MCID: MYS022
MIFTS: 22

Myasthenic Syndrome, Fast-Channel Congenital malady

Summaries for Myasthenic Syndrome, Fast-Channel Congenital

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46OMIM, 32MalaCards
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MalaCards: Myasthenic Syndrome, Fast-Channel Congenital is related to congenital myasthenic syndrome and myasthenia gravis. An important gene associated with Myasthenic Syndrome, Fast-Channel Congenital is CHRNE (cholinergic receptor, nicotinic, epsilon (muscle)), and among its related pathways are Translation Insulin regulation of translation and Nanog in Mammalian ESC Pluripotency. The compounds acetylcholine and galantamine have been mentioned in the context of this disorder.

Description from OMIM:46 608930

Aliases & Classifications for Myasthenic Syndrome, Fast-Channel Congenital

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46OMIM
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Aliases & Descriptions:

myasthenic syndrome, fast-channel congenital 46


Related Diseases for Myasthenic Syndrome, Fast-Channel Congenital

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17GeneCards, 18GeneDecks
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Diseases related to Myasthenic Syndrome, Fast-Channel Congenital via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome30.5CHRNA1
2myasthenia gravis10.0CHRNA1
3multiple pterygium syndrome lethal type10.0CHRNA1, CHRND
4slow-channel congenital myasthenic syndrome10.0CHRNA1, CHRND, CHRNE

Clinical Features for Myasthenic Syndrome, Fast-Channel Congenital

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46OMIM
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Clinical features from OMIM:

608930

Clinical synopsis from OMIM:

608930

Drugs & Therapeutics for Myasthenic Syndrome, Fast-Channel Congenital

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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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Search NIH Clinical Center for Myasthenic Syndrome, Fast-Channel Congenital

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Genetic Tests for Myasthenic Syndrome, Fast-Channel Congenital

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Anatomical Context for Myasthenic Syndrome, Fast-Channel Congenital

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Animal Models for Myasthenic Syndrome, Fast-Channel Congenital or affiliated genes

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Publications for Myasthenic Syndrome, Fast-Channel Congenital

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Genetic Variations for Myasthenic Syndrome, Fast-Channel Congenital

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Myasthenic Syndrome, Fast-Channel Congenital:

62
id Symbol AA change Variation ID SNP ID
1CHRNA1p.Phe278ValVAR_021206
2CHRNA1p.Phe301LeuVAR_021208
3CHRNA1p.Val330IleVAR_021209
4CHRNA1p.Val177LeuVAR_038599
5CHRNDp.Glu80LysVAR_021210
6CHRNDp.Pro271GlnVAR_021211
7CHRNEp.Pro141LeuVAR_000289
8CHRNEp.Gly13ArgVAR_021213
9CHRNEp.Ser163LeuVAR_021214
10CHRNEp.Ala431ProVAR_021215

Expression for genes affiliated with Myasthenic Syndrome, Fast-Channel Congenital

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myasthenic Syndrome, Fast-Channel Congenital

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Pathways for genes affiliated with Myasthenic Syndrome, Fast-Channel Congenital

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37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 53Reactome, 29KEGG
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Compounds for genes affiliated with Myasthenic Syndrome, Fast-Channel Congenital

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Myasthenic Syndrome, Fast-Channel Congenital according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine44 49 28 11 2413.1CHRND, CHRNA1
2galantamine44 49 1110.2CHRNE, CHRND, CHRNA1

GO Terms for genes affiliated with Myasthenic Syndrome, Fast-Channel Congenital

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16Gene Ontology
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Cellular components related to Myasthenic Syndrome, Fast-Channel Congenital according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:0300548.5CHRNE, CHRND, CHRNA1
2acetylcholine-gated channel complexGO:0058928.4CHRNE, CHRND, CHRNA1
3postsynaptic membraneGO:0452118.2CHRNE, CHRND, CHRNA1

Biological processes related to Myasthenic Syndrome, Fast-Channel Congenital according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue growthGO:0486309.3CHRND, CHRNA1
2musculoskeletal movementGO:0508819.2CHRNA1, CHRND
3neuromuscular processGO:0509059.2CHRND, CHRNA1
4muscle contractionGO:0069368.7CHRNE, CHRND
5regulation of membrane potentialGO:0423918.7CHRNE, CHRND, CHRNA1
6transportGO:0068108.5CHRNA1, CHRND, CHRNE
7signal transductionGO:0071658.5CHRNE, CHRND, CHRNA1
8synaptic transmissionGO:0072688.4CHRNE, CHRND, CHRNA1

Molecular functions related to Myasthenic Syndrome, Fast-Channel Congenital according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:0154649.3CHRNE, CHRNA1
2acetylcholine bindingGO:0421668.8CHRND, CHRNA1
3acetylcholine-activated cation-selective channel activityGO:0048898.4CHRNE, CHRND, CHRNA1

Products for genes affiliated with Myasthenic Syndrome, Fast-Channel Congenital

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Sources for Myasthenic Syndrome, Fast-Channel Congenital

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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