SCCMS
MCID: SLW003
MIFTS: 30

Slow-Channel Congenital Myasthenic Syndrome (SCCMS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Slow-Channel Congenital Myasthenic Syndrome

MalaCards integrated aliases for Slow-Channel Congenital Myasthenic Syndrome:

Name: Slow-Channel Congenital Myasthenic Syndrome 53
Myasthenic Syndrome, Slow-Channel Congenital 29 13 6
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel 53 73
Sccms 53 55
Myasthenic Syndromes, Congenital, Slow Channel 73
Myasthenic Syndrome, Congenital, Slow-Channel 53
Slow Channel Congenital Myasthenic Syndrome 53
Myasthenic Syndrome, Congenital, Type Iia 53
Cms Iia 53
Cms2a 53

Classifications:



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Summaries for Slow-Channel Congenital Myasthenic Syndrome

MalaCards based summary : Slow-Channel Congenital Myasthenic Syndrome, also known as myasthenic syndrome, slow-channel congenital, is related to congenital myasthenic syndrome and myasthenic syndrome, congenital, 1a, slow-channel. An important gene associated with Slow-Channel Congenital Myasthenic Syndrome is CHRNA1 (Cholinergic Receptor Nicotinic Alpha 1 Subunit), and among its related pathways/superpathways are Peptide ligand-binding receptors and CREB Pathway.

Related Diseases for Slow-Channel Congenital Myasthenic Syndrome

Graphical network of the top 20 diseases related to Slow-Channel Congenital Myasthenic Syndrome:



Diseases related to Slow-Channel Congenital Myasthenic Syndrome

Symptoms & Phenotypes for Slow-Channel Congenital Myasthenic Syndrome

Drugs & Therapeutics for Slow-Channel Congenital Myasthenic Syndrome

Search Clinical Trials , NIH Clinical Center for Slow-Channel Congenital Myasthenic Syndrome

Genetic Tests for Slow-Channel Congenital Myasthenic Syndrome

Genetic tests related to Slow-Channel Congenital Myasthenic Syndrome:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Slow-Channel Congenital 29 CHRNA1

Anatomical Context for Slow-Channel Congenital Myasthenic Syndrome

Publications for Slow-Channel Congenital Myasthenic Syndrome

Articles related to Slow-Channel Congenital Myasthenic Syndrome:

(show all 17)
# Title Authors Year
1
A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family. ( 27779167 )
2016
2
Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. ( 25448156 )
2015
3
Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. ( 23281026 )
2013
4
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. ( 23688972 )
2013
5
A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR I/L221F mutation. ( 22178625 )
2012
6
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. ( 21822932 )
2012
7
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship: Correction. ( 22406191 )
2012
8
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. ( 21316238 )
2011
9
Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome. ( 19289485 )
2009
10
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. ( 16621558 )
2006
11
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. ( 12771277 )
2003
12
Hidden afterdischarges in slow channel congenital myasthenic syndrome. ( 19078585 )
2000
13
Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. ( 9546329 )
1998
14
Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome. ( 9668241 )
1998
15
AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome. ( 9668240 )
1998
16
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. ( 9158151 )
1997
17
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

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

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRNA1 NM_001039523.2(CHRNA1): c.786C> G (p.Asn262Lys) single nucleotide variant Pathogenic rs137852798 GRCh37 Chromosome 2, 175618298: 175618298
2 CHRNA1 NM_001039523.2(CHRNA1): c.786C> G (p.Asn262Lys) single nucleotide variant Pathogenic rs137852798 GRCh38 Chromosome 2, 174753570: 174753570
3 CHRNA1 NM_001039523.2(CHRNA1): c.601G> A (p.Val201Met) single nucleotide variant Pathogenic rs137852799 GRCh37 Chromosome 2, 175618961: 175618961
4 CHRNA1 NM_001039523.2(CHRNA1): c.601G> A (p.Val201Met) single nucleotide variant Pathogenic rs137852799 GRCh38 Chromosome 2, 174754233: 174754233
5 CHRNA1 NM_001039523.2(CHRNA1): c.896C> T (p.Thr299Ile) single nucleotide variant Pathogenic rs137852800 GRCh37 Chromosome 2, 175614855: 175614855
6 CHRNA1 NM_001039523.2(CHRNA1): c.896C> T (p.Thr299Ile) single nucleotide variant Pathogenic rs137852800 GRCh38 Chromosome 2, 174750127: 174750127
7 CHRNA1 NM_000079.3(CHRNA1): c.517G> A (p.Gly173Ser) single nucleotide variant Pathogenic rs137852801 GRCh37 Chromosome 2, 175618970: 175618970
8 CHRNA1 NM_000079.3(CHRNA1): c.517G> A (p.Gly173Ser) single nucleotide variant Pathogenic rs137852801 GRCh38 Chromosome 2, 174754242: 174754242
9 CHRNA1 NM_001039523.2(CHRNA1): c.941G> T (p.Ser314Ile) single nucleotide variant Pathogenic rs137852802 GRCh37 Chromosome 2, 175614810: 175614810
10 CHRNA1 NM_001039523.2(CHRNA1): c.941G> T (p.Ser314Ile) single nucleotide variant Pathogenic rs137852802 GRCh38 Chromosome 2, 174750082: 174750082
11 CHRNA1 NM_000079.3(CHRNA1): c.805G> T (p.Val269Phe) single nucleotide variant Likely pathogenic rs137852803 GRCh37 Chromosome 2, 175614871: 175614871
12 CHRNA1 NM_000079.3(CHRNA1): c.805G> T (p.Val269Phe) single nucleotide variant Likely pathogenic rs137852803 GRCh38 Chromosome 2, 174750143: 174750143
13 CHRNA1 NM_001039523.2(CHRNA1): c.1389C> G (p.Cys463Trp) single nucleotide variant Pathogenic rs137852808 GRCh37 Chromosome 2, 175612912: 175612912
14 CHRNA1 NM_001039523.2(CHRNA1): c.1389C> G (p.Cys463Trp) single nucleotide variant Pathogenic rs137852808 GRCh38 Chromosome 2, 174748184: 174748184
15 CHRNA1 NM_000079.3(CHRNA1): c.737C> A (p.Ser246Tyr) single nucleotide variant Pathogenic rs483353046 GRCh37 Chromosome 2, 175618272: 175618272
16 CHRNA1 NM_000079.3(CHRNA1): c.737C> A (p.Ser246Tyr) single nucleotide variant Pathogenic rs483353046 GRCh38 Chromosome 2, 174753544: 174753544
17 CHRNA1 NM_000079.3(CHRNA1): c.737C> T (p.Ser246Phe) single nucleotide variant Pathogenic rs483353046 GRCh37 Chromosome 2, 175618272: 175618272
18 CHRNA1 NM_000079.3(CHRNA1): c.737C> T (p.Ser246Phe) single nucleotide variant Pathogenic rs483353046 GRCh38 Chromosome 2, 174753544: 174753544
19 CHRNA1 NM_000079.3(CHRNA1): c.1139T> C (p.Met380Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149292107 GRCh37 Chromosome 2, 175613411: 175613411
20 CHRNA1 NM_000079.3(CHRNA1): c.1139T> C (p.Met380Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149292107 GRCh38 Chromosome 2, 174748683: 174748683
21 CHRNA1 NM_000079.3(CHRNA1): c.424G> A (p.Ala142Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 175619063: 175619063
22 CHRNA1 NM_000079.3(CHRNA1): c.424G> A (p.Ala142Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 174754335: 174754335

Expression for Slow-Channel Congenital Myasthenic Syndrome

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

Pathways for Slow-Channel Congenital Myasthenic Syndrome

Pathways related to Slow-Channel Congenital Myasthenic Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 CHRNA1 CHRNB1 CHRND CHRNE
2
Show member pathways
12.66 CHRNA1 CHRND CHRNE
3
Show member pathways
12.51 CHRNA1 CHRNB1 CHRND CHRNE
4
Show member pathways
12.35 CHRNA1 CHRND CHRNE
5
Show member pathways
11.6 CHRNA1 CHRNB1
6
Show member pathways
11.06 CHRNA1 CHRND CHRNE
7 10 CHRNA1 CHRNB1 CHRND CHRNE

GO Terms for Slow-Channel Congenital Myasthenic Syndrome

Cellular components related to Slow-Channel Congenital Myasthenic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.73 CHRNA1 CHRNB1 CHRND CHRNE
2 cell junction GO:0030054 9.71 CHRNA1 CHRNB1 CHRND CHRNE
3 synapse GO:0045202 9.67 CHRNA1 CHRNB1 CHRND CHRNE
4 neuron projection GO:0043005 9.62 CHRNA1 CHRNB1 CHRND CHRNE
5 postsynaptic membrane GO:0045211 9.56 CHRNA1 CHRNB1 CHRND CHRNE
6 integral component of postsynaptic specialization membrane GO:0099060 9.33 CHRNA1 CHRNB1 CHRND
7 neuromuscular junction GO:0031594 9.26 CHRNA1 CHRNB1 CHRND CHRNE
8 acetylcholine-gated channel complex GO:0005892 8.92 CHRNA1 CHRNB1 CHRND CHRNE

Biological processes related to Slow-Channel Congenital Myasthenic Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.87 CHRNA1 CHRNB1 CHRND CHRNE
2 ion transport GO:0006811 9.85 CHRNA1 CHRNB1 CHRND CHRNE
3 ion transmembrane transport GO:0034220 9.78 CHRNA1 CHRNB1 CHRND CHRNE
4 chemical synaptic transmission GO:0007268 9.76 CHRNA1 CHRNB1 CHRND CHRNE
5 muscle contraction GO:0006936 9.71 CHRNB1 CHRND CHRNE
6 regulation of membrane potential GO:0042391 9.71 CHRNA1 CHRNB1 CHRND CHRNE
7 cation transport GO:0006812 9.69 CHRNA1 CHRNB1 CHRND
8 excitatory postsynaptic potential GO:0060079 9.67 CHRNA1 CHRNB1 CHRND CHRNE
9 nervous system process GO:0050877 9.62 CHRNA1 CHRNB1 CHRND CHRNE
10 skeletal muscle contraction GO:0003009 9.61 CHRNA1 CHRNB1 CHRND
11 neuromuscular process GO:0050905 9.56 CHRNA1 CHRND
12 regulation of postsynaptic membrane potential GO:0060078 9.56 CHRNA1 CHRNB1 CHRND CHRNE
13 musculoskeletal movement GO:0050881 9.52 CHRNA1 CHRND
14 skeletal muscle tissue growth GO:0048630 9.49 CHRNA1 CHRND
15 response to nicotine GO:0035094 9.46 CHRNA1 CHRNB1 CHRND CHRNE
16 neuromuscular synaptic transmission GO:0007274 9.26 CHRNA1 CHRNB1 CHRND CHRNE
17 synaptic transmission, cholinergic GO:0007271 8.92 CHRNA1 CHRNB1 CHRND CHRNE

Molecular functions related to Slow-Channel Congenital Myasthenic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.71 CHRNA1 CHRNB1 CHRND CHRNE
2 extracellular ligand-gated ion channel activity GO:0005230 9.67 CHRNA1 CHRNB1 CHRND CHRNE
3 ligand-gated ion channel activity GO:0015276 9.62 CHRNA1 CHRNB1 CHRND CHRNE
4 transmembrane signaling receptor activity GO:0004888 9.61 CHRNA1 CHRNB1 CHRND
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.56 CHRNA1 CHRNB1 CHRND CHRNE
6 acetylcholine binding GO:0042166 9.46 CHRNA1 CHRNB1 CHRND CHRNE
7 acetylcholine-gated cation-selective channel activity GO:0022848 9.26 CHRNA1 CHRNB1 CHRND CHRNE
8 acetylcholine receptor activity GO:0015464 8.92 CHRNA1 CHRNB1 CHRND CHRNE

Sources for Slow-Channel Congenital Myasthenic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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