MCID: ENC011
MIFTS: 41

Encephalomyopathy malady

Summaries for Encephalomyopathy

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64Wikipedia, 33MalaCards
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Wikipedia:64 Encephalopathy /ɛnˌsɛfəˈlɒpəθi/ means disorder or disease of the brain. In modern usage,... more...

MalaCards: Encephalomyopathy, also known as mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive, is related to melas syndrome and kearns-sayre syndrome. An important gene associated with Encephalomyopathy is COQ2 (coenzyme Q2 4-hydroxybenzoate polyprenyltransferase), and among its related pathways are Cardiac muscle contraction and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds N-Formylmethionine and solium have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and spinal cord.

Aliases & Classifications for Encephalomyopathy

Sources:
43NIH Rare Diseases
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Aliases & Descriptions:

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


Related Diseases for Encephalomyopathy

Sources:
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 80)
idRelated DiseaseScoreTop Affiliating Genes
1melas syndrome30.7MT-TL1, MT-ND5
2kearns-sayre syndrome30.3COX5A, CPOX
3mitochondrial disorders30.3COX5A, MT-ATP6, CPOX
4mitochondrial complex i deficiency30.0MT-ND6, NDUFV1, NDUFA1, MT-ND5
5leigh disease29.8MT-ND5, MT-ATP6, NDUFV1
6parkinson's disease29.8MT-ND1, MT-ND5, GHRH, COX5A, AIFM1
7mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.4
8n syndrome10.3
9mitochondrial cardiomyopathy10.3
10say syndrome10.2
11fatal infantile encephalomyopathy10.2
12combined oxidative phosphorylation deficiency 610.1
13myoclonus10.1
14hypoparathyroidism10.0
15hypertrophic cardiomyopathy10.0
16cerebellar degeneration10.0
17ataxia10.0
18sleep apnea10.0
19fastkd2-related infantile mitochondrial encephalomyopathy10.0
20ramsay-hunt syndrome10.0
21neuropathy10.0MSTN
22leukodystrophy10.0TYMP
23multiple sclerosis10.0COX5A
24myopathy10.0COX5A, MSTN, CPOX
25ophthalmoplegia10.0TYMP
26diabetes mellitus10.0MT-ND1
27chronic progressive external ophthalmoplegia10.0TYMP
28merrf syndrome10.0COX5A, CPOX, MT-TK, MT-ND5
29leber hereditary optic neuropathy10.0NDUFA1, MT-ND6, MT-ND1, MT-ND4, MT-ND5
30optic nerve disease10.0MT-ND4, NDUFA1, MT-ND6
31opa3-related 3-methylglutaconic aciduria10.0MT-ND4
32alzheimer's disease10.0AIFM1, COX5A
33mitochondrial dna-associated leigh syndrome and narp10.0MT-TK, MT-TL1, MT-ND5, MT-ND6, MT-ATP6, MT-ND1
34lactic acidosis10.0MT-ND5, MT-ND1, MT-ND4, GHRH, COX5A, CPOX
35leber hereditary optic neuropathy with dystonia10.0MT-ND4, MT-ND6
36glioblastoma multiforme10.0AIFM1, TYMP, GHRH
37cytochrome-c oxidase deficiency disease10.0COX6B1, COX5A
38brain disease10.0COX5A, CPOX, MT-ND5
39colorectal cancer10.0COX5A, TYMP
40early myoclonic encephalopathy10.0COX5A, MT-ND5
41breast cancer10.0GHRH, AIFM1, TYMP, CPOX, COX5A
42noonan syndrome10.0COX5A, MT-ND1, MT-ATP6
43obesity10.0MSTN, GHRH
44atrioventricular block9.9
45pearson syndrome9.9
46focal segmental glomerulosclerosis9.9
47alpers syndrome9.9
48cystic fibrosis9.9
49sensorineural hearing loss9.9
50myoclonic cerebellar dyssynergia9.9

Graphical network of the top 20 diseases related to Encephalomyopathy:



Diseases related to encephalomyopathy

Clinical Features for Encephalomyopathy

Drugs & Therapeutics for Encephalomyopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Encephalomyopathy

Drug clinical trials:

Search ClinicalTrials for Encephalomyopathy

Search NIH Clinical Center for Encephalomyopathy

Search CenterWatch for Encephalomyopathy

Genetic Tests for Encephalomyopathy

Anatomical Context for Encephalomyopathy

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33MalaCards
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MalaCards organs/tissues related to Encephalomyopathy:

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

Animal Models for Encephalomyopathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Encephalomyopathy

Sources:
51PubMed
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Articles related to Encephalomyopathy:

(show top 50)    (show all 334)
idTitleAuthorsYear
1
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. (24199812)
2013
2
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. (22711161)
2012
3
Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (21483760)
2011
4
Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss. (20546644)
2010
5
A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy. (19744136)
2010
6
Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy. (19368660)
2009
7
Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa. (19339372)
2009
8
Friedrich Nietzsche (1844-1900): a classical case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome? (19723969)
2009
9
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. (18499082)
2008
10
Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy. (18504126)
2008
11
Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions. (18332256)
2008
12
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. (18771761)
2008
13
Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency. (18058625)
2007
14
Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (17077575)
2006
15
Excessive fragmentary hypnic myoclonus in a patient affected by a mitochondrial encephalomyopathy. (17097919)
2006
16
Abdominal pain related to mitochondrial neurogastrointestinal encephalomyopathy syndrome may benefit from splanchnic nerve blockade. (16972839)
2006
17
Mitochondrial encephalomyopathy in Drosophila. (16421301)
2006
18
Evaluation of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with magnetic resonance imaging and proton magnetic resonance spectroscopy. (17249198)
2006
19
Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene. (16344351)
2005
20
Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (15878850)
2005
21
Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. (14673554)
2004
22
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. (14720311)
2004
23
Discordance between cerebral oxygen and glucose metabolism, and hemodynamics in a mitochondrial encephalomyopathy, lactic acidosis, and strokelike episode patient. (11462305)
2001
24
Peroxide production and apoptosis in cultured cells carrying mtDNA mutation causing encephalomyopathy. (9784841)
1998
25
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
26
Periodic lateralized epileptiform discharges in mitochondrial encephalomyopathy. (9305284)
1997
27
A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy. (8769114)
1996
28
Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. (7783765)
1995
29
Further evidence for multitopological localization of mammalian porin (VDAC) in the plasmalemma forming part of a chloride channel complex affected in cystic fibrosis and encephalomyopathy. (8581362)
1995
30
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. (7726155)
1995
31
Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy. (8064325)
1994
32
Mitochondrial encephalomyopathy: correlation of P-31 exercise MR spectroscopy with clinical findings. (8208943)
1994
33
A new point mutation associated with mitochondrial encephalomyopathy. (8111377)
1993
34
An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extra-neuromuscular abnormalities. (1471529)
1992
35
Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study. (1575024)
1992
36
Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy. (1487239)
1992
37
Purpuric cutaneous manifestations in mitochondrial encephalomyopathy. (1939857)
1991
38
Mitochondrial encephalomyopathy presenting with clinical Leigh's disease: report of a case. (1848464)
1991
39
MR demonstration of leukoencephalopathy associated with mitochondrial encephalomyopathy: case report. (1902049)
1991
40
Mitochondrial encephalomyopathy (MELAS) with mental disorder. CT, MRI and SPECT findings. (2333139)
1990
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
Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency. (2540284)
1989
44
Pleiotropic molecular defects in energy-transducing complexes in mitochondrial encephalomyopathy (MELAS). (2809615)
1989
45
An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain. (2844999)
1988
46
Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. (3407400)
1988
47
Mitochondrial encephalomyopathy, ataxia, and sleep apnea. (3614675)
1987
48
Variation in the levels of complex I subunits among tissues in a patient with mitochondrial encephalomyopathy and renal dysfunction. (3134026)
1987
49
Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions. (6537855)
1984
50
HEREDITARY ENCEPHALOMYOPATHY. A HYDROCEPHALUS SYNDROME IN NEWBORN CALVES. (14140876)
1964

Genetic Variations for Encephalomyopathy

Expression for genes affiliated with Encephalomyopathy

Sources:
1BioGPS, 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

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Encephalomyopathy

Sources:
11DrugBank, 45Novoseek, 50PharmGKB, 29IUPHAR, 24HMDB
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Compounds related to Encephalomyopathy according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1N-Formylmethionine1110.7MT-ND1, COX5A, MT-CO2, COX6B1
2solium4510.7MT-ATP6, MT-ND1
3rofecoxib45 50 29 1113.7COX5A, CPOX, MT-CO2
4rotenone4510.7MT-ND6, AIFM1, MT-ND1
5prostaglandin4510.6MT-CO2, AIFM1, CPOX, TYMP, COX5A
6nad29 2411.6MT-ND4, NDUFV1, NDUFA1, MT-ND5, MT-ND6, MT-ND1
7copper45 2411.6COX5A, MT-CO2, AIFM1, CPOX
8glucose4510.6GHRH, AIFM1, TYMP, MSTN, CPOX
9valine4510.6MT-ND6, MT-ND1, MT-ND4, MT-ND5
10cholic acid45 29 11 2413.6MT-CO2, COX6B1, COX5A
11thromboxane45 2411.6COX5A, TYMP, CPOX
12lactate4510.6CPOX, MT-ND4, MT-ND1, MT-CO2, COX5A, AIFM1
13iron45 2411.6MT-ND4, MT-ND1, MT-ND6, NDUFA1, COX5A, CPOX
14succinate4510.6CPOX, MT-ND4, COX5A
15thromboxane a245 2411.5TYMP, CPOX, COX5A
16oxygen45 2411.5COX6B1, CPOX, MSTN, TYMP, AIFM1, MT-CO2
17atp45 2911.5MT-CO2, CPOX, COX5A, MT-ATP6, MT-ND1, MT-ND4
18methionine4510.5MT-ND5, MT-ND6, AIFM1, MT-ND1
19zidovudine45 1111.5COX5A, MT-CO2, TYMP
20nadh45 11 2412.5COX5A, NDUFA1, MT-ND6, MT-CO2, NDUFV1, CPOX
21meloxicam45 1111.5COX5A, CPOX
22citrate4510.4COX5A, MT-CO2, CPOX
23didanosine45 1111.3COX5A, MT-CO2
24serine4510.3MT-ND6, MT-ND5, AIFM1, TYMP, MT-ND1, COX5A
25naproxen45 11 2412.1COX5A, CPOX

GO Terms for genes affiliated with Encephalomyopathy

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00573910.3COQ2, COX6B1, NDUFA1, FASTKD2, AIFM1, CPOX
2mitochondrial inner membraneGO:00574310.2NDUFA1, COQ2, COX6B1, COX5A, CPOX, AIFM1
3mitochondrial intermembrane spaceGO:00575810.1AIFM1, CPOX, COX6B1

Biological processes related to Encephalomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:04428110.3CPOX, TYMP, NDUFA1, NDUFV1, COX5A, COX6B1
2respiratory electron transport chainGO:02290410.2NDUFA1, NDUFV1, COX5A, COX6B1
3cellular metabolic processGO:04423710.0COX6B1, COX5A, NDUFV1, NDUFA1

Products for genes affiliated with Encephalomyopathy

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  • Lysates
  • Antibodies

Sources for Encephalomyopathy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet