MCID: MTC005
MIFTS: 49

Mitochondrial Metabolism Disease

Categories: Metabolic diseases

Aliases & Classifications for Mitochondrial Metabolism Disease

MalaCards integrated aliases for Mitochondrial Metabolism Disease:

Name: Mitochondrial Metabolism Disease 12 15
Abnormality of Mitochondrial Metabolism 29 6
Mitochondrial Diseases 43 71

Classifications:



External Ids:

Disease Ontology 12 DOID:700
MeSH 43 D028361
UMLS 71 C0751651

Summaries for Mitochondrial Metabolism Disease

Disease Ontology : 12 An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.

MalaCards based summary : Mitochondrial Metabolism Disease, also known as abnormality of mitochondrial metabolism, is related to mitochondrial disorders and kearns-sayre syndrome. An important gene associated with Mitochondrial Metabolism Disease is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are Parkinson disease and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Atorvastatin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and skeletal muscle.

Related Diseases for Mitochondrial Metabolism Disease

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

(show top 50) (show all 481)
# Related Disease Score Top Affiliating Genes
1 mitochondrial disorders 36.0 YARS2 TWNK TRMT10C TMEM126B SPG7 SLC25A4
2 kearns-sayre syndrome 34.3 TWNK SPG7 SLC25A4 RRM2B POLG MT-TL1
3 chronic progressive external ophthalmoplegia 34.3 TWNK SPG7 SLC25A4 RRM2B POLG MT-TL1
4 mitochondrial myopathy 34.2 YARS2 TWNK SLC25A4 RRM2B POLG MT-TL1
5 mitochondrial encephalomyopathy 34.0 TWNK POLG OPA1 MT-TL1 MT-TK MT-ND6
6 myoclonic epilepsy associated with ragged-red fibers 33.8 TWNK POLG MT-TL1 MT-TK MT-ND6 MT-ND5
7 leigh syndrome 33.8 TWNK TMEM126B POLG NDUFAF8 MT-TL1 MT-TK
8 pearson marrow-pancreas syndrome 33.6 YARS2 TWNK RRM2B POLG MT-TL1 MT-TK
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 33.5 TWNK SLC25A4 RRM2B POLG
10 mitochondrial dna depletion syndrome 4a 33.4 TWNK RRM2B POLG MT-TK
11 mitochondrial dna depletion syndrome 33.4 TWNK SLC25A4 RRM2B POLG OPA1 MT-TK
12 mitochondrial complex i deficiency, nuclear type 1 33.3 TMEM126B POLG NDUFAF8 MT-ND6 MT-ND1 MT-ATP6
13 neuropathy, ataxia, and retinitis pigmentosa 33.3 TWNK POLG MT-TK MT-ND6 MT-ATP6
14 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 33.3 TWNK SLC25A4 RRM2B POLG MT-TK
15 myopathy 33.1 YARS2 TWNK SLC25A4 RRM2B POLG MT-TL1
16 lactic acidosis 32.8 YARS2 TRMT10C RRM2B RMND1 POLG MT-TL1
17 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 32.5 MT-TK MT-ATP6
18 leber optic atrophy 32.5 TWNK TMEM126B SPG7 SLC25A4 RRM2B POLG
19 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.4 YARS2 TWNK TMEM126B POLG MT-TL1 MT-TK
20 optic nerve disease 32.4 TWNK SPG7 POLG OPA1 MT-TK MT-ND6
21 ptosis 32.1 TWNK SPG7 SLC25A4 RRM2B POLG OPA1
22 neuropathy 32.1 TWNK POLG OPA1 MT-ND6 MT-ND5 MT-ND1
23 3-methylglutaconic aciduria, type iii 32.0 TWNK SPG7 SLC25A4 POLG OPA1 MT-TK
24 early myoclonic encephalopathy 31.9 POLG MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ATP6
25 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 31.9 TWNK SLC25A4 RRM2B POLG
26 hereditary optic neuropathy 31.9 MT-ND6 MT-ND5 MT-ND1 MT-ATP6
27 peripheral nervous system disease 31.8 TWNK POLG OPA1 MT-TK MT-ND6 MT-ND1
28 hypertrophic cardiomyopathy 31.8 SLC25A4 OPA1 MT-TL1 MT-ND1 MT-CO2 MT-ATP6
29 sensorineural hearing loss 31.5 OPA1 MT-TL1 MT-ND6 MT-ATP6 GFER
30 polyneuropathy 31.5 TWNK SPG7 POLG MT-ATP6
31 autosomal dominant progressive external ophthalmoplegia 31.4 TWNK SLC25A4 RRM2B POLG OPA1
32 mitochondrial neurogastrointestinal encephalomyopathy 31.4 RRM2B POLG
33 axonal neuropathy 31.2 TWNK SLC25A4 RRM2B POLG
34 diabetes and deafness, maternally inherited 31.2 MT-TL1 MT-TK
35 ataxia neuropathy spectrum 31.1 TWNK POLG
36 polg-related disorders 31.1 TWNK POLG
37 autosomal dominant cerebellar ataxia 30.7 TWNK SPG7 POLG
38 mitochondrial dna depletion syndrome 4b 30.7 TWNK SLC25A4 POLG
39 mitochondrial myopathy, infantile, transient 30.7 MT-ND5 MT-ND1 MT-ATP6
40 spastic paraplegia 7, autosomal recessive 30.6 SPG7 OPA1
41 perrault syndrome 30.6 YARS2 TWNK SPG7
42 charcot-marie-tooth hereditary neuropathy 30.4 SPG7 MT-ATP6
43 leber optic atrophy and dystonia 30.4 MT-ND6 MT-ND1
44 mitochondrial dna depletion syndrome 3 30.3 TWNK POLG
45 hsd10 mitochondrial disease 12.4
46 rrm2b-related mitochondrial disease 12.2
47 mitochondrial disease with epilepsy 12.2
48 mitochondrial disease with dilated cardiomyopathy 12.0
49 mitochondrial disease with hypertrophic cardiomyopathy 12.0
50 mitochondrial disease with peripheral neuropathy 12.0

Graphical network of the top 20 diseases related to Mitochondrial Metabolism Disease:



Diseases related to Mitochondrial Metabolism Disease

Symptoms & Phenotypes for Mitochondrial Metabolism Disease

Drugs & Therapeutics for Mitochondrial Metabolism Disease

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

(show top 50) (show all 82)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 4 134523-00-5 60823
2 Insulin, Globin Zinc Phase 4
3 Hypolipidemic Agents Phase 4
4 Lipid Regulating Agents Phase 4
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
6 insulin Phase 4
7 Anticholesteremic Agents Phase 4
8 Antimetabolites Phase 4
9
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
10 Ubiquinone Phase 3
11 Hypoglycemic Agents Phase 3
12
Icatibant Approved, Investigational Phase 2 138614-30-9, 130308-48-4 71364
13
Metformin Approved Phase 2 657-24-9 14219 4091
14
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
15
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
16
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
18
Bradykinin Investigational Phase 2 58-82-2 439201
19 Tocotrienol Investigational Phase 2 6829-55-6
20 Analgesics, Non-Narcotic Phase 2
21 Analgesics Phase 2
22 Vitamins Phase 1, Phase 2
23 Antioxidants Phase 1, Phase 2
24 Kininogens Phase 2
25 Immunologic Factors Phase 2
26 Complement System Proteins Phase 2
27 Immunosuppressive Agents Phase 2
28 Anti-Inflammatory Agents Phase 2
29 Bradykinin Receptor Antagonists Phase 2
30 Antirheumatic Agents Phase 2
31 Anti-Inflammatory Agents, Non-Steroidal Phase 2
32 Analgesics, Opioid Phase 2
33 Antipsychotic Agents Phase 2
34 Tocotrienol, alpha Phase 2
35 Tocopherols Phase 2
36 Tocotrienols Phase 2
37
Nitric Oxide Approved Phase 1 10102-43-9 145068
38
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
39 Micronutrients Phase 1
40 Alpha-lipoic Acid Phase 1
41 Trace Elements Phase 1
42 Vitamin B Complex Phase 1
43 carnitine Phase 1
44 Folate Phase 1
45 Nutrients Phase 1
46 Thioctic Acid Phase 1
47 Protective Agents Phase 1
48 Vitamin B9 Phase 1
49
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
50
Dexmedetomidine Approved, Vet_approved 113775-47-6 5311068 68602

Interventional clinical trials:

(show top 50) (show all 81)
# Name Status NCT ID Phase Drugs
1 Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity Recruiting NCT03351998 Phase 4 Lipitor 20Mg Tablet;Lipitor 80Mg Tablet;Placebo Oral Tablet
2 Phase 3 Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3 CoenzymeQ10;Placebo
3 The Synergistic Effect of Hypoglycemic Index Diet on Refractory Schizophrenia Enrolling by invitation NCT04302636 Phase 3
4 Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy Not yet recruiting NCT04378075 Phase 2, Phase 3 Vatiquinone
5 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
6 Therapeutic Trial of EPI -743 In Patients With Disorders of Energy Utilization or Oxidation-Reduction Completed NCT01642056 Phase 1, Phase 2 EPI-743;Placebo
7 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover 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
8 Mitochondrial Dysfunction in Chronic Kidney Disease Completed NCT03177798 Phase 2 Icatibant;Placebo
9 An Open-Label, Dose-Escalating Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
10 Heart Rate Variability in Response to Metformin Challenge Completed NCT02500628 Phase 2 Metformin
11 A Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
12 Phase 1/2 Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study for the Safety, Tolerability, and Efficacy of IV MTP-131 for Mitochondrial Myopathy in Genetically Confirmed Mitochondrial Disease Completed NCT02367014 Phase 1, Phase 2 elamipretide (low dose);elamipretide (intermediate dose);elamipretide (high dose);Placebo
13 A Phase IIb Double-blind, Randomised, Placebo-controlled, Multi-centre, Confirmative Three-way Cross-over Study on Cognitive Function With Two Doses of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation. Recruiting NCT04165239 Phase 2 KH176;KH176;Placebo
14 Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care Active, not recruiting NCT01370447 Phase 2 EPI-743
15 A Phase I/II, Open Label, Single Dose Clinical Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD (Autologous cd34+ Cells Enriched With Blood Derived Mitochondria) in Pediatric Patients With Pearson Syndrome Enrolling by invitation NCT03384420 Phase 1, Phase 2
16 The Safety, Tolerability, Pharmacodynamics, and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase (EE-TP) in Patients With MNGIE Not yet recruiting NCT03866954 Phase 2
17 A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
18 An Open-Label Phase 2 Safety and Efficacy Study of EPI-743 (VincerinoneTM) in Children With Pearson Syndrome Terminated NCT02104336 Phase 2 EPI-743
19 A Multicenter, Open-Label Phase 2 Extension Trial to Characterize the Long-term Safety and Tolerability of Subcutaneous Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM) Terminated NCT02976038 Phase 2 elamipretide
20 Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)? Unknown status NCT02348125 Phase 1 Mitochondrial Cocktail
21 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
22 A Dose Block-randomized, Double-blind, Placebo-controlled, Single-dose, Dose-escalation, Phase I Clinical Study Completed NCT03056209 Phase 1 KL1333 25 mg;KL1333 50 mg;KL1333 100 mg;KL1333 200 mg;KL1333 400 mg;KL1333 600 mg;KL1333 800 mg;Placebo
23 Open-Trial of EPI-743 for Adults With Tourette Syndrome Completed NCT01719523 Phase 1 EPI-743
24 A Phase Ia/Ib, Multiple-site Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of KL1333 After a Single and Multiple Ascending Oral Doses in Healthy Subjects and Patients With Primary Mitochondrial Disease Recruiting NCT03888716 Phase 1 KL1333;Placebo Oral Tablet
25 Phase-1, Dose Finding and Safety Study on L- Citrulline Treatment of Nitric Oxide Deficiency in MELAS Not yet recruiting NCT03952234 Phase 1 L-Citrulline
26 An Open-Label Dose-Escalation Phase I Study to Asses the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RG2133 (2',3',5'-Tri-O-Acetyluridine) in the Treatment of Inherited Mitochondrial Diseases Terminated NCT00060515 Phase 1 RG2133 (2',3',5'-tri-O-acetyluridine)
27 Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability. Unknown status NCT00831948
28 Biomarkers in Exhaled Breath Condensates of Septic Patients to Predict Development of Multi-organ Dysfunction Syndrome Unknown status NCT01503684
29 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
30 The Effect of Arginine and Citrulline Supplementation on Endothelial Dysfunction in Mitochondrial Diseases Completed NCT02809170
31 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy Completed NCT01301235
32 Survey on Supplement Use in Mitochondrial Disease Completed NCT02311257
33 Calf Muscle Strength in Patients Affected by Mitochondrial Diseases as Compared to Healthy Individuals Completed NCT02678637
34 Mitochondria in HIV and Aging (MITO+) Completed NCT03489421
35 Non-invasive Measurement of Energy Metabolism in Patients With Primary and Secondary Mitochondrial Diseases Completed NCT03917212
36 Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques. Completed NCT00829270
37 Energy Requirements in Metabolic and Mitochondrial Disease Completed NCT01776918
38 Diffuse Optical Spectroscopy Measurement Technique is Helping Develop More Effective Diagnostic Tools and Therapeutic Regimes for Diabetes, Metabolic Syndrome and Other Mitochondrial Diseases Some Time in the Future Completed NCT00786721
39 Investigation of the Nature and Prevalence of Mitochondria Disease Completed NCT00786539
40 A Prospective Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300) Completed NCT03048617
41 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
42 Mechanisms of Mitochondrial Defects in Gulf War Syndrome Completed NCT01264471
43 Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia Completed NCT02161848
44 Diagnostic Odyssey Survey 2 Completed NCT03678740
45 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
46 Acute Nutritional Ketosis in VLCAD Deficiency: Testing the Metabolic Base for Therapeutic Use Completed NCT03531554
47 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067
48 Acute Effects of Dietary Glycemic Index on Lactate and Glucose Homeostasis in Individuals With Primary Mitochondrial Disease Completed NCT02284334
49 Study of Interaction Between Adipose and Muscle Tissues in the Control of Muscle Mitochondrial Functions Completed NCT00446745
50 GDF-15 as a Biomarker for Mitochondrial Disease Completed NCT02745938

Search NIH Clinical Center for Mitochondrial Metabolism Disease

Cochrane evidence based reviews: mitochondrial diseases

Genetic Tests for Mitochondrial Metabolism Disease

Genetic tests related to Mitochondrial Metabolism Disease:

# Genetic test Affiliating Genes
1 Abnormality of Mitochondrial Metabolism 29

Anatomical Context for Mitochondrial Metabolism Disease

MalaCards organs/tissues related to Mitochondrial Metabolism Disease:

40
Heart, Brain, Skeletal Muscle, Liver, Testes, Endothelial, Skin

Publications for Mitochondrial Metabolism Disease

Articles related to Mitochondrial Metabolism Disease:

(show top 50) (show all 1949)
# Title Authors PMID Year
1
Mitochondrial Disorders Overview 61 6
20301403 2000
2
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. 6
25503498 2015
3
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 54 61
20513108 2010
4
The mitochondrial DNA polymerase in health and disease. 54 61
20012584 2010
5
Cytochrome c oxidase deficiency: patients and animal models. 54 61
19682572 2010
6
Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defects. 61 54
20049744 2009
7
The unfolding clinical spectrum of POLG mutations. 61 54
19578034 2009
8
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 61 54
19501198 2009
9
Phenotypic variations in 3 children with POLG1 mutations. 54 61
19189930 2009
10
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease. 61 54
19513667 2009
11
False positive results of mitochondrial DNA depletion/deletion due to single nucleotide substitutions causing appearance of additional PvuII restriction sites. 61 54
17525683 2007
12
Neuropathology of mitochondrial diseases. 54 61
17541738 2007
13
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. 61 54
17384007 2007
14
Two components in pathogenic mechanism of mitochondrial ATPase deficiency: energy deprivation and ROS production. 61 54
16581217 2006
15
Clinical and genetic uniqueness in an individual with MELAS. 61 54
16741938 2006
16
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. 61 54
16685652 2006
17
Consequences of mutations in human DNA polymerase gamma. 61 54
15913923 2005
18
Pathology of mitochondrial encephalomyopathies. 54 61
16018150 2005
19
Mitochondrial respiratory chain dysfunction in various neuromuscular diseases. 54 61
15925774 2005
20
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency. 54 61
15596615 2004
21
Gene expression profiling in mitochondrial disease: assessment of microarray accuracy by high-throughput Q-PCR. 61 54
16120406 2004
22
Mitochondrial diseases and ATPase defects of nuclear origin. 54 61
15282182 2004
23
Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase. 54 61
15155867 2004
24
Genetic defects of cytochrome c oxidase assembly. 54 61
15119951 2004
25
Peripheral benzodiazepine binding sites in platelets of patients affected by mitochondrial diseases and large scale mitochondrial DNA rearrangements. 61 54
12606819 2002
26
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases. 54 61
11907800 2002
27
Histochemical and molecular genetic study of MELAS and MERRF in Korean patients. 61 54
11850598 2002
28
Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies. 54 61
11312605 2001
29
Oxidative stress in human aging and mitochondrial disease-consequences of defective mitochondrial respiration and impaired antioxidant enzyme system. 61 54
11403514 2001
30
Mitochondrial respiratory chain activity in idiopathic dilated cardiomyopathy. 61 54
10746819 2000
31
A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency. 54 61
10426322 1999
32
Mutations at specific atp6 codons which cause human mitochondrial diseases also lead to male sterility in a plant. 61 54
9883875 1998
33
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. 61 54
9832034 1998
34
[Mitochondrial transport of nucleic acids. Participation of the benzodiazepine receptor]. 54 61
9035744 1996
35
Late-onset mitochondrial neuromyopathy: an age-related phenomenon? 61 54
18653097 1996
36
Structure, expression, and chromosomal assignment of the human gene encoding nuclear respiratory factor 1. 61 54
7629110 1995
37
Regulation of mitochondrial energy generation in health and disease. 61 54
7599196 1995
38
Myogenic hyperuricemia: what can we learn from metabolic myopathies? 54 61
7603532 1995
39
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease. 61
32234506 2020
40
Apoptosis inducing factor: Cellular protective function in Dictyostelium discoideum. 61
31991113 2020
41
Defective NADPH production in mitochondrial disease complex I causes inflammation and cell death. 61
32483148 2020
42
The Similarities between Human Mitochondria and Bacteria in the Context of Structure, Genome, and Base Excision Repair System. 61
32575813 2020
43
Mitochondrial DNA Damage: Prevalence, Biological Consequence, and Emerging Pathways. 61
32486637 2020
44
Mitochondrial diseases in adults. 61
32463135 2020
45
Strategies for fighting mitochondrial diseases. 61
32100338 2020
46
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. 61
32439066 2020
47
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions. 61
32504279 2020
48
Neuroanatomical Changes in Leber's Hereditary Optic Neuropathy: Clinical Application of 7T MRI Submillimeter Morphometry. 61
32526981 2020
49
Synergistic effect of dichloroacetate on talaporfin sodium-based photodynamic therapy on U251 human astrocytoma cells. 61
32497773 2020
50
Discovery of 6-Phenylhexanamide Derivatives as Potent Stereoselective Mitofusin Activators for the Treatment of Mitochondrial Diseases. 61
32506913 2020

Variations for Mitochondrial Metabolism Disease

ClinVar genetic disease variations for Mitochondrial Metabolism Disease:

6 (show top 50) (show all 113) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 covers 13 genes, none of which curated to show dosage sensitivity NC_012920.1:m.6003_11220del5218deletion Pathogenic 430674 MT:6003-11220 MT:6003-11220
2 covers 20 genes, none of which curated to show dosage sensitivity NC_012920.1:m.6469_15587del9119deletion Pathogenic 430675 MT:6469-15587 MT:6469-15587
3 covers 17 genes, none of which curated to show dosage sensitivity NC_012920.1:m.7129_13991del6863deletion Pathogenic 430676 MT:7129-13991 MT:7129-13991
4 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_11255del3526deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255
5 covers 14 genes, none of which curated to show dosage sensitivity NC_012920.1:m.8839_14895del6057deletion Pathogenic 430683 MT:8839-14895 MT:8839-14895
6 MT-CO2 NC_012920.1:m.7989T>CSNV Pathogenic 430690 rs1131692064 MT:7989-7989 MT:7989-7989
7 covers 13 genes, none of which curated to show dosage sensitivity NC_012920.1:m.8290_13040del4751deletion Pathogenic 430678 MT:8290-13040 MT:8290-13040
8 covers 12 genes, none of which curated to show dosage sensitivity NC_012920.1:m.8483_13459del4977deletion Pathogenic 430680 MT:8483-13459 MT:8483-13459
9 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1:m.8587_12967del4381deletion Pathogenic 430681 MT:8587-12967 MT:8587-12967
10 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1:m.8815_13722del4908deletion Pathogenic 430682 MT:8815-13722 MT:8815-13722
11 GFM2 NM_032380.5(GFM2):c.636del (p.Glu213fs)deletion Pathogenic 440787 rs746538436 5:74041963-74041963 5:74746138-74746138
12 GFM2 NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser)SNV Pathogenic 440788 rs1554042187 5:74054703-74054703 5:74758878-74758878
13 TOP3A NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter)SNV Pathogenic 446286 rs200944917 17:18208522-18208522 17:18305208-18305208
14 TOP3A NM_004618.5(TOP3A):c.298A>G (p.Met100Val)SNV Pathogenic 446285 rs376902371 17:18211681-18211681 17:18308367-18308367
15 NDUFA6 NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs)deletion Pathogenic 487475 rs1569463838 22:42482242-42482243 22:42086238-42086239
16 NDUFA6 NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter)SNV Pathogenic 487478 rs758833609 22:42482309-42482309 22:42086305-42086305
17 NDUFA6 NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro)SNV Pathogenic 487477 rs750830935 22:42483128-42483128 22:42087124-42087124
18 NDUFA6 NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile)SNV Pathogenic 487476 rs1023075742 22:42486746-42486746 22:42090742-42090742
19 ATP5F1D NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly)SNV Pathogenic 489386 rs1555745989 19:1244117-1244117 19:1244118-1244118
20 TWNK NM_021830.5(TWNK):c.1374G>T (p.Gln458His)SNV Pathogenic 426104 rs1554887213 10:102749531-102749531 10:100989774-100989774
21 TWNK NM_021830.5(TWNK):c.1391T>C (p.Leu464Pro)SNV Pathogenic 426105 rs1554887222 10:102749548-102749548 10:100989791-100989791
22 YARS2 NM_001040436.3(YARS2):c.1147_1164dup (p.Val383_Glu388dup)duplication Pathogenic 426099 rs775256289 12:32902980-32902981 12:32750046-32750047
23 YARS2 NM_001040436.3(YARS2):c.1106G>A (p.Cys369Tyr)SNV Pathogenic 426098 rs1365700579 12:32903039-32903039 12:32750105-32750105
24 POLG NM_002693.2(POLG):c.3550G>A (p.Asp1184Asn)SNV Pathogenic 426100 rs1131691575 15:89860700-89860700 15:89317469-89317469
25 GFER NM_005262.3(GFER):c.586C>T (p.Arg196Cys)SNV Pathogenic 426097 rs370475970 16:2035997-2035997 16:1985996-1985996
26 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1:m.10106_15067del4962deletion Pathogenic 430684 MT:10106-15067 MT:10106-15067
27 MT-CYB , MT-ND4 , MT-ND5 , MT-ND6 , MT-TE , MT-TH , MT-TL2 , MT-TS2 NC_012920.1:m.11263_15374del4112deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374
28 MT-ND4 , MT-ND5 , MT-ND6 , MT-TH , MT-TL2 , MT-TS2 NC_012920.1:m.12114_14420del2307deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420
29 MT-TL2 NC_012920.1:m.12271T>CSNV Pathogenic 430687 rs1131692061 MT:12271-12271 MT:12271-12271
30 MT-TL2 NC_012920.1:m.12283G>ASNV Pathogenic 430688 rs1131692062 MT:12283-12283 MT:12283-12283
31 NDUFA6 NM_002490.6(NDUFA6):c.355del (p.Leu119fs)deletion Pathogenic 549666 rs781099275 22:42482219-42482219 22:42086215-42086215
32 NDUFA6 NM_002490.6(NDUFA6):c.309del (p.Met104fs)deletion Pathogenic 549665 rs763006208 22:42482265-42482265 22:42086261-42086261
33 OXA1L NM_005015.5(OXA1L):c.320_327dup (p.Ser110fs)duplication Pathogenic 560159 rs1566433812 14:23237259-23237260 14:22768050-22768051
34 OXA1L NM_005015.5(OXA1L):c.440G>T (p.Cys147Phe)SNV Pathogenic 560160 rs772751581 14:23239000-23239000 14:22769791-22769791
35 OPA1 NM_015560.2(OPA1):c.1198C>T (p.Pro400Ser)SNV Pathogenic 426101 rs1553877864 3:193361219-193361219 3:193643430-193643430
36 NDUFAF8 NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val)SNV Pathogenic 691643 17:79213164-79213164 17:81239364-81239364
37 NDUFAF8 NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs)duplication Pathogenic 691644 17:79213202-79213203 17:81239402-81239403
38 MT-ND6 NC_012920.1:m.14513_14514deldeletion Pathogenic 800503 MT:14512-14513 MT:14512-14513
39 MT-ND1 NC_012920.1:m.3761C>ASNV Pathogenic 800504 MT:3761-3761 MT:3761-3761
40 MT-TF NC_012920.1(MT-CYB):m.590A>GSNV Pathogenic 870573 MT:590-590 MT:590-590
41 MT-TP NC_012920.1:m.15958A>TSNV Pathogenic 870596 MT:15958-15958 MT:15958-15958
42 TWNK NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)SNV Pathogenic 4618 rs111033573 10:102749042-102749042 10:100989285-100989285
43 TWNK NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro)SNV Pathogenic 4622 rs111033577 10:102749109-102749109 10:100989352-100989352
44 TWNK NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)SNV Pathogenic 4623 rs28937887 10:102748968-102748968 10:100989211-100989211
45 OPA1 NM_015560.2(OPA1):c.2708_2711delTTAGdeletion Pathogenic 5082 rs80356530 3:193384957-193384960 3:193667168-193667171
46 OPA1 NM_015560.2(OPA1):c.1334G>A (p.Arg445His)SNV Pathogenic 5091 rs80356529 3:193361785-193361785 3:193643996-193643996
47 MT-TK m.8344A>GSNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344
48 MT-TL1 NC_012920.1:m.3243A>GSNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
49 MT-ATP6 NC_012920.1:m.8993T>GSNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993
50 MT-ATP6 NC_012920.1:m.8993T>CSNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993

Expression for Mitochondrial Metabolism Disease

Search GEO for disease gene expression data for Mitochondrial Metabolism Disease.

Pathways for Mitochondrial Metabolism Disease

GO Terms for Mitochondrial Metabolism Disease

Cellular components related to Mitochondrial Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.67 YARS2 TWNK TRMT10C GFM2
2 mitochondrial membrane GO:0031966 9.62 TMEM126B OPA1 MT-ND6 MT-ND1
3 mitochondrial inner membrane GO:0005743 9.61 TMEM126B SPG7 SLC25A4 OPA1 MT-ND6 MT-ND5
4 mitochondrion GO:0005739 9.58 YARS2 TWNK TRMT10C TMEM126B SPG7 SLC25A4
5 respiratory chain GO:0070469 9.46 MT-ND6 MT-ND5 MT-ND1 MT-CO2
6 mitochondrial nucleoid GO:0042645 9.43 TWNK TRMT10C POLG

Biological processes related to Mitochondrial Metabolism Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 RRM2B MT-ND6 MT-ND5 MT-ND1 MT-CO2 GFER
2 mitochondrion organization GO:0007005 9.61 TWNK SPG7 OPA1
3 cellular response to glucose stimulus GO:0071333 9.54 TWNK POLG OPA1
4 positive regulation of mitochondrial translation GO:0070131 9.49 TRMT10C RMND1
5 mitochondrial fusion GO:0008053 9.48 SPG7 OPA1
6 response to hyperoxia GO:0055093 9.46 POLG MT-ATP6
7 mitochondrial genome maintenance GO:0000002 9.4 SLC25A4 OPA1
8 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.33 MT-ND6 MT-ND5 MT-ND1
9 ATP synthesis coupled electron transport GO:0042773 9.26 MT-ND5 MT-CO2
10 mitochondrial DNA replication GO:0006264 9.13 TWNK RRM2B POLG
11 mitochondrial respiratory chain complex I assembly GO:0032981 9.02 TMEM126B NDUFAF8 MT-ND6 MT-ND5 MT-ND1

Molecular functions related to Mitochondrial Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase activity GO:0003954 8.96 MT-ND5 MT-ND1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND6 MT-ND5 MT-ND1

Sources for Mitochondrial Metabolism Disease

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