MCID: SLW003
MIFTS: 49

Slow-Channel Congenital Myasthenic Syndrome malady

Neuronal diseases, Eye diseases categories

Summaries for Slow-Channel Congenital Myasthenic Syndrome

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46OMIM, 32MalaCards
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MalaCards: Slow-Channel Congenital Myasthenic Syndrome, also known as myasthenic syndrome, congenital, postsynaptic slow-channel, is related to congenital myasthenic syndrome and nicotine dependence. An important gene associated with Slow-Channel Congenital Myasthenic Syndrome is CHRNB1 (cholinergic receptor, nicotinic, beta 1 (muscle)), and among its related pathways are Presynaptic nicotinic acetylcholine receptors and Transmission across Chemical Synapses. The compounds succinylcholine and alpha-bungarotoxin have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are muscle and respiratory system.

Description from OMIM:46 601462,608930,608931,614198,254300

Aliases & Classifications for Slow-Channel Congenital Myasthenic Syndrome

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42NIH Rare Diseases, 60UMLS, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Eye diseases


Aliases & Descriptions:

slow-channel congenital myasthenic syndrome 42
myasthenic syndrome, congenital, postsynaptic slow-channel 42 60
myasthenic syndrome, congenital, slow-channel 42 22
myasthenic syndromes, congenital, slow channel 60
congenital myasthenic syndromes, postsynaptic 60
postsynaptic congenital myasthenic syndromes 48
myasthenic syndrome, slow-channel congenital 46
myasthenic syndrome, congenital, type iia 42
cms iia 42
cms2a 42


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ICD10 via Orphanet26 G70.2

Related Diseases for Slow-Channel Congenital Myasthenic Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Slow-Channel Congenital Myasthenic Syndrome:



Diseases related to slow-channel congenital myasthenic syndrome

Clinical Features for Slow-Channel Congenital Myasthenic Syndrome

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46OMIM
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Clinical features from OMIM:

601462,608930,608931,614198,254300

Clinical synopsis from OMIM:

601462

Drugs & Therapeutics for Slow-Channel Congenital Myasthenic Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Slow-Channel Congenital Myasthenic Syndrome

Drug clinical trials:

Search ClinicalTrials for Slow-Channel Congenital Myasthenic Syndrome

Search NIH Clinical Center for Slow-Channel Congenital Myasthenic Syndrome

Search CenterWatch for Slow-Channel Congenital Myasthenic Syndrome

Genetic Tests for Slow-Channel Congenital Myasthenic Syndrome

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22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Slow-Channel Congenital Myasthenic Syndrome:

32
Eye

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

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36MGI
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MGI Mouse Phenotypes related to Slow-Channel Congenital Myasthenic Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1RAPSN, MUSK, CHRNE, AGRN, SCN4A
2MP:00053887.3DOK7, AGRN, CHRNE, MUSK, LRP4, RAPSN
3MP:00053866.8SCN4A, DOK7, AGRN, CHRNA1, CHRNE, MUSK
4MP:00036316.7RAPSN, DOK7, AGRN, CHRNA1, CHRNB1, CHRNE
5MP:00107686.2SCN4A, DOK7, AGRN, CHRNA1, CHRNE, MUSK

Publications for Slow-Channel Congenital Myasthenic Syndrome

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Genetic Variations for Slow-Channel Congenital Myasthenic Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Slow-Channel Congenital Myasthenic Syndrome:

62 (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

Expression for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 29KEGG, 12EMD Millipore, 51QIAGEN
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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
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9.4CHRNA1, CHRND, CHRNE
2
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9.4CHRNE, CHRND, CHRNA1
3
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9.1CHRNA1, CHRND, CHRNB1, CHRNE
49.1CHRNE, CHRNB1, CHRND, CHRNA1
5
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8.9CHRNA1, CHRND, CHRNE, MUSK
6
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8.9LRP4, MUSK, AGRN
7
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8.9LRP4, MUSK, AGRN
8
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8.6MUSK, CHRNE, CHRNB1, CHRND, CHRNA1
98.6RAPSN, MUSK, CHRNA1, AGRN

Compounds for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

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44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 24HMDB
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Compounds related to Slow-Channel Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1succinylcholine44 28 1111.6SCN4A, CHRNA1
2alpha-bungarotoxin44 5910.6CHRNA1, AGRN
3galantamine44 49 1111.3CHRNE, CHRNB1, CHRND, CHRNA1
4sodium44 249.9RAPSN, AGRN, SCN4A
5nicotine44 49 28 1111.9MUSK, CHRNA1, AGRN
6potassium44 11 2410.7SCN4A, MUSK, RAPSN
7acetylcholine44 49 28 11 2412.3AGRN, CHRNA1, CHRND, MUSK, RAPSN

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

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16Gene Ontology
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Cellular components related to Slow-Channel Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-gated channel complexGO:0058929.1CHRNA1, CHRND, CHRNB1, CHRNE
2integral to plasma membraneGO:0058878.8MUSK, CHRNE, CHRNB1, SCN4A
3neuromuscular junctionGO:0315948.3RAPSN, MUSK, CHRNA1, DOK7
4postsynaptic membraneGO:0452118.3CHRNA1, CHRND, CHRNB1, CHRNE, MUSK, RAPSN
5cell junctionGO:0300546.9RAPSN, DOK7, AGRN, CHRNA1, CHRND, CHRNB1
6plasma membraneGO:0058866.8DOK7, AGRN, CHRNA1, CHRND, CHRNE, LRP4

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue growthGO:04863010.0CHRNA1, CHRND
2musculoskeletal movementGO:05088110.0CHRND, CHRNA1
3neuromuscular synaptic transmissionGO:0072749.9CHRNA1, CHRNB1
4neuromuscular processGO:0509059.9CHRNA1, CHRND
5cation transportGO:0068129.9CHRNE, CHRNB1
6synaptic transmission, cholinergicGO:0072719.7RAPSN, CHRNE, CHRNB1
7transportGO:0068109.4CHRNE, CHRND, CHRNA1
8regulation of membrane potentialGO:0423919.4CHRNE, CHRNB1, CHRND, CHRNA1
9positive regulation of neuron apoptotic processGO:0435259.2RAPSN, MUSK
10muscle contractionGO:0069369.2SCN4A, CHRND, CHRNB1, CHRNE
11synaptic transmissionGO:0072689.2CHRNA1, CHRND, CHRNE, RAPSN
12neuromuscular junction developmentGO:0075289.0MUSK, CHRNA1, DOK7
13receptor clusteringGO:0431138.9DOK7, AGRN, LRP4
14extracellular matrix organizationGO:0301988.8AGRN, MUSK, LRP4
15signal transductionGO:0071658.7CHRNE, CHRNB1, CHRND, CHRNA1, AGRN

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:0154649.5CHRNE, CHRNB1, CHRNA1
2acetylcholine bindingGO:0421669.2CHRNA1, CHRND, CHRNB1
3acetylcholine-activated cation-selective channel activityGO:0048899.0CHRNE, CHRNB1, CHRND, CHRNA1

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet