MCID: MTC004
MIFTS: 38

Mitochondrial Encephalomyopathy malady

Summaries for Mitochondrial Encephalomyopathy

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33MalaCards
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MalaCards: Mitochondrial Encephalomyopathy, also known as mitochondrial encephalomyopathies, is related to melas syndrome and kearns-sayre 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.

Aliases & Classifications for Mitochondrial Encephalomyopathy

Sources:
8Disease Ontology, 61UMLS, 35MeSH
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Aliases & Descriptions:

mitochondrial encephalomyopathy 8
mitochondrial encephalomyopathies 61


External Ids:

Disease Ontology8 DOID:890
MeSH35 D017237

Related Diseases for Mitochondrial Encephalomyopathy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Mitochondrial Encephalomyopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1melas syndrome31.0MT-TL1, MT-ND5
2kearns-sayre syndrome30.6COX5A, CPOX
3mitochondrial disorders30.6COX5A, HSPD1, MT-ATP6, CPOX
4mitochondrial complex i deficiency30.1NDUFA1, MT-ND6, MT-ND5
5leigh disease30.1MT-ND5, MT-ATP6
6parkinson's disease30.1SOD2, GHRH, MT-ND5, NDUFS4, COX5A, AIFM1
7encephalomyopathy11.3
8mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.6
9say syndrome10.4
10mitochondrial cardiomyopathy10.4
11combined oxidative phosphorylation deficiency 610.3
12myoclonus10.3
13hypoparathyroidism10.2
14cerebellar degeneration10.2
15sleep apnea10.2
16fastkd2-related infantile mitochondrial encephalomyopathy10.2
17ramsay-hunt syndrome10.2
18atrioventricular block10.1
19pearson syndrome10.1
20focal segmental glomerulosclerosis10.1
21alpers syndrome10.1
22sensorineural hearing loss10.1
23myoclonic cerebellar dyssynergia10.1
24amenorrhea10.1
25primary open angle glaucoma10.1
26mu chain disease10.1
27fanconi syndrome10.1
28hypertrophic cardiomyopathy10.1
29mutism10.1
30focal glomerulosclerosis10.1
31n syndrome10.1
32vitiligo10.1
33autosomal dominant disease10.1
34autosomal genetic disease10.1
353-m syndrome10.1
36acetyl-carnitine deficiency10.1
37toni-fanconi syndrome10.1
38fatal infantile encephalomyopathy10.1
39growth hormone deficiency10.1
40herpes simplex encephalitis10.1
41mental retardation10.1
42ataxia10.1
43septic shock10.1
44mitochondrial dna depletion syndrome 510.1
45fibromyalgia10.1
46ileus10.1
47lactic acidosis10.0MT-ND5
48galactosemia10.0SOD2
49neuropathy10.0MSTN, SOD2
50opa3-related 3-methylglutaconic aciduria10.0MT-ND4

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



Diseases related to mitochondrial encephalomyopathy

Clinical Features for Mitochondrial Encephalomyopathy

Drugs & Therapeutics for Mitochondrial Encephalomyopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Anatomical Context for Mitochondrial Encephalomyopathy

Animal Models for Mitochondrial Encephalomyopathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Mitochondrial Encephalomyopathy

Sources:
51PubMed
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Articles related to Mitochondrial Encephalomyopathy:

(show top 50)    (show all 304)
idTitleAuthorsYear
1
Mitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients. (23302282)
2013
2
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. (24367056)
2013
3
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. (21933806)
2011
4
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. (21503690)
2011
5
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (20362274)
2010
6
Multiple cranial nerve enhancement in mitochondrial neurogastrointestinal encephalomyopathy. (20351514)
2010
7
Mitochondrial neurogastrointestinal encephalomyopathy: case report. (20931438)
2010
8
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene. (18280229)
2008
9
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. (18396137)
2008
10
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. (18771761)
2008
11
Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome. (17351361)
2007
12
A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (17544574)
2007
13
Fatal cerebral hemorrhage in mitochondrial encephalomyopathy. Clinical and pathological data of a case. (16283102)
2006
14
Mitochondrial neurogastrointestinal encephalomyopathy. (16245230)
2005
15
Episodic hyponatremia in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). (15794176)
2005
16
Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE). (16294144)
2005
17
A previously diagnosed mitochondrial neurogastrointestinal encephalomyopathy patient presenting with perforated ileal diverticulitis. (16547854)
2005
18
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report. (15042378)
2004
19
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. (12529715)
2003
20
Overexpressions of myoglobin and antioxidant enzymes in ragged-red fibers of skeletal muscle from patients with mitochondrial encephalomyopathy. (14506721)
2003
21
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. (12121356)
2002
22
Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association. (10653316)
1999
23
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
24
Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy. (9737248)
1998
25
A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9875091)
1998
26
A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. (9559985)
1998
27
Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2. (9187476)
1997
28
Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): radiolabeled polymerase chain reaction is necessary for accurate detection of low percentages of mutation. (9284704)
1997
29
An adult with inherited mitochondrial encephalomyopathy: report of a case. (9366478)
1997
30
Polysomnographic findings in a patient with the mitochondrial encephalomyopathy NARP. (9409376)
1997
31
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. (9153450)
1997
32
Periodic lateralized epileptiform discharges in mitochondrial encephalomyopathy. (9305284)
1997
33
Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T). (9168904)
1997
34
Cerebral oxygen and glucose metabolism and blood flow in mitochondrial encephalomyopathy: a PET study. (8692416)
1996
35
An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA. (8836506)
1996
36
Acute renal failure and the MELAS syndrome, a mitochondrial encephalomyopathy. (8738797)
1996
37
Mitochondrial encephalomyopathy of mixed MELAS type. (9812422)
1996
38
Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. (7496082)
1995
39
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. (8551315)
1995
40
Free radical, lipid peroxide and antioxidant in mitochondrial encephalomyopathy]. (7955720)
1994
41
Decreased synthesis and inefficient mitochondrial import of hsp60 in a patient with a mitochondrial encephalomyopathy. (7986829)
1994
42
Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies. (8388688)
1993
43
Stroke-like episodes in familial mitochondrial encephalomyopathy: clinical and biochemical aspects. (1906933)
1991
44
Muscle mitochondrial DNA in encephalomyopathy and ragged red fibres: a Southern blot analysis and literature review. (1908005)
1991
45
Mitochondrial encephalomyopathy with pilovacuolar inclusion or phenocopy with mitochondrial artefact? (2795106)
1989
46
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
47
Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency. (2540284)
1989
48
Variation in the levels of complex I subunits among tissues in a patient with mitochondrial encephalomyopathy and renal dysfunction. (3134026)
1987
49
Familial mitochondrial encephalomyopathy with stroke-like episodes and episodic disturbances of consciousness: a study of pedigree including three generations with multisystemic abnormalities. (3626195)
1987
50
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. (3736629)
1986

Genetic Variations for Mitochondrial Encephalomyopathy

Expression for genes affiliated with Mitochondrial Encephalomyopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Mitochondrial Encephalomyopathy

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Mitochondrial Encephalomyopathy according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1hydrogen45 2411.8CPOX
2solium4510.7MT-ND1, MT-ATP6
3ubiquinone4510.7MT-ND4, COQ2, NDUFS4
4N-Formylmethionine1110.6MT-ND1, MT-CO2, COX5A
5rofecoxib45 50 29 1113.6MT-CO2, CPOX, COX5A
6thenoyltrifluoroacetone45 1111.6NDUFS4, SOD2
7myxothiazol45 1111.6NDUFS4, SOD2
8mptp4510.6AIFM1, SOD2, NDUFS4
93-nitrotyrosine4510.6SOD2, NDUFS4
10rotenone4510.6AIFM1, MT-ND1, NDUFS4, SOD2, MT-ND6
11valine4510.6MT-ND1, MT-ND6, MT-ND4, MT-ND5, SOD2
12diphenyleneiodonium4510.6COX5A, NDUFS4, SOD2
13prostaglandin4510.5COX5A, MT-CO2, CPOX, AIFM1
14malate4510.5NDUFS4, COX5A, HSPD1, SOD2
15peroxynitrite4510.5CPOX, COX5A, NDUFS4, SOD2
16glucose4510.5CPOX, NDUFS4, GHRH, MSTN, AIFM1
17meloxicam45 1111.5CPOX, COX5A
18nad29 2411.5MT-ND6, MT-ND4, NDUFA1, MT-ND5, MT-ND1, NDUFS4
19succinate4510.5SOD2, MT-ND4, CPOX, NDUFS4, COX5A
20manganese superoxide4510.5NDUFS4, HSPD1, SOD2
21glyceraldehyde 3-phosphate4510.5MT-CO2, SOD2, NDUFS4, HSPD1, MSTN
22methionine4510.5MT-ND1, AIFM1, MT-ND5, MT-ND6
23onoo4510.5SOD2, COX5A
24n acetylcysteine4510.5AIFM1, SOD2, NDUFS4, HSPD1, COX5A
25doxorubicin45 50 1112.4AIFM1, COX5A, NDUFS4, SOD2, HSPD1
26zidovudine45 1111.4MT-CO2, COX5A, SOD2
27fatty acid4510.4CPOX, AIFM1, HSPD1, COX5A, GHRH
28copper45 2411.4COX5A, CPOX, HSPD1, SOD2, MT-CO2, AIFM1
29pyruvate4510.4MT-ND4, COX5A, HSPD1, NDUFS4, SOD2, MT-ND1
30citrate4510.4NDUFS4, CPOX, SOD2, HSPD1, COX5A, MT-CO2
31superoxide45 2411.4NDUFS4, CPOX, AIFM1, COX5A, HSPD1, SOD2
32nad+4510.4AIFM1, MT-ND4, NDUFS4
33indomethacin45 60 29 1113.4COX5A, SOD2, HSPD1, CPOX
34h2o24510.4HSPD1, NDUFS4, SOD2, AIFM1, CPOX, COX5A
35dexamethasone45 50 29 1113.3COX5A, HSPD1, MSTN, CPOX, GHRH, SOD2
36alanine4510.3MT-ND5, MT-ND1, MT-ND6, CPOX, SOD2, HSPD1
37nitric oxide45 11 2412.3NDUFS4, SOD2, GHRH, AIFM1, COX5A, CPOX
38oligomycin4510.3NDUFS4, MT-ATP6
39glutamate4510.3CPOX, AIFM1, GHRH, NDUFS4, HSPD1, COX5A
40naproxen45 11 2412.3COX5A, CPOX
41ethanol45 50 11 2413.3CPOX, HSPD1, GHRH, COX5A
42lipid4510.2SOD2, GHRH, AIFM1, NDUFS4, HSPD1, COX5A
43iron45 2411.2CPOX, COX5A, NDUFS4, NDUFA1, HSPD1, SOD2
44lactate4510.2MT-ND4, COX5A, HSPD1, NDUFS4, SOD2, MT-CO2
45didanosine45 1111.2COX5A, MT-CO2
46oxygen45 2411.1HSPD1, NDUFS4, MT-ND6, MT-CO2, CPOX, MSTN
47atp45 2911.1HSPD1, NDUFS4, CPOX, MT-ATP6, SOD2, MT-CO2
48nadh45 11 2412.1AIFM1, SOD2, MT-ND5, CPOX, MT-ND4, MT-ND1
49serine4510.0MT-ND5, NDUFS4, AIFM1, COX5A, GHRH, MT-ND6
50antimycin a4510.0NDUFS4, SOD2

GO Terms for genes affiliated with Mitochondrial Encephalomyopathy

Sources:
16Gene Ontology
See all sources

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

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

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

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Sources for Mitochondrial Encephalomyopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet