MCID: MTC005
MIFTS: 48

Mitochondrial Metabolism Disease

Categories: Genetic diseases, 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
ICD10 32 E88.4
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 is Nucleotide Metabolism. The drugs Atorvastatin and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and liver.

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 464)
# Related Disease Score Top Affiliating Genes
1 mitochondrial disorders 35.8 YARS2 TWNK TRMT10C TMEM126B SPG7 SLC25A4
2 kearns-sayre syndrome 34.2 TWNK SPG7 SLC25A4 RRM2B POLG MT-TL1
3 chronic progressive external ophthalmoplegia 34.1 TWNK SPG7 SLC25A4 RRM2B POLG MT-TL1
4 mitochondrial myopathy 34.1 YARS2 TWNK SLC25A4 RRM2B POLG MT-TL1
5 myoclonic epilepsy associated with ragged-red fibers 33.7 TWNK POLG MT-TL1 MT-TK MT-ND6 MT-ND5
6 leigh syndrome 33.7 TWNK TMEM126B POLG NDUFAF8 MT-TL1 MT-TK
7 pearson marrow-pancreas syndrome 33.4 YARS2 TWNK POLG MT-TL1 MT-TK MT-ND6
8 mitochondrial dna depletion syndrome 33.1 TWNK RRM2B POLG
9 mitochondrial complex i deficiency, nuclear type 1 33.1 TMEM126B MT-ND6 MT-ND1 MT-ATP6
10 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 33.0 POLG MT-TK MT-ATP6
11 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 32.8 TWNK POLG
12 lactic acidosis 32.7 YARS2 RRM2B RMND1 POLG MT-TL1 MT-TK
13 mitochondrial encephalomyopathy 32.4 TWNK POLG OPA1 MT-TL1 MT-TK MT-ND6
14 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.3 YARS2 TWNK TMEM126B POLG MT-TL1 MT-TK
15 optic nerve disease 32.3 TWNK SPG7 POLG OPA1 MT-TK MT-ND6
16 leber optic atrophy 32.3 TWNK TMEM126B SPG7 SLC25A4 POLG OPA1
17 3-methylglutaconic aciduria, type iii 32.1 TWNK SPG7 SLC25A4 RRM2B POLG OPA1
18 neuropathy 32.0 TWNK POLG OPA1 MT-ND6 MT-ND5 MT-ND1
19 ptosis 31.9 TWNK RRM2B POLG OPA1 MT-TK MT-ND1
20 early myoclonic encephalopathy 31.9 POLG MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ATP6
21 hereditary optic neuropathy 31.8 MT-ND6 MT-ND5 MT-ND1 MT-ATP6
22 retinitis pigmentosa 31.8 SPG7 POLG OPA1 MT-TL1 MT-TK MT-ND6
23 peripheral nervous system disease 31.8 TWNK POLG OPA1 MT-TK MT-ND6 MT-ND1
24 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 31.6 TWNK POLG
25 polyneuropathy 31.4 TWNK SPG7 POLG MT-ATP6
26 autosomal dominant progressive external ophthalmoplegia 31.4 TWNK SLC25A4 RRM2B POLG OPA1
27 mitochondrial neurogastrointestinal encephalomyopathy 31.3 RRM2B POLG
28 diabetes and deafness, maternally inherited 31.2 MT-TL1 MT-TK
29 axonal neuropathy 31.2 TWNK SLC25A4 RRM2B POLG
30 ataxia neuropathy spectrum 31.1 TWNK POLG
31 polg-related disorders 31.0 TWNK POLG
32 sensorineural hearing loss 31.0 OPA1 MT-TL1 MT-ND6 GFER
33 muscular disease 30.9 TWNK SLC25A4 POLG MT-TL1 MT-TK MT-ND6
34 mitochondrial myopathy, infantile, transient 30.7 MT-ND5 MT-ND1 MT-ATP6
35 spastic paraplegia 7, autosomal recessive 30.5 SPG7 OPA1
36 leber optic atrophy and dystonia 30.5 MT-ND6 MT-ND1
37 perrault syndrome 30.5 YARS2 TWNK SPG7
38 charcot-marie-tooth hereditary neuropathy 30.4 SPG7 MT-ATP6
39 hsd10 mitochondrial disease 12.4
40 rrm2b-related mitochondrial disease 12.2
41 mitochondrial disease with epilepsy 12.2
42 mitochondrial disease with dilated cardiomyopathy 12.0
43 mitochondrial disease with hypertrophic cardiomyopathy 12.0
44 mitochondrial disease with peripheral neuropathy 12.0
45 obsolete: mitochondrial disease with eye involvement 12.0
46 combined oxidative phosphorylation deficiency 3 12.0
47 hypotonia-cystinuria syndrome 11.5
48 mitochondrial myopathy, lethal, infantile 11.3
49 ataxia and polyneuropathy, adult-onset 11.3
50 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.3

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 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 4 134523-00-5 60823
2 Hypolipidemic Agents Phase 4
3 Anticholesteremic Agents Phase 4
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
5 insulin Phase 4
6 Insulin, Globin Zinc Phase 4
7 Lipid Regulating Agents Phase 4
8 Antimetabolites Phase 4
9
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
10 Ubiquinone Phase 3
11
Icatibant Approved, Investigational Phase 2 130308-48-4, 138614-30-9 71364
12
Metformin Approved Phase 2 657-24-9 14219 4091
13
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
14
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
15
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
16
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
17
Bradykinin Investigational Phase 2 58-82-2 439201
18 Tocotrienol Investigational Phase 2 6829-55-6
19 Analgesics, Non-Narcotic Phase 2
20 Analgesics Phase 2
21 Vitamins Phase 1, Phase 2
22 Immunologic Factors Phase 2
23 Anti-Inflammatory Agents Phase 2
24 Anti-Inflammatory Agents, Non-Steroidal Phase 2
25 Kininogens Phase 2
26 Antirheumatic Agents Phase 2
27 Immunosuppressive Agents Phase 2
28 Complement System Proteins Phase 2
29 Bradykinin Receptor Antagonists Phase 2
30 Complement Inactivating Agents Phase 2
31 Analgesics, Opioid Phase 2
32 Hypoglycemic Agents 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 carnitine Phase 1
40 Vitamin B Complex Phase 1
41 Alpha-lipoic Acid Phase 1
42 Vitamin B9 Phase 1
43 Folate Phase 1
44 Thioctic Acid Phase 1
45 Nutrients Phase 1
46 Trace Elements Phase 1
47 Micronutrients Phase 1
48 Neurotransmitter Agents Phase 1
49 Antioxidants Phase 1
50 Protective Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 76)
# 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 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
4 A Phase 1/2 Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study Investigating the Safety, Tolerability, and Efficacy of Intravenous MTP-131 for the Treatment of Mitochondrial Myopathy in Subjects With Genetically Confirmed Mitochondrial Disease Completed NCT02367014 Phase 1, Phase 2 MTP-131;MTP-131;MTP-131;Placebo
5 Therapeutic Trial of EPI -743 In Patients With Disorders of Energy Utilization or Oxidation-Reduction Completed NCT01642056 Phase 1, Phase 2 EPI-743;Placebo
6 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
7 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
8 Mitochondrial Dysfunction in Chronic Kidney Disease Completed NCT03177798 Phase 2 Icatibant;Placebo
9 Heart Rate Variability in Response to Metformin Challenge Completed NCT02500628 Phase 2 Metformin
10 A Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
11 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
12 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
13 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) Active, not recruiting NCT02976038 Phase 2 elamipretide
14 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
15 The Safety, Tolerability, Pharmacodynamics, and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase (EE-TP) in Patients With MNGIE Not yet recruiting NCT03866954 Phase 2
16 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
17 An Open-Label Phase 2 Safety and Efficacy Study of EPI-743 (VincerinoneTM) in Children With Pearson Syndrome Terminated NCT02104336 Phase 2 EPI-743
18 Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)? Unknown status NCT02348125 Phase 1 Mitochondrial Cocktail
19 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
20 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
21 Open-Trial of EPI-743 for Adults With Tourette Syndrome Completed NCT01719523 Phase 1 EPI-743
22 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
23 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
24 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)
25 Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability. Unknown status NCT00831948
26 Biomarkers in Exhaled Breath Condensates of Septic Patients to Predict Development of Multi-organ Dysfunction Syndrome Unknown status NCT01503684
27 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
28 Survey on Supplement Use in Mitochondrial Disease Completed NCT02311257
29 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy Completed NCT01301235
30 Calf Muscle Strength in Patients Affected by Mitochondrial Diseases as Compared to Healthy Individuals Completed NCT02678637
31 Mitochondria in HIV and Aging (MITO+) Completed NCT03489421
32 Non-invasive Measurement of Energy Metabolism in Patients With Primary and Secondary Mitochondrial Diseases Completed NCT03917212
33 Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques. Completed NCT00829270
34 Energy Requirements in Metabolic and Mitochondrial Disease Completed NCT01776918
35 A Prospective Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300) Completed NCT03048617
36 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
37 Investigation of the Nature and Prevalence of Mitochondria Disease Completed NCT00786539
38 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
39 Mechanisms of Mitochondrial Defects in Gulf War Syndrome Completed NCT01264471
40 Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia Completed NCT02161848
41 Diagnostic Odyssey Survey 2 Completed NCT03678740
42 Acute Nutritional Ketosis in VLCAD Deficiency: Testing the Metabolic Base for Therapeutic Use Completed NCT03531554
43 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
44 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067
45 Acute Effects of Dietary Glycemic Index on Lactate and Glucose Homeostasis in Individuals With Primary Mitochondrial Disease Completed NCT02284334
46 Study of Interaction Between Adipose and Muscle Tissues in the Control of Muscle Mitochondrial Functions Completed NCT00446745
47 DINAMITE Study: An Explorative Study of the Effect of Dietary Intervention on Body Function and Quality of Life in Adults With Mitochondrial Disease Caused by the m.3243A>G Mutation. Completed NCT02286856
48 Phase II Feasibility Study of the Efficacy and Acceptability of a Low Residue Diet in Adult Patients With Mitochondrial Disease Completed NCT03388528
49 GDF-15 as a Biomarker for Mitochondrial Disease Completed NCT02745938
50 Assessment and Prevalence of Gastrointestinal Dysfunction in Children With Mitochondrial Disorders (MD) Completed NCT01137240

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, Liver, Skeletal Muscle, Skin, Eye, Testes

Publications for Mitochondrial Metabolism Disease

Articles related to Mitochondrial Metabolism Disease:

(show top 50) (show all 1886)
# 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. 54 61
20049744 2009
7
The unfolding clinical spectrum of POLG mutations. 54 61
19578034 2009
8
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 54 61
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. 54 61
19513667 2009
11
False positive results of mitochondrial DNA depletion/deletion due to single nucleotide substitutions causing appearance of additional PvuII restriction sites. 54 61
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. 54 61
17384007 2007
14
Two components in pathogenic mechanism of mitochondrial ATPase deficiency: energy deprivation and ROS production. 54 61
16581217 2006
15
Clinical and genetic uniqueness in an individual with MELAS. 54 61
16741938 2006
16
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. 54 61
16685652 2006
17
Consequences of mutations in human DNA polymerase gamma. 54 61
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. 54 61
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. 54 61
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. 54 61
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. 54 61
11403514 2001
30
Mitochondrial respiratory chain activity in idiopathic dilated cardiomyopathy. 54 61
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. 54 61
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. 54 61
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? 54 61
18653097 1996
36
Structure, expression, and chromosomal assignment of the human gene encoding nuclear respiratory factor 1. 54 61
7629110 1995
37
Regulation of mitochondrial energy generation in health and disease. 54 61
7599196 1995
38
Myogenic hyperuricemia: what can we learn from metabolic myopathies? 54 61
7603532 1995
39
Chronic pain as a neglected core symptom in mitochondrial diseases. 61
32015173 2020
40
Myopathy reversion in mice after restauration of mitochondrial complex I. 61
31916679 2020
41
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations. 61
32011699 2020
42
Construct Validity of the Observable Movement Quality Scale in Pediatrics: Hypothesis Testing of a Formative Measurement Model. 61
32031656 2020
43
Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children. 61
32020156 2020
44
Mitotherapy as a Novel Therapeutic Strategy for Mitochondrial Diseases. 61
31345157 2020
45
Drug Development for the Therapy of Mitochondrial Diseases. 61
31727544 2020
46
Integrative omics approaches provide biological and clinical insights: examples from mitochondrial diseases. 61
31895050 2020
47
The changing landscape of clinical trials for mitochondrial diseases: 2011 to present. 61
31669619 2020
48
Techniques for investigating mitochondrial gene expression. 61
31818361 2020
49
Higd1a improves respiratory function in the models of mitochondrial disorder. 61
31914602 2020
50
Modular biogenesis of mitochondrial respiratory complexes. 61
31669617 2020

Variations for Mitochondrial Metabolism Disease

ClinVar genetic disease variations for Mitochondrial Metabolism Disease:

6 (show top 50) (show all 107) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPG7 NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)SNV Pathogenic 188276 rs369227537 16:89616910-89616910 16:89550502-89550502
2 SPG7 NM_003119.4(SPG7):c.861dup (p.Asn288Ter)duplication Pathogenic 212294 rs797046003 16:89595983-89595984 16:89529575-89529576
3 MT-ATP6 NC_012920.1:m.8839G>CSNV Pathogenic 155892 rs1556423547 MT:8839-8839 MT:8839-8839
4 TRMT10C NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu)SNV Pathogenic 224316 rs199730889 3:101284167-101284167 3:101565323-101565323
5 TRMT10C NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala)SNV Pathogenic 224317 rs875989831 3:101284439-101284439 3:101565595-101565595
6 RMND1 NM_017909.4(RMND1):c.1317+1G>TSNV Pathogenic 225259 rs886037773 6:151726854-151726854 6:151405719-151405719
7 RMND1 NM_017909.4(RMND1):c.1303C>T (p.Leu435Phe)SNV Pathogenic 225256 rs886037771 6:151726869-151726869 6:151405734-151405734
8 RMND1 NM_017909.4(RMND1):c.830+1G>ASNV Pathogenic 225261 rs773470671 6:151748616-151748616 6:151427481-151427481
9 RMND1 NM_017909.4(RMND1):c.631G>A (p.Val211Met)SNV Pathogenic 225260 rs771894262 6:151754348-151754348 6:151433213-151433213
10 RMND1 NM_017909.4(RMND1):c.565C>T (p.Gln189Ter)SNV Pathogenic 225257 rs886037772 6:151757629-151757629 6:151436494-151436494
11 RMND1 NM_017909.4(RMND1):c.533C>A (p.Thr178Lys)SNV Pathogenic 225258 rs370863743 6:151757661-151757661 6:151436526-151436526
12 TWNK NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)SNV Pathogenic 4618 rs111033573 10:102749042-102749042 10:100989285-100989285
13 TWNK NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro)SNV Pathogenic 4622 rs111033577 10:102749109-102749109 10:100989352-100989352
14 TWNK NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)SNV Pathogenic 4623 rs28937887 10:102748968-102748968 10:100989211-100989211
15 OPA1 NM_015560.2(OPA1):c.2708_2711delTTAGdeletion Pathogenic 5082 rs80356530 3:193384957-193384960 3:193667168-193667171
16 OPA1 NM_015560.2(OPA1):c.1334G>A (p.Arg445His)SNV Pathogenic 5091 rs80356529 3:193361785-193361785 3:193643996-193643996
17 MT-TK m.8344A>GSNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344
18 MT-TL1 NC_012920.1:m.3243A>GSNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
19 MT-ATP6 NC_012920.1:m.8993T>GSNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993
20 MT-ATP6 NC_012920.1:m.8993T>CSNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993
21 MT-ATP6 NC_012920.1:m.9185T>CSNV Pathogenic 9647 rs199476138 MT:9185-9185 MT:9185-9185
22 MT-ND5 m.13513G>ASNV Pathogenic 9702 rs267606897 MT:13513-13513 MT:13513-13513
23 POLG NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys)SNV Pathogenic 13495 rs113994099 15:89864114-89864114 15:89320883-89320883
24 POLG NM_002693.2(POLG):c.3488T>G (p.Met1163Arg)SNV Pathogenic 21314 rs113994100 15:89860762-89860762 15:89317531-89317531
25 POLG NM_002693.2(POLG):c.3630dup (p.Gly1211fs)duplication Pathogenic 21315 rs113994101 15:89860619-89860620 15:89317388-89317389
26 RRM2B NM_001172477.1(RRM2B):c.1166del (p.Ser388_Leu389insTer)deletion Pathogenic 30432 rs515726199 8:103220467-103220467 8:102208239-102208239
27 OPA1 NM_015560.2(OPA1):c.1294A>G (p.Ile432Val)SNV Pathogenic 30460 rs387906899 3:193361398-193361398 3:193643609-193643609
28 OPA1 NM_015560.2(OPA1):c.1635C>G (p.Ser545Arg)SNV Pathogenic 30461 rs398124298 3:193364899-193364899 3:193647110-193647110
29 POLG NM_002693.2(POLG):c.695G>A (p.Arg232His)SNV Pathogenic 21319 rs113994093 15:89873472-89873472 15:89330241-89330241
30 RMND1 NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln)SNV Pathogenic 39765 rs397515421 6:151726922-151726922 6:151405787-151405787
31 RRM2B NM_001172477.1(RRM2B):c.-5G>ASNV Pathogenic 132103 rs515726180 8:103251055-103251055 8:102238827-102238827
32 RMND1 NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)SNV Pathogenic 143051 rs115079861 6:151726371-151726371 6:151405236-151405236
33 TMEM126B NM_018480.5(TMEM126B):c.401del (p.Asn134fs)deletion Pathogenic 236208 rs886037835 11:85346713-85346713 11:85635669-85635669
34 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
35 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
36 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
37 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
38 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
39 MT-CO2 NC_012920.1:m.7989T>CSNV Pathogenic 430690 rs1131692064 MT:7989-7989 MT:7989-7989
40 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
41 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
42 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
43 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
44 GFM2 NM_032380.5(GFM2):c.636del (p.Glu213fs)deletion Pathogenic 440787 rs746538436 5:74041963-74041963 5:74746138-74746138
45 GFM2 NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser)SNV Pathogenic 440788 rs1554042187 5:74054703-74054703 5:74758878-74758878
46 TOP3A NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter)SNV Pathogenic 446286 rs200944917 17:18208522-18208522 17:18305208-18305208
47 TOP3A NM_004618.5(TOP3A):c.298A>G (p.Met100Val)SNV Pathogenic 446285 rs376902371 17:18211681-18211681 17:18308367-18308367
48 NDUFA6 NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs)deletion Pathogenic 487475 rs1569463838 22:42482242-42482243 22:42086238-42086239
49 NDUFA6 NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter)SNV Pathogenic 487478 rs758833609 22:42482309-42482309 22:42086305-42086305
50 NDUFA6 NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro)SNV Pathogenic 487477 rs750830935 22:42483128-42483128 22:42087124-42087124

Expression for Mitochondrial Metabolism Disease

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

Pathways for Mitochondrial Metabolism Disease

Pathways related to Mitochondrial Metabolism Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 RRM2B POLG

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 9.55 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:

# 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 9.48 TRMT10C RMND1
5 response to hyperoxia GO:0055093 9.46 POLG MT-ATP6
6 mitochondrial genome maintenance GO:0000002 9.4 SLC25A4 OPA1
7 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.33 MT-ND6 MT-ND5 MT-ND1
8 ATP synthesis coupled electron transport GO:0042773 9.26 MT-ND5 MT-CO2
9 mitochondrial DNA replication GO:0006264 9.13 TWNK RRM2B POLG
10 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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