MCID: MYS022
MIFTS: 23

Myasthenic Syndrome, Fast-Channel Congenital malady

Genetic diseases (common) category

Summaries for Myasthenic Syndrome, Fast-Channel Congenital

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48OMIM, 34MalaCards
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MalaCards: Myasthenic Syndrome, Fast-Channel Congenital is related to congenital myasthenic syndrome and myopathy. An important gene associated with Myasthenic Syndrome, Fast-Channel Congenital is CHRND (cholinergic receptor, nicotinic, delta (muscle)), and among its related pathways are Translation Insulin regulation of translation and Peptide ligand-binding receptors. The compounds acetylcholine and galantamine have been mentioned in the context of this disorder.

Description from OMIM:48 608930

Aliases & Classifications for Myasthenic Syndrome, Fast-Channel Congenital

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

myasthenic syndrome, fast-channel congenital 48


Related Diseases for Myasthenic Syndrome, Fast-Channel Congenital

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18GeneCards, 19GeneDecks
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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 syndrome30.6CHRNA1
2myopathy10.0CHRNE, CHRND
3neuropathy10.0CHRNE, CHRND
4multiple pterygium syndrome lethal type9.9CHRNA1, CHRND
5slow-channel congenital myasthenic syndrome9.9CHRNE, CHRNA1, CHRND

Graphical network of diseases related to Myasthenic Syndrome, Fast-Channel Congenital:



Diseases related to myasthenic syndrome, fast-channel congenital

Symptoms for Myasthenic Syndrome, Fast-Channel Congenital

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48OMIM
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Symptoms by clinical synopsis from OMIM:

608930

Clinical features from OMIM:

608930

Drugs & Therapeutics for Myasthenic Syndrome, Fast-Channel Congenital

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Variations for Myasthenic Syndrome, Fast-Channel Congenital

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Fast-Channel Congenital:

65
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

Clinvar genetic disease variations for Myasthenic Syndrome, Fast-Channel Congenital:

1 (show all 18)
id Gene Name Type Significance SNP ID Assembly Location
1NM_000080.3(CHRNE): c.421C> A (p.Pro141Thr)single nucleotide variantPathogenicrs483353045GRCh37Chr 17, 4805306: 4805306
2NM_000080.3(CHRNE): c.422C> T (p.Pro141Leu)single nucleotide variantPathogenicrs121909512GRCh37Chr 17, 4805305: 4805305
3CHRNENM_000080.3(CHRNE): c.37G> A (p.Gly13Arg)single nucleotide variantPathogenicrs372635387GRCh37Chr 17, 4806322: 4806322
4NM_000080.3(CHRNE): c.488C> T (p.Ser163Leu)single nucleotide variantPathogenicrs121909516GRCh37Chr 17, 4805239: 4805239
5CHRNENM_000080.3(CHRNE): c.1291G> C (p.Ala431Pro)single nucleotide variantPathogenicrs121909517GRCh37Chr 17, 4802331: 4802331
6CHRNDNM_000751.2(CHRND): c.812C> A (p.Pro271Gln)single nucleotide variantPathogenicrs121909503GRCh37Chr 2, 233394841: 233394841
7CHRNDNM_000751.2(CHRND): c.236T> A (p.Ile79Lys)single nucleotide variantPathogenicrs121909509GRCh37Chr 2, 233392148: 233392148
8CHRNDNM_000751.2(CHRND): c.238G> A (p.Glu80Lys)single nucleotide variantPathogenicrs121909504GRCh37Chr 2, 233392150: 233392150
9CHRNDCHRND, 2-BP DEL, 756AGdeletionPathogenic
10CHRNDNM_000751.2(CHRND): c.188T> C (p.Leu63Pro)single nucleotide variantPathogenicrs121909508GRCh37Chr 2, 233391374: 233391374
11CHRNA1NM_001039523.2(CHRNA1): c.988G> A (p.Val330Ile)single nucleotide variantPathogenicrs137852804GRCh37Chr 2, 175614763: 175614763
12CHRNA1NM_001039523.2(CHRNA1): c.832T> G (p.Phe278Val)single nucleotide variantPathogenicrs137852805GRCh37Chr 2, 175618252: 175618252
13CHRNA1NM_001039523.2(CHRNA1): c.901T> C (p.Phe301Leu)single nucleotide variantPathogenicrs137852806GRCh37Chr 2, 175614850: 175614850
14CHRNA1NM_001039523.2(CHRNA1): c.529G> C (p.Val177Leu)single nucleotide variantPathogenicrs137852807GRCh37Chr 2, 175619033: 175619033
15CHRNA1CHRNA1, 1-BP DEL, 381CdeletionPathogenic
16CHRNA1CHRNA1, IVS3AS, G-A, -8single nucleotide variantPathogenic
17CHRNA1CHRNA1, ARG313TRPundetermined variantPathogenic
18NM_000080.3(CHRNE): c.223T> C (p.Trp75Arg)single nucleotide variantPathogenicrs193919341GRCh37Chr 17, 4805756: 4805756

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

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2BioGPS, 16Gene 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

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51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 54QIAGEN, 13EMD Millipore
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Pathways related to Myasthenic Syndrome, Fast-Channel Congenital according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
9.1CHRNA1, CHRNE
2
Show member pathways
8.5CHRND, CHRNA1, CHRNE
3
Show member pathways
8.5CHRNE, CHRNA1, CHRND
4
Show member pathways
8.5CHRNE, CHRNA1, CHRND
58.5CHRND, CHRNA1, CHRNE
6
Show member pathways
8.5CHRNE, CHRNA1, CHRND
7
Show member pathways
8.5CHRND, CHRNA1, CHRNE

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

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Sources:
46Novoseek, 52PharmGKB, 30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Myasthenic Syndrome, Fast-Channel Congenital according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine46 52 30 25 1213.0CHRND, CHRNA1
2galantamine46 52 1210.2CHRND, CHRNA1, CHRNE

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

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17Gene Ontology
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Cellular components related to Myasthenic Syndrome, Fast-Channel Congenital according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-gated channel complexGO:0058928.5CHRND, CHRNA1, CHRNE
2plasma membraneGO:0058868.5CHRND, CHRNA1, CHRNE
3postsynaptic membraneGO:0452118.4CHRND, CHRNA1, CHRNE
4cell junctionGO:0300548.2CHRNE, CHRNA1, CHRND

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.3CHRND, CHRNE
2skeletal muscle tissue growthGO:0486309.2CHRND, CHRNA1
3musculoskeletal movementGO:0508819.1CHRND, CHRNA1
4neuromuscular processGO:0509059.0CHRND, CHRNA1
5cation transportGO:0068128.7CHRND, CHRNA1, CHRNE
6regulation of membrane potentialGO:0423918.7CHRNE, CHRNA1, CHRND
7transportGO:0068108.6CHRNE, CHRNA1, CHRND
8synaptic transmissionGO:0072688.4CHRNE, CHRNA1, CHRND
9signal transductionGO:0071658.2CHRND, CHRNA1, CHRNE

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:0154649.1CHRNA1, CHRNE
2acetylcholine bindingGO:0421668.7CHRND, CHRNA1
3acetylcholine-activated cation-selective channel activityGO:0048898.4CHRND, CHRNA1, CHRNE

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet