MCID: MTC005
MIFTS: 44

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 44 73

Classifications:



External Ids:

Disease Ontology 12 DOID:700
MeSH 44 D028361
SNOMED-CT 68 240096000
UMLS 73 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 kearns-sayre syndrome and mitochondrial encephalomyopathy. An important gene associated with Mitochondrial Metabolism Disease is SURF1 (SURF1, Cytochrome C Oxidase Assembly Factor), 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 Pioglitazone and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and heart, and related phenotype is Decreased shRNA abundance.

Related Diseases for Mitochondrial Metabolism Disease

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 kearns-sayre syndrome 31.4 MT-ATP6 MT-ND5 MT-ND6 MT-TK
2 mitochondrial encephalomyopathy 30.5 MT-ND3 MT-ND5 MT-ND6 MT-TK NDUFA1
3 mitochondrial disorders 28.8 MT-ATP6 MT-ND3 MT-ND5 MT-ND6 MT-TK NDUFA1
4 mitochondrial complex i deficiency 27.0 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFAF6 NDUFS1
5 leigh syndrome 22.8 COX15 LRPPRC MT-ATP6 MT-ND3 MT-ND5 MT-ND6
6 hsd10 mitochondrial disease 12.0
7 rrm2b-related mitochondrial disease 11.9
8 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.8
9 combined oxidative phosphorylation deficiency 3 11.4
10 chronic progressive external ophthalmoplegia 11.2
11 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.0
12 hypotonia-cystinuria syndrome 10.9
13 mitochondrial complex ii deficiency 10.8
14 mohr-tranebjaerg syndrome 10.8
15 pearson marrow-pancreas syndrome 10.8
16 encephalopathy, ethylmalonic 10.8
17 mitochondrial complex iii deficiency, nuclear type 2 10.8
18 fatal infantile encephalocardiomyopathy 10.8
19 coenzyme q10 deficiency disease 10.8
20 mitochondrial complex iii deficiency 10.8
21 mitochondrial complex v deficiency 10.8
22 striatonigral degeneration, infantile, mitochondrial 10.6 MT-ATP6 MT-ND3
23 cardiomyopathy, infantile hypertrophic 10.6 MT-ATP6 MT-ND3
24 myopathy, lactic acidosis, and sideroblastic anemia 3 10.5 MT-ATP6 MT-ND3
25 leber optic atrophy and dystonia 10.5 MT-ND3 MT-ND6
26 parkinson disease 6, autosomal recessive early-onset 10.5 MT-ND5 MT-ND6
27 striatonigral degeneration, infantile 10.4 MT-ATP6 MT-ND3
28 deafness, nonsyndromic sensorineural, mitochondrial 10.4 MT-ATP6 MT-ND5
29 ataxia and polyneuropathy, adult-onset 10.4 MT-ATP6 MT-ND3
30 cortical blindness 10.3 MT-ND6 TIMM8A
31 optic nerve disease 10.3 MT-ND5 MT-ND6 NDUFA1
32 lactic acidosis 10.3 MT-ATP6 MT-ND5 MT-ND6
33 myopathy, lactic acidosis, and sideroblastic anemia 10.1 MT-ATP6 MT-ND3 MT-TK
34 diphyllobothriasis 10.1 MT-ND3 MT-ND5
35 leber optic atrophy 10.0 MT-ATP6 MT-ND3 MT-ND5 MT-ND6
36 familial colorectal cancer 10.0 MT-ATP6 MT-ND3 MT-ND5 MT-ND6
37 mitochondrial myopathy 9.9 MT-ATP6 MT-ND5 MT-ND6 NDUFV1
38 encephalomyopathy 9.9 MT-ND5 MT-ND6
39 fatal infantile cytochrome c oxidase deficiency 9.8 COX15 SCO2
40 mitochondrial dna depletion syndrome 1 9.7 MT-ATP6 MT-ND3 MT-TK SCO2
41 cardioencephalomyopathy 9.6 COX15 SCO2 SURF1
42 mitochondrial dna-associated leigh syndrome and narp 9.5 MT-ATP6 MT-ND3 MT-ND5 MT-ND6 MT-TK
43 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.5 MT-ATP6 MT-ND3 MT-ND5 MT-ND6 MT-TK
44 myopathy 9.4 MT-ATP6 MT-ND3 MT-ND5 MT-ND6 NDUFV1
45 mitochondrial complex iv deficiency 8.9 COX15 LRPPRC MT-ND3 SCO2 SURF1
46 leber hereditary optic neuropathy 7.5 MT-ATP6 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFAF6
47 leigh syndrome with leukodystrophy 7.4 COX15 NDUFAF6 NDUFS1 NDUFS4 NDUFS8 NDUFV1

