MCID: MYS022
MIFTS: 26

Myasthenic Syndrome, Fast-Channel Congenital malady

Genetic diseases (common) category

Summaries for Myasthenic Syndrome, Fast-Channel Congenital

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OMIM:46 Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction that can be classified by the site...608930 more...

MalaCards based summary: Myasthenic Syndrome, Fast-Channel Congenital is related to congenital myasthenic syndrome and myopathy, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and high palate. 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.

Aliases & Classifications for Myasthenic Syndrome, Fast-Channel Congenital

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Myasthenic Syndrome, Fast-Channel Congenital, Aliases & Descriptions:

Name: Myasthenic Syndrome, Fast-Channel Congenital 46


Classifications:

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


Related Diseases for Myasthenic Syndrome, Fast-Channel Congenital

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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 syndrome30.8CHRNA1
2myopathy10.0CHRND, CHRNE
3neuropathy9.8CHRND, CHRNE
4multiple pterygium syndrome lethal type9.8CHRNA1, CHRND
5slow-channel congenital myasthenic syndrome9.7CHRND, CHRNA1, CHRNE

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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Symptoms by clinical synopsis from OMIM:

608930

Clinical features from OMIM:

608930

HPO human phenotypes related to Myasthenic Syndrome, Fast-Channel Congenital:

(show all 24)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 high palate HP:0000218
4 micrognathia HP:0000347
5 macrotia HP:0000400
6 ptosis HP:0000508
7 ophthalmoparesis HP:0000597
8 muscular hypotonia HP:0001252
9 dysarthria HP:0001260
10 motor delay HP:0001270
11 bulbar palsy HP:0001283
12 weak cry HP:0001612
13 dysphagia HP:0002015
14 poor suck HP:0002033
15 scoliosis HP:0002650
16 respiratory insufficiency due to muscle weakness HP:0002747
17 arthrogryposis multiplex congenita HP:0002804
18 generalized muscle weakness HP:0003324
19 easy fatigability HP:0003388
20 gowers sign HP:0003391
21 decreased miniature endplate potentials HP:0003402
22 type 2 muscle fiber atrophy HP:0003554
23 infantile onset HP:0003593
24 variable expressivity HP:0003828

Drugs & Therapeutics for Myasthenic Syndrome, Fast-Channel Congenital

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Drug clinical trials:

Search ClinicalTrials for Myasthenic Syndrome, Fast-Channel Congenital

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

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

63 (show all 11)
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
11CHRNEp.Trp75ArgVAR_071629

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

7 (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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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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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 regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
9.1CHRNA1, CHRNE
2
Show member pathways
8.5CHRNE, CHRND, CHRNA1
3
Show member pathways
8.5CHRNE, CHRNA1, CHRND
4
Show member pathways
8.5CHRNE, CHRNA1, CHRND
58.5CHRNE, CHRNA1, CHRND
6
Show member pathways
8.5CHRNE, CHRNA1, CHRND
7
Show member pathways
8.5CHRND, CHRNE, CHRNA1

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

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Sources:
44Novoseek, 50PharmGKB, 29IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Myasthenic Syndrome, Fast-Channel Congenital according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine44 50 29 25 1213.0CHRND, CHRNA1
2galantamine44 50 1210.2CHRND, CHRNA1, CHRNE

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

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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:0058868.5CHRNE, CHRNA1, CHRND
3postsynaptic membraneGO:0452118.4CHRNE, CHRNA1, CHRND
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
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet