MCID: MTC005
MIFTS: 38

Mitochondrial Metabolism Disease

Categories: Metabolic diseases

Aliases & Classifications for Mitochondrial Metabolism Disease

MalaCards integrated aliases for Mitochondrial Metabolism Disease:

Name: Mitochondrial Metabolism Disease 12 14
Mitochondrial Diseases 42 69
Abnormality of Mitochondrial Metabolism 29

Classifications:



External Ids:

Disease Ontology 12 DOID:700
MeSH 42 D028361
SNOMED-CT 64 240096000
UMLS 69 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 mitochondrial diseases, is related to mitochondrial complex i deficiency and hsd10 mitochondrial disease. An important gene associated with Mitochondrial Metabolism Disease is MT-ATP6 (Mitochondrially Encoded ATP Synthase 6), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Dopamine and Stavudine have been mentioned in the context of this disorder. Affiliated tissues include liver, heart 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 53)
id Related Disease Score Top Affiliating Genes
1 mitochondrial complex i deficiency 32.0 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFV1 TMEM126B
2 hsd10 mitochondrial disease 11.9
3 rrm2b-related mitochondrial disease 11.8
4 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.6
5 mitochondrial disorders 11.4
6 combined oxidative phosphorylation deficiency 3 11.3
7 chronic progressive external ophthalmoplegia 11.1
8 hypoaldosteronism 11.0 POLG SURF1
9 congenital pulmonary veins atresia or stenosis 11.0 MT-TL1 MT-TL2
10 kearns-sayre syndrome 11.0
11 mitochondrial dna depletion syndrome, mgme1-related 11.0 MT-ATP6 MT-TL1 MT-TL2
12 distal hereditary motor neuropathy type v 11.0 MT-TE MT-TK MT-TL1
13 moved to {607459} 11.0 MT-TE MT-TK MT-TL1
14 parkinson disease 6, early onset 10.9 MT-ND5 MT-ND6
15 sparganosis 10.9 MT-ND3 MT-ND5 MT-TL1
16 penis sarcoma 10.9 MT-ND6 POLG TIMM8A
17 pleomorphic carcinoma 10.9 MT-ND5 MT-ND6 POLG
18 mhs3-related malignant hyperthermia susceptibility 10.9 MT-TK MT-TL1
19 dyscalculia 10.9 MT-TK MT-TL2 POLG SLC25A4
20 mitochondrial encephalomyopathy 10.9
21 multiple epiphyseal dysplasia with robin phenotype 10.9 MT-CO2 MT-ND5 MT-TK MT-TL1
22 achalasia, familial esophageal 10.8 MT-CO2 MT-TK
23 congenital fiber-type disproportion 10.8 MT-ATP6 MT-TK
24 allergic contact dermatitis of eyelid 10.8 MT-ND5 MT-ND6 NDUFA1
25 cutaneous mastocytosis 10.8 MT-ATP6 MT-ND5 MT-ND6 POLG RMND1
26 decubitus ulcer 10.8 MT-ATP6 MT-ND5 MT-ND6 POLG
27 leiner disease 10.8 MT-ND3 MT-ND6
28 mitochondrial complex iv deficiency 10.7 LRPPRC MT-CO2 MT-TL1 SCO2 SURF1
29 cardiomyopathy and deafness due to trna lysine gene mutation 10.7 SCO2 SURF1
30 leigh syndrome 10.7
31 mitochondrial complex v deficiency, nuclear type 2 10.7
32 mitochondrial complex ii deficiency 10.7
33 mitochondrial complex iii deficiency, nuclear type 5 10.7
34 mitochondrial complex iii deficiency, nuclear type 2 10.7
35 mitochondrial complex v deficiency, nuclear type 1 10.7
36 mitochondrial complex deficiency, nuclear type 4 10.7
37 ethylmalonic encephalopathy 10.7
38 mohr-tranebjaerg syndrome 10.7
39 pearson marrow-pancreas syndrome 10.7
40 fatal infantile encephalocardiomyopathy 10.7
41 coenzyme q10 deficiency disease 10.7
42 mitochondrial neurogastrointestinal encephalopathy disease 10.7 MT-ATP6 MT-ND3 MT-ND5 MT-ND6 MT-TK MT-TL1
43 extrapontine myelinolysis 10.7 MT-ND3 MT-ND5
44 mixed germ cell tumor of central nervous system 10.7 NDUFV1 SURF1
45 dermatophytosis 10.6 MT-CO2 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TL2
46 mental retardation with spastic paraplegia 10.6 MT-ATP6 MT-CO2 MT-ND5 MT-ND6 MT-TK MT-TL1
47 enchondromatosis dwarfism deafness 10.6 MT-ND5 MT-ND6
48 androgen insensitivity 10.6 MT-ATP6 MT-ND3 MT-ND5 MT-ND6 MT-TE MT-TK
49 myoclonic epilepsy associated with ragged-red fibers 10.6 MT-ATP6 MT-CO2 MT-ND3 MT-ND5 MT-ND6 MT-TK
50 b9d2-related meckel syndrome 10.4 POLG SLC25A4

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 267)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
2
Stavudine Approved, Investigational Phase 4,Phase 2 3056-17-5 18283
3
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
4
Lopinavir Approved Phase 4 192725-17-0 92727
5
Zidovudine Approved Phase 4,Phase 2 30516-87-1 35370
6
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
7
Bezafibrate Approved Phase 4,Phase 2 41859-67-0 39042
8
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
9
Metformin Approved Phase 4,Phase 2,Phase 1 657-24-9 14219 4091
10
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
11
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
12
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
13
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
14
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
15
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
16
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
17
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
18
Pravastatin Approved Phase 4 81093-37-0 54687
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1 59-30-3 6037
20
Riboflavin Approved, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
21
Thiamine Approved, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
22 tannic acid Approved, Nutraceutical Phase 4
23 Liver Extracts Phase 4
24 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
25 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
26 Vitamins Phase 4,Phase 2,Phase 3,Phase 1
27 insulin Phase 4,Phase 3,Phase 2,Phase 1
28 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1
29 Central Nervous System Stimulants Phase 4,Phase 2
30 Dopamine Agents Phase 4,Phase 2
31 Dopamine Uptake Inhibitors Phase 4,Phase 2
32 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
33 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2
34 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Vaccines Phase 4
36 Dermatologic Agents Phase 4
37 Photosensitizing Agents Phase 4
38 Vitamin B Complex Phase 4,Phase 1
39 Anti-HIV Agents Phase 4,Phase 2
40 Anti-Infective Agents Phase 4,Phase 2
41 Antimetabolites Phase 4,Phase 3,Phase 2
42 Anti-Retroviral Agents Phase 4,Phase 2
43 Antiviral Agents Phase 4,Phase 2
44 Cytochrome P-450 CYP3A Inhibitors Phase 4
45 Cytochrome P-450 Enzyme Inhibitors Phase 4
46 HIV Protease Inhibitors Phase 4,Phase 1
47 Lamivudine, zidovudine drug combination Phase 4
48 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2
49
protease inhibitors Phase 4,Phase 1
50 Reverse Transcriptase Inhibitors Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 211)

id Name Status NCT ID Phase Drugs
1 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
2 Lactate Metabolism Study in HIV Infected Persons Completed NCT00202228 Phase 4 cofactor supplementation (thiamine, riboflavin, L-carnitine)
3 Seronegatives and Metabolic Abnormalities Protocol 2 (SAMA002): Study to Compare the Effect of Kaletra and Combivir® in HIV-Negative Healthy Subjects Completed NCT00192621 Phase 4 Combivir (zidovudine [AZT] / lamivudine [3TC]);Kaletra (lopinavir [LPVr])
4 Living With Statins - The Impact of Cholesterol Lowering Drugs on Health, Lifestyle and Well-being Completed NCT02255682 Phase 4 Simvastatin
5 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
6 Myocardial Dysfunction in Type 2 Diabetes Mellitus (T2DM) Completed NCT01588470 Phase 4 pioglitazone
7 Living With Statins - Interventional Exercise Study Recruiting NCT02796378 Phase 4 Training+Simvastatin+Q10-placebo;Training+Simvastatin-placebo+Q10-placebo;Training+Simvastatin+Q10
8 A Randomized Double-Blind Controlled Trial of Creatine in Female Methamphetamine Users Recruiting NCT02192931 Phase 4 Creatine monohydrate
9 Sildenafil Activates Browning of White Adipose and Improves Insulin Sensitivity Recruiting NCT02524184 Phase 4 sildenafil;placebo
10 Effect of Metformin on Vascular and Mitochondrial Function in Type 1 Diabetes Active, not recruiting NCT01813929 Phase 4 Metformin;Placebo
11 Differences Between Stavudine and Tenofovir Each Combined With Lamivudine and Efavirenz in SA HIV-infected Patients Terminated NCT01601899 Phase 4 Stavudine;Stavudine;Tenofovir
12 Metformin for the Treatment of Nonalcoholic Fatty Liver Disease (NAFLD) Terminated NCT00736385 Phase 4 Glucophage (Metformin);Placebo
13 Switching From Efavirenz to Atazanavir/ Ritonavir in HIV-infected Subjects With Good Virologic Suppression Terminated NCT01194856 Phase 4 Atazanavir/ritonavir;Efavirenz
14 Safety Study of Ciclopirox Olamine Cream for Dermatomycoses in Children Terminated NCT01646580 Phase 4 ciclopirox
15 Evaluation of Myocardial Improvement in Patients Supported by Ventricular Assist Device Under Optimal Pharmacological Therapy Terminated NCT00402376 Phase 4 Pravastatin, Carvedilol, Perindopril
16 Effect of Micronutrients and Exercise During Pregnancy on Factors Related With Non-Transmissible Chronic Diseases Unknown status NCT00872365 Phase 2, Phase 3
17 Oxygen Therapy in Schizophrenia Unknown status NCT00525863 Phase 3 oxygen
18 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
19 Phase III Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3 CoenzymeQ10;Placebo
20 Randomized Trial of a Nutritional Supplement in Alzheimer's Disease Completed NCT00678431 Phase 3
21 Medium-term Effects of Molecular Hydrogen on Metabolic Fitness in Obesity Completed NCT02832219 Phase 3
22 Effect of Vitamin D Supplementation on Exercise Adaptations in Patients on Statin Therapy Completed NCT02030041 Phase 3 Vitamin D;Simvastatin;Placebo
23 Resveratrol In Chronic Obstructive Pulmonary Disease (COPD) Patients (CARMENS-trial) Recruiting NCT02245932 Phase 3
24 Effects of Acipimox on Insulin Action, Vascular Function, and Muscle Function in Type 1 Diabetes Active, not recruiting NCT01816165 Phase 3 Acipimox;Placebo
25 A Trial to Evaluate the Safety and Efficacy of Elamipretide in Subjects With Primary Mitochondrial Myopathy Followed by an Open-Label Extension Not yet recruiting NCT03323749 Phase 3
26 Trial of Kuvan in Lesch-Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3 sapropterin
27 Mitochondrial Oxidation and Insulin Resistance in Burn Patients Treated With Fenofibrate Withdrawn NCT00732485 Phase 2, Phase 3 fenofibrate;placebo
28 The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease Unknown status NCT00457314 Phase 2
29 The Synergy Trial: Methylphenidate Plus a CFS-Specific Nutrient Formula as a Treatment for Chronic Fatigue Syndrome Unknown status NCT01966276 Phase 2 Methyl-P plus Nutrient Formula;Methyl-P plus Nutrient matched placebos
30 Effect of Resveratrol on Age-related Insulin Resistance and Inflammation in Humans Unknown status NCT01354977 Phase 2 Resveratrol
31 A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial Disease Completed NCT02473445 Phase 2 Cysteamine Bitartrate Delayed-release Capsules
32 Effectiveness of Nucleoside Supplementation or Switch to Tenofovir in Reversing Fat Loss in HIV Infected Adults Completed NCT00119379 Phase 2 NucleomaxX;Tenofovir Disoproxil Fumarate
33 Metabolic Mapping to Measure Retinal Metabolism Completed NCT00385333 Phase 2
34 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2 L-Arginine
35 Substrate Cycling in Energy Metabolism Completed NCT00361751 Phase 2 fenofibrate
36 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
37 Effects of Uridine Supplementation on Metabolic Side Effects of Stavudine and Zidovudine Completed NCT00471614 Phase 2 NucleomaxX (contains uridine)
38 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
39 The Safety and Efficacy of DCA for the Treatment of Brain Cancer Completed NCT00540176 Phase 2 Dichloroacetate (DCA)
40 A Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
41 Clinical Trial of Creatine in Amyotrophic Lateral Sclerosis Completed NCT00005766 Phase 2 Creatinine
42 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
43 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
44 Rosiglitazone to Reverse Metabolic Defects in Diabetes Completed NCT00094796 Phase 2
45 Idebenone to Treat Friedreich's Ataxia Completed NCT00229632 Phase 2 Idebenone
46 Heart Rate Variability in Response to Metformin Challenge Completed NCT02500628 Phase 2 Metformin
47 Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Completed NCT00983788 Phase 2 Bezafibrate
48 Exercise Study Testing Enhanced Energetics of Muscle Mitochondria in CKD Recruiting NCT02923063 Phase 2
49 Trial of Oral Glutamine on Mitochondrial Function in CKD Recruiting NCT02838979 Phase 2
50 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)

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:

id Genetic test Affiliating Genes
1 Abnormality of Mitochondrial Metabolism 29

Anatomical Context for Mitochondrial Metabolism Disease

MalaCards organs/tissues related to Mitochondrial Metabolism Disease:

39
Liver, Heart, Skeletal Muscle, Endothelial, Testes, Bone, Ovary

Publications for Mitochondrial Metabolism Disease

Variations for Mitochondrial Metabolism Disease

ClinVar genetic disease variations for Mitochondrial Metabolism Disease:

6 (show all 39)
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
2 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh37 Chromosome MT, 14709: 14709
3 MT-TE m.14674T> C single nucleotide variant Pathogenic rs387906421 GRCh37 Chromosome MT, 14674: 14674
4 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
5 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
6 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
7 MT-ND5; MT-TL1 m.13513G> A single nucleotide variant Pathogenic rs267606897 GRCh37 Chromosome MT, 13513: 13513
8 POLG NM_002693.2(POLG): c.3488T> G (p.Met1163Arg) single nucleotide variant Pathogenic rs113994100 GRCh37 Chromosome 15, 89860762: 89860762
9 POLG NM_002693.2(POLG): c.3630dupC (p.Gly1211Argfs) duplication Pathogenic rs113994101 GRCh37 Chromosome 15, 89860620: 89860620
10 POLG NM_002693.2(POLG): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs113994093 GRCh37 Chromosome 15, 89873472: 89873472
11 RMND1 NM_017909.3(RMND1): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs397515421 GRCh37 Chromosome 6, 151726922: 151726922
12 RMND1 NM_017909.3(RMND1): c.1349G> C (p.Ter450Ser) single nucleotide variant Pathogenic rs115079861 GRCh37 Chromosome 6, 151726371: 151726371
13 MT-ATP6 NC_012920.1: m.8839G> C single nucleotide variant Pathogenic rs369202065 GRCh37 Chromosome MT, 8839: 8839
14 RMND1 NM_017909.3(RMND1): c.1317+1G> T single nucleotide variant Pathogenic rs886037773 GRCh37 Chromosome 6, 151726854: 151726854
15 RMND1 NM_017909.3(RMND1): c.1303C> T (p.Leu435Phe) single nucleotide variant Pathogenic rs886037771 GRCh37 Chromosome 6, 151726869: 151726869
16 RMND1 NM_017909.3(RMND1): c.830+1G> A single nucleotide variant Pathogenic rs773470671 GRCh37 Chromosome 6, 151748616: 151748616
17 RMND1 NM_017909.3(RMND1): c.631G> A (p.Val211Met) single nucleotide variant Pathogenic rs771894262 GRCh37 Chromosome 6, 151754348: 151754348
18 RMND1 NM_017909.3(RMND1): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs886037772 GRCh38 Chromosome 6, 151436494: 151436494
19 RMND1 NM_017909.3(RMND1): c.533C> A (p.Thr178Lys) single nucleotide variant Pathogenic rs370863743 GRCh37 Chromosome 6, 151757661: 151757661
20 TMEM126B NM_018480.5(TMEM126B): c.401delA (p.Asn134Ilefs) deletion Pathogenic rs886037835 GRCh37 Chromosome 11, 85346714: 85346714
21 TMEM126B NM_018480.5(TMEM126B): c.635G> T (p.Gly212Val) single nucleotide variant Pathogenic rs141542003 GRCh37 Chromosome 11, 85347215: 85347215
22 SLC25A4 NM_001151.3(SLC25A4): c.239G> A (p.Arg80His) single nucleotide variant Pathogenic/Likely pathogenic rs886041081 GRCh38 Chromosome 4, 185144891: 185144891
23 SLC25A4 NM_001151.3(SLC25A4): c.703C> G (p.Arg235Gly) single nucleotide variant Pathogenic rs886041082 GRCh38 Chromosome 4, 185145863: 185145863
24 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1: m.10106_15067del4962 deletion Pathogenic GRCh37 Chromosome MT, 10106: 15067
25 MT-CYB; MT-ND4; MT-ND5; MT-ND6; MT-TE; MT-TH; MT-TL2; MT-TS2 NC_012920.1: m.11263_15374del4112 deletion Pathogenic GRCh37 Chromosome MT, 11263: 15374
26 MT-ND4; MT-ND5; MT-ND6; MT-TH; MT-TL2; MT-TS2 NC_012920.1: m.12114_14420del2307 deletion Pathogenic GRCh37 Chromosome MT, 12114: 14420
27 MT-TL2 NC_012920.1: m.12271T> C single nucleotide variant Pathogenic rs1131692061 GRCh37 Chromosome MT, 12271: 12271
28 MT-TL2 NC_012920.1: m.12283G> A single nucleotide variant Pathogenic rs1131692062 GRCh37 Chromosome MT, 12283: 12283
29 MT-ND5 NC_012920.1: m.13051G> A single nucleotide variant Pathogenic rs1131692063 GRCh37 Chromosome MT, 13051: 13051
30 covers 13 genes, none of which curated to show dosage sensitivity NC_012920.1: m.6003_11220del5218 deletion Pathogenic GRCh37 Chromosome MT, 6003: 11220
31 covers 20 genes, none of which curated to show dosage sensitivity NC_012920.1: m.6469_15587del9119 deletion Pathogenic GRCh37 Chromosome MT, 6469: 15587
32 covers 17 genes, none of which curated to show dosage sensitivity NC_012920.1: m.7129_13991del6863 deletion Pathogenic GRCh37 Chromosome MT, 7129: 13991
33 MT-ATP6; MT-ATP8; MT-CO2; MT-CO3; MT-ND3; MT-ND4; MT-ND4L; MT-TG; MT-TK; MT-TR NC_012920.1: m.7730_11255del3526 deletion Pathogenic GRCh37 Chromosome MT, 7730: 11255
34 MT-CO2 NC_012920.1: m.7989T> C single nucleotide variant Pathogenic rs1131692064 GRCh37 Chromosome MT, 7989: 7989
35 covers 13 genes, none of which curated to show dosage sensitivity NC_012920.1: m.8290_13040del4751 deletion Pathogenic GRCh37 Chromosome MT, 8290: 13040
36 covers 12 genes, none of which curated to show dosage sensitivity NC_012920.1: m.8483_13459del4977 deletion Pathogenic GRCh37 Chromosome MT, 8483: 13459
37 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1: m.8587_12967del4381 deletion Pathogenic GRCh37 Chromosome MT, 8587: 12967
38 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1: m.8815_13722del4908 deletion Pathogenic GRCh37 Chromosome MT, 8815: 13722
39 covers 14 genes, none of which curated to show dosage sensitivity NC_012920.1: m.8839_14895del6057 deletion Pathogenic GRCh37 Chromosome MT, 8839: 14895

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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.8 ETHE1 LRPPRC MT-CO2 MT-ND3 MT-ND5 NDUFA1
2 respiratory chain GO:0070469 9.63 MT-CO2 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFV1
3 mitochondrial membrane GO:0031966 9.62 MT-ND3 MT-ND6 NDUFA1 TMEM126B
4 mitochondrial respiratory chain complex I GO:0005747 9.56 MT-ND3 MT-ND5 NDUFA1 NDUFV1
5 mitochondrial inner membrane GO:0005743 9.4 MT-ATP6 MT-CO2 MT-ND3 MT-ND5 MT-ND6 NDUFA1

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 ETHE1 MT-CO2 MT-ND3 MT-ND5 MT-ND6 NDUFA1
2 ATP biosynthetic process GO:0006754 9.4 MT-ATP6 SURF1
3 response to hyperoxia GO:0055093 9.37 MT-ATP6 POLG
4 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.35 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFV1
5 respiratory chain complex IV assembly GO:0008535 9.32 SCO2 SURF1
6 ATP synthesis coupled electron transport GO:0042773 9.26 MT-CO2 MT-ND5
7 mitochondrial respiratory chain complex I assembly GO:0032981 9.1 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFV1 TMEM126B

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 ETHE1 MT-CO2 MT-ND3 MT-ND5 MT-ND6 NDUFV1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.02 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFV1

Sources for Mitochondrial Metabolism Disease

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....