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



Diseases related to Mitochondrial Metabolism Disease

Symptoms & Phenotypes for Mitochondrial Metabolism Disease

GenomeRNAi Phenotypes related to Mitochondrial Metabolism Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 NDUFA1 NDUFS1 NDUFS8 NDUFV1

Drugs & Therapeutics for Mitochondrial Metabolism Disease

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

(show top 50) (show all 200)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
2
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
3
Abacavir Approved, Investigational Phase 4,Phase 2,Phase 3 136470-78-5 65140 441300
4
Zidovudine Approved Phase 4 30516-87-1 35370
5
Emtricitabine Approved, Investigational Phase 4,Phase 1,Phase 2 143491-57-0 60877
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Benzocaine Approved, Investigational Phase 4,Phase 2 1994-09-7, 94-09-7 2337
8
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
9
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
10
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
11
Creatine Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2 57-00-1 586
12 tannic acid Approved, Nutraceutical Phase 4,Phase 2
13 insulin Phase 4,Phase 3,Phase 2,Not Applicable
14 Hormones Phase 4,Phase 2,Not Applicable
15 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
16 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Not Applicable
17 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 1,Not Applicable
19 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20
Tenofovir Phase 4,Phase 1,Phase 2 147127-20-6 464205
21 Reverse Transcriptase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
22 Neurotransmitter Agents Phase 4,Phase 2,Not Applicable
23 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
24 Dideoxynucleosides Phase 4
25 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4
26 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
27 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
28 Anti-HIV Agents Phase 4,Phase 2,Phase 3,Phase 1
29 Lamivudine, zidovudine drug combination Phase 4
30 Anti-Retroviral Agents Phase 4,Phase 2,Phase 3,Phase 1
31 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1
32 Adrenergic Agents Phase 4,Not Applicable
33 Central Nervous System Stimulants Phase 4
34 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2
35 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 1,Phase 2
36 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 1,Phase 2
37 Dopamine Agents Phase 4
38 Dopamine Uptake Inhibitors Phase 4
39 Autonomic Agents Phase 4
40
protease inhibitors Phase 4
41 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
42 Cytochrome P-450 CYP3A Inducers Phase 4
43 HIV Protease Inhibitors Phase 4
44 Atazanavir Sulfate Phase 4
45 Omega 3 Fatty Acid Nutraceutical Phase 4,Phase 2
46 arginine Nutraceutical Phase 4
47
Zinc Approved, Investigational Phase 2, Phase 3,Not Applicable 7440-66-6 23994
48
Allopurinol Approved Phase 3 315-30-0 2094
49
Menthol Approved Phase 3 2216-51-5 16666
50
Simvastatin Approved Phase 3,Phase 2,Not Applicable 79902-63-9 54454

Interventional clinical trials:

(show top 50) (show all 123)
# Name Status NCT ID Phase Drugs
1 Pilot Study of Lovaza (Omega 3 Fatty Acids) to Improve Cardiac Antioxidant/Anti-inflammatory Profile Before Cardiac Surgery Unknown status NCT01046604 Phase 4 Lovaza group
2 Thyroid Study Type 2 Diabetes Mellitus (T2DM) Unknown status NCT01379170 Phase 4 Euthyrox (levothyroxine)
3 Myocardial Dysfunction in Type 2 Diabetes Mellitus (T2DM) Completed NCT01588470 Phase 4 pioglitazone
4 Protective Effects of L-arginine During Reperfusion by Femoropopliteal Bypass for Lower Limb Ischemic Syndrome in Humans Completed NCT02117206 Phase 4 L-arginine (L-arginine Veyron);Nacl
5 Switch From Combivir or Trizivir to Truvada - Mitochondrial Effects Completed NCT00960622 Phase 4 Truvada;Combivir;Trizivir
6 A Randomized Double-Blind Controlled Trial of Creatine in Female Methamphetamine Users Recruiting NCT02192931 Phase 4 Creatine monohydrate
7 Switching From Efavirenz to Atazanavir/ Ritonavir in HIV-infected Subjects With Good Virologic Suppression Terminated NCT01194856 Phase 4 Atazanavir/ritonavir;Efavirenz
8 Oxygen Therapy in Schizophrenia Unknown status NCT00525863 Phase 3 oxygen
9 Effect of Micronutrients and Exercise During Pregnancy on Factors Related With Non-Transmissible Chronic Diseases Unknown status NCT00872365 Phase 2, Phase 3
10 Role of Allopurinol on Oxidative Stress and Mitochondrial Alterations in Skeletal Muscle of Diabetic Patients Unknown status NCT02533648 Phase 3 2 capsules of allopurinol 150 mg daily for 3 month;2 capsules of lactose daily for 3 month
11 Molecular Hydrogen for Cognitive Function and Performance in Elderly Completed NCT02830854 Phase 3
12 Effect of Vitamin D Supplementation on Exercise Adaptations in Patients on Statin Therapy Completed NCT02030041 Phase 3 Vitamin D;Simvastatin;Placebo
13 D4T or Abacavir Plus Vitamin Enhancement in HIV-Infected Patients (DAVE) Completed NCT00143702 Phase 2, Phase 3 d4T;Abacavir;Riboflavin and Thiamine (Supplementation)
14 The Role of Trimetazidine on Right Ventricle Function in Pulmonary Arterial Hypertension in National Cardiovascular Center Harapan Kita Hospital Recruiting NCT03273387 Phase 2, Phase 3 Trimetazidine;Placebo oral capsule
15 Effects of Acipimox on Insulin Action, Vascular Function, and Muscle Function in Type 1 Diabetes Active, not recruiting NCT01816165 Phase 3 Acipimox;Placebo
16 Efficacy and Safety of Butylphthalide for Acute Ischemic Stroke Patients Receiving Intravenous Thrombolysis or Endovascular Treatment Not yet recruiting NCT03539445 Phase 3 Butylphthalide;Butylphthalide Placebo
17 Creatine Safety, Tolerability, & Efficacy in Huntington's Disease (CREST-E) Terminated NCT00712426 Phase 3 Creatine Monohydrate;Placebo
18 Mitochondrial Oxidation and Insulin Resistance in Burn Patients Treated With Fenofibrate Withdrawn NCT00732485 Phase 2, Phase 3 fenofibrate;placebo
19 Efficacy of Ubiquinone and Combined Antioxidant Therapy in Non-proliferative Diabetic Retinopathy Completed NCT02062034 Phase 2 Ubiquinone;Combined antioxidant therapy;Placebo
20 A Phase 2 Study to Evaluate the Impact of MTP-131 (Bendavia™) on Skeletal Muscle Function in Elderly Completed NCT02245620 Phase 2 MTP-131 (Bendavia™);Placebo
21 Effect of Xenon and Therapeutic Hypothermia, on the Brain and on Neurological Outcome Following Brain Ischemia in Cardiac Arrest Patients Completed NCT00879892 Phase 2 xenon
22 Neuroprotection by Cannabinoids in Huntington's Disease Completed NCT01502046 Phase 2 delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD);Placebo
23 High Dose Intravenous Ascorbic Acid in Severe Sepsis Completed NCT02734147 Phase 2 Ascorbic Acid
24 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
25 Clinical Trial of Creatine in Amyotrophic Lateral Sclerosis Completed NCT00005766 Phase 2 Creatinine
26 Statins for Oxidative Stress and Mitochondrial Function in Diabetic Polyneuropathy Completed NCT02129231 Phase 2 calcined magnesia;Ezetimibe/simvastatin;Rosuvastatin
27 Clinical Trial of High Dose CoQ10 in ALS Completed NCT00243932 Phase 2 coenzyme Q10;Placebo
28 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin Recruiting NCT02696044 Phase 2 triheptanoin
29 Relative Mitochondrial Toxicity of Tenofovir Alafenamide (TAF) vs. Tenofovir Disoproxil Fumarate (TDF) Recruiting NCT03251144 Phase 1, Phase 2 Switch to E/C/FTC/TAF daily
30 Nicotinamide Riboside in Systolic Heart Failure Recruiting NCT03423342 Phase 1, Phase 2 Placebo
31 RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe Recruiting NCT02255435 Phase 2 Omaveloxolone Capsules, 2.5 mg;Omaveloxolone Capsules, 5 mg;Omaveloxolone Capsules, 10 mg;Placebo;Omaveloxolone Capsules, 20 mg;Omaveloxolone Capsules, 40 mg;Omaveloxolone Capsules, 80 mg;Omaveloxolone Capsules, 160 mg;Omaveloxolone Capsules, 300 mg;Omaveloxolone Capsules, 150 mg
32 Mitochondria and Chronic Kidney Disease Active, not recruiting NCT03177798 Phase 2 Icatibant;Placebo
33 Sulforaphane Treatment of Children With Autism Spectrum Disorder (ASD) Active, not recruiting NCT02561481 Phase 1, Phase 2 Sulforaphane;Placebo
34 MS-SMART: Multiple Sclerosis-Secondary Progressive Multi-Arm Randomisation Trial Active, not recruiting NCT01910259 Phase 2 Amiloride;Riluzole;Fluoxetine;Placebo
35 A Pilot Trial of Triheptanoin for People With Amyotrophic Lateral Sclerosis (PALS) Not yet recruiting NCT03506425 Phase 1, Phase 2 Triheptanoin
36 Angiotensin Receptors and Age Related Mitochondrial Decline in HIV Patients Terminated NCT02606279 Phase 2 valsartan
37 Mitochondrial Dysfunction in the Pathophysiology and Treatment of Bipolar Disorder Withdrawn NCT00327756 Phase 2 Coenzyme Q10
38 Chronic Fatigue Syndrome: A Presumptive Mitochondrial Disorder Withdrawn NCT01471652 Phase 2 Nutraceutical supplements;Placebo
39 A Single and Multiple Dose Study of AMAZ-02 to Evaluate Safety and Pharmacokinetics in Elderly Subjects Completed NCT02655393 Phase 1
40 Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)? Recruiting NCT02348125 Phase 1 Mitochondrial Cocktail
41 Safety and Efficacy of Anti-Oxidants and Anti-inflammatory Agents in Glaucoma and Diabetic Retinopathy Active, not recruiting NCT02984813 Phase 1 GlaucoHealth;GlaucoSelect;Placebo
42 Intensive Exercise to Improve Mitochondrial Dysfunction in Pediatric Obesity Unknown status NCT00962806 Not Applicable
43 HO-1 and Muscle Mitochondrial Dysfunction in Sepsis Unknown status NCT02359240
44 Relation Between Subclinical Hypothyroidism and Outcome of Pregnancy Unknown status NCT01335802
45 Beneficial Effects of Coenzyme Q10 Treatment on the Mitochondrial Dysfunction and Oxidative Stress Associated to Atherothrombosis Developement in Antiphospholipidid Syndrome Patients Unknown status NCT02218476 Not Applicable CoQ10;Placebo
46 Study of Cellular Impairments Involved in Diabetic Complications Unknown status NCT00985101
47 ThyrOp: A Study of Individual Subclinical Hypothyroidism After Hemithyroidectomy for Benign Nontoxic Goiter Unknown status NCT01358136
48 Effect of Pioglitazone on Mitochondrial Function in Muscle and Adipose Tissue in Humans Unknown status NCT01165190
49 Mitochondrial Function in Pediatric Obesity Unknown status NCT00577174
50 Regulation of Endocrine, Metabolic, Immune and Bioenergetic Responses in Sepsis Unknown status NCT00187824

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:

41
Liver, Skeletal Muscle, Heart, Brain, Testes, Thyroid, Kidney

Publications for Mitochondrial Metabolism Disease

Articles related to Mitochondrial Metabolism Disease:

(show top 50) (show all 154)
# Title Authors Year
1
Recent perspectives of pediatric mitochondrial diseases. ( 29375674 )
2018
2
Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study. ( 29139113 )
2018
3
Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease. ( 29911009 )
2018
4
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28805065 )
2017
5
Focal segmental glomerulosclerosis associated with mitochondrial disease. ( 29043143 )
2017
6
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. ( 28185376 )
2017
7
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. ( 28299359 )
2017
8
A novel MTTT mutation m.15933G?>?A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease. ( 28187756 )
2017
9
Anesthetic Management of Two Pediatric Patients With Concurrent Diagnoses of Mitochondrial Disease and Malignant Hyperthermia Susceptibility: A Case Report. ( 28604462 )
2017
10
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28914548 )
2017
11
Mitochondrial disease and endocrine dysfunction. ( 27716753 )
2017
12
Mitochondrial diseases. ( 28987165 )
2017
13
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. ( 27102849 )
2016
14
A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1. ( 27680221 )
2016
15
A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases. ( 27164684 )
2016
16
Mitochondrial Disease as a Cause of Neonatal Hemophagocytic Lymphohistiocytosis. ( 27752381 )
2016
17
Mutations in mitochondrial DNA regulate mitochondrial diseases and metastasis but do not regulate aging. ( 27078865 )
2016
18
Intestinal pseudo-obstruction in mitochondrial diseases. ( 27804144 )
2016
19
Incidence of Primary Mitochondrial Disease in Children Presenting With Acute Liver Failure Under 2 Years of Age. ( 27482763 )
2016
20
Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases. ( 27489983 )
2016
21
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction. ( 26867126 )
2016
22
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. ( 27111573 )
2016
23
Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations. ( 27666594 )
2016
24
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. ( 27693233 )
2016
25
Mitochondrial Diseases: Shortcuts to Therapies and Therapeutic Shortcuts. ( 27716487 )
2016
26
Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways. ( 27787713 )
2016
27
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. ( 26735972 )
2016
28
Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis. ( 26669719 )
2016
29
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease. ( 26077851 )
2015
30
Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease. ( 25666558 )
2015
31
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. ( 24781757 )
2015
32
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. ( 26510951 )
2015
33
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease. ( 25687154 )
2015
34
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. ( 27858754 )
2015
35
Growth hormone deficiency in a patient with mitochondrial disease. ( 25781523 )
2015
36
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. ( 26018198 )
2015
37
An overview of neurological and neuromuscular signs in mitochondrial diseases. ( 24792434 )
2014
38
Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial. ( 24702846 )
2014
39
Neurometabolic disease: Treating mitochondrial diseases with mTOR inhibitors--a potential treatment for Leigh syndrome? ( 24296657 )
2014
40
Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. ( 24549041 )
2014
41
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease. ( 24669931 )
2014
42
Adult-onset Mendelian PEO Associated with Mitochondrial Disease. ( 27858775 )
2014
43
Hypertrichosis in presymptomatic mitochondrial disease. ( 23408181 )
2013
44
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. ( 23313956 )
2013
45
POLG mutations in Australian patients with mitochondrial disease. ( 22647225 )
2013
46
Evaluation of a mitochondrial disease criteria scoring system on mitochondrial encephalomyopathy in Chinese patients. ( 23002909 )
2013
47
Autonomic dysfunction in epilepsy and mitochondrial diseases. ( 23465772 )
2013
48
Mitochondrial disease--an important cause of end-stage renal failure. ( 23233040 )
2013
49
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder. ( 23340503 )
2013
50
Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease. ( 24142477 )
2013

Variations for Mitochondrial Metabolism Disease

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 respiratory chain complex I GO:0005747 9.8 MT-ND3 MT-ND5 NDUFA1 NDUFS1 NDUFS4 NDUFS8
2 mitochondrial inner membrane GO:0005743 9.77 COX15 MT-ATP6 MT-ND3 MT-ND5 MT-ND6 NDUFA1
3 mitochondrial matrix GO:0005759 9.73 ETHE1 NDUFS1 NDUFS8 SCO2
4 mitochondrial membrane GO:0031966 9.62 COX15 MT-ND3 MT-ND6 NDUFA1
5 mitochondrial respiratory chain GO:0005746 9.4 COX15 SURF1
6 respiratory chain GO:0070469 9.23 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFS1 NDUFS4
7 membrane GO:0016020 10.21 COX15 LRPPRC MT-ATP6 MT-ND3 MT-ND5 MT-ND6
8 mitochondrion GO:0005739 10.03 COX15 ETHE1 LRPPRC MT-ND3 MT-ND5 MT-ND6

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 9.93 COX15 ETHE1 MT-ND3 MT-ND5 MT-ND6 NDUFA1
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.61 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFAF6 NDUFS1
3 cellular respiration GO:0045333 9.5 COX15 NDUFS1 NDUFS4
4 reactive oxygen species metabolic process GO:0072593 9.46 NDUFS1 NDUFS4
5 ATP biosynthetic process GO:0006754 9.43 MT-ATP6 SURF1
6 respiratory chain complex IV assembly GO:0008535 9.43 COX15 SCO2 SURF1
7 mitochondrial respiratory chain complex IV assembly GO:0033617 9.4 SCO2 SURF1
8 ATP synthesis coupled electron transport GO:0042773 9.37 MT-ND5 NDUFS1
9 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.23 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFS1 NDUFS4

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.7 ETHE1 MT-ND3 MT-ND5 MT-ND6 NDUFS1 NDUFS8
2 iron-sulfur cluster binding GO:0051536 9.54 NDUFS1 NDUFS8 NDUFV1
3 4 iron, 4 sulfur cluster binding GO:0051539 9.5 NDUFS1 NDUFS8 NDUFV1
4 NADH dehydrogenase activity GO:0003954 9.43 MT-ND5 NDUFS1 NDUFS8
5 cytochrome-c oxidase activity GO:0004129 9.4 COX15 SURF1
6 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.26 NDUFS1 NDUFS4 NDUFS8 NDUFV1
7 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.23 MT-ND3 MT-ND5 MT-ND6 NDUFA1 NDUFS1 NDUFS4

Sources for Mitochondrial Metabolism Disease

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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