MCID: MTC004
MIFTS: 43

Mitochondrial Encephalomyopathy malady

Summaries for Mitochondrial Encephalomyopathy

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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

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8Disease Ontology, 60UMLS, 34MeSH
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Aliases & Descriptions:

mitochondrial encephalomyopathy 8
mitochondrial encephalomyopathies 60


External Ids:

Disease Ontology8 DOID:890
MeSH34 D017237

Related Diseases for Mitochondrial Encephalomyopathy

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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 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

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Drugs & Therapeutics for Mitochondrial Encephalomyopathy

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5CenterWatch, 41NIH 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

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Anatomical Context for Mitochondrial Encephalomyopathy

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32MalaCards
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MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

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

Animal Models for Mitochondrial Encephalomyopathy or affiliated genes

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Publications for Mitochondrial Encephalomyopathy

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50PubMed
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Articles related to Mitochondrial Encephalomyopathy:

(show top 50)    (show all 324)
idTitleAuthorsYear
1
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (23993194)
2013
2
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. (24367056)
2013
3
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. (22711161)
2012
4
Multiple cranial nerve enhancement in mitochondrial neurogastrointestinal encephalomyopathy. (20351514)
2010
5
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. (19589463)
2009
6
Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (19095975)
2009
7
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes in a 69-year-old woman. (18613903)
2008
8
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. (18787099)
2008
9
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene. (18280229)
2008
10
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. (18771761)
2008
11
A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (17544574)
2007
12
Cardiac transplantation in a 14-yr-old patient with mitochondrial encephalomyopathy. (17631029)
2007
13
The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy. (17342029)
2006
14
Fatal cerebral hemorrhage in mitochondrial encephalomyopathy. Clinical and pathological data of a case. (16283102)
2006
15
Pathology of mitochondrial encephalomyopathies. (16018150)
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
Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. (14673554)
2004
19
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report. (15042378)
2004
20
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. (12529715)
2003
21
Overexpressions of myoglobin and antioxidant enzymes in ragged-red fibers of skeletal muscle from patients with mitochondrial encephalomyopathy. (14506721)
2003
22
Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. (11913571)
2002
23
Electrophysiological analysis of cognitive slowing in subjects with mitochondrial encephalomyopathy. (11809159)
2002
24
Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies. (11312605)
2001
25
Discordance between cerebral oxygen and glucose metabolism, and hemodynamics in a mitochondrial encephalomyopathy, lactic acidosis, and strokelike episode patient. (11462305)
2001
26
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. (11047755)
2000
27
Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy. (9737248)
1998
28
Mitochondrial encephalomyopathy (Kearns-Sayre syndrome) with complete atrioventricular block: a case report. (9741743)
1998
29
Mitochondrial encephalomyopathy with 15915 mutation: clinical report. (9367299)
1997
30
Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2. (9187476)
1997
31
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
32
An adult with inherited mitochondrial encephalomyopathy: report of a case. (9366478)
1997
33
A family affected by mitochondrial encephalomyopathy: a nursing protocol. (9362650)
1997
34
Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. (9361028)
1997
35
Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T). (9168904)
1997
36
Simple and rapid detection of large mitochondrial DNA deletions in mitochondrial encephalomyopathy by long PCR. (8965858)
1996
37
Cerebral oxygen and glucose metabolism and blood flow in mitochondrial encephalomyopathy: a PET study. (8692416)
1996
38
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
39
Home mechanical ventilation in mitochondrial encephalomyopathy syndrome. (7487448)
1995
40
Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene. (7854527)
1995
41
Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (7965431)
1994
42
Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study. (1575024)
1992
43
A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies. (1606473)
1992
44
Stroke-like episodes in familial mitochondrial encephalomyopathy: clinical and biochemical aspects. (1906933)
1991
45
Involvement of extraocular muscle in mitochondrial encephalomyopathy. (2117841)
1990
46
Mitochondrial encephalomyopathy with pilovacuolar inclusion or phenocopy with mitochondrial artefact? (2795106)
1989
47
Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. (3180221)
1988
48
Mitochondrial encephalomyopathy. A variant with heart failure and liver steatosis. (3673521)
1987
49
Variation in the levels of complex I subunits among tissues in a patient with mitochondrial encephalomyopathy and renal dysfunction. (3134026)
1987
50
Familial mitochondrial encephalomyopathy with stroke-like episodes and episodic disturbances of consciousness: a study of pedigree including three generations with multisystemic abnormalities. (3626195)
1987

Genetic Variations for Mitochondrial Encephalomyopathy

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Expression for genes affiliated with Mitochondrial Encephalomyopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mitochondrial Encephalomyopathy

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Pathways for genes affiliated with Mitochondrial Encephalomyopathy

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Mitochondrial Encephalomyopathy

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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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

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16Gene Ontology
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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

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Sources for Mitochondrial Encephalomyopathy

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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