SCCMS
MCID: SLW003
MIFTS: 33

Slow-Channel Congenital Myasthenic Syndrome (SCCMS) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Slow-Channel Congenital Myasthenic Syndrome

Aliases & Descriptions for Slow-Channel Congenital Myasthenic Syndrome:

Name: Slow-Channel Congenital Myasthenic Syndrome 50
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel 50 69
Slow Channel Congenital Myasthenic Syndrome 50 29
Sccms 50 52
Myasthenic Syndromes, Congenital, Slow Channel 69
Myasthenic Syndrome, Congenital, Slow-Channel 50
Myasthenic Syndrome, Slow-Channel Congenital 13
Myasthenic Syndrome, Congenital, Type Iia 50
Cms Iia 50
Cms2a 50

Classifications:



Summaries for Slow-Channel 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 myasthenic syndrome, congenital, 3a, slow-channel. An important gene associated with Slow-Channel Congenital Myasthenic Syndrome is CHRNB1 (Cholinergic Receptor Nicotinic Beta 1 Subunit), and among its related pathways/superpathways are Peptide ligand-binding receptors and Nanog in Mammalian ESC Pluripotency. Related phenotype is 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, 3a, Slow-Channel
Myasthenic Syndrome, Congenital, 4a, Slow-Channel Myasthenic Syndrome, Congenital, 2a, 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 52)
id Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 1a, slow-channel 11.9
2 myasthenic syndrome, congenital, 3a, slow-channel 11.9
3 myasthenic syndrome, congenital, 4a, slow-channel 11.9
4 myasthenic syndrome, congenital, 2a, slow-channel 11.2
5 congenital myasthenic syndrome 10.6
6 multiple pterygium syndrome, lethal type 10.1 CHRNA1 CHRNE
7 mesomelic dysplasia, kantaputra type 10.1 CHRNA1 CHRND
8 cascade stomach 10.1 CHRNA1 CHRND
9 tooth agenesis, selective, 1, with or without orofacial cleft 10.1 CHRNA1 CHRND
10 neonatal stroke 10.0 CHRNA1 CHRNE
11 capillary leak syndrome 10.0 CRP CXCL8
12 cardiomyopathy diabetes deafness 10.0 CRP CXCL8
13 cicatricial lagophthalmos 10.0 CRP CXCL8
14 hidradenitis 10.0 CRP CXCL8
15 appendiceal l-cell glucagon-like peptide producing tumor 10.0 CRP CXCL8
16 fallopian tube serous adenocarcinoma 10.0 CRP CXCL8
17 neuropathy 10.0 CRP CXCL8
18 mixed mineral dust pneumoconiosis 10.0 CRP CXCL8
19 wilkes stevenson syndrome 10.0 CRP CXCL8
20 strawberry gallbladder 10.0 CRP CXCL8
21 allergic bronchopulmonary aspergillosis 10.0 CRP CXCL8
22 atrophy of prostate 10.0 CRP CXCL8
23 myiasis 10.0 CRP CXCL8
24 blepharochalasis 10.0 CRP CXCL8
25 chordoid meningioma 10.0 CRP CXCL8
26 choroiditis 10.0 CRP CXCL8
27 retinitis pigmentosa 51 10.0 CRP CXCL8
28 infancy electroclinical syndrome 10.0 CRP CXCL8
29 intra-abdominal lymph node mast cell malignancy 10.0 CRP CXCL8
30 amelogenesis imperfecta 10.0 CRP CXCL8
31 unilateral hypoactive labyrinth 10.0 CRP CXCL8
32 pyelonephritis 10.0 CRP CXCL8
33 colon adenocarcinoma 10.0 CRP CXCL8
34 asbestosis 10.0 CRP CXCL8
35 limb ischemia 9.9 CRP CXCL8
36 keratomalacia 9.9 CRP CXCL8
37 diabetic encephalopathy 9.9 CRP CXCL8
38 neovascular glaucoma 9.9 CRP CXCL8
39 sclerosing adenosis of breast 9.9 CRP CXCL8
40 synovium cancer 9.9 CRP CXCL8
41 bare lymphocyte syndrome, type i 9.9 CRP CXCL8
42 uterine ligament clear cell adenocarcinoma 9.9 CRP CXCL8
43 bone angioendothelial sarcoma 9.9 CRP CXCL8
44 pulmonary eosinophilia 9.8 CRP CXCL8
45 histiocytosis 9.8 CRP CXCL8
46 lacrimal system cancer 9.8 CRP CXCL8
47 inverse marcus-gunn phenomenon 9.7 CHRNA1 CHRNB1 CHRND CHRNE
48 snowflake vitreoretinal degeneration 9.7 CHRNA1 CHRNB1 CHRND CHRNE
49 acneiform dermatitis 9.7 CHRNA1 CHRNB1 CHRND CHRNE
50 acute chest syndrome 9.7 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
id 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:

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

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)
id 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
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship: Correction. ( 22406191 )
2012
7
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. ( 21822932 )
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
AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome. ( 9668240 )
1998
15
Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome. ( 9668241 )
1998
16
Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. ( 9546329 )
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
id 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_001039523.2(CHRNA1): c.592G> A (p.Gly198Ser) 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

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 CHRNA1 CHRNB1 CHRND CHRNE CXCL8
2
Show member pathways
12.67 CHRNA1 CHRNB1 CHRND CHRNE
3
Show member pathways
11.06 CHRNA1 CHRND CHRNE
4 10.43 CRP CXCL8
5 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:

id 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 16)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.96 CHRNA1 CHRNB1 CHRND CHRNE CXCL8
2 ion transport GO:0006811 9.84 CHRNA1 CHRNB1 CHRND CHRNE
3 ion transmembrane transport GO:0034220 9.78 CHRNA1 CHRNB1 CHRND CHRNE
4 muscle contraction GO:0006936 9.7 CHRNB1 CHRND CHRNE
5 cation transport GO:0006812 9.67 CHRNA1 CHRNB1 CHRND
6 regulation of membrane potential GO:0042391 9.67 CHRNA1 CHRNB1 CHRND CHRNE
7 cation transmembrane transport GO:0098655 9.62 CHRNA1 CHRNB1 CHRND CHRNE
8 response to nicotine GO:0035094 9.61 CHRNA1 CHRND CHRNE
9 skeletal muscle contraction GO:0003009 9.58 CHRNA1 CHRNB1 CHRND
10 excitatory postsynaptic potential GO:0060079 9.56 CHRNA1 CHRNB1 CHRND CHRNE
11 neuromuscular process GO:0050905 9.55 CHRNA1 CHRND
12 musculoskeletal movement GO:0050881 9.51 CHRNA1 CHRND
13 skeletal muscle tissue growth GO:0048630 9.46 CHRNA1 CHRND
14 regulation of postsynaptic membrane potential GO:0060078 9.46 CHRNA1 CHRNB1 CHRND CHRNE
15 neuromuscular synaptic transmission GO:0007274 9.26 CHRNA1 CHRNB1 CHRND CHRNE
16 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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