MCID: ENC011
MIFTS: 29

Encephalomyopathy malady

Summaries for Encephalomyopathy

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 lactic acidosis and melas 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.

Aliases & Classifications for Encephalomyopathy

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42NIH Rare Diseases
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Aliases & Descriptions:

encephalomyopathy 42
mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive 42
mitochondrial encephalomyopathy aminoacidopathy 42


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 82)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis31.1MT-ND5, MT-ND1, MT-ND4, GHRH, COX5A, CPOX
2melas syndrome30.6MT-TL1, MT-ND5
3mitochondrial disorders30.5COX5A, MT-ATP6, CPOX
4kearns-sayre syndrome30.3COX5A, CPOX
5myopathy30.2COX5A, MSTN, CPOX
6diabetes mellitus30.2MT-ND1
7ophthalmoplegia30.1TYMP
8parkinson's disease30.0MT-ND1, MT-ND5, GHRH, COX5A, AIFM1
9neuropathy29.8MSTN
10leukodystrophy29.8TYMP
11mitochondrial encephalomyopathy11.1
12mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.4
13cerebritis10.3
14fatal infantile encephalomyopathy10.1
15combined oxidative phosphorylation deficiency 610.1
16choroiditis10.0
17hypoparathyroidism10.0
18hypertrophic cardiomyopathy10.0
19hypogonadism10.0
20intestinal obstruction10.0
21muscular dystrophy10.0
22optic atrophy10.0
23pancreatitis10.0
24fastkd2-related infantile mitochondrial encephalomyopathy10.0
25multiple sclerosis10.0COX5A
26chronic progressive external ophthalmoplegia10.0TYMP
27leigh disease10.0MT-ND5, MT-ATP6, NDUFV1
28mitochondrial complex i deficiency10.0MT-ND6, NDUFV1, NDUFA1, MT-ND5
29merrf syndrome10.0COX5A, CPOX, MT-TK, MT-ND5
30leber hereditary optic neuropathy10.0NDUFA1, MT-ND6, MT-ND1, MT-ND4, MT-ND5
31optic nerve disease10.0MT-ND4, NDUFA1, MT-ND6
32opa3-related 3-methylglutaconic aciduria10.0MT-ND4
33alzheimer's disease10.0AIFM1, COX5A
34mitochondrial dna-associated leigh syndrome and narp10.0MT-TK, MT-TL1, MT-ND5, MT-ND6, MT-ATP6, MT-ND1
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
49multiple symmetrical lipomatosis9.9
50sensorineural hearing loss9.9

Graphical network of the top 20 diseases related to Encephalomyopathy:



Diseases related to encephalomyopathy

Clinical Features for Encephalomyopathy

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Drugs & Therapeutics for Encephalomyopathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Encephalomyopathy

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Anatomical Context for Encephalomyopathy

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32MalaCards
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MalaCards organs/tissues related to Encephalomyopathy:

32
Brain

Animal Models for Encephalomyopathy or affiliated genes

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Publications for Encephalomyopathy

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Genetic Variations for Encephalomyopathy

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Expression for genes affiliated with Encephalomyopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Encephalomyopathy

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Pathways for genes affiliated with Encephalomyopathy

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29KEGG, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Encephalomyopathy

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11DrugBank, 44Novoseek, 49PharmGKB, 28IUPHAR, 24HMDB
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Compounds related to Encephalomyopathy according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1N-Formylmethionine1110.7COX6B1, COX5A, MT-CO2, MT-ND1
2solium4410.7MT-ND1, MT-ATP6
3rofecoxib44 49 28 1113.7CPOX, MT-CO2, COX5A
4rotenone4410.7AIFM1, MT-ND1, MT-ND6
5prostaglandin4410.6COX5A, MT-CO2, AIFM1, TYMP, CPOX
6nad28 2411.6NDUFV1, NDUFA1, MT-ND6, MT-ND1, MT-ND4, MT-ND5
7copper44 2411.6COX5A, MT-CO2, AIFM1, CPOX
8glucose4410.6GHRH, AIFM1, TYMP, MSTN, CPOX
9valine4410.6MT-ND6, MT-ND1, MT-ND4, MT-ND5
10cholic acid44 28 11 2413.6MT-CO2, COX5A, COX6B1
11thromboxane44 2411.6COX5A, TYMP, CPOX
12lactate4410.6COX5A, MT-CO2, MT-ND1, MT-ND4, AIFM1, CPOX
13iron44 2411.6COX5A, NDUFV1, NDUFA1, MT-ND6, MT-ND1, MT-ND4
14succinate4410.6CPOX, MT-ND4, COX5A
15thromboxane a244 2411.5CPOX, TYMP, COX5A
16oxygen44 2411.5COX6B1, COX5A, MT-ND6, MT-CO2, MT-ATP6, AIFM1
17atp44 2811.5COX5A, MT-CO2, MT-ATP6, MT-ND1, MT-ND4, MT-ND5
18methionine4410.5MT-ND6, MT-ND1, MT-ND5, AIFM1
19zidovudine44 1111.5TYMP, MT-CO2, COX5A
20nadh44 11 2412.5CPOX, COX5A, NDUFV1, NDUFA1, MT-ND6, MT-CO2
21meloxicam44 1111.5COX5A, CPOX
22citrate4410.4CPOX, MT-CO2, COX5A
23didanosine44 1111.3MT-CO2, COX5A
24serine4410.3COX5A, GHRH, MT-ND6, MT-ND1, MT-ND5, AIFM1
25naproxen44 11 2412.1COX5A, CPOX

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
1mitochondrionGO:00573910.3CPOX, AIFM1, FASTKD2, NDUFA1, COX6B1, COQ2
2mitochondrial inner membraneGO:00574310.2CPOX, AIFM1, NDUFA1, NDUFV1, COX5A, COX6B1
3mitochondrial intermembrane spaceGO:00575810.1COX6B1, AIFM1, CPOX

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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  • Antibodies
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Sources for 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet