MCID: MTC004
MIFTS: 42

Mitochondrial Encephalomyopathy malady

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

Aliases & Classifications for Mitochondrial Encephalomyopathy

Aliases & Descriptions for Mitochondrial Encephalomyopathy:

Name: Mitochondrial Encephalomyopathy 12 14
Mitochondrial Encephalomyopathies 29 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 AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1), 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 : 71 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 72)
id Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy associated with ragged-red fibers 28.3 FBXL4 LARS2 MT-CO3 MT-ND1 MT-ND4 MT-ND5
2 fastkd2-related infantile mitochondrial encephalomyopathy 11.9
3 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 11.9
4 mitochondrial disorders 11.9
5 encephalomyopathy 11.5
6 combined oxidative phosphorylation deficiency 6 11.2
7 mitochondrial dna depletion syndrome 5 10.9
8 lactic acidosis 10.6
9 parkinson disease 6, early onset 10.2 MT-ND5 MT-ND6
10 penis sarcoma 10.1 MT-CO3 MT-ND1
11 lentigo maligna melanoma 10.1 MT-ND1 MT-ND4 MT-ND6
12 dsg2-related dilated cardiomyopathy 10.1 MT-TK MT-TL1
13 abdominal tuberculosis 10.1 MT-CYB MT-ND1
14 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 10.1 MT-TK MT-TL1
15 microlissencephaly iii 10.1 MT-TK MT-TL1
16 arrhythmogenic right ventricular cardiomyopathy 10.1 MT-CYB MT-ND4
17 cerebritis 10.1
18 cardiomyopathy 10.1
19 syphilitic encephalitis 10.1 MT-ND5 MT-TL1
20 kearns-sayre syndrome 10.0
21 growth hormone deficiency, isolated partial 10.0 MT-ND4 MT-TK
22 allergic contact dermatitis of eyelid 10.0 MT-ND1 MT-ND4 MT-ND5 MT-ND6
23 autoimmune interstitial lung, joint, and kidney disease 10.0 MT-ND1 MT-ND4 MT-ND5 MT-ND6
24 epilepsy 10.0
25 mucinous intrahepatic cholangiocarcinoma 10.0 MT-ND4 MT-ND5 MT-ND6 MT-TK
26 megacolon 10.0 MT-CYB MT-ND1
27 myoclonus 9.9
28 msh6-related lynch syndrome 9.9 FBXL4 SUCLA2
29 carotid body cancer 9.9 AIFM1 MT-ND1 MT-ND4 MT-ND5 MT-ND6
30 multiple epiphyseal dysplasia with robin phenotype 9.9 MT-ND4 MT-ND5 MT-TK MT-TL1
31 familial cold-induced inflammatory syndrome 1 9.9 FASTKD2 MT-CO3 MT-TL1
32 nerve fibre bundle defect 9.9 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TK
33 sleep apnea 9.9
34 hypoparathyroidism 9.9
35 choroiditis 9.9
36 pancreatitis 9.9
37 muscular dystrophy 9.9
38 aminoacidopathies 9.9
39 enteropathica 9.8 AIFM1 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
40 fumarase deficiency 9.7
41 retinoblastoma 9.7
42 cataract 9.7
43 cerebral hemorrhage 9.7
44 focal segmental glomerulosclerosis 9.7
45 pearson syndrome 9.7
46 atrioventricular block 9.7
47 sensorineural hearing loss 9.7
48 leukodystrophy 9.7
49 fanconi syndrome 9.7
50 open-angle glaucoma 9.7

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 41)
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
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
12 Antioxidants Phase 2,Early Phase 1
13 Micronutrients Phase 2
14 Protective Agents Phase 2,Early Phase 1
15 Trace Elements Phase 2
16 Ubiquinone Phase 2
17 Alkylating Agents Phase 2
18 Antilymphocyte Serum Phase 2
19 Antimetabolites Phase 2
20 Antimetabolites, Antineoplastic Phase 2
21 Antineoplastic Agents, Alkylating 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 Tocopherol Nutraceutical Phase 2
31 Tocotrienol Nutraceutical Phase 2
32
Nitric Oxide Approved Early Phase 1 10102-43-9 145068
33
Pyruvate Approved, Nutraceutical
34 Anti-Asthmatic Agents Early Phase 1
35 Autonomic Agents Early Phase 1
36 Bronchodilator Agents Early Phase 1
37 Endothelium-Dependent Relaxing Factors Early Phase 1
38 Neurotransmitter Agents Early Phase 1
39 Peripheral Nervous System Agents Early Phase 1
40 Respiratory System Agents Early Phase 1
41 Vasodilator Agents Early Phase 1

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
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
3 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2
4 Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes Completed NCT00887562 Phase 2
5 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2
6 The KHENERGY Study Recruiting NCT02909400 Phase 2
7 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
8 A Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1
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
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 The Leigh Syndrome Registry Recruiting NCT03137355
17 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

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, Skin, Pituitary, Endothelial

Publications for Mitochondrial Encephalomyopathy

Articles related to Mitochondrial Encephalomyopathy:

(show top 50) (show all 260)
id Title Authors Year
1
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
2
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). ( 27671241 )
2016
3
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
4
Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence. ( 26935953 )
2016
5
The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy. ( 27868454 )
2016
6
Case report: 5A year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS). ( 27896131 )
2016
7
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. ( 26954033 )
2016
8
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. ( 27359089 )
2016
9
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. ( 26797286 )
2016
10
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. ( 27099744 )
2016
11
Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke. ( 26953663 )
2016
12
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. ( 26561570 )
2015
13
Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes. ( 26261593 )
2015
14
Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. ( 26421988 )
2015
15
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. ( 26185144 )
2015
16
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. ( 25736212 )
2015
17
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. ( 25993630 )
2015
18
Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients. ( 25637648 )
2015
19
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. ( 26018198 )
2015
20
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. ( 25934856 )
2015
21
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. ( 26094573 )
2015
22
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult. ( 24828681 )
2014
23
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. ( 24956508 )
2014
24
Mitochondrial encephalomyopathy: towards diagnosis. A case report. ( 24636775 )
2014
25
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. ( 25038129 )
2014
26
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. ( 24827421 )
2014
27
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
28
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome. ( 24655600 )
2014
29
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 24986829 )
2014
30
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. ( 23836383 )
2013
31
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. ( 23993194 )
2013
32
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
33
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. ( 23493219 )
2013
34
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy. ( 22781096 )
2013
35
Evaluation of a mitochondrial disease criteria scoring system on mitochondrial encephalomyopathy in Chinese patients. ( 23002909 )
2013
36
Expanding spectrum of abnormal movements in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). ( 23079769 )
2012
37
Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. ( 21656321 )
2011
38
A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome. ( 22611618 )
2011
39
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. ( 21427669 )
2011
40
Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA. ( 21863273 )
2011
41
Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. ( 21076841 )
2011
42
A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy. ( 19744136 )
2010
43
Modeling mitochondrial encephalomyopathy in Drosophila. ( 20472065 )
2010
44
Disruption of endothelial tight junctions in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). ( 20799154 )
2010
45
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. ( 20362274 )
2010
46
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex. ( 20433951 )
2010
47
Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes. ( 20194621 )
2010
48
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. ( 19162478 )
2009
49
Identification of novel mutations in five patients with mitochondrial encephalomyopathy. ( 18977334 )
2009
50
Heart diseases in mitochondrial encephalomyopathy, lactic acidosis, and stroke syndrome. ( 19925507 )
2009

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-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
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 inner membrane GO:0005743 9.7 AIFM1 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5
2 mitochondrion GO:0005739 9.65 AIFM1 FASTKD2 FBXL4 LARS2 MT-CO3 MT-CYB
3 mitochondrial membrane GO:0031966 9.5 MT-ND1 MT-ND4 MT-ND6
4 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND1 MT-ND4 MT-ND5
5 respiratory chain GO:0070469 9.02 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6

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 9.63 AIFM1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
2 response to hydrogen peroxide GO:0042542 9.46 MT-ND5 MT-ND6
3 response to nicotine GO:0035094 9.43 MT-ND4 MT-ND6
4 response to organonitrogen compound GO:0010243 9.4 MT-CYB MT-ND5
5 cellular respiration GO:0045333 9.37 FASTKD2 MT-ND1
6 respiratory electron transport chain GO:0022904 9.32 MT-CO3 MT-CYB
7 ATP synthesis coupled electron transport GO:0042773 9.26 MT-ND4 MT-ND5
8 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 MT-ND1 MT-ND4 MT-ND5 MT-ND6
9 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.92 MT-ND1 MT-ND4 MT-ND5 MT-ND6

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 9.43 AIFM1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND1 MT-ND4 MT-ND5 MT-ND6

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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