MCID: MTC004
MIFTS: 35

Mitochondrial Encephalomyopathy malady

Muscle diseases category
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Summaries for Mitochondrial Encephalomyopathy

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33MalaCards
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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 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 heart.

Aliases & Classifications for Mitochondrial Encephalomyopathy

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8Disease Ontology, 62UMLS, 35MeSH
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Classifications:

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


Aliases & Descriptions:

mitochondrial encephalomyopathy 8
mitochondrial encephalomyopathies 62


External Ids:

Disease Ontology8 DOID:890
MeSH35 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 55)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis31.4MT-ND1, MT-ND4
2melas syndrome30.8MT-ND6, MT-ND1, MT-ND4
3mitochondrial disorders30.5MT-ND4, MT-ND1, MT-TL1, MT-ND6, MT-TK
4parkinson's disease30.4MT-ND1, AIFM1
5encephalomyopathy11.3
6mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.9
7cerebritis10.5
8kearns-sayre syndrome10.5
9diabetes mellitus10.3
10combined oxidative phosphorylation deficiency 610.3
11myoclonus10.3
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
21atrioventricular block10.1
22focal segmental glomerulosclerosis10.1
23pearson syndrome10.1
24primary open angle glaucoma10.1
25fanconi syndrome10.1
26hypertrophic cardiomyopathy10.1
27mutism10.1
28sensorineural hearing loss10.1
29amenorrhea10.1
30vitiligo10.1
31cataract10.1
32dementia10.1
33encephalitis10.1
34glaucoma10.1
35glomerulosclerosis10.1
36herpes simplex10.1
37intestinal obstruction10.1
38leukodystrophy10.1
39myotonic dystrophy10.1
40open-angle glaucoma10.1
41growth hormone deficiency10.1
42herpes simplex encephalitis10.1
43mental retardation10.1
44mitochondrial cardiomyopathy10.1
45ataxia10.1
46septic shock10.1
47mitochondrial dna depletion syndrome 510.1
48ileus10.1
49fibromyalgia10.1
50endotheliitis10.1

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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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

33
Brain, Skeletal muscle, Heart, Cortex, 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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52PubMed
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Articles related to Mitochondrial Encephalomyopathy:

(show top 50)    (show all 230)
idTitleAuthorsYear
1
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (23993194)
2013
2
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. (23836383)
2013
3
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
4
Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (21076841)
2011
5
A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome. (22611618)
2011
6
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (20362274)
2010
7
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. (19589463)
2009
8
Identification of novel mutations in five patients with mitochondrial encephalomyopathy. (18977334)
2009
9
Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (17204916)
2006
10
Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. (14673554)
2004
11
Anaesthesia for an adolescent with mitochondrial encephalomyopathy-lactic acidosis-stroke-like episodes syndrome. (12791122)
2003
12
Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. (11913571)
2002
13
An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure. (11506313)
2001
14
Ultrastructural study of mother and daughter muscle changes with mitochondrial encephalomyopathy. (11928899)
2001
15
Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies. (11312605)
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
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
44
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy. (2501579)
1989
45
Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency. (2540284)
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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2BioGPS, 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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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Mitochondrial Encephalomyopathy

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45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Mitochondrial Encephalomyopathy according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1ubiquinone459.5COQ2, MT-ND4
2nad+459.2MT-ND4, AIFM1
3rotenone459.2AIFM1, MT-ND1, MT-ND6
4pyruvate459.1MT-ND1, MT-ND4
5methionine459.1AIFM1, MT-ND1, MT-ND6
6isoleucine459.1MT-ND6, MT-ND4
7Ubiquinol 8248.8MT-ND6, MT-ND1, MT-ND4
8lactate458.8AIFM1, MT-ND4, MT-ND1
9Sulfide248.8MT-ND6, MT-ND1, MT-ND4
10QH2248.8MT-ND6, MT-ND1, MT-ND4
11Ubiquinone Q2248.8MT-ND4, MT-ND1, MT-ND6
12Ubiquinone Q1248.8MT-ND6, MT-ND1, MT-ND4
13valine458.7MT-ND4, MT-ND1, MT-ND6
14nad29 249.7MT-ND6, MT-ND1, MT-ND4
15iron45 249.7MT-ND6, MT-ND1, MT-ND4
16atp45 299.6AIFM1, MT-ND4, MT-ND1
17glucose458.4MT-ND1, MT-ND4, AIFM1
18FAD248.4MT-ND6, MT-ND1, MT-ND4, AIFM1
19nadh45 24 1110.4AIFM1, MT-ND4, MT-ND1, MT-ND6

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet