MCID: ENC011
MIFTS: 38

Encephalomyopathy malady

Rare diseases category
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Summaries for Encephalomyopathy

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65Wikipedia, 33MalaCards
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Wikipedia:65 Encephalopathy /?n?s?f??l?p??i/ is a nonspecific . In modern usage, encephalopathy does not refer to a... more...

MalaCards: Encephalomyopathy, also known as mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive, is related to melas syndrome and mitochondrial disorders. An important gene associated with Encephalomyopathy is COQ2 (coenzyme Q2 4-hydroxybenzoate polyprenyltransferase), and among its related pathways are Apoptosis and Autophagy and tRNA Aminoacylation. The compounds ubiquinone and rotenone have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and cortex.

Aliases & Classifications for Encephalomyopathy

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43NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

encephalomyopathy 43
mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive 43
mitochondrial encephalomyopathy aminoacidopathy 43


Related Diseases for Encephalomyopathy

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

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1melas syndrome30.6MT-ND4, MT-ND6
2mitochondrial disorders30.3MT-TL1, MT-ND6, MT-ND4, MT-TK
3mitochondrial encephalomyopathy11.1
4lactic acidosis10.8
5mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.7
6cerebritis10.3
7kearns-sayre syndrome10.2
8diabetes mellitus10.2
9myopathy10.2
10ophthalmoplegia10.1
11fatal infantile encephalomyopathy10.1
12combined oxidative phosphorylation deficiency 610.1
13myoclonus10.1
14chronic progressive external ophthalmoplegia10.1TYMP
15hypertrophic cardiomyopathy10.0
16choroiditis10.0
17hypoparathyroidism10.0
18parkinson's disease10.0
19hypogonadism10.0
20muscular dystrophy10.0
21optic atrophy10.0
22pancreatitis10.0
23sleep apnea10.0
24aminoacidopathies10.0
25ataxia10.0
26fastkd2-related infantile mitochondrial encephalomyopathy10.0
27ramsay-hunt syndrome10.0
28leber hereditary optic neuropathy with dystonia10.0MT-ND6, MT-ND4
29optic nerve disease10.0MT-ND4, MT-ND6
30leigh disease10.0MT-ND6, MT-ND4
31leber hereditary optic neuropathy9.9MT-ND4, MT-ND6
32atrioventricular block9.9
33cystic fibrosis9.9
34focal segmental glomerulosclerosis9.9
35pearson syndrome9.9
36primary open angle glaucoma9.9
37fanconi syndrome9.9
38mutism9.9
39anorexia nervosa9.9
40chronic inflammatory demyelinating polyradiculoneuropathy9.9
41multiple symmetrical lipomatosis9.9
42sensorineural hearing loss9.9
43amenorrhea9.9
44vitiligo9.9
45trigeminal neuralgia9.9
46multiple symmetric lipomatosis9.9
47cataract9.9
48chorioretinitis9.9
49dementia9.9
50diverticulitis9.9

Graphical network of the top 20 diseases related to Encephalomyopathy:



Diseases related to encephalomyopathy

Symptoms for Encephalomyopathy

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Drugs & Therapeutics for Encephalomyopathy

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Encephalomyopathy

Search NIH Clinical Center for Encephalomyopathy

Genetic Tests for Encephalomyopathy

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Anatomical Context for Encephalomyopathy

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33MalaCards
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MalaCards organs/tissues related to Encephalomyopathy:

33
Brain, Skeletal muscle, Cortex, Heart, Pituitary, Smooth muscle, Skin, Eye, Spinal cord, Endothelial, Small intestine, Liver

Animal Models for Encephalomyopathy or affiliated genes

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Publications for Encephalomyopathy

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52PubMed
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Articles related to Encephalomyopathy:

(show top 50)    (show all 353)
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
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. (24199812)
2013
5
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. (21933806)
2011
6
Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (21483760)
2011
7
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (20362274)
2010
8
Multiple cranial nerve enhancement in mitochondrial neurogastrointestinal encephalomyopathy. (20351514)
2010
9
Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy. (19368660)
2009
10
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. (19589463)
2009
11
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy. (19616983)
2009
12
Identification of novel mutations in five patients with mitochondrial encephalomyopathy. (18977334)
2009
13
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. (17301081)
2007
14
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. (17437622)
2007
15
Thymidine phosphorylase gene mutation is not a primary cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (16679698)
2006
16
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy. (16774911)
2006
17
Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (17077575)
2006
18
Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (17204916)
2006
19
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. (12825077)
2003
20
Anaesthesia for an adolescent with mitochondrial encephalomyopathy-lactic acidosis-stroke-like episodes syndrome. (12791122)
2003
21
Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. (11913571)
2002
22
An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure. (11506313)
2001
23
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. (11047755)
2000
24
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. (10852545)
2000
25
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
26
Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy. (9678517)
1998
27
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
28
Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. (9435428)
1998
29
Mitochondrial encephalomyopathy with 15915 mutation: clinical report. (9367299)
1997
30
Benign mitochondrial encephalomyopathy in a patient with complex I deficiency. (8739952)
1996
31
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
32
Early-onset fatal encephalomyopathy associated with severe mtDNA depletion. (7556323)
1995
33
Superoxide dismutases of muscle in mitochondrial encephalomyopathies. (7565923)
1995
34
Home mechanical ventilation in mitochondrial encephalomyopathy syndrome. (7487448)
1995
35
Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. (7496082)
1995
36
Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. (7783765)
1995
37
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
38
Free radical, lipid peroxide and antioxidant in mitochondrial encephalomyopathy]. (7955720)
1994
39
An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extra-neuromuscular abnormalities. (1471529)
1992
40
Purpuric cutaneous manifestations in mitochondrial encephalomyopathy. (1939857)
1991
41
An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. (1792871)
1991
42
HMPAO-SPECT imaging resembling Alzheimer-type dementia in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). (2213201)
1990
43
Mitochondrial encephalomyopathy with pilovacuolar inclusion or phenocopy with mitochondrial artefact? (2795106)
1989
44
Non-epileptic myoclonus and mitochondrial encephalomyopathy. (2619613)
1989
45
Hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases. (2537772)
1989
46
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
47
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy. (2501579)
1989
48
Involvement of choroid plexus in mitochondrial encephalomyopathy (MELAS) (3176907)
1988
49
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. (3736629)
1986
50
Mitochondrial encephalomyopathy: fluctuating symptoms and CT. (6493493)
1984

Variations for Encephalomyopathy

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Expression for genes affiliated with Encephalomyopathy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Encephalomyopathy

Search GEO for disease gene expression data for Encephalomyopathy.

Pathways for genes affiliated with Encephalomyopathy

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50PathCards, 5Cell Signaling Technology, 55Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Encephalomyopathy

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

(show all 14)
idCompoundScoreTop Affiliating Genes
1ubiquinone459.8COQ2, MT-ND4
2rotenone459.5MT-ND6, AIFM1
3nad+459.5MT-ND4, AIFM1
4Ubiquinol 8249.4MT-ND6, MT-ND4
5prostaglandin459.4TYMP, AIFM1
6Sulfide249.3MT-ND4, MT-ND6
7QH2249.3MT-ND6, MT-ND4
8Ubiquinone Q2249.2MT-ND6, MT-ND4
9Ubiquinone Q1249.2MT-ND4, MT-ND6
10isoleucine459.1MT-ND4, MT-ND6
11valine459.1MT-ND6, MT-ND4
12FAD249.0MT-ND6, MT-ND4, AIFM1
13nadh45 24 1111.0AIFM1, MT-ND4, MT-ND6
14oxygen45 249.7AIFM1, TYMP, MT-ND6, COX6B1

GO Terms for genes affiliated with Encephalomyopathy

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16Gene Ontology
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Cellular components related to Encephalomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:0057589.6COX6B1, AIFM1
2mitochondrial inner membraneGO:0057439.0COX6B1, COQ2, AIFM1

Products for genes affiliated with Encephalomyopathy

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Sources for 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