MCID: MTC004
MIFTS: 43

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 43 71
Encephalomyopathy, Mitochondrial 39

Classifications:



External Ids:

Disease Ontology 12 DOID:890
MeSH 43 D017237
UMLS 71 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 mitochondrial disorders. 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 Idebenone and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and skeletal muscle.

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 249)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 34.3 NDUFA1 MT-TW MT-TL2 MT-TL1 MT-TK MT-ND6
2 mitochondrial disorders 33.8 NDUFA1 MT-TL2 MT-TL1 MT-TK MT-ND6 MT-ND5
3 myoclonic epilepsy associated with ragged-red fibers 33.2 SOD2 MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND4
4 lactic acidosis 32.3 MT-TW MT-TL2 MT-TL1 MT-TK MT-ND6 MT-ND5
5 kearns-sayre syndrome 32.0 MT-TL2 MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND4
6 mitochondrial myopathy 31.9 SLC25A42 NDUFA1 MT-TW MT-TL2 MT-TL1 MT-TK
7 chronic progressive external ophthalmoplegia 31.8 SOD2 MT-TL2 MT-TL1 MT-TK MT-ND6 MT-ND4
8 early myoclonic encephalopathy 31.8 MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND4 COX5A
9 neuropathy 31.6 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB AIFM1
10 mitochondrial metabolism disease 31.5 SOD2 NDUFA1 MT-TW MT-TL2 MT-TL1 MT-TK
11 mitochondrial complex iv deficiency 31.4 MT-TL1 MT-CO2 COX5A
12 3-methylglutaconic aciduria, type iii 31.4 MT-TL1 MT-TK MT-ND6 MT-ND4 MT-ND1 MT-CYB
13 peripheral nervous system disease 31.3 MT-TK MT-ND6 MT-ND4 MT-ND1
14 leigh syndrome 31.3 NDUFA1 MT-TW MT-TL1 MT-TK MT-ND6 MT-ND5
15 cortical blindness 31.3 MT-ND6 MT-ND5 MT-ND4 MT-ND1
16 retinitis pigmentosa 31.2 SOD2 MT-TW MT-TL1 MT-TK MT-ND6 MT-ND4
17 diabetes and deafness, maternally inherited 31.2 MT-TL1 MT-TK
18 hereditary optic neuropathy 31.1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB
19 mitochondrial complex i deficiency, nuclear type 1 31.1 SOD2 NDUFA1 MT-ND6 MT-ND4 MT-ND1 FARS2
20 optic nerve disease 30.9 NDUFA1 MT-TK MT-ND6 MT-ND5 MT-ND4 MT-ND1
21 optic neuritis 30.8 SOD2 MT-ND6 MT-ND4 MT-ND1
22 pearson marrow-pancreas syndrome 30.8 MT-TL1 MT-TK MT-ND6 MT-ND4 MT-CYB MT-CO2
23 muscular disease 30.6 MT-TL1 MT-TK MT-ND6 MT-ND4 MT-CYB
24 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 12.8
25 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency 12.4
26 fastkd2-related infantile mitochondrial encephalomyopathy 12.3
27 mitochondrial dna depletion syndrome 5 12.2
28 combined oxidative phosphorylation deficiency 6 12.1
29 cerebral atrophy 11.7
30 mitochondrial dna depletion syndrome 14 11.6
31 mitochondrial dna depletion syndrome 1 11.4
32 myoclonic epilepsy of unverricht and lundborg 11.3
33 congenital intrauterine infection-like syndrome 11.3
34 myopathy 10.9
35 encephalopathy 10.7
36 myoclonus 10.7
37 leber optic atrophy and dystonia 10.7 MT-ND6 MT-ND4 MT-ND1
38 sparganosis 10.7 MT-ND4 MT-ND1 MT-CYB
39 ataxia and polyneuropathy, adult-onset 10.7
40 mitochondrial myopathy, infantile, transient 10.7 MT-ND5 MT-ND1 MT-CYB
41 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 10.7 SLC25A42 MT-TW MT-TL2
42 myiasis 10.6 MT-ND1 MT-CYB MT-CO2
43 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 10.6
44 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 10.6
45 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.6
46 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 10.6
47 mitochondrial dna-related progressive external ophthalmoplegia 10.6 MT-TL2 MT-TL1
48 cardiomyopathy, infantile histiocytoid 10.6 NDUFA1 MT-TK MT-CYB
49 thelaziasis 10.6 MT-TL2 MT-ND6
50 cranial nerve disease 10.6 MT-TK MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB

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 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Idebenone Approved, Investigational Phase 2 58186-27-9
2
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
3 Antioxidants Phase 2
4 Protective Agents Phase 2
5 Ubiquinone Phase 2
6
Nitric Oxide Approved Phase 1 10102-43-9 145068
7 Neurotransmitter Agents Phase 1
8 Respiratory System Agents Phase 1
9 Anti-Asthmatic Agents Phase 1
10 Autonomic Agents Phase 1
11 Free Radical Scavengers Phase 1
12 Vasodilator Agents Phase 1
13 Bronchodilator Agents Phase 1
14
Nicotinamide Approved, Investigational 98-92-0 936
15
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
16
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
17 Trace Elements
18 Micronutrients
19 Nutrients
20 Vitamins
21 Hypolipidemic Agents
22 Vitamin B Complex
23 Vitamin B3
24 Vitamin B9
25 Folate
26 Lipid Regulating Agents
27 Nicotinic Acids
28 Antimetabolites

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
2 An Open-Label, Dose-Escalating Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
3 A Phase IIa Double-Blind, Randomized, Placebo-Controlled, Dose-Finding Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
4 A Phase IIb Double-blind, Randomised, Placebo-controlled, Multi-centre, Confirmative Three-way Cross-over Study on Cognitive Function With Two Doses of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation. Recruiting NCT04165239 Phase 2 KH176;KH176;Placebo
5 A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
6 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
7 Phase-1, Dose Finding and Safety Study on L- Citrulline Treatment of Nitric Oxide Deficiency in MELAS Not yet recruiting NCT03952234 Phase 1 L-Citrulline
8 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067
9 The International Database for Leigh Syndrome Recruiting NCT03137355
10 Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations Recruiting NCT01532791
11 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Recruiting NCT03432871

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:

40
Heart, Brain, Skeletal Muscle, Skin, Kidney, Eye, Pituitary

Publications for Mitochondrial Encephalomyopathy

Articles related to Mitochondrial Encephalomyopathy:

(show top 50) (show all 1153)
# Title Authors PMID Year
1
Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. 61 6
15286228 2004
2
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. 61 6
11047755 2000
3
A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. 61 6
8923013 1996
4
A new point mutation associated with mitochondrial encephalomyopathy. 61 6
8111377 1993
5
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. 6
19809478 2010
6
Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. 54 61
19617458 2009
7
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. 54 61
18771761 2008
8
Mutations in cytochrome c oxidase subunit VIa cause neurodegeneration and motor dysfunction in Drosophila. 54 61
17435251 2007
9
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 54 61
17262856 2007
10
Myostatin expression in muscular dystrophies and mitochondrial encephalomyopathies. 54 61
16996410 2006
11
Myostatin expression in muscular dystrophies and mitochondrial encephalomyopathies. 54 61
16638502 2006
12
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 54 61
15767514 2005
13
Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206. 54 61
15265003 2004
14
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases. 54 61
11907800 2002
15
[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]. 54 61
10637838 1999
16
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. 54 61
10205264 1999
17
Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2. 54 61
9187476 1997
18
Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. 54 61
8918062 1996
19
Superoxide dismutases of muscle in mitochondrial encephalomyopathies. 54 61
7565923 1995
20
Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNA(Ile) 4269 mutation): histochemical, immunohistochemical, and ultrastructural study. 54 61
7595643 1995
21
Decreased synthesis and inefficient mitochondrial import of hsp60 in a patient with a mitochondrial encephalomyopathy. 54 61
7986829 1994
22
Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy. 54 61
8064325 1994
23
Quantitative evaluation of electron transport system proteins in mitochondrial encephalomyopathy. 54 61
8386896 1993
24
[Expression of a defect in the respiratory chain in cultured human cells]. 54 61
1667713 1991
25
An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. 54 61
1792871 1991
26
Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency. 61
31944455 2020
27
Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families. 61
31722256 2020
28
Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution. 61
31806591 2020
29
Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing. 61
31687263 2019
30
Neurodegenerative diseases associated with mitochondrial DNA mutations. 61
31755379 2019
31
Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C. 61
31178082 2019
32
Mitochondrial 3243A > G mutation confers pro-atherogenic and pro-inflammatory properties in MELAS iPS derived endothelial cells. 61
31641105 2019
33
Haemorrhagic Transformation of a MELAS Stroke-Like Lesion. 61
31648660 2019
34
The MELAS mutation m.3243A>G alters the expression of mitochondrial tRNA fragments. 61
31195049 2019
35
Exploring mTOR inhibition as treatment for mitochondrial disease. 61
31386302 2019
36
Adult onset MELAS Syndrome Presenting as A Mimic of Herpes Simplex Encephalitis. 61
31867706 2019
37
A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features. 61
30888501 2019
38
Reversible Dilation of Cerebral Macrovascular Changes in MELAS Episodes. 61
29464268 2019
39
Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus. 61
30972844 2019
40
Mortality in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes does not depend on levetirazetam alone. 61
31205119 2019
41
Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient: Case report. 61
31083203 2019
42
Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report. 61
31068171 2019
43
Optical coherence tomography findings in chronic progressive external ophthalmoplegia. 61
31140991 2019
44
[Ultrastructural and clinical findings of mitochondrial encephalomyopathy:report of 27 cases]. 61
30955266 2019
45
Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism. 61
30962477 2019
46
Ketogenic and anaplerotic dietary modifications ameliorate seizure activity in Drosophila models of mitochondrial encephalomyopathy and glycolytic enzymopathy. 61
30683556 2019
47
The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother. 61
30709774 2019
48
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy. 61
30706699 2019
49
Progression of Peripheral Vestibular Dysfunctions in Patients With a Mitochondrial A3243G Mutation. 61
30742597 2019
50
White matter connection's damage, not cortical activation, leading to language dysfunction of mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes. 61
30707182 2019

Variations for Mitochondrial Encephalomyopathy

ClinVar genetic disease variations for Mitochondrial Encephalomyopathy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-TR m.10438A>GSNV Pathogenic 9623 rs121434456 MT:10438-10438 MT:10438-10438
2 MT-CYB m.15242G>ASNV Pathogenic 9680 rs207459999 MT:15242-15242 MT:15242-15242
3 MT-TW m.5556G>ASNV Pathogenic 30007 rs387906736 MT:5556-5556 MT:5556-5556
4 MT-TR m.10450A>GSNV Pathogenic 30000 rs387906731 MT:10450-10450 MT:10450-10450
5 MT-TL2 m.12315G>ASNV Pathogenic 9586 rs121434462 MT:12315-12315 MT:12315-12315
6 FARS2 NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)SNV Pathogenic/Likely pathogenic 39824 rs397514610 6:5369234-5369234 6:5369001-5369001
7 MFF NM_001277062.2(MFF):c.112C>T (p.Gln38Ter)SNV Pathogenic/Likely pathogenic 39831 rs397514615 2:228195493-228195493 2:227330777-227330777
8 FBXL4 NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)SNV Pathogenic/Likely pathogenic 66093 rs398123061 6:99323549-99323549 6:98875673-98875673
9 MT-TL1 m.3252A>GSNV Likely pathogenic 9594 rs199474661 MT:3252-3252 MT:3252-3252

Copy number variations for Mitochondrial Encephalomyopathy from CNVD:

7
# CNVD ID Chromosome 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 10 SOD2 SLC25A42 NDUFA1 MT-ND5 MT-ND4 MT-ND1
2 mitochondrial membrane GO:0031966 9.62 NDUFA1 MT-ND6 MT-ND4 MT-ND1
3 mitochondrial respiratory chain complex I GO:0005747 9.56 NDUFA1 MT-ND5 MT-ND4 MT-ND1
4 mitochondrial intermembrane space GO:0005758 9.54 FBXL4 CPOX AIFM1
5 respiratory chain GO:0070469 9.5 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB
6 mitochondrial inner membrane GO:0005743 9.36 SLC25A42 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1

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

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.61 MT-ND5 MT-ND4 MT-CYB
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.55 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
3 aerobic respiration GO:0009060 9.48 MT-ND4 MT-ND1
4 response to organonitrogen compound GO:0010243 9.46 MT-ND5 MT-CYB
5 ATP synthesis coupled electron transport GO:0042773 9.43 MT-ND5 MT-ND4 MT-CO2
6 release of cytochrome c from mitochondria GO:0001836 9.4 SOD2 MFF
7 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.37 MT-CO2 COX5A
8 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.35 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
9 electron transport coupled proton transport GO:0015990 9.32 MT-ND4 MT-CYB
10 oxidation-reduction process GO:0055114 9.32 SOD2 NDUFA1 MT-ND6 MT-ND5 MT-ND4 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 9.55 SOD2 MT-CYB MT-CO2 CPOX AIFM1
2 cytochrome-c oxidase activity GO:0004129 9.26 MT-CO2 COX5A
3 NADH dehydrogenase activity GO:0003954 9.13 MT-ND5 MT-ND4 MT-ND1
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.02 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1

Sources for Mitochondrial Encephalomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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