Mitochondrial Encephalomyopathy

Categories: Muscle diseases

Aliases & Classifications for Mitochondrial Encephalomyopathy

MalaCards integrated aliases for Mitochondrial Encephalomyopathy:

Name: Mitochondrial Encephalomyopathy 12 29 6 15
Mitochondrial Encephalomyopathies 44 70
Encephalomyopathy, Mitochondrial 39


External Ids:

Disease Ontology 12 DOID:890
MeSH 44 D017237
SNOMED-CT 67 447292006
UMLS 70 C0162666

Summaries for Mitochondrial Encephalomyopathy

MalaCards based summary : Mitochondrial Encephalomyopathy, also known as mitochondrial encephalomyopathies, is related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 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 Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Cysteamine and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and cortex.

Wikipedia : 73 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 284)
# Related Disease Score Top Affiliating Genes
1 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 33.1 MT-TW MT-TR MT-TL2 MT-TL1 MT-ND6 MT-ND5
2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.7 NDUFA1 MT-TW MT-TR MT-TL2 MT-TL1 MT-ND6
3 myoclonic epilepsy associated with ragged-red fibers 32.3 MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB
4 mitochondrial dna depletion syndrome 5 32.2 SUCLA2 MT-CO1
5 mitochondrial disorders 32.2 SLC25A42 NDUFA1 MT-TW MT-TL2 MT-TL1 MT-ND6
6 lactic acidosis 31.8 SLC25A42 MT-TW MT-TL2 MT-TL1 MT-ND6 MT-ND5
7 myopathy 31.6 SLC25A42 NDUFA1 MT-TW MT-TR MT-TL2 MT-TL1
8 kearns-sayre syndrome 31.6 SUCLA2 MT-TL2 MT-TL1 MT-ND6 MT-ND5 MT-ND4
9 early myoclonic encephalopathy 31.4 MT-TL1 MT-ND6 MT-ND5 MT-ND4
10 mitochondrial metabolism disease 31.4 SUCLA2 NDUFA1 MT-ND6 MT-ND4 MT-ND1 FBXL4
11 chronic progressive external ophthalmoplegia 31.3 SUCLA2 MT-TL2 MT-TL1 MT-ND6 MT-ND5 MT-ND4
12 mitochondrial myopathy 31.3 SUCLA2 SLC25A42 MT-TW MT-TR MT-TL2 MT-TL1
13 sensorineural hearing loss 31.2 MT-TL1 MT-ND6 MT-ND5 MT-CYB MT-CO1 AIFM1
14 hypertrophic cardiomyopathy 31.2 MT-TL1 MT-ND5 MT-ND1 MT-CYB MT-CO2 MT-CO1
15 cortical blindness 31.0 MT-ND6 MT-ND5 MT-ND4 MT-ND1
16 mitochondrial dna-associated leigh syndrome and narp 31.0 MT-TW MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
17 neuropathy 31.0 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB
18 3-methylglutaconic aciduria, type iii 31.0 SUCLA2 MT-ND6 MT-ND4 MT-ND1 MT-CYB MT-CO1
19 peripheral nervous system disease 30.9 MT-ND6 MT-ND4 MT-ND1 MFF
20 mitochondrial complex iv deficiency, nuclear type 1 30.9 MT-TL1 MT-CO2 MT-CO1 FASTKD2
21 retinitis pigmentosa 30.9 MT-TW MT-TL1 MT-ND6 MT-ND4 MT-ND1 MT-CYB
22 leigh syndrome 30.8 SUCLA2 NDUFA1 MT-TW MT-TL1 MT-ND6 MT-ND5
23 dystonia 30.7 SUCLA2 MT-ND6 MT-ND4 MT-ND1 MT-CYB
24 deafness, aminoglycoside-induced 30.6 MT-ND6 MT-ND4 MT-ND1 MT-CO1
25 neuropathy, ataxia, and retinitis pigmentosa 30.6 MT-ND6 MT-ND4
26 mitochondrial complex i deficiency, nuclear type 1 30.6 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-CO1 FARS2
27 leber optic atrophy and dystonia 30.6 MT-ND6 MT-ND4 MT-ND1
28 hereditary optic neuropathy 30.6 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB
29 pearson marrow-pancreas syndrome 30.5 MT-TL1 MT-ND6 MT-ND4 MT-CYB MT-CO2
30 mitochondrial dna depletion syndrome 4a 30.5 SUCLA2 MT-ND5 MT-ND1 FARS2
31 mitochondrial dna-associated leigh syndrome 30.5 MT-TW MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
32 optic nerve disease 30.4 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB
33 leber hereditary optic neuropathy, modifier of 30.3 NDUFA1 MT-TL2 MT-TL1 MT-ND6 MT-ND5 MT-ND4
34 combined oxidative phosphorylation deficiency 6 11.5
35 mitochondrial dna depletion syndrome 9 11.3
36 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency 11.3
37 combined oxidative phosphorylation deficiency 44 11.1
38 myoclonic epilepsy of unverricht and lundborg 11.1
39 combined oxidative phosphorylation deficiency 48 11.1
40 mitochondrial dna depletion syndrome 14 11.1
41 combined oxidative phosphorylation deficiency 50 11.0
42 congenital intrauterine infection-like syndrome 11.0
43 myoclonus 10.6
44 stroke, ischemic 10.5
45 dicrocoeliasis 10.5 MT-ND5 MT-ND1 MT-CYB
46 mitochondrial dna-related progressive external ophthalmoplegia 10.5 MT-TL2 MT-TL1
47 toxascariasis 10.5 MT-ND1 MT-CO2
48 severe congenital neutropenia 1 10.5 MT-ND5 MT-ND1
49 coenurosis 10.5 MT-ND4 MT-ND1 MT-CO1
50 pediculus humanus corporis infestation 10.5 MT-ND4 MT-CYB MT-CO1

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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
Nicotinamide Approved, Investigational 98-92-0 936
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
5 Vitamin B9
6 Vasodilator Agents
7 Nutrients
8 Trace Elements
9 Micronutrients
10 Vitamins
11 Antimetabolites
12 Vitamin B Complex
13 Folate
14 Lipid Regulating Agents
15 Vitamin B3
16 Nicotinic Acids
17 Hypolipidemic Agents

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 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
2 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
3 A Phase 2a Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Study in Individuals With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Recruiting NCT04475549 Phase 2 IW-6463 Tablets
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 Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders Not yet recruiting NCT04802707 Phase 2
6 A Phase IIb Open-label, Multi-centre, Extension Study to Explore the Long-term Safety and Efficacy of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation Who Have Completed the KHENERGYZE Study KH176-202. Not yet recruiting NCT04604548 Phase 2 Oral administration of 100 mg KH176 twice daily
7 The Rare Disease Clinical Research Network Natural History Study of MNGIE Unknown status NCT01694953
8 Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations Recruiting NCT01532791
9 The International Database for Leigh Syndrome Recruiting NCT03137355
10 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:

Skeletal Muscle, Eye, Cortex, Pituitary, Endothelial, Whole Blood, Cerebellum

Publications for Mitochondrial Encephalomyopathy

Articles related to Mitochondrial Encephalomyopathy:

(show top 50) (show all 1196)
# Title Authors PMID Year
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. 6 61
15286228 2004
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. 6 61
11047755 2000
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
A new point mutation associated with mitochondrial encephalomyopathy. 6 61
8111377 1993
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. 6
19809478 2010
Management considerations for stroke-like episodes in MELAS with concurrent COVID-19 infection. 61
33796896 2021
Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation. 61
33779865 2021
Stem cell-derived mitochondria transplantation: A promising therapy for mitochondrial encephalomyopathy. 61
33538116 2021
Altered Dynamic Functional Connectivity in Patients With Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) at Acute and Chronic Stages: Shared and Specific Brain Connectivity Abnormalities. 61
32869426 2021
L-Arginine Reduces Nitro-Oxidative Stress in Cultured Cells with Mitochondrial Deficiency. 61
33562042 2021
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity. 61
33463549 2021
Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy. 61
33579567 2021
Neurofilament light is a novel biomarker for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. 61
33479417 2021
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant. 61
32439810 2021
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation. 61
33438095 2021
Mitochondrial Myopathy, Encephalopathy, Lactic acidosis and Stroke-Like Episodes Syndrome Presenting With Anton-Babinski Syndrome and Concurrent Occipital Lobe Seizures. 61
33654593 2021
Proteomic and metabolomic advances uncover biomarkers of mitochondrial disease pathophysiology and severity. 61
33463543 2021
Mitochondrial DNA m.3243A>G mutation rarely causes CADASIL-like phenotype. 61
32950272 2021
SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature. 61
33230783 2020
Depletion of TMEM65 leads to oxidative stress, apoptosis, induction of mitochondrial unfolded protein response, and upregulation of mitochondrial protein import receptor TOMM22. 61
33319071 2020
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. 61
33396418 2020
Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures. 61
32671698 2020
Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures. 61
32488845 2020
Recurrent Stroke Events Secondary to a Late Presentation of Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Symptoms (MELAS) Syndrome. 61
33282603 2020
Mitochondrial Nuclear Retrograde Regulator 1 (MNRR1) rescues the cellular phenotype of MELAS by inducing homeostatic mechanisms. 61
33257573 2020
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease. 61
33230181 2020
MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNATrp and remarkable mitochondrial dysfunction. 61
33208382 2020
Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. 61
33153448 2020
Aphasic status epilepticus in a tertiary referral center in Turkey: Clinical features, etiology, and outcome. 61
33038720 2020
Expanding and validating the biomarkers for mitochondrial diseases. 61
32851462 2020
Use of negative pressure wound therapy to treat a cochlear implant infection around the auricle: a case report. 61
33052790 2020
Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells. 61
32786181 2020
SLC19A3 Loss-of-Function Variant in Yorkshire Terriers with Leigh-Like Subacute Necrotizing Encephalopathy. 61
33081289 2020
Altered spontaneous brain activity at attack and remission stages in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): Beyond stroke-like lesions. 61
32679169 2020
[Management of patients with MELAS syndrome : A case report and general characteristics from an anesthesiological perspective]. 61
32424662 2020
Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome: A case-report and literature review (CARE-complaint). 61
32541454 2020
Therapeutic Potential of Citrulline as an Arginine Supplement: A Clinical Pharmacology Review. 61
32140997 2020
Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency. 61
31944455 2020
Late-onset Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) Syndrome in a 63-year-old Patient. 61
32483512 2020
Mitochondrial diseases in North America: An analysis of the NAMDC Registry. 61
32337332 2020
m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity. 61
32320658 2020
Organoid cultures of MELAS neural cells reveal hyperactive Notch signaling that impacts neurodevelopment. 61
32170107 2020
Improved Dried Blood Spot-Based Metabolomics: A Targeted, Broad-Spectrum, Single-Injection Method. 61
32120852 2020
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations. 61
32042910 2020
Autophagy and Mitochondrial Encephalomyopathies. 61
32671741 2020
Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families. 61
31722256 2020
L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome. 61
32881886 2020
Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution. 61
31806591 2020
Advances in mt-tRNA Mutation-Caused Mitochondrial Disease Modeling: Patients' Brain in a Dish. 61
33510772 2020
Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia. 61
32063883 2020

Variations for Mitochondrial Encephalomyopathy

ClinVar genetic disease variations for Mitochondrial Encephalomyopathy:

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

Copy number variations for Mitochondrial Encephalomyopathy from CNVD:

# 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 respiratory chain GO:0070469 9.76 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB
2 mitochondrial inner membrane GO:0005743 9.73 SLC25A42 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
3 mitochondrial membrane GO:0031966 9.62 NDUFA1 MT-ND6 MT-ND4 MT-ND1
4 mitochondrial respiratory chain complex I GO:0005747 9.56 NDUFA1 MT-ND5 MT-ND4 MT-ND1
5 mitochondrion GO:0005739 9.53 SUCLA2 SLC25A42 NDUFA1 MT-ND6 MT-ND5 MT-ND4
6 mitochondrial respiratory chain complex III GO:0005750 9.4 MT-CYB MT-CO1
7 respiratory chain complex IV GO:0045277 9.37 MT-CO2 MT-CO1

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 9.91 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.55 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
3 aerobic respiration GO:0009060 9.54 MT-ND4 MT-ND1 MT-CO1
4 ATP synthesis coupled electron transport GO:0042773 9.5 MT-ND5 MT-ND4 MT-CO2
5 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.46 MT-CO2 MT-CO1
6 respiratory electron transport chain GO:0022904 9.43 MT-CYB MT-CO1
7 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 AIFM1
8 response to copper ion GO:0046688 9.4 MT-CYB MT-CO1
9 electron transport coupled proton transport GO:0015990 8.92 MT-ND5 MT-ND4 MT-CYB MT-CO1

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

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 9.16 MT-CO2 MT-CO1
2 NADH dehydrogenase activity GO:0003954 9.13 MT-ND5 MT-ND4 MT-ND1
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.02 NDUFA1 MT-ND6 MT-ND5 MT-ND4 MT-ND1

Sources for Mitochondrial Encephalomyopathy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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