SCCMS
MCID: SLW003
MIFTS: 41

Slow-Channel Congenital Myasthenic Syndrome (SCCMS) malady

Genetic diseases, Rare diseases categories
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Summaries for Slow-Channel Congenital Myasthenic Syndrome

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MalaCards based summary: Slow-Channel Congenital Myasthenic Syndrome, also known as SCCMS, is related to congenital myasthenic syndrome and myasthenic syndrome, fast-channel congenital, and has symptoms including An important gene associated with Slow-Channel Congenital Myasthenic Syndrome is CHRNB1 (cholinergic receptor, nicotinic, beta 1 (muscle)), and among its related pathways are AMPK Enzyme Complex Pathway and Translation Insulin regulation of translation. The compounds acetylcholine and galantamine have been mentioned in the context of this disorder. Related mouse phenotype nervous system.

Description from OMIM:46 601462

Aliases & Classifications for Slow-Channel Congenital Myasthenic Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 62UMLS
See all sources

Slow-Channel Congenital Myasthenic Syndrome, Aliases & Descriptions:

Name: Slow-Channel Congenital Myasthenic Syndrome 42
Sccms 42 44 62
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel 42 62
Myasthenic Syndrome, Congenital, Slow-Channel 42 62
Slow Channel Congenital Myasthenic Syndrome 42 22
 
Cms Iia 42 62
Myasthenic Syndromes, Congenital, Slow Channel 62
Myasthenic Syndrome, Slow-Channel Congenital 46
Myasthenic Syndrome, Congenital, Type Iia 42
Cms2a 42


Classifications:

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


Related Diseases for Slow-Channel Congenital Myasthenic Syndrome

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



Diseases related to slow-channel congenital myasthenic syndrome

Symptoms for Slow-Channel Congenital Myasthenic Syndrome

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Symptoms by clinical synopsis from OMIM:

601462

Clinical features from OMIM:

601462

HPO human phenotypes related to Slow-Channel Congenital Myasthenic Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 ptosis HP:0000508
4 ophthalmoparesis HP:0000597
5 dysarthria HP:0001260
6 dysphagia HP:0002015
7 generalized muscle weakness HP:0003324
8 prolonged miniature endplate currents HP:0003436
9 decreased size of nerve terminals HP:0003443
10 fatigable weakness HP:0003473
11 type 2 muscle fiber atrophy HP:0003554
12 onset HP:0003674
13 intermittent episodes of respiratory insufficiency due to muscle weakness HP:0004889

Drugs & Therapeutics for Slow-Channel Congenital Myasthenic Syndrome

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Drug clinical trials:

Search ClinicalTrials for Slow-Channel Congenital Myasthenic Syndrome

Search NIH Clinical Center for Slow-Channel Congenital Myasthenic Syndrome

Genetic Tests for Slow-Channel Congenital Myasthenic Syndrome

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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

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.4CHRNG, CHRNA1, CHRNE, CHRNB1

Publications for Slow-Channel Congenital Myasthenic Syndrome

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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

Variations for Slow-Channel Congenital Myasthenic Syndrome

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

64 (show all 15)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Slow-Channel Congenital Myasthenic Syndrome:

6 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1CHRNA1NM_001039523.2(CHRNA1): c.812C> A (p.Ser271Tyr)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
2CHRNA1NM_001039523.2(CHRNA1): c.812C> T (p.Ser271Phe)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
3NM_000080.3(CHRNE): c.850A> C (p.Thr284Pro)single nucleotide variantPathogenicrs121909510GRCh37Chr 17, 4804155: 4804155
4NM_000080.3(CHRNE): c.865C> T (p.Leu289Phe)single nucleotide variantPathogenicrs121909511GRCh37Chr 17, 4804140: 4804140
5NM_000080.3(CHRNE): c.721C> T (p.Leu241Phe)single nucleotide variantPathogenicrs28999110GRCh37Chr 17, 4804366: 4804366
6CHRNDNM_000751.2(CHRND): c.866C> T (p.Ser289Phe)single nucleotide variantPathogenicrs121909502GRCh37Chr 2, 233396107: 233396107
7CHRNB1NM_000747.2(CHRNB1): c.865G> A (p.Val289Met)single nucleotide variantPathogenicrs137852810GRCh37Chr 17, 7357660: 7357660
8CHRNB1NM_000747.2(CHRNB1): c.853C> A (p.Leu285Met)single nucleotide variantPathogenicrs137852811GRCh37Chr 17, 7357648: 7357648
9CHRNA1NM_001039523.2(CHRNA1): c.786C> G (p.Asn262Lys)single nucleotide variantPathogenicrs137852798GRCh37Chr 2, 175618298: 175618298
10CHRNA1NM_001039523.2(CHRNA1): c.601G> A (p.Val201Met)single nucleotide variantPathogenicrs137852799GRCh37Chr 2, 175618961: 175618961
11CHRNA1NM_001039523.2(CHRNA1): c.896C> T (p.Thr299Ile)single nucleotide variantPathogenicrs137852800GRCh37Chr 2, 175614855: 175614855
12CHRNA1NM_001039523.2(CHRNA1): c.592G> A (p.Gly198Ser)single nucleotide variantPathogenicrs137852801GRCh37Chr 2, 175618970: 175618970
13CHRNA1NM_001039523.2(CHRNA1): c.941G> T (p.Ser314Ile)single nucleotide variantPathogenicrs137852802GRCh37Chr 2, 175614810: 175614810
14CHRNA1NM_001039523.2(CHRNA1): c.880G> T (p.Val294Phe)single nucleotide variantPathogenicrs137852803GRCh37Chr 2, 175614871: 175614871
15CHRNA1NM_001039523.2(CHRNA1): c.1389C> G (p.Cys463Trp)single nucleotide variantPathogenicrs137852808GRCh37Chr 2, 175612912: 175612912

Expression for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

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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

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4CHRNB1, CHRNA1
2
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.3CHRNE, CHRNA1
3
Show member pathways
8.0CHRNG, CHRND, CHRNA1, CHRNE
4
Show member pathways
8.0CHRNE, CHRND, CHRNA1, CHRNG
5
Show member pathways
8.0CHRND, CHRNA1, CHRNE, CHRNG
6
Show member pathways
7.5CHRNB1, CHRNE, CHRNA1, CHRND, CHRNG
7
Show member pathways
7.5CHRNG, CHRNA1, CHRNB1, CHRNE, CHRND
87.5CHRNG, CHRNB1, CHRNE, CHRNA1, CHRND

Compounds for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

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Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Slow-Channel Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine44 50 28 24 1113.0CHRND, CHRNA1
2galantamine44 50 119.2CHRNG, CHRND, CHRNA1, CHRNE, CHRNB1

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

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

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.7CHRNG, CHRNE, CHRNB1
2plasma membraneGO:0058868.0CHRNG, CHRND, CHRNA1, CHRNE
3acetylcholine-gated channel complexGO:0058927.6CHRNG, CHRND, CHRNA1, CHRNE, CHRNB1
4postsynaptic membraneGO:0452117.5CHRNB1, CHRNE, CHRNA1, CHRND, CHRNG
5cell junctionGO:0300547.4CHRNB1, CHRNE, CHRNA1, CHRND, CHRNG

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular synaptic transmissionGO:0072749.4CHRNA1, CHRNB1
2ion transmembrane transportGO:0342209.4CHRNA1, CHRNB1
3synaptic transmission, cholinergicGO:0072719.2CHRNE, CHRNB1
4skeletal muscle tissue growthGO:0486309.1CHRND, CHRNA1
5musculoskeletal movementGO:0508819.1CHRNA1, CHRND
6neuromuscular processGO:0509058.9CHRND, CHRNA1
7muscle contractionGO:0069368.4CHRNB1, CHRNE, CHRND, CHRNG
8cation transportGO:0068128.3CHRNB1, CHRNE, CHRNA1, CHRND
9transportGO:0068108.2CHRNE, CHRNA1, CHRND, CHRNG
10synaptic transmissionGO:0072688.1CHRNG, CHRND, CHRNA1, CHRNE
11regulation of membrane potentialGO:0423917.8CHRNG, CHRND, CHRNA1, CHRNE, CHRNB1
12signal transductionGO:0071657.7CHRNG, CHRND, CHRNA1, CHRNE, CHRNB1

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

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:0152679.5CHRNG, CHRNB1
2acetylcholine bindingGO:0421668.3CHRND, CHRNA1, CHRNB1
3acetylcholine receptor activityGO:0154648.3CHRNB1, CHRNE, CHRNA1, CHRNG
4acetylcholine-activated cation-selective channel activityGO:0048897.5CHRNG, CHRND, CHRNA1, CHRNE, CHRNB1

Products for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

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Sources for Slow-Channel Congenital Myasthenic Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet