MCID: MTC004
MIFTS: 43

Mitochondrial Encephalomyopathy

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

Aliases & Classifications for Mitochondrial Encephalomyopathy

MalaCards integrated aliases for Mitochondrial Encephalomyopathy:

Name: Mitochondrial Encephalomyopathy 12 29 14
Mitochondrial Encephalomyopathies 42 69

Classifications:



External Ids:

Disease Ontology 12 DOID:890
MeSH 42 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 myoclonic epilepsy associated with ragged-red fibers and fastkd2-related infantile mitochondrial encephalomyopathy. 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 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 87)
id Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy associated with ragged-red fibers 27.1 FASTKD2 LARS2 MT-CO1 MT-CO3 MT-ND1 MT-ND4
2 fastkd2-related infantile mitochondrial encephalomyopathy 11.9
3 encephalomyopathy 11.9
4 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 11.9
5 mitochondrial disorders 11.8
6 combined oxidative phosphorylation deficiency 6 11.2
7 mitochondrial dna depletion syndrome 5 10.9
8 congenital intrauterine infection-like syndrome 10.9
9 cerebral atrophy 10.9
10 parkinson disease 6, early onset 10.9 MT-ND5 MT-ND6
11 nipah virus disease 10.8 MT-CO1 MT-CO3
12 leiner disease 10.8 MT-ND1 MT-ND4 MT-ND6
13 adenylosuccinase deficiency 10.8 MT-CO1 MT-ND4
14 q fever 10.8 MT-CO1 MT-ND5
15 acanthocephaliasis 10.7 MT-CO1 MT-ND1
16 papillary ependymoma 10.7 MT-CO1 MT-CYB
17 distal hereditary motor neuropathy type v 10.7 MT-TK MT-TL1
18 gastric leiomyoma 10.7 MT-CO1 MT-CYB MT-ND4
19 moved to {607459} 10.7 MT-TK MT-TL1
20 extrapulmonary tuberculosis 10.7 MT-CO1 MT-CYB MT-ND1
21 orofacial cleft 15 10.7 MT-CO1 MT-CYB
22 pleomorphic carcinoma 10.7 MT-ND1 MT-ND4 MT-ND5 MT-ND6
23 systolic heart failure 10.7 COQ2 MT-CYB
24 mhs3-related malignant hyperthermia susceptibility 10.7 MT-TK MT-TL1
25 lactic acidosis 10.6
26 bacterial meningitis 10.6 MT-ND4 NDUFA1
27 sparganosis 10.6 MT-CO1 MT-ND5 MT-TL1
28 functional diarrhea 10.6 MT-CYB MT-ND1
29 fetal akinesia deformation sequence 10.6 MT-CO1 MT-CYB
30 reproductive system disease 10.5 MT-CO1 MT-ND1
31 multiple epiphyseal dysplasia with robin phenotype 10.5 MT-ND4 MT-ND5 MT-TK MT-TL1
32 congenital pulmonary veins atresia or stenosis 10.4 MT-TL1 MT-TL2
33 syphilitic encephalitis 10.4 MT-CO1 MT-ND1
34 enchondromatosis dwarfism deafness 10.4 AIFM1 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
35 allergic contact dermatitis of eyelid 10.3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1
36 decubitus ulcer 10.3 AIFM1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
37 mitochondrial complex iv deficiency 10.3 FASTKD2 MT-CO1 MT-CO3 MT-TL1
38 mitochondrial dna depletion syndrome, mgme1-related 10.3 MT-TL1 MT-TL2
39 cutaneous mastocytosis 10.2 LARS2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
40 mental retardation with spastic paraplegia 10.2 MT-CYB MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1
41 familial episodic pain syndrome 10.2 MT-CO1 MT-CYB
42 cerebritis 10.2
43 mitochondrial complex i deficiency 10.2 COQ2 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1
44 cardiomyopathy 10.1
45 dyscalculia 10.1 MT-TK MT-TL2
46 kearns-sayre syndrome 10.0
47 histoplasmosis retinitis 10.0 MT-CO1 MT-ND4 MT-TW
48 epilepsy 10.0
49 myoclonus 9.9
50 retinoblastoma 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)
id 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
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
8
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
9
rituximab Approved Phase 2 174722-31-7 10201696
10 Thiotepa Approved Phase 2 52-24-4 5453
11 Tocopherol Approved, Nutraceutical Phase 2
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
13 Antioxidants Phase 2,Early Phase 1
14 Micronutrients Phase 2
15 Protective Agents Phase 2,Early Phase 1
16 Trace Elements Phase 2
17 Ubiquinone Phase 2
18 Alkylating Agents Phase 2
19 Antilymphocyte Serum Phase 2
20 Antimetabolites Phase 2
21 Antimetabolites, Antineoplastic Phase 2
22 Immunosuppressive Agents Phase 2
23 N-monoacetylcystine Phase 2
24 Thioctic Acid Phase 2
25 Tocopherols Phase 2
26 Tocotrienols Phase 2
27 Vitamins Phase 2
28 arginine Nutraceutical Phase 2,Early Phase 1
29 Alpha-lipoic Acid Nutraceutical Phase 2
30 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
31
Nitric Oxide Approved Early Phase 1 10102-43-9 145068
32 Anti-Asthmatic Agents Early Phase 1
33 Autonomic Agents Early Phase 1
34 Bronchodilator Agents Early Phase 1
35 Endothelium-Dependent Relaxing Factors Early Phase 1
36 Neurotransmitter Agents Early Phase 1
37 Peripheral Nervous System Agents Early Phase 1
38 Respiratory System Agents Early Phase 1
39 Vasodilator Agents Early Phase 1
40 pyruvate Nutraceutical

Interventional clinical trials:

(show all 17)

id 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 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
4 Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
5 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2 L-Arginine
6 The KHENERGY Study Recruiting NCT02909400 Phase 2 KH176;placebo
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 MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study Recruiting NCT02427178 Phase 1
10 Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers Not yet recruiting NCT03056209 Phase 1 KL1333 25 mg;KL1333 50 mg;Placebo
11 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
12 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
13 Nitric Oxide Production in MELAS Syndrome Completed NCT01339494 Early Phase 1
14 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
15 Natural History Study - Mitochondrial Disease Recruiting NCT01532791
16 Mitochondrial and Microbiota Relationship Recruiting NCT03213067
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:

id Genetic test Affiliating Genes
1 Mitochondrial Encephalomyopathy 29

Anatomical Context for Mitochondrial Encephalomyopathy

MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

39
Brain, Skeletal Muscle, Heart, Cortex, Pituitary, Skin, Endothelial

Publications for Mitochondrial Encephalomyopathy

Articles related to Mitochondrial Encephalomyopathy:

(show top 50) (show all 269)
id Title Authors Year
1
Recurrent Alternate-Sided Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report. ( 28228835 )
2017
2
Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology. ( 28116243 )
2017
3
Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). ( 28242802 )
2017
4
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
5
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
6
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 28179631 )
2017
7
Importance of Distinguishing Between Mitochondrial Encephalomyopathy With Elderly Onset of Stroke-Like Episodes and Cerebral Infarction. ( 28811861 )
2017
8
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
9
Mitochondrial dysfunction and cerebral metabolic abnormalities in patients with mitochondrial encephalomyopathy subtypes: Evidence from proton MR spectroscopy and muscle biopsy. ( 28695670 )
2017
10
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. ( 27359089 )
2016
11
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. ( 27099744 )
2016
12
The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy. ( 27868454 )
2016
13
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke) - a Diagnosis Not to be Missed. ( 28124854 )
2016
14
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). ( 27671241 )
2016
15
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. ( 26797286 )
2016
16
Case report: 5A year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS). ( 27896131 )
2016
17
Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke. ( 26953663 )
2016
18
Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence. ( 26935953 )
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
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. ( 26954033 )
2016
21
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. ( 26185144 )
2015
22
Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients. ( 25637648 )
2015
23
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. ( 25934856 )
2015
24
Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. ( 26421988 )
2015
25
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. ( 25736212 )
2015
26
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. ( 26561570 )
2015
27
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. ( 26018198 )
2015
28
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. ( 25993630 )
2015
29
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. ( 26094573 )
2015
30
Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes. ( 26261593 )
2015
31
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
32
Mitochondrial encephalomyopathy: towards diagnosis. A case report. ( 24636775 )
2014
33
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome. ( 24655600 )
2014
34
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. ( 25038129 )
2014
35
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. ( 24827421 )
2014
36
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 24986829 )
2014
37
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult. ( 24828681 )
2014
38
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. ( 24956508 )
2014
39
Evaluation of a mitochondrial disease criteria scoring system on mitochondrial encephalomyopathy in Chinese patients. ( 23002909 )
2013
40
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. ( 23993194 )
2013
41
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy. ( 22781096 )
2013
42
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. ( 23836383 )
2013
43
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
44
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. ( 23493219 )
2013
45
Expanding spectrum of abnormal movements in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). ( 23079769 )
2012
46
Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. ( 21656321 )
2011
47
A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome. ( 22611618 )
2011
48
Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. ( 21076841 )
2011
49
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. ( 21427669 )
2011
50
Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA. ( 21863273 )
2011

Variations for Mitochondrial Encephalomyopathy

ClinVar genetic disease variations for Mitochondrial Encephalomyopathy:

6
id 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-TW m.5556G> A single nucleotide variant Pathogenic rs387906736 GRCh37 Chromosome MT, 5556: 5556
6 MT-TR m.10450A> G single nucleotide variant Pathogenic rs387906731 GRCh37 Chromosome MT, 10450: 10450
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
id 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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial membrane GO:0031966 9.62 MT-ND1 MT-ND4 MT-ND6 NDUFA1
2 mitochondrial respiratory chain complex I GO:0005747 9.56 MT-ND1 MT-ND4 MT-ND5 NDUFA1
3 respiratory chain GO:0070469 9.5 MT-CO1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
4 integral component of mitochondrial inner membrane GO:0031305 9.43 COQ2 MT-CYB
5 respiratory chain complex IV GO:0045277 9.37 MT-CO1 MT-CO3
6 mitochondrial inner membrane GO:0005743 9.36 AIFM1 COQ2 COQ4 MT-CO1 MT-CO3 MT-CYB
7 mitochondrial respiratory chain complex III GO:0005750 9.1 MT-CYB
8 mitochondrion GO:0005739 10 AIFM1 COQ2 COQ4 FASTKD2 FBXL4 LARS2

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

id 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:

id 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 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
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
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