MCID: MTC004
MIFTS: 42

Mitochondrial Encephalomyopathy

Categories: Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Encephalomyopathy

MalaCards integrated aliases for Mitochondrial Encephalomyopathy:

Name: Mitochondrial Encephalomyopathy 12 29 6 15
Mitochondrial Encephalomyopathies 44 73

Classifications:



External Ids:

Disease Ontology 12 DOID:890
MeSH 44 D017237
UMLS 73 C0162666

Summaries for Mitochondrial Encephalomyopathy

MalaCards based summary : Mitochondrial Encephalomyopathy, also known as mitochondrial encephalomyopathies, is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and lactic acidosis. An important gene associated with Mitochondrial Encephalomyopathy is MT-CYB (Mitochondrially Encoded Cytochrome B), 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 Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and heart.

Wikipedia : 76 A Mitochondrial encephalomyopathy is a form of encephalomyopathy that is associated with a mitochondrial... more...

Related Diseases for Mitochondrial Encephalomyopathy

Diseases in the Mitochondrial Encephalomyopathy family:

Fastkd2-Related Infantile Mitochondrial Encephalomyopathy

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

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.9 FASTKD2 MT-CO1 MT-CO2 MT-ND1 MT-ND3 MT-ND4
2 lactic acidosis 31.6 MT-CO1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
3 mitochondrial myopathy 30.8 COX5A MT-CO1 MT-CO2 MT-CYB MT-ND1 MT-ND4
4 mitochondrial complex iv deficiency 30.7 COX5A FASTKD2 MT-CO1 MT-CO2 MT-ND4 MT-TL1
5 kearns-sayre syndrome 30.3 COX5A MT-CO1 MT-CO2 MT-CYB MT-ND1 MT-ND4
6 3-methylglutaconic aciduria, type iii 30.2 MFF MT-ND4 MT-ND6
7 neuropathy 30.2 AIFM1 MT-ND1 MT-ND4 MT-ND5 MT-ND6
8 myoclonic epilepsy associated with ragged-red fibers 30.0 COX5A CPOX MT-ND4 MT-ND5 MT-TL1
9 mitochondrial metabolism disease 29.2 COX5A MT-CO2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
10 fastkd2-related infantile mitochondrial encephalomyopathy 12.2
11 mitochondrial disorders 11.8
12 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 11.8
13 combined oxidative phosphorylation deficiency 6 11.8
14 mitochondrial dna depletion syndrome 5 11.2
15 congenital intrauterine infection-like syndrome 11.2
16 cerebral atrophy 11.2
17 mitochondrial myopathy, infantile, transient 10.3 MT-CYB MT-ND6
18 parkinson disease, mitochondrial 10.3 MT-CYB MT-ND6
19 myiasis 10.3 MT-CO1 MT-ND5
20 striatonigral degeneration, infantile, mitochondrial 10.3 MT-ND3 MT-ND4
21 striatonigral degeneration, infantile 10.3 MT-ND3 MT-ND4
22 acquired idiopathic sideroblastic anemia 10.3 COX5A MT-CO1
23 parkinson disease 6, autosomal recessive early-onset 10.3 MT-CYB MT-ND5 MT-ND6
24 myopathy, lactic acidosis, and sideroblastic anemia 3 10.3 MT-ND3 MT-ND4
25 myoglobinuria, recurrent 10.3 COX5A MT-CO1
26 myopathy, lactic acidosis, and sideroblastic anemia 10.3 MT-ND3 MT-ND4
27 deafness, aminoglycoside-induced 10.3 MT-CO1 MT-ND4
28 pediculus humanus capitis infestation 10.3 MT-CO1 MT-CYB
29 sideroblastic anemia acquired 10.3 MT-CO1 MT-CO2
30 amelogenesis imperfecta, type iv 10.3 MT-CO1 MT-CYB
31 ataxia and polyneuropathy, adult-onset 10.3 MT-ND3 MT-ND4
32 epilepsy 10.3
33 coenurosis 10.3 MT-CO1 MT-ND1
34 parasitic helminthiasis infectious disease 10.3 MFF MT-CO1 MT-ND1
35 cardiomyopathy, infantile hypertrophic 10.3 MT-CO2 MT-ND3
36 cranial nerve disease 10.3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
37 leber optic atrophy and dystonia 10.3 MT-ND1 MT-ND3 MT-ND4 MT-ND6
38 myasthenic syndrome, congenital, 10 10.2 MT-CO1 MT-CO2 MT-CYB
39 taeniasis 10.2 MT-CO1 MT-ND1
40 sparganosis 10.2 MT-CO1 MT-CYB MT-ND3 MT-ND4
41 parasitic protozoa infectious disease 10.2 MT-CO1 MT-CO2 MT-CYB
42 diabetes mellitus 10.2
43 diphyllobothriasis 10.2 MT-CO1 MT-ND3 MT-ND5 MT-TL1
44 dystonia 10.2 MT-CYB MT-ND1 MT-ND3 MT-ND4 MT-ND6
45 exposure keratitis 10.2 MT-ND4 NDUFA1
46 cystic echinococcosis 10.2 MT-CO1 MT-ND1
47 mitochondrial dna depletion syndrome 1 10.2 MT-CO2 MT-ND3
48 deafness, nonsyndromic sensorineural, mitochondrial 10.2 MT-CO1 MT-CO2 MT-ND1 MT-ND4 MT-ND5
49 acute retrobulbar neuritis 10.2 MT-CYB MT-ND4
50 stroke, ischemic 10.2

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



Diseases related to Mitochondrial Encephalomyopathy

Symptoms & Phenotypes for Mitochondrial Encephalomyopathy

Drugs & Therapeutics for Mitochondrial Encephalomyopathy

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4
2 Vaccines Phase 4
3
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
4
Idebenone Approved, Investigational Phase 2 58186-27-9
5 Micronutrients Phase 2,Not Applicable
6 Antioxidants Phase 2,Early Phase 1
7 Protective Agents Phase 2,Early Phase 1
8 Trace Elements Phase 2,Not Applicable
9 Ubiquinone Phase 2
10 arginine Phase 2,Early Phase 1
11
Nitric Oxide Approved Early Phase 1 10102-43-9 145068
12
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
13
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
14
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
15 Endothelium-Dependent Relaxing Factors Early Phase 1
16 Vasodilator Agents Early Phase 1,Not Applicable
17 Anti-Asthmatic Agents Early Phase 1
18 Neurotransmitter Agents Early Phase 1
19 Autonomic Agents Early Phase 1
20 Free Radical Scavengers Early Phase 1
21 Respiratory System Agents Early Phase 1
22 Peripheral Nervous System Agents Early Phase 1
23 Bronchodilator Agents Early Phase 1
24 pyruvate
25 Vitamin B9 Not Applicable
26 Lipid Regulating Agents Not Applicable
27 Vitamin B3 Not Applicable
28 Antimetabolites Not Applicable
29 Vitamin B Complex Not Applicable
30 Vitamins Not Applicable
31 Folate Not Applicable
32 Nicotinic Acids Not Applicable
33 Hypolipidemic Agents Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
2 Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome Unknown status NCT00068913 Phase 2 Dichloroacetate
3 The KHENERGY Study Completed NCT02909400 Phase 2 KH176;placebo
4 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
5 Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
6 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2 L-Arginine
7 A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
8 A Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
9 Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers 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
10 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
11 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
12 Nitric Oxide Production in MELAS Syndrome Completed NCT01339494 Early Phase 1
13 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
14 Natural History Study - Mitochondrial Disease Recruiting NCT01532791
15 Mitochondrial and Microbiota Relationship Recruiting NCT03213067
16 Nicotinamide Riboside and Mitochondrial Biogenesis Recruiting NCT03432871 Not Applicable
17 The Leigh Syndrome Registry Recruiting NCT03137355

Search NIH Clinical Center for Mitochondrial Encephalomyopathy

Cochrane evidence based reviews: mitochondrial encephalomyopathies

Genetic Tests for Mitochondrial Encephalomyopathy

Genetic tests related to Mitochondrial Encephalomyopathy:

# Genetic test Affiliating Genes
1 Mitochondrial Encephalomyopathy 29

Anatomical Context for Mitochondrial Encephalomyopathy

MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

41
Brain, Skin, Heart, Pituitary, Skeletal Muscle, Cortex, Pancreas

Publications for Mitochondrial Encephalomyopathy

Articles related to Mitochondrial Encephalomyopathy:

(show top 50) (show all 407)
# Title Authors Year
1
The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. ( 30554496 )
2019
2
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. ( 29327420 )
2018
3
Survival analysis of a cohort of Chinese patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) based on clinical features. ( 29406897 )
2018
4
Letter to the Editor: Diagnosing Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Requires Not Only Phenotypic But Also Genotypic Verification. ( 29559858 )
2018
5
Repeated Attacks of Dizziness Caused by a Rare Mitochondrial Encephalomyopathy. ( 29460827 )
2018
6
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. ( 29217198 )
2018
7
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with severe systemic symptoms: Pathology and biochemistry. ( 29480536 )
2018
8
Conventional and Diffusional Magnetic Resonance Imaging Features of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes in Chinese Patients: A Study of 40 Cases. ( 29369945 )
2018
9
Comparison of magnetic resonance spectroscopy (MRS) with arterial spin labeling (ASL) in the differentiation between mitochondrial encephalomyopathy, lactic Acidosis, plus stroke-like episodes (MELAS) and acute ischemic stroke (AIS). ( 29921486 )
2018
10
Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation. ( 30140253 )
2018
11
Transient bilateral optic disc oedema in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). ( 30340746 )
2018
12
Fixation-off sensitivity in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. ( 30500480 )
2018
13
The biochemical characterization of a missense mutation m.8914C>T in ATP6 gene associated with mitochondrial encephalomyopathy. ( 30273650 )
2018
14
Anesthetic Management in Mitochondrial Encephalomyopathy: A Case Report. ( 29200367 )
2017
15
Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). ( 28242802 )
2017
16
Mitochondrial dysfunction and cerebral metabolic abnormalities in patients with mitochondrial encephalomyopathy subtypes: Evidence from proton MR spectroscopy and muscle biopsy. ( 28695670 )
2017
17
Importance of Distinguishing Between Mitochondrial Encephalomyopathy With Elderly Onset of Stroke-Like Episodes and Cerebral Infarction. ( 28811861 )
2017
18
Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology. ( 28116243 )
2017
19
Correction for Li and Guan, "Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA(Leu(UUR)) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes". ( 28847973 )
2017
20
Assessment of Nitric Oxide Production in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome with the Use of a Stable Isotope Tracer Infusion Technique. ( 28515163 )
2017
21
Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome. ( 29026367 )
2017
22
Recurrent Alternate-Sided Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report. ( 28228835 )
2017
23
Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome. ( 27869334 )
2017
24
Retinal detachment and microangiopathy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome. ( 29217043 )
2017
25
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 28179631 )
2017
26
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. ( 26954033 )
2016
27
Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence. ( 26935953 )
2016
28
The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy. ( 27868454 )
2016
29
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke) - a Diagnosis Not to be Missed. ( 28124854 )
2016
30
Case report: 5A year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS). ( 27896131 )
2016
31
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). ( 27671241 )
2016
32
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. ( 27099744 )
2016
33
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. ( 26797286 )
2016
34
Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke. ( 26953663 )
2016
35
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. ( 27359089 )
2016
36
Migratory stroke-like lesions in a case of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and a review of imaging findings. ( 27920873 )
2016
37
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. ( 26018198 )
2016
38
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. ( 26185144 )
2015
39
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. ( 25934856 )
2015
40
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. ( 26094573 )
2015
41
Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes. ( 26261593 )
2015
42
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. ( 26561570 )
2015
43
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. ( 25993630 )
2015
44
Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients. ( 25637648 )
2015
45
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. ( 25736212 )
2015
46
Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. ( 26421988 )
2015
47
High cytochrome c oxidase expression links to severe skeletal energy failure by (31)P-MRS spectroscopy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. ( 24674659 )
2014
48
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult. ( 24828681 )
2014
49
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. ( 25038129 )
2014
50
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome. ( 24655600 )
2014

Variations for Mitochondrial Encephalomyopathy

ClinVar genetic disease variations for Mitochondrial Encephalomyopathy:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TL2 m.12315G> A single nucleotide variant Pathogenic rs121434462 GRCh37 Chromosome MT, 12315: 12315
2 MT-TL2 m.12315G> A single nucleotide variant Pathogenic rs121434462 GRCh38 Chromosome MT, 12315: 12315
3 MT-TL1 m.3252A> G single nucleotide variant Pathogenic rs199474661 GRCh37 Chromosome MT, 3252: 3252
4 MT-TL1 m.3252A> G single nucleotide variant Pathogenic rs199474661 GRCh38 Chromosome MT, 3252: 3252
5 MT-TR m.10438A> G single nucleotide variant Pathogenic rs121434456 GRCh37 Chromosome MT, 10438: 10438
6 MT-TR m.10438A> G single nucleotide variant Pathogenic rs121434456 GRCh38 Chromosome MT, 10438: 10438
7 MT-CYB m.15242G> A single nucleotide variant Pathogenic rs207459999 GRCh37 Chromosome MT, 15242: 15242
8 MT-CYB m.15242G> A single nucleotide variant Pathogenic rs207459999 GRCh38 Chromosome MT, 15242: 15242
9 MT-TR m.10450A> G single nucleotide variant Pathogenic rs387906731 GRCh38 Chromosome MT, 10450: 10450
10 MT-TR m.10450A> G single nucleotide variant Pathogenic rs387906731 GRCh37 Chromosome MT, 10450: 10450
11 MT-TW m.5556G> A single nucleotide variant Pathogenic rs387906736 GRCh38 Chromosome MT, 5556: 5556
12 MT-TW m.5556G> A single nucleotide variant Pathogenic rs387906736 GRCh37 Chromosome MT, 5556: 5556
13 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Likely pathogenic rs397514610 GRCh37 Chromosome 6, 5369234: 5369234
14 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Likely pathogenic rs397514610 GRCh38 Chromosome 6, 5369001: 5369001
15 MFF NM_020194.5(MFF): c.190C> T (p.Gln64Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514615 GRCh37 Chromosome 2, 228195493: 228195493
16 MFF NM_020194.5(MFF): c.190C> T (p.Gln64Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514615 GRCh38 Chromosome 2, 227330777: 227330777
17 FBXL4 NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 GRCh37 Chromosome 6, 99323549: 99323549
18 FBXL4 NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 GRCh38 Chromosome 6, 98875673: 98875673

Copy number variations for Mitochondrial Encephalomyopathy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 267521 mtDNA 1 16569 Copy number Mitochondrial encephalomyopathy

Expression for Mitochondrial Encephalomyopathy

Search GEO for disease gene expression data for Mitochondrial Encephalomyopathy.

Pathways for Mitochondrial Encephalomyopathy

GO Terms for Mitochondrial Encephalomyopathy

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.9 AIFM1 COX5A MT-CO1 MT-CO2 MT-CYB MT-ND1
2 mitochondrion GO:0005739 9.83 AIFM1 COX5A CPOX FASTKD2 FBXL4 MFF
3 mitochondrial membrane GO:0031966 9.72 MT-ND1 MT-ND3 MT-ND4 MT-ND6 NDUFA1
4 mitochondrial respiratory chain complex I GO:0005747 9.65 MT-ND1 MT-ND3 MT-ND4 MT-ND5 NDUFA1
5 mitochondrial intermembrane space GO:0005758 9.61 AIFM1 CPOX FBXL4
6 mitochondrial respiratory chain complex IV GO:0005751 9.54 COX5A MT-CO1 MT-CO2
7 mitochondrial respiratory chain complex III GO:0005750 9.46 MT-CO1 MT-CYB
8 respiratory chain complex IV GO:0045277 9.4 MT-CO1 MT-CO2
9 respiratory chain GO:0070469 9.28 MT-CO1 MT-CO2 MT-CYB MT-ND1 MT-ND3 MT-ND4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.67 MT-CYB MT-ND4 MT-ND5
2 proton transmembrane transport GO:1902600 9.65 COX5A MT-CO1 MT-CO2
3 electron transport chain GO:0022900 9.61 COX5A MT-CO1 MT-CO2
4 aerobic respiration GO:0009060 9.58 MT-CO1 MT-ND1 MT-ND4
5 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.55 MT-ND1 MT-ND3 MT-ND4 MT-ND5 NDUFA1
6 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.54 COX5A MT-CO1 MT-CO2
7 ATP synthesis coupled electron transport GO:0042773 9.5 MT-CO2 MT-ND4 MT-ND5
8 response to copper ion GO:0046688 9.46 MT-CO1 MT-CYB
9 electron transport coupled proton transport GO:0015990 9.43 MT-CO1 MT-CYB MT-ND4
10 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6 NDUFA1
11 oxidation-reduction process GO:0055114 9.36 AIFM1 CPOX MT-CO1 MT-CO2 MT-CYB MT-ND1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 AIFM1 CPOX MT-CO1 MT-CO2 MT-CYB MT-ND1
2 cytochrome-c oxidase activity GO:0004129 9.43 COX5A MT-CO1 MT-CO2
3 NADH dehydrogenase activity GO:0003954 9.33 MT-ND1 MT-ND4 MT-ND5
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.1 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6 NDUFA1

Sources for Mitochondrial Encephalomyopathy

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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