MCID: MTC004
MIFTS: 36

Mitochondrial Encephalomyopathy malady

Muscle diseases category
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Summaries for Mitochondrial Encephalomyopathy

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MalaCards based summary: 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 tRNA Aminoacylation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds ubiquinone and nad+ 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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Mitochondrial Encephalomyopathy, Aliases & Descriptions:

Name: Mitochondrial Encephalomyopathy 8
 
Mitochondrial Encephalomyopathies 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle diseases


External Ids:

Disease Ontology8 DOID:890
MeSH34 D017237

Related Diseases for Mitochondrial Encephalomyopathy

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis31.3MT-ND4, MT-ND1
2melas syndrome30.5MT-ND1, MT-ND6, MT-ND4
3parkinson's disease30.5AIFM1, MT-ND1
4mitochondrial disorders29.8MT-TK, MT-ND6, MT-ND4, MT-TL1, MT-ND1
5encephalomyopathy11.3
6mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.9
7cerebritis10.5
8kearns-sayre syndrome10.5
9diabetes mellitus10.4
10combined oxidative phosphorylation deficiency 610.4
11myoclonus10.4
12choroiditis10.3
13hypoparathyroidism10.3
14muscular dystrophy10.3
15ophthalmoplegia10.3
16pancreatitis10.3
17sleep apnea10.3
18aminoacidopathies10.3
19fastkd2-related infantile mitochondrial encephalomyopathy10.3
20ramsay-hunt syndrome10.3
21cataract10.1
22cerebral hemorrhage10.1
23focal segmental glomerulosclerosis10.1
24pearson syndrome10.1
25primary open angle glaucoma10.1
26vitiligo10.1
27fanconi syndrome10.1
28amenorrhea10.1
29hypertrophic cardiomyopathy10.1
30sensorineural hearing loss10.1
31mutism10.1
32superior mesenteric artery syndrome10.1
33atrioventricular block10.1
34dementia10.1
35encephalitis10.1
36glomerulosclerosis10.1
37herpes simplex10.1
38intestinal obstruction10.1
39leukodystrophy10.1
40open-angle glaucoma10.1
41retinoblastoma10.1
42myotonic dystrophy10.1
43growth hormone deficiency10.1
44herpes simplex encephalitis10.1
45mental retardation10.1
46mitochondrial cardiomyopathy10.1
47ataxia10.1
48septic shock10.1
49mitochondrial dna depletion syndrome 510.1
50ileus10.1

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



Diseases related to mitochondrial encephalomyopathy

Symptoms for Mitochondrial Encephalomyopathy

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Drugs & Therapeutics for Mitochondrial Encephalomyopathy

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Drug clinical trials:

Search ClinicalTrials for Mitochondrial Encephalomyopathy

Search NIH Clinical Center for Mitochondrial Encephalomyopathy

Genetic Tests for Mitochondrial Encephalomyopathy

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Anatomical Context for Mitochondrial Encephalomyopathy

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MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

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

Animal Models for Mitochondrial Encephalomyopathy or affiliated genes

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Publications for Mitochondrial Encephalomyopathy

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Articles related to Mitochondrial Encephalomyopathy:

(show top 50)    (show all 238)
idTitleAuthorsYear
1
Mitochondrial encephalomyopathy: towards diagnosis. A case report. (24636775)
2014
2
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (23993194)
2013
3
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. (23836383)
2013
4
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
5
Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (21076841)
2011
6
A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome. (22611618)
2011
7
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (20362274)
2010
8
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. (19589463)
2009
9
Identification of novel mutations in five patients with mitochondrial encephalomyopathy. (18977334)
2009
10
Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (17204916)
2006
11
Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. (14673554)
2004
12
Anaesthesia for an adolescent with mitochondrial encephalomyopathy-lactic acidosis-stroke-like episodes syndrome. (12791122)
2003
13
Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. (11913571)
2002
14
An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure. (11506313)
2001
15
Ultrastructural study of mother and daughter muscle changes with mitochondrial encephalomyopathy. (11928899)
2001
16
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. (11047755)
2000
17
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
18
Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy. (9678517)
1998
19
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
20
Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. (9435428)
1998
21
Mitochondrial encephalomyopathy with 15915 mutation: clinical report. (9367299)
1997
22
Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2. (9187476)
1997
23
Benign mitochondrial encephalomyopathy in a patient with complex I deficiency. (8739952)
1996
24
Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. (8918062)
1996
25
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
26
Superoxide dismutases of muscle in mitochondrial encephalomyopathies. (7565923)
1995
27
Home mechanical ventilation in mitochondrial encephalomyopathy syndrome. (7487448)
1995
28
Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. (7496082)
1995
29
Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. (7783765)
1995
30
Gonadal dysfunction in mitochondrial encephalomyopathies. (8542917)
1995
31
Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA(LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). (7988784)
1994
32
Free radical, lipid peroxide and antioxidant in mitochondrial encephalomyopathy]. (7955720)
1994
33
Corticosteroid responsive mitochondrial encephalomyopathy. (8297286)
1993
34
Quantitative evaluation of electron transport system proteins in mitochondrial encephalomyopathy. (8386896)
1993
35
An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extra-neuromuscular abnormalities. (1471529)
1992
36
Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study. (1575024)
1992
37
Purpuric cutaneous manifestations in mitochondrial encephalomyopathy. (1939857)
1991
38
An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. (1792871)
1991
39
HMPAO-SPECT imaging resembling Alzheimer-type dementia in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). (2213201)
1990
40
Mitochondrial encephalomyopathy with pilovacuolar inclusion or phenocopy with mitochondrial artefact? (2795106)
1989
41
Non-epileptic myoclonus and mitochondrial encephalomyopathy. (2619613)
1989
42
Hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases. (2537772)
1989
43
Increased accumulation of N-isopropyl-p-(123I)-iodoamphetamine in two cases with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS). (2636890)
1989
44
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
45
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy. (2501579)
1989
46
Involvement of choroid plexus in mitochondrial encephalomyopathy (MELAS) (3176907)
1988
47
Diagnosis and follow-up of mitochondrial encephalomyopathy: CT and MR studies. (3392284)
1988
48
Biochemical studies in mitochondrial encephalomyopathy. (3681314)
1987
49
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. (3736629)
1986
50
Mitochondrial encephalomyopathy: fluctuating symptoms and CT. (6493493)
1984

Variations for Mitochondrial Encephalomyopathy

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Expression for genes affiliated with Mitochondrial Encephalomyopathy

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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

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Compounds for genes affiliated with Mitochondrial Encephalomyopathy

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Mitochondrial Encephalomyopathy according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1ubiquinone449.5COQ2, MT-ND4
2nad+449.2MT-ND4, AIFM1
3rotenone449.2MT-ND6, MT-ND1, AIFM1
4pyruvate449.1MT-ND1, MT-ND4
5methionine449.1MT-ND6, MT-ND1, AIFM1
6isoleucine449.1MT-ND4, MT-ND6
7Ubiquinol 8248.8MT-ND1, MT-ND6, MT-ND4
8lactate448.8MT-ND4, AIFM1, MT-ND1
9Sulfide248.8MT-ND6, MT-ND1, MT-ND4
10QH2248.8MT-ND4, MT-ND6, MT-ND1
11Ubiquinone Q2248.8MT-ND4, MT-ND1, MT-ND6
12Ubiquinone Q1248.8MT-ND6, MT-ND1, MT-ND4
13valine448.7MT-ND4, MT-ND1, MT-ND6
14nad28 249.7MT-ND4, MT-ND1, MT-ND6
15iron44 249.7MT-ND1, MT-ND6, MT-ND4
16atp44 289.6MT-ND1, MT-ND4, AIFM1
17glucose448.4AIFM1, MT-ND1, MT-ND4
18FAD248.4MT-ND6, MT-ND1, MT-ND4, AIFM1
19nadh44 24 1110.4AIFM1, MT-ND6, MT-ND1, MT-ND4

GO Terms for genes affiliated with Mitochondrial Encephalomyopathy

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet