MCID: MTC004
MIFTS: 35

Mitochondrial Encephalomyopathy malady

Muscle diseases category

Summaries for Mitochondrial Encephalomyopathy

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download 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 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

About this section
Sources:
9Disease Ontology, 63UMLS, 36MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

mitochondrial encephalomyopathy 9
mitochondrial encephalomyopathies 63


External Ids:

Disease Ontology9 DOID:890
MeSH36 D017237

Related Diseases for Mitochondrial Encephalomyopathy

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Mitochondrial Encephalomyopathy

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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:
34MalaCards
See all sources

MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

34
Brain, Skeletal muscle, Heart, Cortex, Skin, Pituitary, Spinal cord, Smooth muscle, Liver, Endothelial

Animal Models for Mitochondrial Encephalomyopathy or affiliated genes

About this section

Publications for Mitochondrial Encephalomyopathy

About this section
Sources:
53PubMed
See all sources

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

About this section

Expression for genes affiliated with Mitochondrial Encephalomyopathy

About this section
Sources:
2BioGPS, 16Gene 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:
51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Mitochondrial Encephalomyopathy

About this section
Sources:
46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank
See all sources

Compounds related to Mitochondrial Encephalomyopathy according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1ubiquinone469.5COQ2, MT-ND4
2nad+469.2MT-ND4, AIFM1
3rotenone469.2AIFM1, MT-ND1, MT-ND6
4pyruvate469.1MT-ND1, MT-ND4
5methionine469.1AIFM1, MT-ND1, MT-ND6
6isoleucine469.1MT-ND6, MT-ND4
7Ubiquinol 8258.8MT-ND6, MT-ND1, MT-ND4
8lactate468.8AIFM1, MT-ND4, MT-ND1
9Sulfide258.8MT-ND6, MT-ND1, MT-ND4
10QH2258.8MT-ND6, MT-ND1, MT-ND4
11Ubiquinone Q2258.8MT-ND4, MT-ND1, MT-ND6
12Ubiquinone Q1258.8MT-ND6, MT-ND1, MT-ND4
13valine468.7MT-ND4, MT-ND1, MT-ND6
14nad30 259.7MT-ND6, MT-ND1, MT-ND4
15iron46 259.7MT-ND6, MT-ND1, MT-ND4
16atp46 309.6AIFM1, MT-ND4, MT-ND1
17glucose468.4MT-ND1, MT-ND4, AIFM1
18FAD258.4MT-ND6, MT-ND1, MT-ND4, AIFM1
19nadh46 25 1210.4AIFM1, MT-ND4, MT-ND1, MT-ND6

GO Terms for genes affiliated with Mitochondrial Encephalomyopathy

About this section

Products for genes affiliated with Mitochondrial Encephalomyopathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Encephalomyopathy

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet