MCID: MYK002
MIFTS: 32

Myokymia malady

Summaries for Myokymia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Myokymia (from the Greek -mŷs - “muscle,” + kŷm, -kŷmia - \"something swollen\" or -kŷmos -... more...

MalaCards: Myokymia is related to episodic ataxia and episodic ataxia type 1. An important gene associated with Myokymia is KCNQ2 (potassium voltage-gated channel, KQT-like subfamily, member 2), and among its related pathways are Interaction between L1 and Ankyrins and Antiarrhythmic Pathway, Pharmacodynamics. The compounds retigabine and α-dendrotoxin have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and nervous system.

Description from OMIM:46 121200

Aliases & Classifications for Myokymia

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46OMIM
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Aliases & Descriptions:

myokymia 46


Related Diseases for Myokymia

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

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1episodic ataxia30.5KCNA6, KCNQ3
2episodic ataxia type 130.1KCNA1, CACNA1A
3neuropathy30.1CACNA1A, KCNA1
4hereditary ataxia30.1CACNA1A, ATXN3
5cerebellar ataxia30.0ATXN3, CACNA1A
6spinocerebellar ataxia29.7CACNA1A, ATXN3
7spinocerebellar ataxia type 329.7CACNA1A, ATXN3
8multiple sclerosis10.3
9myokymia with neonatal epilepsy10.3
10dyskinesia, familial, with facial myokymia10.2
11neuronitis10.1
12isolated facial myokymia10.1
13lateral sclerosis10.0
14nasopharyngitis10.0
15amyotrophic lateral sclerosis10.0
16laryngitis10.0
17motor neuron disease10.0
18polyradiculoneuropathy10.0
19thymoma10.0
20myokymia 1 with or without hypomagnesemia10.0
21dentatorubral-pallidoluysian atrophy10.0ATXN3
22benign neonatal seizures10.0KCNQ3, KCNQ2
23spinocerebellar ataxia type 610.0CACNA1A, KCNA1
24idiopathic generalized epilepsy10.0KCNQ2, KCNQ3
25benign familial neonatal-infantile seizures10.0KCNQ2, KCNQ3, KCNA1
26frontal lobe epilepsy10.0KCNA1, KCNQ2, KCNQ3
27spinocerebellar degeneration10.0CACNA1A, ATXN3
28febrile seizures10.0KCNQ3, KCNQ2, KCNA1
29olivopontocerebellar atrophy10.0ATXN3, CACNA1A
30spinocerebellar ataxia type 1210.0CACNA1A, ATXN3
31spinocerebellar ataxia type 1710.0CACNA1A, ATXN3
32prion disease10.0KCNQ3, KCNQ2
33friedreich ataxia10.0ATXN3, CACNA1A
34long qt syndrome10.0KCND3, KCNQ2, KCNQ3, KCNA5
35epilepsy syndrome10.0KCNA1, CACNA1A, KCNQ2, KCNQ3
36arteriovenous fistula9.9
37eosinophilia-myalgia syndrome9.9
38bell's palsy9.9
39arachnoiditis9.9
40retinitis pigmentosa9.9
41spinal stenosis9.9
42motor peripheral neuropathy9.9
43hypoglycemia9.9
44hepatitis b9.9
45chronic inflammatory demyelinating polyradiculoneuropathy9.9
46obstructive hydrocephalus9.9
47mucoepidermoid carcinoma9.9
48brain glioma9.9
49brain stem glioma9.9
50cervicitis9.9

Graphical network of the top 20 diseases related to Myokymia:



Diseases related to myokymia

Clinical Features for Myokymia

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46OMIM
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Clinical features from OMIM:

121200

Drugs & Therapeutics for Myokymia

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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 Myokymia

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Anatomical Context for Myokymia

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Animal Models for Myokymia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Myokymia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.7ADCY5, CACNA1A, KCNA6, KCNA1, KCNQ3, KCNA5
2MP:00036317.5KCNA5, KCNQ3, KCNQ2, KCNA1, CACNA1A, ATXN3
3MP:00053867.2ADCY5, KCNQ3, KCNQ2, KCNA1, KCNA6, CACNA1A

Publications for Myokymia

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Genetic Variations for Myokymia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Myokymia:

62
id Symbol AA change Variation ID SNP ID
1KCNQ2p.Arg214TrpVAR_010929rs28939684
2KCNQ2p.Tyr284CysVAR_010930rs28939683
3KCNQ2p.Ala306ThrVAR_010931
4KCNQ2p.Arg207TrpVAR_026987
5KCNQ2p.Met208ValVAR_026988
6KCNQ2p.His228GlnVAR_026989
7KCNQ2p.Leu243PheVAR_026990
8KCNQ2p.Arg333GlnVAR_026992
9KCNQ2p.Lys554AsnVAR_026993

Expression for genes affiliated with Myokymia

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

Search GEO for disease gene expression data for Myokymia.

Pathways for genes affiliated with Myokymia

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53Reactome, 49PharmGKB, 12EMD Millipore, 29KEGG, 51QIAGEN
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Compounds for genes affiliated with Myokymia

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience
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Compounds related to Myokymia according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1retigabine44 2810.9KCNQ2, KCNQ3
2α-dendrotoxin289.8KCNA1, KCNA6
3linopirdine44 2810.8KCNQ2, KCNQ3
4meclofenamic acid44 1110.8KCNQ3, KCNQ2
5Ezogabine 119.7KCNQ2, KCNQ3
6pip2289.7KCNQ2, KCNQ3
7diclofenac44 28 49 1112.5KCNQ3, KCNQ2
8Dalfampridine 119.5KCNA1, KCND3
9amitriptyline44 49 28 1112.2KCNA1, KCNQ2, KCND3
10tetraethylammonium44 28 1111.0KCNQ3, KCNQ2, KCNA1, KCNA6
11acetylcholine44 49 28 11 2413.0CACNA1A, KCNQ2, KCNQ3
12sodium44 2410.0CACNA1A, KCNQ2, KCNQ3
134-aminopyridine44 289.9CACNA1A, KCNA5, KCND3
14shk-dap22597.9KCNA6, KCNA1, KCNQ2, KCNQ3, KCNA5, KCND3
15xe 991 dihydrochloride597.9KCND3, KCNA5, KCNQ3, KCNQ2, KCNA6, KCNA1
16e-4031 dihydrochloride597.9KCNA6, KCNA1, KCNQ2, KCNQ3, KCNA5, KCND3
17jnj 303597.8KCNA6, KCNA1, KCNQ2, KCNQ3, KCNA5, KCND3
18ica 110381597.8KCNA6, KCNA1, KCNQ2, KCNQ3, KCNA5, KCND3
19calcium44 49 11 2410.6ADCY5, CACNA1A, KCNA1, KCNA5, KCND3
20potassium44 11 249.2KCND3, KCNA5, KCNQ3, KCNQ2, KCNA1, KCNA6

GO Terms for genes affiliated with Myokymia

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

idNameGO IDScoreTop Affiliating Genes
1axon initial segmentGO:0431949.6KCNQ2, KCNQ3
2node of RanvierGO:0332689.5KCNQ2, KCNQ3
3neuronal cell bodyGO:0430258.7CACNA1A, KCNA1, KCND3
4dendriteGO:0304258.4KCNA1, CACNA1A, KCND3
5voltage-gated potassium channel complexGO:0080767.6KCNA5, KCND3, KCNQ3, KCNQ2, KCNA1, KCNA6
6plasma membraneGO:0058866.6ADCY5, KCND3, KCNA5, KCNQ3, KCNQ2, KCNA1

Biological processes related to Myokymia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1membrane hyperpolarizationGO:0600819.4KCNQ3, KCNA5
2regulation of insulin secretionGO:0507969.4KCNA5, CACNA1A
3potassium ion exportGO:0714359.2KCNA5, KCND3
4neuromuscular process controlling balanceGO:0508859.2ADCY5, CACNA1A
5protein homooligomerizationGO:0512608.4KCNA1, KCNA5, KCND3, KCNA6
6potassium ion transportGO:0068137.6KCNA6, KCND3, KCNA5, KCNQ3, KCNQ2, KCNA1
7synaptic transmissionGO:0072686.2KCNA5, CACNA1A, ATXN3, ADCY5, KCNA1, KCNQ2

Molecular functions related to Myokymia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel activityGO:0052499.1KCNQ3, KCNQ2, KCNA6
2potassium channel activityGO:0052679.0KCNQ2, KCNA1, KCNQ3
3delayed rectifier potassium channel activityGO:0052517.4KCNQ3, KCNA6, KCNA1, KCNQ2, KCND3, KCNA5

Products for genes affiliated with Myokymia

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Sources for Myokymia

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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