MCID: MTC004
MIFTS: 42

Mitochondrial Encephalomyopathy

Categories: Muscle diseases

Aliases & Classifications for Mitochondrial Encephalomyopathy

MalaCards integrated aliases for Mitochondrial Encephalomyopathy:

Name: Mitochondrial Encephalomyopathy 12 28 14
Mitochondrial Encephalomyopathies 41 69

Classifications:



External Ids:

Disease Ontology 12 DOID:890
MeSH 41 D017237
SNOMED-CT 64 447292006
UMLS 69 C0162666

Summaries for Mitochondrial Encephalomyopathy

MalaCards based summary : Mitochondrial Encephalomyopathy, also known as mitochondrial encephalomyopathies, is related to encephalomyopathy and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. An important gene associated with Mitochondrial Encephalomyopathy is MT-CYB (Mitochondrially Encoded Cytochrome B), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. The drugs Vaccines and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and heart.

Wikipedia : 72 A Mitochondrial encephalomyopathy is a form of encephalomyopathy that is associated with a mitochondrial... more...

Related Diseases for Mitochondrial Encephalomyopathy

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

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 encephalomyopathy 33.3 AIFM1 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 31.4 FASTKD2 LARS2 MT-CO1 MT-CO3 MT-ND1 MT-ND4
3 lactic acidosis 31.2 LARS2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
4 mitochondrial complex iv deficiency 30.6 FASTKD2 MT-CO1 MT-CO3 MT-TL1
5 mitochondrial myopathy 30.4 MT-CO3 MT-CYB MT-ND4 MT-ND5 MT-TL1 MT-TL2
6 kearns-sayre syndrome 30.3 MT-CYB MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1
7 myoclonic epilepsy associated with ragged-red fibers 30.1 MT-ND4 MT-ND5 MT-TK MT-TL1
8 mitochondrial disorders 29.9 COQ4 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
9 mitochondrial metabolism disease 28.7 COQ2 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TK
10 fastkd2-related infantile mitochondrial encephalomyopathy 12.0
11 combined oxidative phosphorylation deficiency 6 11.6
12 mitochondrial dna depletion syndrome 5 11.1
13 congenital intrauterine infection-like syndrome 11.0
14 cerebral atrophy 11.0
15 parkinson disease 6, autosomal recessive early-onset 10.6 MT-ND5 MT-ND6
16 leber optic atrophy and dystonia 10.5 MT-ND1 MT-ND4 MT-ND6
17 genetic recurrent myoglobinuria 10.5 MT-CO1 MT-CO3
18 deafness, nonsyndromic sensorineural, mitochondrial 10.5 MT-CO1 MT-ND1
19 deafness, aminoglycoside-induced 10.5 MT-CO1 MT-ND4
20 cortical blindness 10.5 MT-ND4 MT-ND6
21 myiasis 10.5 MT-CO1 MT-ND5
22 lice infestation 10.5 MT-CO1 MT-CYB
23 coenurosis 10.5 MT-CO1 MT-ND1
24 diabetes and deafness, maternally inherited 10.4 MT-TK MT-TL1
25 sparganosis 10.4 MT-CO1 MT-CYB MT-ND4
26 amelogenesis imperfecta, type iv 10.4 MT-CO1 MT-CYB
27 babesiosis 10.4 COQ2 MT-CYB
28 phlebotomus fever 10.4 MT-CYB MT-ND1
29 taeniasis 10.4 MT-CO1 MT-CYB MT-ND1
30 cranial nerve disease 10.4 MT-ND1 MT-ND4 MT-ND5 MT-ND6
31 diphyllobothriasis 10.4 MT-CO1 MT-ND5 MT-TL1
32 myasthenic syndrome, congenital, 10 10.3 MT-CO1 MT-CYB
33 cystic echinococcosis 10.3 MT-CO1 MT-ND1
34 maternally-inherited progressive external ophthalmoplegia 10.2 MT-TL1 MT-TL2
35 cysticercosis 10.2 MT-CO1 MT-ND1
36 cerebritis 10.2
37 leber optic atrophy 10.2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
38 optic nerve disease 10.2 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1
39 neuropathy 10.2 AIFM1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
40 epilepsy 10.1
41 mitochondrial complex i deficiency 10.0 COQ2 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1
42 exposure keratitis 10.0 MT-ND4 NDUFA1
43 diabetes mellitus 10.0
44 myoclonus 10.0
45 cercarial dermatitis 10.0 MT-CO1 MT-ND4 MT-TW
46 myoclonus and ataxia 9.9
47 retinoblastoma 9.9
48 aging 9.9
49 coenzyme q10 deficiency disease 9.9
50 sleep apnea 9.9

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 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
3
Idebenone Approved, Investigational Phase 2 58186-27-9
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
rituximab Approved Phase 2 174722-31-7 10201696
8
alemtuzumab Approved, Investigational Phase 2 216503-57-0
9 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
10
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
11 Tocopherol Approved, Investigational, Nutraceutical Phase 2
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
13 Ubiquinone Phase 2
14 Micronutrients Phase 2
15 Trace Elements Phase 2
16 Protective Agents Phase 2,Early Phase 1
17 Antioxidants Phase 2,Early Phase 1
18 Alkylating Agents Phase 2
19 N-monoacetylcystine Phase 2
20 Thioctic Acid Phase 2
21 Tocopherols Phase 2
22 Tocotrienols Phase 2
23 Vitamins Phase 2
24 Antilymphocyte Serum Phase 2
25 Immunosuppressive Agents Phase 2
26 Antimetabolites Phase 2
27 Antimetabolites, Antineoplastic Phase 2
28 arginine Nutraceutical Phase 2,Early Phase 1
29 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
30 Alpha-lipoic Acid Nutraceutical Phase 2
31
Nitric Oxide Approved Early Phase 1 10102-43-9 145068
32 Respiratory System Agents Early Phase 1
33 Neurotransmitter Agents Early Phase 1
34 Vasodilator Agents Early Phase 1
35 Peripheral Nervous System Agents Early Phase 1
36 Anti-Asthmatic Agents Early Phase 1
37 Endothelium-Dependent Relaxing Factors Early Phase 1
38 Autonomic Agents Early Phase 1
39 Bronchodilator Agents Early Phase 1
40 pyruvate Nutraceutical

Interventional clinical trials:

(show all 16)

# 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 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)
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 Recruiting 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 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 28

Anatomical Context for Mitochondrial Encephalomyopathy

MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

38
Brain, Skeletal Muscle, Heart, Cortex, Pituitary, Skin, Endothelial

Publications for Mitochondrial Encephalomyopathy

Articles related to Mitochondrial Encephalomyopathy:

(show top 50) (show all 276)
# Title Authors Year
1
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
2
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
3
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. ( 29327420 )
2018
4
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. ( 29217198 )
2018
5
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
6
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 28179631 )
2017
7
Retinal detachment and microangiopathy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome. ( 29217043 )
2017
8
Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome. ( 29026367 )
2017
9
Importance of Distinguishing Between Mitochondrial Encephalomyopathy With Elderly Onset of Stroke-Like Episodes and Cerebral Infarction. ( 28811861 )
2017
10
Anesthetic Management in Mitochondrial Encephalomyopathy: A Case Report. ( 29200367 )
2017
11
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
12
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
13
Mitochondrial dysfunction and cerebral metabolic abnormalities in patients with mitochondrial encephalomyopathy subtypes: Evidence from proton MR spectroscopy and muscle biopsy. ( 28695670 )
2017
14
Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). ( 28242802 )
2017
15
Recurrent Alternate-Sided Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report. ( 28228835 )
2017
16
Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology. ( 28116243 )
2017
17
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke) - a Diagnosis Not to be Missed. ( 28124854 )
2016
18
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. ( 26954033 )
2016
19
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
20
Case report: 5A year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS). ( 27896131 )
2016
21
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. ( 26797286 )
2016
22
Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke. ( 26953663 )
2016
23
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. ( 27099744 )
2016
24
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. ( 27359089 )
2016
25
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). ( 27671241 )
2016
26
Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence. ( 26935953 )
2016
27
The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy. ( 27868454 )
2016
28
Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients. ( 25637648 )
2015
29
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. ( 26561570 )
2015
30
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. ( 26018198 )
2015
31
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. ( 25993630 )
2015
32
Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes. ( 26261593 )
2015
33
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. ( 25934856 )
2015
34
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. ( 26185144 )
2015
35
Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. ( 26421988 )
2015
36
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. ( 26094573 )
2015
37
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. ( 25736212 )
2015
38
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
39
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult. ( 24828681 )
2014
40
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome. ( 24655600 )
2014
41
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 24986829 )
2014
42
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. ( 24827421 )
2014
43
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. ( 25038129 )
2014
44
Mitochondrial encephalomyopathy: towards diagnosis. A case report. ( 24636775 )
2014
45
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. ( 24956508 )
2014
46
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. ( 23493219 )
2013
47
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy. ( 22781096 )
2013
48
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. ( 23993194 )
2013
49
A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome. ( 22638077 )
2013
50
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. ( 23836383 )
2013

Variations for Mitochondrial Encephalomyopathy

ClinVar genetic disease variations for Mitochondrial Encephalomyopathy:

6
# 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-TL1 m.3252A> G single nucleotide variant Pathogenic rs199474661 GRCh37 Chromosome MT, 3252: 3252
3 MT-TR m.10438A> G single nucleotide variant Pathogenic rs121434456 GRCh37 Chromosome MT, 10438: 10438
4 MT-CYB m.15242G> A single nucleotide variant Pathogenic rs207459999 GRCh37 Chromosome MT, 15242: 15242
5 MT-TR m.10450A> G single nucleotide variant Pathogenic rs387906731 GRCh37 Chromosome MT, 10450: 10450
6 MT-TW m.5556G> A single nucleotide variant Pathogenic rs387906736 GRCh37 Chromosome MT, 5556: 5556
7 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397514610 GRCh37 Chromosome 6, 5369234: 5369234
8 MFF NM_020194.5(MFF): c.190C> T (p.Gln64Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514615 GRCh37 Chromosome 2, 228195493: 228195493
9 FBXL4 NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 GRCh37 Chromosome 6, 99323549: 99323549

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 mitochondrion GO:0005739 9.83 AIFM1 COQ2 COQ4 FASTKD2 FBXL4 LARS2
2 respiratory chain GO:0070469 9.7 MT-CO1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
3 mitochondrial membrane GO:0031966 9.62 MT-ND1 MT-ND4 MT-ND6 NDUFA1
4 mitochondrial respiratory chain complex I GO:0005747 9.56 MT-ND1 MT-ND4 MT-ND5 NDUFA1
5 integral component of mitochondrial inner membrane GO:0031305 9.43 COQ2 MT-CYB
6 mitochondrial respiratory chain complex III GO:0005750 9.4 MT-CO1 MT-CYB
7 respiratory chain complex IV GO:0045277 9.37 MT-CO1 MT-CO3
8 mitochondrial inner membrane GO:0005743 9.36 AIFM1 COQ2 COQ4 MT-CO1 MT-CO3 MT-CYB

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.76 AIFM1 MT-CO1 MT-CYB MT-ND1 MT-ND4 MT-ND5
2 hydrogen ion transmembrane transport GO:1902600 9.5 MT-CO1 MT-CO3 MT-CYB
3 cellular respiration GO:0045333 9.48 FASTKD2 MT-ND1
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.46 MT-CO1 MT-CO3
5 respiratory electron transport chain GO:0022904 9.43 MT-CO3 MT-CYB
6 response to copper ion GO:0046688 9.4 MT-CO1 MT-CYB
7 ubiquinone biosynthetic process GO:0006744 9.37 COQ2 COQ4
8 mitochondrial respiratory chain complex I assembly GO:0032981 9.35 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1
9 ATP synthesis coupled electron transport GO:0042773 9.26 MT-ND4 MT-ND5
10 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.02 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.5 AIFM1 MT-CO1 MT-CYB MT-ND1 MT-ND4 MT-ND5
2 cytochrome-c oxidase activity GO:0004129 9.16 MT-CO1 MT-CO3
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.02 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1

Sources for Mitochondrial Encephalomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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