MCID: SLW003
MIFTS: 40

Slow-Channel Congenital Myasthenic Syndrome malady

Neuronal, Eye categories

Summaries for Slow-Channel Congenital Myasthenic Syndrome

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Slow-Channel Congenital Myasthenic Syndrome, also known as myasthenic syndrome, congenital, postsynaptic slow-channel, is related to congenital myasthenic syndrome and nicotine dependence. An important gene associated with Slow-Channel Congenital Myasthenic Syndrome is CHRNB1 (cholinergic receptor, nicotinic, beta 1 (muscle)), and among its related pathways are Transmission across Chemical Synapses and Presynaptic nicotinic acetylcholine receptors. The compounds succinylcholine and alpha-bungarotoxin have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and respiratory system.

Description from OMIM:47 601462,608930,608931,614198,254300

Aliases & Classifications for Slow-Channel Congenital Myasthenic Syndrome

Sources:
43NIH Rare Diseases, 61UMLS, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye


Aliases & Descriptions:

slow-channel congenital myasthenic syndrome 43
myasthenic syndrome, congenital, postsynaptic slow-channel 43 61
myasthenic syndrome, congenital, slow-channel 43 22
myasthenic syndromes, congenital, slow channel 61
congenital myasthenic syndromes, postsynaptic 61
postsynaptic congenital myasthenic syndromes 49
myasthenic syndrome, slow-channel congenital 47
myasthenic syndrome, congenital, type iia 43
cms iia 43
cms2a 43


External Ids:

ICD10 via Orphanet26 G70.2

Related Diseases for Slow-Channel Congenital Myasthenic Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to slow-channel congenital myasthenic syndrome

Clinical Features for Slow-Channel Congenital Myasthenic Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

601462,608930,608931,614198,254300

Clinical synopsis from OMIM:

601462

Drugs & Therapeutics for Slow-Channel Congenital Myasthenic Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Slow-Channel Congenital Myasthenic Syndrome

Drug clinical trials:

Search ClinicalTrials for Slow-Channel Congenital Myasthenic Syndrome

Search NIH Clinical Center for Slow-Channel Congenital Myasthenic Syndrome

Search CenterWatch for Slow-Channel Congenital Myasthenic Syndrome

Genetic Tests for Slow-Channel Congenital Myasthenic Syndrome

Sources:
22GTR
See all sources

Genetic tests related to Slow-Channel Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Myasthenic Syndrome, Slow-channel Congenital22

Anatomical Context for Slow-Channel Congenital Myasthenic Syndrome

Animal Models for Slow-Channel Congenital Myasthenic Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Slow-Channel Congenital Myasthenic Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.9MUSK, SCN4A, AGRN, CHRNE, RAPSN
2MP:00053887.7RAPSN, MUSK, CHRNE, DOK7, AGRN
3MP:00053867.3MUSK, CHRNE, CHRNA1, AGRN, DOK7, SCN4A
4MP:00036317.1CHRNE, MUSK, CHRNB1, CHRNA1, AGRN, DOK7
5MP:00107686.5MUSK, CHRNE, CHRNA1, AGRN, RAPSN, DOK7

Publications for Slow-Channel Congenital Myasthenic Syndrome

Sources:
51PubMed
See all sources

Articles related to Slow-Channel Congenital Myasthenic Syndrome:

(show all 16)
idTitleAuthorsYear
1
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. (23688972)
2013
2
Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. (23281026)
2013
3
A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR I/L221F mutation. (22178625)
2012
4
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship: Correction. (22406191)
2012
5
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. (21822932)
2012
6
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. (21316238)
2011
7
Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome. (19289485)
2009
8
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. (16621558)
2006
9
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. (12771277)
2003
10
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. (12141316)
2002
11
Hidden afterdischarges in slow channel congenital myasthenic syndrome. (19078585)
2000
12
AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome. (9668240)
1998
13
Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome. (9668241)
1998
14
Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. (9546329)
1998
15
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. (9158151)
1997
16
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. (8872460)
1996

Genetic Variations for Slow-Channel Congenital Myasthenic Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Slow-Channel Congenital Myasthenic Syndrome:

63 (show all 15)
id Symbol AA change Variation SNP ID
1CHRNA1p.Gly198SerVAR_000282
2CHRNA1p.Val201MetVAR_000283
3CHRNA1p.Asn262LysVAR_000284
4CHRNA1p.Thr299IleVAR_000285
5CHRNA1p.Ser314IleVAR_000286
6CHRNA1p.Val294PheVAR_021207
7CHRNA1p.Cys463TrpVAR_038601
8CHRNB1p.Leu285MetVAR_000287
9CHRNB1p.Val289MetVAR_000288
10CHRNDp.Ser289PheVAR_019566
11CHRNDp.Gln288GluVAR_021212rs41265127
12CHRNEp.Thr284ProVAR_000292
13CHRNEp.Leu289PheVAR_000293
14CHRNEp.Leu98ProVAR_019567rs28929768
15CHRNEp.Leu241PheVAR_019568rs28999110

Expression for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

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

Pathways for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

Sources:
54Reactome, 30KEGG, 12EMD Millipore, 52QIAGEN
See all sources

Compounds for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 24HMDB
See all sources

Compounds related to Slow-Channel Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1succinylcholine45 29 1111.6SCN4A, CHRNA1
2alpha-bungarotoxin45 6010.5CHRNA1, AGRN
3galantamine45 50 1111.2CHRNE, CHRNB1, CHRND, CHRNA1
4sodium45 249.9RAPSN, AGRN, SCN4A
5nicotine45 50 29 1111.9MUSK, CHRNA1, AGRN
6potassium45 11 2410.7SCN4A, MUSK, RAPSN
7acetylcholine45 50 29 11 2412.2AGRN, CHRNA1, CHRND, MUSK, RAPSN

GO Terms for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Slow-Channel Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-gated channel complexGO:0058929.0CHRNA1, CHRND, CHRNB1, CHRNE
2integral to plasma membraneGO:0058878.8MUSK, CHRNE, CHRNB1, SCN4A
3neuromuscular junctionGO:0315948.2RAPSN, MUSK, CHRNA1, DOK7
4postsynaptic membraneGO:0452118.1CHRNA1, CHRND, CHRNB1, CHRNE, MUSK, RAPSN
5plasma membraneGO:0058867.1DOK7, AGRN, CHRNA1, CHRND, CHRNE, RAPSN
6cell junctionGO:0300546.7RAPSN, DOK7, AGRN, CHRNA1, CHRND, CHRNB1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue growthGO:0486309.9CHRND, CHRNA1
2musculoskeletal movementGO:0508819.9CHRNA1, CHRND
3neuromuscular synaptic transmissionGO:0072749.8CHRNA1, CHRNB1
4neuromuscular processGO:0509059.8CHRND, CHRNA1
5cation transportGO:0068129.7CHRNE, CHRNB1
6synaptic transmission, cholinergicGO:0072719.6CHRNE, RAPSN, CHRNB1
7transportGO:0068109.3CHRNA1, CHRND, CHRNE
8regulation of membrane potentialGO:0423919.3CHRNA1, CHRND, CHRNB1, CHRNE
9positive regulation of neuron apoptotic processGO:0435259.2MUSK, RAPSN
10muscle contractionGO:0069369.1SCN4A, CHRND, CHRNB1, CHRNE
11receptor clusteringGO:0431139.1AGRN, DOK7
12synaptic transmissionGO:0072689.1CHRNE, CHRNA1, CHRND, RAPSN
13neuromuscular junction developmentGO:0075289.0DOK7, CHRNA1, MUSK
14signal transductionGO:0071658.6CHRNE, CHRNA1, AGRN, CHRNB1, CHRND

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:0154649.4CHRNE, CHRNB1, CHRNA1
2acetylcholine bindingGO:0421669.1CHRNA1, CHRND, CHRNB1
3acetylcholine-activated cation-selective channel activityGO:0048898.9CHRNE, CHRNB1, CHRND, CHRNA1

Products for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Slow-Channel Congenital Myasthenic Syndrome

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