MCID: SLW003
MIFTS: 33

Slow-Channel Congenital Myasthenic Syndrome

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Slow-Channel Congenital Myasthenic Syndrome

MalaCards integrated aliases for Slow-Channel Congenital Myasthenic Syndrome:

Name: Slow-Channel Congenital Myasthenic Syndrome 49
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel 49 69
Myasthenic Syndrome, Slow-Channel Congenital 28 13
Sccms 49 51
Myasthenic Syndromes, Congenital, Slow Channel 69
Myasthenic Syndrome, Congenital, Slow-Channel 49
Slow Channel Congenital Myasthenic Syndrome 49
Myasthenic Syndrome, Congenital, Type Iia 49
Cms Iia 49
Cms2a 49

Classifications:



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Summaries for Slow-Channel Congenital Myasthenic Syndrome

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Congenital myasthenic syndrome.

MalaCards based summary : Slow-Channel Congenital Myasthenic Syndrome, also known as myasthenic syndrome, congenital, postsynaptic slow-channel, is related to myasthenic syndrome, congenital, 1a, slow-channel and congenital myasthenic syndrome. 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 myasthenic syndrome, congenital, 1a, slow-channel 33.3 CHRNA1 CHRNB1
2 congenital myasthenic syndrome 30.1 CHRNA1 CHRNB1 CHRND CHRNE
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 10.2 CHRNA1 CHRNE
7 multiple pterygium syndrome, lethal type 10.1 CHRNA1 CHRND
8 oligohydramnios 10.1 CHRNA1 CHRND
9 fetal akinesia deformation sequence 10.1 CHRNA1 CHRND
10 myasthenia gravis 10.0 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 septic arthritis 9.9 CRP CXCL8
15 acute cystitis 9.9 CRP CXCL8
16 pharyngitis 9.9 CRP CXCL8
17 wells syndrome 9.9 CRP CXCL8
18 acute pyelonephritis 9.9 CRP CXCL8
19 perinatal necrotizing enterocolitis 9.9 CRP CXCL8
20 viral meningitis 9.9 CRP CXCL8
21 pleurisy 9.9 CRP CXCL8
22 uterine anomalies 9.9 CRP CXCL8
23 leptospirosis 9.9 CRP CXCL8
24 pulmonary disease, chronic obstructive 9.9 CRP CXCL8
25 brucellosis 9.9 CRP CXCL8
26 pyelonephritis 9.9 CRP CXCL8
27 appendicitis 9.9 CRP CXCL8
28 chorioamnionitis 9.9 CRP CXCL8
29 carotid stenosis 9.9 CRP CXCL8
30 pulmonary edema 9.9 CRP CXCL8
31 bacterial meningitis 9.8 CRP CXCL8
32 endocarditis 9.8 CRP CXCL8
33 gastroenteritis 9.8 CRP CXCL8
34 autoinflammation, lipodystrophy, and dermatosis syndrome 9.8 CRP CXCL8
35 cystitis 9.8 CRP CXCL8
36 bone inflammation disease 9.8 CRP CXCL8
37 chlamydia 9.8 CRP CXCL8
38 sleep apnea 9.8 CRP CXCL8
39 intestinal disease 9.8 CRP CXCL8
40 peritonitis 9.8 CRP CXCL8
41 respiratory system disease 9.8 CRP CXCL8
42 synovitis 9.8 CRP CXCL8
43 meningitis 9.8 CRP CXCL8
44 periodontitis 9.7 CRP CXCL8
45 acute pancreatitis 9.7 CRP CXCL8
46 visceral leishmaniasis 9.7 CRP CXCL8
47 gastrointestinal system disease 9.7 CRP CXCL8
48 respiratory failure 9.6 CRP CXCL8
49 wegener granulomatosis 9.6 CRP CXCL8
50 periodontal disease 9.5 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:

25 (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 CHRNA1 CHRNB1 CRP
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 28 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
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. ( 23688972 )
2013
4
Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. ( 23281026 )
2013
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: Correction. ( 22406191 )
2012
7
A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR I/L221F mutation. ( 22178625 )
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
Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome. ( 9668241 )
1998
15
Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. ( 9546329 )
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
# 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.601G> A (p.Val201Met) single nucleotide variant Pathogenic rs137852799 GRCh37 Chromosome 2, 175618961: 175618961
3 CHRNA1 NM_001039523.2(CHRNA1): c.896C> T (p.Thr299Ile) single nucleotide variant Pathogenic rs137852800 GRCh37 Chromosome 2, 175614855: 175614855
4 CHRNA1 NM_000079.3(CHRNA1): c.517G> A (p.Gly173Ser) single nucleotide variant Pathogenic rs137852801 GRCh37 Chromosome 2, 175618970: 175618970
5 CHRNA1 NM_001039523.2(CHRNA1): c.941G> T (p.Ser314Ile) single nucleotide variant Pathogenic rs137852802 GRCh37 Chromosome 2, 175614810: 175614810
6 CHRNA1 NM_001039523.2(CHRNA1): c.880G> T (p.Val294Phe) single nucleotide variant Pathogenic rs137852803 GRCh37 Chromosome 2, 175614871: 175614871
7 CHRNA1 NM_001039523.2(CHRNA1): c.1389C> G (p.Cys463Trp) single nucleotide variant Pathogenic rs137852808 GRCh37 Chromosome 2, 175612912: 175612912
8 CHRNA1 NM_000079.3(CHRNA1): c.737C> A (p.Ser246Tyr) single nucleotide variant Pathogenic rs483353046 GRCh37 Chromosome 2, 175618272: 175618272
9 CHRNA1 NM_000079.3(CHRNA1): c.737C> T (p.Ser246Phe) single nucleotide variant Pathogenic rs483353046 GRCh37 Chromosome 2, 175618272: 175618272

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 cell junction GO:0030054 9.56 CHRNA1 CHRNB1 CHRND CHRNE
2 synapse GO:0045202 9.46 CHRNA1 CHRNB1 CHRND CHRNE
3 postsynaptic membrane GO:0045211 9.26 CHRNA1 CHRNB1 CHRND CHRNE
4 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 9.97 CHRNA1 CHRNB1 CHRND CHRNE CXCL8
2 ion transport GO:0006811 9.85 CHRNA1 CHRNB1 CHRND CHRNE
3 transmembrane transport GO:0055085 9.84 CHRNA1 CHRNB1 CHRND CHRNE
4 ion transmembrane transport GO:0034220 9.73 CHRNA1 CHRNB1 CHRND CHRNE
5 muscle contraction GO:0006936 9.7 CHRNB1 CHRND CHRNE
6 cation transmembrane transport GO:0098655 9.69 CHRNB1 CHRND CHRNE
7 cation transport GO:0006812 9.67 CHRNA1 CHRNB1 CHRND
8 regulation of membrane potential GO:0042391 9.62 CHRNA1 CHRNB1 CHRND CHRNE
9 response to nicotine GO:0035094 9.58 CHRNA1 CHRND CHRNE
10 neuromuscular process GO:0050905 9.56 CHRNA1 CHRND
11 excitatory postsynaptic potential GO:0060079 9.56 CHRNA1 CHRNB1 CHRND CHRNE
12 skeletal muscle contraction GO:0003009 9.54 CHRNA1 CHRNB1 CHRND
13 musculoskeletal movement GO:0050881 9.48 CHRNA1 CHRND
14 skeletal muscle tissue growth GO:0048630 9.46 CHRNA1 CHRND
15 regulation of postsynaptic membrane potential GO:0060078 9.46 CHRNA1 CHRNB1 CHRND CHRNE
16 synaptic transmission, cholinergic GO:0007271 9.26 CHRNA1 CHRNB1 CHRND CHRNE
17 neuromuscular synaptic transmission GO:0007274 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 extracellular ligand-gated ion channel activity GO:0005230 9.56 CHRNA1 CHRNB1 CHRND CHRNE
2 ion channel activity GO:0005216 9.54 CHRNA1 CHRNB1 CHRND
3 acetylcholine receptor activity GO:0015464 9.5 CHRNA1 CHRNB1 CHRNE
4 ligand-gated ion channel activity GO:0015276 9.46 CHRNA1 CHRNB1 CHRND CHRNE
5 acetylcholine binding GO:0042166 9.26 CHRNA1 CHRNB1 CHRND CHRNE
6 acetylcholine-gated cation-selective channel activity GO:0022848 8.92 CHRNA1 CHRNB1 CHRND CHRNE

Sources for Slow-Channel Congenital Myasthenic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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