MCID: SLW003
MIFTS: 32

Slow-Channel Congenital Myasthenic Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal 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 Nanog in Mammalian ESC Pluripotency. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Slow-Channel Congenital Myasthenic Syndrome

Diseases in the Slow-Channel Congenital Myasthenic Syndrome family:

Myasthenic Syndrome, Congenital, 1a, Slow-Channel Myasthenic Syndrome, Congenital, 4a, Slow-Channel
Myasthenic Syndrome, Congenital, 2a, Slow-Channel Myasthenic Syndrome, Congenital, 3a, Slow-Channel

Diseases related to Slow-Channel Congenital Myasthenic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 congenital myasthenic syndrome 29.6 CHRNA1 CHRNB1 CHRND CHRNE
2 myasthenic syndrome, congenital, 1a, slow-channel 11.9
3 myasthenic syndrome, congenital, 4a, slow-channel 11.2
4 myasthenic syndrome, congenital, 2a, slow-channel 11.2
5 myasthenic syndrome, congenital, 3a, slow-channel 11.2
6 myasthenic syndrome, congenital, 1b, fast-channel 10.3 CHRNA1 CHRNE
7 multiple pterygium syndrome, lethal type 10.2 CHRNA1 CHRND
8 fetal akinesia deformation sequence 10.2 CHRNA1 CHRND
9 oligohydramnios 10.1 CHRNA1 CHRND
10 myasthenia gravis 10.1 CHRNA1 CHRNE
11 pyuria 9.9 CRP CXCL8
12 cardiac rupture 9.9 CRP CXCL8
13 louse-borne relapsing fever 9.9 CRP CXCL8
14 pharyngitis 9.9 CRP CXCL8
15 septic arthritis 9.9 CRP CXCL8
16 acute cystitis 9.8 CRP CXCL8
17 acute pyelonephritis 9.8 CRP CXCL8
18 wells syndrome 9.8 CRP CXCL8
19 perinatal necrotizing enterocolitis 9.8 CRP CXCL8
20 viral meningitis 9.8 CRP CXCL8
21 pleurisy 9.8 CRP CXCL8
22 uterine anomalies 9.8 CRP CXCL8
23 leptospirosis 9.8 CRP CXCL8
24 brucellosis 9.8 CRP CXCL8
25 pyelonephritis 9.8 CRP CXCL8
26 appendicitis 9.8 CRP CXCL8
27 chorioamnionitis 9.8 CRP CXCL8
28 pulmonary edema 9.8 CRP CXCL8
29 bacterial meningitis 9.8 CRP CXCL8
30 gastroenteritis 9.8 CRP CXCL8
31 endocarditis 9.8 CRP CXCL8
32 autoinflammation, lipodystrophy, and dermatosis syndrome 9.8 CRP CXCL8
33 cystitis 9.8 CRP CXCL8
34 chlamydia 9.7 CRP CXCL8
35 bone inflammation disease 9.7 CRP CXCL8
36 intestinal disease 9.7 CRP CXCL8
37 sleep apnea 9.7 CRP CXCL8
38 multiple pterygium syndrome, escobar variant 9.7 CHRNA1 CHRNB1 CHRND
39 peritonitis 9.7 CRP CXCL8
40 respiratory system disease 9.7 CRP CXCL8
41 synovitis 9.7 CRP CXCL8
42 meningitis 9.7 CRP CXCL8
43 periodontitis 9.6 CRP CXCL8
44 acute pancreatitis 9.6 CRP CXCL8
45 ptosis 9.6 CHRND CHRNE
46 visceral leishmaniasis 9.6 CRP CXCL8
47 gastrointestinal system disease 9.6 CRP CXCL8
48 respiratory failure 9.5 CRP CXCL8
49 wegener granulomatosis 9.5 CRP CXCL8
50 periodontal disease 9.4 CRP CXCL8

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

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

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.74 CHRNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.74 CHRNA1 CHRNB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.74 CRP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.74 CRP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.74 CHRNA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.74 CRP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.74 CHRNA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.74 CHRNA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.74 CHRNB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.74 CHRNB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.74 CHRNA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.74 CHRNA1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.74 CHRNA1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.74 CHRNA1 CHRNB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.74 CHRNA1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.74 CRP
17 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.74 CHRNA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.74 CHRNB1 CRP CHRNA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.74 CHRNA1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.74 CHRNB1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.74 CHRNB1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.74 CHRNA1

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 18)
# 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 )
2014
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
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. ( 12141316 )
2002
13
Hidden afterdischarges in slow channel congenital myasthenic syndrome. ( 19078585 )
2000
14
Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. ( 9546329 )
1998
15
Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome. ( 9668241 )
1998
16
AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome. ( 9668240 )
1998
17
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. ( 9158151 )
1997
18
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

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 9.67 CHRNA1 CHRNB1 CHRND CHRNE
2 cell junction GO:0030054 9.62 CHRNA1 CHRNB1 CHRND CHRNE
3 synapse GO:0045202 9.56 CHRNA1 CHRNB1 CHRND CHRNE
4 neuron projection GO:0043005 9.46 CHRNA1 CHRNB1 CHRND CHRNE
5 postsynaptic membrane GO:0045211 9.26 CHRNA1 CHRNB1 CHRND CHRNE
6 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 18)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.97 CHRNA1 CHRNB1 CHRND CHRNE CXCL8
2 ion transport GO:0006811 9.86 CHRNA1 CHRNB1 CHRND CHRNE
3 ion transmembrane transport GO:0034220 9.81 CHRNA1 CHRNB1 CHRND CHRNE
4 chemical synaptic transmission GO:0007268 9.76 CHRNA1 CHRNB1 CHRND CHRNE
5 muscle contraction GO:0006936 9.72 CHRNB1 CHRND CHRNE
6 cation transport GO:0006812 9.71 CHRNA1 CHRNB1 CHRND
7 regulation of membrane potential GO:0042391 9.71 CHRNA1 CHRNB1 CHRND CHRNE
8 cation transmembrane transport GO:0098655 9.67 CHRNB1 CHRND CHRNE
9 excitatory postsynaptic potential GO:0060079 9.67 CHRNA1 CHRNB1 CHRND CHRNE
10 nervous system process GO:0050877 9.62 CHRNA1 CHRNB1 CHRND CHRNE
11 skeletal muscle contraction GO:0003009 9.61 CHRNA1 CHRNB1 CHRND
12 neuromuscular process GO:0050905 9.57 CHRNA1 CHRND
13 response to nicotine GO:0035094 9.56 CHRNA1 CHRNB1 CHRND CHRNE
14 musculoskeletal movement GO:0050881 9.52 CHRNA1 CHRND
15 skeletal muscle tissue growth GO:0048630 9.48 CHRNA1 CHRND
16 neuromuscular synaptic transmission GO:0007274 9.46 CHRNA1 CHRNB1 CHRND CHRNE
17 regulation of postsynaptic membrane potential GO:0060078 9.26 CHRNA1 CHRNB1 CHRND CHRNE
18 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 9.67 CHRNA1 CHRNB1 CHRND CHRNE
2 extracellular ligand-gated ion channel activity GO:0005230 9.62 CHRNA1 CHRNB1 CHRND CHRNE
3 transmembrane signaling receptor activity GO:0004888 9.58 CHRNA1 CHRNB1 CHRND
4 ligand-gated ion channel activity GO:0015276 9.56 CHRNA1 CHRNB1 CHRND CHRNE
5 acetylcholine binding GO:0042166 9.46 CHRNA1 CHRNB1 CHRND CHRNE
6 acetylcholine-gated cation-selective channel activity GO:0022848 9.26 CHRNA1 CHRNB1 CHRND CHRNE
7 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
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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