MCID: MYS022
MIFTS: 17

Myasthenic Syndrome, Fast-Channel Congenital malady

Summaries for Myasthenic Syndrome, Fast-Channel Congenital

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47OMIM, 33MalaCards
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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 Class A/1 (Rhodopsin-like receptors). The compounds acetylcholine and galantamine have been mentioned in the context of this disorder.

Description from OMIM:47 608930

Aliases & Classifications for Myasthenic Syndrome, Fast-Channel Congenital

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47OMIM
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Aliases & Descriptions:

myasthenic syndrome, fast-channel congenital 47


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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47OMIM
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Clinical features from OMIM:

608930

Clinical synopsis from OMIM:

608930

Drugs & Therapeutics for Myasthenic Syndrome, Fast-Channel Congenital

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

Search CenterWatch for Myasthenic Syndrome, Fast-Channel Congenital

Drug clinical trials:

Search ClinicalTrials for Myasthenic Syndrome, Fast-Channel Congenital

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

Search CenterWatch for Myasthenic Syndrome, Fast-Channel Congenital

Genetic Tests for Myasthenic Syndrome, Fast-Channel Congenital

Anatomical Context for Myasthenic Syndrome, Fast-Channel Congenital

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

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28inGenious Targeting Laboratory
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Publications for Myasthenic Syndrome, Fast-Channel Congenital

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51PubMed
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Articles related to Myasthenic Syndrome, Fast-Channel Congenital:

idTitleAuthorsYear
1
Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the I+-I/ subunit interface. (24295813)
2013
2
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. (15079006)
2004
3
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. (12499478)
2002
4
Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel. (7685992)
1993

Genetic Variations for Myasthenic Syndrome, Fast-Channel Congenital

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Myasthenic Syndrome, Fast-Channel Congenital:

63
id Symbol AA change Variation 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

Search GEO for disease gene expression data for Myasthenic Syndrome, Fast-Channel Congenital.

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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 52QIAGEN, 12EMD Millipore
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Compounds for genes affiliated with Myasthenic Syndrome, Fast-Channel Congenital

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Myasthenic Syndrome, Fast-Channel Congenital according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine45 50 29 11 2413.1CHRND, CHRNA1
2galantamine45 50 1110.2CHRNE, CHRND, CHRNA1

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

Sources:
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

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