16 mitochondrial myopathy with a defect in mitochondrial-protein transport 12.0
17 myopathy mitochondrial cataract 12.0
18 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 12.0
19 myopathy, lactic acidosis, and sideroblastic anemia 1 12.0
20 isca2-related mitochondrial disorder 12.0
21 myopathy, isolated mitochondrial, autosomal dominant 11.9
22 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.9
23 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 11.8
24 combined oxidative phosphorylation deficiency 6 11.8
25 combined oxidative phosphorylation deficiency 3 11.5
26 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.5
27 mitochondrial complex iii deficiency, nuclear type 1 11.4
28 mitochondrial complex v deficiency, nuclear type 5 11.2
29 mitochondrial complex iii deficiency 11.2
30 mitochondrial dna depletion syndrome 1 11.2
31 mitochondrial dna depletion syndrome 5 11.2
32 myopathy, mitochondrial, and ataxia 11.2
33 congenital intrauterine infection-like syndrome 11.2
34 cerebral atrophy 11.2
35 mitochondrial complex i deficiency 11.1
36 ataxia and polyneuropathy, adult-onset 11.1
37 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 11.1
38 combined oxidative phosphorylation deficiency 34 11.1
39 hypotonia-cystinuria syndrome 11.0
40 liver failure, infantile, transient 11.0
41 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 11.0
42 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna 11.0
43 tmem70 defect 11.0
44 diabetes and deafness, maternally inherited 11.0
45 sengers syndrome 10.9
46 mitochondrial myopathy, infantile, transient 10.9
47 myopathy, lactic acidosis, and sideroblastic anemia 3 10.9
48 mitochondrial dna depletion syndrome 11 10.9
49 mitochondrial dna depletion syndrome 12b , autosomal recessive 10.9
50 combined oxidative phosphorylation deficiency 24 10.9

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



Diseases related to Mitochondrial Disorders

Symptoms & Phenotypes for Mitochondrial Disorders

UMLS symptoms related to Mitochondrial Disorders:


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

GenomeRNAi Phenotypes related to Mitochondrial Disorders according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.8 ATP5F1A COX5A DGUOK

Drugs & Therapeutics for Mitochondrial Disorders

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

(show top 50) (show all 181)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
4
Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58186-27-9
5 Immunologic Factors Phase 4,Phase 2
6 Lipid Regulating Agents Phase 4,Phase 2,Early Phase 1,Not Applicable
7 Hypolipidemic Agents Phase 4,Phase 2,Early Phase 1,Not Applicable
8 Antimetabolites Phase 4,Phase 2,Early Phase 1,Not Applicable
9 Vaccines Phase 4
10 Serotonin Uptake Inhibitors Phase 4
11 Muscarinic Antagonists Phase 4
12 Antidepressive Agents Phase 4
13 Psychotropic Drugs Phase 4
14 Antiparkinson Agents Phase 4
15 Cytochrome P-450 Enzyme Inhibitors Phase 4
16 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1,Not Applicable
17 Cholinergic Agents Phase 4,Phase 2,Phase 3
18 Cholinergic Antagonists Phase 4
19 Antidepressive Agents, Second-Generation Phase 4
20 Autonomic Agents Phase 4,Early Phase 1
21 Dopamine Uptake Inhibitors Phase 4
22 Dopamine Agents Phase 4
23 Serotonin Agents Phase 4
24 Neurotransmitter Uptake Inhibitors Phase 4
25 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Early Phase 1,Not Applicable
26 Parasympatholytics Phase 4
27 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
28 Insulin, Globin Zinc Phase 4,Not Applicable
29 Calcium, Dietary Phase 4,Early Phase 1,Not Applicable
30 Anticholesteremic Agents Phase 4,Early Phase 1
31 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Early Phase 1
32 insulin Phase 4,Not Applicable
33 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
34 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
35 Atorvastatin Calcium Phase 4 134523-03-8
36
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
37
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
38
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
39 Strawberry Approved Phase 3
40
Varenicline Approved, Investigational Phase 2, Phase 3 249296-44-4 5310966
41
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3,Phase 2 303-98-0 5281915
42 Trace Elements Phase 3,Phase 2,Phase 1,Not Applicable
43 Vitamins Phase 3,Phase 2,Phase 1,Not Applicable
44 Micronutrients Phase 3,Phase 2,Phase 1,Not Applicable
45 Anti-Infective Agents Phase 3,Phase 2
46 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
47 Anesthetics Phase 3,Not Applicable
48 Ubiquinone Phase 3,Phase 2,Phase 1
49 Interferon-gamma Phase 3,Phase 2
50 interferons Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 186)
# Name Status NCT ID Phase Drugs
1 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
2 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4 bupropion & Citalopram;Bupropion & Placebo;Placebo & Citalopram;Placebo & Placebo
3 Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity Recruiting NCT03351998 Phase 4 Lipitor 20Mg Tablet;Lipitor 80Mg Tablet;Placebo Oral Tablet
4 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4 Idebenone
5 Phase III Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3 CoenzymeQ10;Placebo
6 Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02797080 Phase 3 interferon γ-1b
7 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3 Interferon γ-1b
8 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
9 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3 Idebenone;Placebo
10 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3 idebenone
11 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3 idebenone;Placebo
12 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
13 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
14 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
15 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
16 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 Efficacy and Safety Study of Bilateral Intravitreal Injection of GS010 for the Treatment of Vision Loss up to 1 Year From Onset in LHON Due to the ND4 Mutation Recruiting NCT03293524 Phase 3 Placebo
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 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4
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 Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome Unknown status NCT00068913 Phase 2 Dichloroacetate
25 The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease Unknown status NCT00457314 Phase 2
26 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency Unknown status NCT02640443 Phase 2 Sulfamethoxazole
27 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
28 Effect of Nicotinamide in Friedreich's Ataxia Unknown status NCT01589809 Phase 2 nicotinamide
29 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
30 A Study to Evaluate the Safety, Tolerability, and Efficacy of Subcutaneous Injections of Elamipretide (MTP-131) in Subjects With Genetically Confirmed Mitochondrial Disease Previously Treated in the Stealth BioTherapeutics SPIMM-201 Study Completed NCT02805790 Phase 2 Elamipretide;Placebo
31 A Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
32 The KHENERGY Study Completed NCT02909400 Phase 2 KH176;placebo
33 A Study Investigating the Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy Completed NCT02367014 Phase 1, Phase 2 MTP-131;MTP-131;MTP-131;Placebo
34 Heart Rate Variability in Response to Metformin Challenge Completed NCT02500628 Phase 2 Metformin
35 Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome Completed NCT01721733 Phase 2 Placebo;EPI-743 15 mg/kg;EPI-743 5 mg/kg
36 Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Completed NCT00983788 Phase 2 Bezafibrate
37 RTA 408 Capsules in Patients With Mitochondrial Myopathy - MOTOR Completed NCT02255422 Phase 2 Omaveloxolone capsules, 2.5 mg;omaveloxolone capsules, 5 mg;omaveloxolone capsules, 10 mg;Placebo capsules;omaveloxolone capsules, 20 mg;omaveloxolone capsules, TBD mg;omaveloxolone capsules, 40 mg;omaveloxolone capsules, 80 mg;omaveloxolone capsules, 160 mg
38 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
39 Efficacy, Tolerability, and Pharmacokinetics of Multiple Doses of Oral TAK-831 in Adults With Friedreich Ataxia Completed NCT03214588 Phase 2 TAK-831;TAK-831 Placebo
40 A First in Human Study of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 RT001;RT001 comparator
41 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
42 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
43 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2 EPI-743
44 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
45 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2 L-Arginine
46 Efficacy Study of Epoetin Alfa in Friedreich Ataxia Completed NCT01493973 Phase 2 Epoetin alfa;Placebo
47 A Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
48 Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2 alpha-tocopherolquinone (A0001);alpha-tocopherolquinone (A0001);placebo
49 Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia Completed NCT01016366 Phase 2 Lu AA24493;Placebo
50 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

Search NIH Clinical Center for Mitochondrial Disorders

Genetic Tests for Mitochondrial Disorders

Genetic tests related to Mitochondrial Disorders:

# Genetic test Affiliating Genes
1 Mitochondrial Diseases 29

Anatomical Context for Mitochondrial Disorders

MalaCards organs/tissues related to Mitochondrial Disorders:

41
Skeletal Muscle, Brain, Endothelial, Kidney, Liver, Testes, Ovary

Publications for Mitochondrial Disorders

Articles related to Mitochondrial Disorders:

(show top 50) (show all 713)
# Title Authors Year
1
Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders. ( 29502919 )
2018
2
Biomarkers for Detecting Mitochondrial Disorders. ( 29385732 )
2018
3
Are patients affected by mitochondrial disorders at nutritional risk? ( 29429536 )
2018
4
First-line genomic diagnosis of mitochondrial disorders. ( 29789687 )
2018
5
Letter to the Editor: Endocrine Compromise in Mitochondrial Disorders. ( 29942921 )
2018
6
Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations. ( 29272804 )
2018
7
Involvement of the Spinal Cord in Mitochondrial Disorders. ( 29725177 )
2018
8
Cerebral imaging in paediatric mitochondrial disorders. ( 29978728 )
2018
9
MicroRNAs are inappropriate for characterising hearing impairment in mitochondrial disorders. ( 29855326 )
2018
10
Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders. ( 29315169 )
2018
11
Single nucleotide mtDNA polymorphisms may contribute to cancerogenesis in mitochondrial disorders. ( 29536588 )
2018
12
Natural history of mitochondrial disorders: a systematic review. ( 29980629 )
2018
13
Polycystic ovary syndrome in mitochondrial disorders due mtDNA or nDNA variants. ( 29422990 )
2018
14
Frequency of Headache in Mitochondrial Disorders. ( 29411365 )
2018
15
Headache in mitochondrial disorders. ( 29408771 )
2018
16
Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders. ( 29453449 )
2018
17
Recent perspectives of pediatric mitochondrial diseases. ( 29375674 )
2018
18
Cerebellar atrophy is common among mitochondrial disorders. ( 29717375 )
2018
19
Frequency of Headache in Mitochondrial Disorders: A Response. ( 29411368 )
2018
20
The current landscape for the treatment of mitochondrial disorders. ( 29502956 )
2018
21
Epilepsy management in mitochondrial diseases. ( 30266218 )
2018
22
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers. ( 30373890 )
2018
23
Polymegathism as a biomarker of mitochondrial disorders. ( 29536171 )
2018
24
Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral l-carnitine. ( 30023305 )
2018
25
Neuroimaging in mitochondrial disorders. ( 30030366 )
2018
26
Clinical Perspectives of Mitochondrial Disorders. ( 30371039 )
2018
27
Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence. ( 30535772 )
2018
28
Small fibre neuropathy in mitochondrial diseases explored with sudoscan. ( 29890373 )
2018
29
Mitochondrial diseases and status epilepticus. ( 30159903 )
2018
30
Do GSTM1 and GSTT1 polymorphisms influence the risk of developing mitochondrial diseases in a Tunisian population? ( 29235020 )
2018
31
Mitochondrial diseases. ( 29325608 )
2018
32
FGF-21 as a Potential Biomarker for Mitochondrial Diseases. ( 29332568 )
2018
33
Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA. ( 29344903 )
2018
34
The role of mitochondria in the female germline: Implications to fertility and inheritance of mitochondrial diseases. ( 29418047 )
2018
35
Novel Drosophila model for mitochondrial diseases by targeting of a solute carrier protein SLC25A46. ( 29604258 )
2018
36
Preventing Mitochondrial Diseases: Embryo-Sparing Donor-Independent Options. ( 29605176 )
2018
37
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases. ( 29625556 )
2018
38
Mitochondrial Donation: A Boon or Curse for the Treatment of Incurable Mitochondrial Diseases. ( 29681709 )
2018
39
Recent perspectives of pediatric mitochondrial diseases. ( 29897052 )
2018
40
The Bacterial Protein CNF1 as a Potential Therapeutic Strategy against Mitochondrial Diseases: A Pilot Study. ( 29933571 )
2018
41
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience. ( 29974349 )
2018
42
Emerging therapies for mitochondrial diseases. ( 29980632 )
2018
43
Nutritional support in mitochondrial diseases: the state of the art. ( 30024619 )
2018
44
'Old' genome editors might treat mitochondrial diseases. ( 30262479 )
2018
45
Mitochondrial diseases caused by dysfunctional mitochondrial protein import. ( 30287509 )
2018
46
Cognitive characteristics of mitochondrial diseases in children. ( 30316150 )
2018
47
Mitochondrial diseases caused by mtDNA mutations: a mini-review. ( 30349272 )
2018
48
FoxO1-miRNA interacting networks as potential targets for mitochondrial diseases. ( 30367995 )
2018
49
Understanding molecular biology of codon usage in mitochondrial complex IV genes of electron transport system: Relevance to mitochondrial diseases. ( 30417339 )
2018
50
Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases. ( 30459337 )
2018

Variations for Mitochondrial Disorders

ClinVar genetic disease variations for Mitochondrial Disorders:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A4 NM_001151.3(SLC25A4): c.368C> A (p.Ala123Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912683 GRCh37 Chromosome 4, 186066174: 186066174
2 SLC25A4 NM_001151.3(SLC25A4): c.368C> A (p.Ala123Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912683 GRCh38 Chromosome 4, 185145020: 185145020

Expression for Mitochondrial Disorders

Search GEO for disease gene expression data for Mitochondrial Disorders.

Pathways for Mitochondrial Disorders

GO Terms for Mitochondrial Disorders

Cellular components related to Mitochondrial Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.5 ATP5F1A DGUOK TFAM
2 mitochondrial inner membrane GO:0005743 9.43 ATP5F1A COQ4 COX5A MT-ATP6 OPA1 SLC25A4
3 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.26 ATP5F1A MT-ATP6
4 mitochondrion GO:0005739 9.23 ATP5F1A COQ4 COX5A DGUOK OPA1 QRSL1
5 extrinsic component of mitochondrial inner membrane GO:0031314 9.16 COQ4 OPA1

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

# Name GO ID Score Top Affiliating Genes
1 electron transport chain GO:0022900 9.4 ATP5F1A COX5A
2 mitochondrion organization GO:0007005 9.37 OPA1 TFAM
3 cristae formation GO:0042407 9.32 ATP5F1A MT-ATP6
4 ATP biosynthetic process GO:0006754 9.26 ATP5F1A MT-ATP6
5 ATP synthesis coupled proton transport GO:0015986 9.16 ATP5F1A MT-ATP6
6 mitochondrial ATP synthesis coupled proton transport GO:0042776 8.96 ATP5F1A MT-ATP6
7 mitochondrial genome maintenance GO:0000002 8.62 OPA1 SLC25A4

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 8.8 ATP5F1A MT-ATP6 SLC25A4

Sources for Mitochondrial Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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