MCID: MTC004
MIFTS: 43

Mitochondrial Encephalomyopathy malady

Summaries for Mitochondrial Encephalomyopathy

About this section
Sources:
32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Mitochondrial Encephalomyopathy, also known as mitochondrial encephalomyopathies, is related to lactic acidosis and melas syndrome. An important gene associated with Mitochondrial Encephalomyopathy is COQ2 (coenzyme Q2 4-hydroxybenzoate polyprenyltransferase), and among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds hydrogen and solium have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and cortex.

Aliases & Classifications for Mitochondrial Encephalomyopathy

About this section
Sources:
8Disease Ontology, 60UMLS, 34MeSH
See all sources

Aliases & Descriptions:

mitochondrial encephalomyopathy 8
mitochondrial encephalomyopathies 60


External Ids:

Disease Ontology8 DOID:890
MeSH34 D017237

Related Diseases for Mitochondrial Encephalomyopathy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis31.4MT-ND5
2melas syndrome31.0MT-ND5, MT-TL1
3mitochondrial disorders30.7CPOX, MT-ATP6, HSPD1, COX5A
4kearns-sayre syndrome30.6COX5A, CPOX
5diabetes mellitus30.4MT-ND1, SOD2, HSPD1
6parkinson's disease30.3COX5A, NDUFS4, SOD2, GHRH, MT-ND1, MT-ND5
7mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.6
8cerebritis10.5
9combined oxidative phosphorylation deficiency 610.3
10choroiditis10.2
11hypoparathyroidism10.2
12muscular dystrophy10.2
13ophthalmoplegia10.2
14pancreatitis10.2
15fastkd2-related infantile mitochondrial encephalomyopathy10.2
16atrioventricular block10.1
17pearson syndrome10.1
18focal segmental glomerulosclerosis10.1
19alpers syndrome10.1
20sensorineural hearing loss10.1
21amenorrhea10.1
22primary open angle glaucoma10.1
23fanconi syndrome10.1
24hypertrophic cardiomyopathy10.1
25mutism10.1
26diabetic cataract10.1
27focal glomerulosclerosis10.1
28metabolic acidosis10.1
29vitiligo10.1
30autosomal dominant disease10.1
31autosomal genetic disease10.1
32cataract10.1
33dementia10.1
34encephalitis10.1
35glaucoma10.1
36herpes simplex10.1
37intestinal obstruction10.1
38leukodystrophy10.1
39myotonic dystrophy10.1
40open-angle glaucoma10.1
41image syndrome10.1
42encephalomyopathy10.1
43mitochondrial dna depletion syndrome 510.1
44galactosemia10.0SOD2
45neuropathy10.0MSTN, SOD2
46opa3-related 3-methylglutaconic aciduria10.0MT-ND4
47multiple sclerosis10.0HSPD1, COX5A
48colorectal cancer10.0COX5A
49blindness10.0MT-ND4
50leber hereditary optic neuropathy with dystonia10.0MT-ND6, MT-ND4

Graphical network of the top 20 diseases related to Mitochondrial Encephalomyopathy:



Diseases related to mitochondrial encephalomyopathy

Clinical Features for Mitochondrial Encephalomyopathy

About this section

Drugs & Therapeutics for Mitochondrial Encephalomyopathy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Mitochondrial Encephalomyopathy

Drug clinical trials:

Search ClinicalTrials for Mitochondrial Encephalomyopathy

Search NIH Clinical Center for Mitochondrial Encephalomyopathy

Search CenterWatch for Mitochondrial Encephalomyopathy

Genetic Tests for Mitochondrial Encephalomyopathy

About this section

Anatomical Context for Mitochondrial Encephalomyopathy

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

32
Brain, Skeletal muscle, Cortex, Heart, Skin, Pituitary, Smooth muscle, Small intestine, Liver, Spinal cord, Endothelial, Eye

Animal Models for Mitochondrial Encephalomyopathy or affiliated genes

About this section

Publications for Mitochondrial Encephalomyopathy

About this section
Sources:
50PubMed
See all sources

Articles related to Mitochondrial Encephalomyopathy:

(show top 50)    (show all 324)
idTitleAuthorsYear
1
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
2
Preclinical toxicity evaluation of erythrocyte-encapsulated thymidine phosphorylase in BALB/c mice and beagle dogs: an enzyme-replacement therapy for mitochondrial neurogastrointestinal encephalomyopathy. (22977166)
2013
3
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. (21993618)
2012
4
A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features. (20708751)
2010
5
Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss. (20546644)
2010
6
A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy. (19744136)
2010
7
Mitochondrial neurogastrointestinal encephalomyopathy. (19877753)
2009
8
Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa. (19339372)
2009
9
Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions. (18332256)
2008
10
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. (17437622)
2007
11
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. (17287286)
2007
12
Excessive fragmentary hypnic myoclonus in a patient affected by a mitochondrial encephalomyopathy. (17097919)
2006
13
Mitochondrial neurogastrointestinal encephalomyopathy and its pathophysiology. (16679693)
2006
14
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism. (17092469)
2006
15
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. (15781193)
2005
16
MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy. (15150004)
2004
17
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. (12825077)
2003
18
Anaesthesia for an adolescent with mitochondrial encephalomyopathy-lactic acidosis-stroke-like episodes syndrome. (12791122)
2003
19
Is there a final common pathway in mitochondrial encephalomyopathies? Considerations based on an autopsy case of Kearns-Sayre syndrome. (14531549)
2003
20
Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses. (16120316)
2002
21
Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies. (11382203)
2000
22
Mitochondrial encephalomyopathy. (11037195)
2000
23
Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS). (10233312)
1999
24
Mitochondrial cytopathy, encephalomyopathy, lactic acidosis, stroke like episodes with optic atrophy: a rare association. (10999168)
1999
25
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. (10205264)
1999
26
Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. (9718939)
1998
27
Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy. (8670183)
1996
28
Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. (8918062)
1996
29
Acute renal failure and the MELAS syndrome, a mitochondrial encephalomyopathy. (8738797)
1996
30
A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy. (8769114)
1996
31
Superoxide dismutases of muscle in mitochondrial encephalomyopathies. (7565923)
1995
32
Corticosteroid responsive mitochondrial encephalomyopathy. (8297286)
1993
33
Quantitative evaluation of electron transport system proteins in mitochondrial encephalomyopathy. (8386896)
1993
34
Mitochondrial encephalomyopathy: variable clinical expression within a single kindred. (8350109)
1993
35
Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies. (8101114)
1993
36
Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes. (8363469)
1993
37
An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. (1792871)
1991
38
Mitochondrial encephalomyopathy presenting with clinical Leigh's disease: report of a case. (1848464)
1991
39
Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy. (1670860)
1991
40
HMPAO-SPECT imaging resembling Alzheimer-type dementia in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). (2213201)
1990
41
A mitochondrial encephalomyopathy with specific deficiencies of two respiratory chain polypeptides and a circulating autoantibody to a mitochondrial matrix protein. (2328411)
1990
42
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy. (2501579)
1989
43
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with special reference to the mechanism of cerebral manifestations. (2515713)
1989
44
Pleiotropic molecular defects in energy-transducing complexes in mitochondrial encephalomyopathy (MELAS). (2809615)
1989
45
Dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome): a condition unrelated to mitochondrial encephalomyopathies. (2703843)
1989
46
Maternal inheritance in a family with mitochondrial encephalomyopathy. (2662209)
1989
47
Mitochondrial encephalomyopathy with sleep apnea. (3371383)
1988
48
An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain. (2844999)
1988
49
Mitochondrial encephalomyopathy, ataxia, and sleep apnea. (3614675)
1987
50
Involvement of choroid plexus in mitochondrial encephalomyopathy (MELAS). (3434208)
1987

Genetic Variations for Mitochondrial Encephalomyopathy

About this section

Expression for genes affiliated with Mitochondrial Encephalomyopathy

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Mitochondrial Encephalomyopathy

Search GEO for disease gene expression data for Mitochondrial Encephalomyopathy.

Pathways for genes affiliated with Mitochondrial Encephalomyopathy

About this section
Sources:
53Reactome, 29KEGG, 37NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Mitochondrial Encephalomyopathy

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
See all sources

Compounds related to Mitochondrial Encephalomyopathy according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1hydrogen44 2411.8CPOX
2solium4410.7MT-ND1, MT-ATP6
3ubiquinone4410.7COQ2, NDUFS4, MT-ND4
4N-Formylmethionine1110.6COX5A, MT-CO2, MT-ND1
5rofecoxib44 49 28 1113.6CPOX, MT-CO2, COX5A
6thenoyltrifluoroacetone44 1111.6NDUFS4, SOD2
7myxothiazol44 1111.6NDUFS4, SOD2
8mptp4410.6NDUFS4, SOD2, AIFM1
93-nitrotyrosine4410.6SOD2, NDUFS4
10rotenone4410.6NDUFS4, SOD2, MT-ND6, MT-ND1, AIFM1
11valine4410.6MT-ND5, MT-ND4, MT-ND1, MT-ND6, SOD2
12diphenyleneiodonium4410.6COX5A, NDUFS4, SOD2
13prostaglandin4410.5COX5A, MT-CO2, AIFM1, CPOX
14malate4410.5COX5A, HSPD1, NDUFS4, SOD2
15peroxynitrite4410.5CPOX, SOD2, NDUFS4, COX5A
16glucose4410.5NDUFS4, GHRH, AIFM1, MSTN, CPOX
17meloxicam44 1111.5CPOX, COX5A
18nad28 2411.5NDUFS4, NDUFA1, MT-ND6, MT-ND1, MT-ND4, MT-ND5
19succinate4410.5COX5A, NDUFS4, SOD2, MT-ND4, CPOX
20manganese superoxide4410.5SOD2, NDUFS4, HSPD1
21glyceraldehyde 3-phosphate4410.5HSPD1, NDUFS4, SOD2, MT-CO2, MSTN
22methionine4410.5AIFM1, MT-ND5, MT-ND1, MT-ND6
23onoo4410.5SOD2, COX5A
24n acetylcysteine4410.5AIFM1, SOD2, NDUFS4, HSPD1, COX5A
25doxorubicin44 49 1112.4COX5A, HSPD1, NDUFS4, SOD2, AIFM1
26zidovudine44 1111.4COX5A, SOD2, MT-CO2
27fatty acid4410.4COX5A, HSPD1, GHRH, AIFM1, CPOX
28copper44 2411.4COX5A, HSPD1, SOD2, MT-CO2, AIFM1, CPOX
29pyruvate4410.4COX5A, HSPD1, NDUFS4, SOD2, MT-ND1, MT-ND4
30citrate4410.4COX5A, HSPD1, NDUFS4, SOD2, MT-CO2, CPOX
31superoxide44 2411.4COX5A, HSPD1, NDUFS4, SOD2, AIFM1, CPOX
32nad+4410.4AIFM1, MT-ND4, NDUFS4
33indomethacin44 59 28 1113.4COX5A, HSPD1, SOD2, CPOX
34h2o24410.4CPOX, AIFM1, SOD2, NDUFS4, HSPD1, COX5A
35dexamethasone44 49 28 1113.3COX5A, HSPD1, SOD2, GHRH, MSTN, CPOX
36alanine4410.3HSPD1, SOD2, MT-ND6, MT-ND1, MT-ND5, CPOX
37nitric oxide44 11 2412.3COX5A, NDUFS4, SOD2, GHRH, AIFM1, CPOX
38oligomycin4410.3MT-ATP6, NDUFS4
39glutamate4410.3COX5A, HSPD1, NDUFS4, GHRH, AIFM1, CPOX
40naproxen44 11 2412.3CPOX, COX5A
41ethanol44 49 11 2413.3COX5A, HSPD1, GHRH, CPOX
42lipid4410.2COX5A, HSPD1, NDUFS4, SOD2, GHRH, AIFM1
43iron44 2411.2COX5A, HSPD1, NDUFS4, NDUFA1, SOD2, MT-ND6
44lactate4410.2COX5A, HSPD1, NDUFS4, SOD2, MT-CO2, MT-ND1
45didanosine44 1111.2COX5A, MT-CO2
46oxygen44 2411.1SOD2, NDUFS4, HSPD1, COX5A, MT-ND6, MT-CO2
47atp44 2811.1COX5A, HSPD1, NDUFS4, SOD2, MT-CO2, MT-ATP6
48nadh44 11 2412.1CPOX, COX5A, NDUFS4, NDUFA1, SOD2, MT-ND6
49serine4410.0COX5A, NDUFS4, GHRH, MT-ND6, MT-ND1, MT-ND5
50antimycin a4410.0SOD2, NDUFS4

GO Terms for genes affiliated with Mitochondrial Encephalomyopathy

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Mitochondrial Encephalomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057399.9HSPD1, NDUFS4, NDUFA1, SOD2, FASTKD2, AIFM1
2mitochondrial inner membraneGO:0057439.6CPOX, COQ2, COX5A, HSPD1, NDUFS4, NDUFA1

Biological processes related to Mitochondrial Encephalomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to electrical stimulusGO:05160210.3SOD2, MSTN
2cellular metabolic processGO:04423710.2NDUFA1, NDUFS4, COX5A
3cellular respirationGO:04533310.2NDUFS4, FASTKD2
4respiratory electron transport chainGO:02290410.2SOD2, NDUFA1, NDUFS4, COX5A
5mitochondrial respiratory chain complex I assemblyGO:03298110.0NDUFS4, AIFM1

Products for genes affiliated with Mitochondrial Encephalomyopathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Encephalomyopathy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet