MCID: MYS040
MIFTS: 40

Myasthenic Syndrome, Slow-Channel Congenital malady

Genetic diseases, Rare diseases categories

Summaries for Myasthenic Syndrome, Slow-Channel Congenital

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OMIM:47 Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction that can be classified by the site... (601462) more...

MalaCards based summary: Myasthenic Syndrome, Slow-Channel Congenital, also known as myasthenic syndrome, congenital, slow-channel, is related to congenital myasthenic syndrome and myasthenic syndrome, fast-channel congenital, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and ptosis. An important gene associated with Myasthenic Syndrome, Slow-Channel Congenital is CHRND (cholinergic receptor, nicotinic, delta (muscle)), and among its related pathways are AMPK Enzyme Complex Pathway and Translation Insulin regulation of translation. The compounds acetylcholine and galantamine have been mentioned in the context of this disorder.

Aliases & Classifications for Myasthenic Syndrome, Slow-Channel Congenital

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 45Novoseek, 24GTR
See all sources

Myasthenic Syndrome, Slow-Channel Congenital, Aliases & Descriptions:

Name: Myasthenic Syndrome, Slow-Channel Congenital 47 11
Myasthenic Syndrome, Congenital, Slow-Channel 47 43
Slow Channel Congenital Myasthenic Syndrome 43 24
Sccms 43 45
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel 43
 
Slow-Channel Congenital Myasthenic Syndrome 43
Myasthenic Syndrome, Congenital, Type Iia 43
Cms Iia 43
Cms2a 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


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OMIM47 601462

Related Diseases for Myasthenic Syndrome, Slow-Channel Congenital

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

idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome31.5CHRNA1
2myasthenic syndrome, fast-channel congenital30.1CHRNE, CHRNA1, CHRND
3nicotine dependence, protection against10.0CHRNB1
4multiple pterygium syndrome, lethal type10.0CHRND, CHRNA1
5myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency10.0CHRNB1, CHRNE
6neuropathy9.9CHRND, CHRNE, CHRNB1
7myopathy9.9CHRND, CHRNE, CHRNB1

Graphical network of diseases related to Myasthenic Syndrome, Slow-Channel Congenital:



Diseases related to myasthenic syndrome, slow-channel congenital

Symptoms for Myasthenic Syndrome, Slow-Channel Congenital

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Symptoms by clinical synopsis from OMIM:

601462

Clinical features from OMIM:

601462

HPO human phenotypes related to Myasthenic Syndrome, Slow-Channel Congenital:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 ptosis HP:0000508
4 ophthalmoparesis HP:0000597
5 dysarthria HP:0001260
6 dysphagia HP:0002015
7 generalized muscle weakness HP:0003324
8 prolonged miniature endplate currents HP:0003436
9 decreased size of nerve terminals HP:0003443
10 fatigable weakness HP:0003473
11 type 2 muscle fiber atrophy HP:0003554
12 onset HP:0003674
13 intermittent episodes of respiratory insufficiency due to muscle weakness HP:0004889

Drugs & Therapeutics for Myasthenic Syndrome, Slow-Channel Congenital

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Drug clinical trials:

Search ClinicalTrials for Myasthenic Syndrome, Slow-Channel Congenital

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

Genetic Tests for Myasthenic Syndrome, Slow-Channel Congenital

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Genetic tests related to Myasthenic Syndrome, Slow-Channel Congenital:

id Genetic test Affiliating Genes
1 Myasthenic Syndrome, Slow-Channel Congenital24

Anatomical Context for Myasthenic Syndrome, Slow-Channel Congenital

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

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Publications for Myasthenic Syndrome, Slow-Channel Congenital

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Variations for Myasthenic Syndrome, Slow-Channel Congenital

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UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Slow-Channel Congenital:

64 (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

Clinvar genetic disease variations for Myasthenic Syndrome, Slow-Channel Congenital:

7 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1CHRNA1NM_001039523.2(CHRNA1): c.812C> A (p.Ser271Tyr)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
2CHRNA1NM_001039523.2(CHRNA1): c.812C> T (p.Ser271Phe)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
3NM_000080.3(CHRNE): c.850A> C (p.Thr284Pro)single nucleotide variantPathogenicrs121909510GRCh37Chr 17, 4804155: 4804155
4NM_000080.3(CHRNE): c.865C> T (p.Leu289Phe)single nucleotide variantPathogenicrs121909511GRCh37Chr 17, 4804140: 4804140
5NM_000080.3(CHRNE): c.721C> T (p.Leu241Phe)single nucleotide variantPathogenicrs28999110GRCh37Chr 17, 4804366: 4804366
6CHRNDNM_000751.2(CHRND): c.866C> T (p.Ser289Phe)single nucleotide variantPathogenicrs121909502GRCh37Chr 2, 233396107: 233396107
7CHRNB1NM_000747.2(CHRNB1): c.865G> A (p.Val289Met)single nucleotide variantPathogenicrs137852810GRCh37Chr 17, 7357660: 7357660
8CHRNB1NM_000747.2(CHRNB1): c.853C> A (p.Leu285Met)single nucleotide variantPathogenicrs137852811GRCh37Chr 17, 7357648: 7357648
9CHRNA1NM_001039523.2(CHRNA1): c.786C> G (p.Asn262Lys)single nucleotide variantPathogenicrs137852798GRCh37Chr 2, 175618298: 175618298
10CHRNA1NM_001039523.2(CHRNA1): c.601G> A (p.Val201Met)single nucleotide variantPathogenicrs137852799GRCh37Chr 2, 175618961: 175618961
11CHRNA1NM_001039523.2(CHRNA1): c.896C> T (p.Thr299Ile)single nucleotide variantPathogenicrs137852800GRCh37Chr 2, 175614855: 175614855
12CHRNA1NM_001039523.2(CHRNA1): c.592G> A (p.Gly198Ser)single nucleotide variantPathogenicrs137852801GRCh37Chr 2, 175618970: 175618970
13CHRNA1NM_001039523.2(CHRNA1): c.941G> T (p.Ser314Ile)single nucleotide variantPathogenicrs137852802GRCh37Chr 2, 175614810: 175614810
14CHRNA1NM_001039523.2(CHRNA1): c.880G> T (p.Val294Phe)single nucleotide variantPathogenicrs137852803GRCh37Chr 2, 175614871: 175614871
15CHRNA1NM_001039523.2(CHRNA1): c.1389C> G (p.Cys463Trp)single nucleotide variantPathogenicrs137852808GRCh37Chr 2, 175612912: 175612912

Expression for genes affiliated with Myasthenic Syndrome, Slow-Channel Congenital

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

Pathways for genes affiliated with Myasthenic Syndrome, Slow-Channel Congenital

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Pathways related to Myasthenic Syndrome, Slow-Channel Congenital according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3CHRNA1, CHRNB1
2
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.0CHRNA1, CHRNE
3
Show member pathways
8.5CHRND, CHRNA1, CHRNE
4
Show member pathways
8.5CHRNE, CHRNA1, CHRND
5
Show member pathways
8.5CHRNE, CHRNA1, CHRND
6
Show member pathways
8.0CHRNB1, CHRNE, CHRNA1, CHRND
7
Show member pathways
8.0CHRND, CHRNA1, CHRNE, CHRNB1
88.0CHRND, CHRNA1, CHRNE, CHRNB1

Compounds for genes affiliated with Myasthenic Syndrome, Slow-Channel Congenital

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Sources:
45Novoseek, 51PharmGKB, 30IUPHAR, 26HMDB, 13DrugBank
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Compounds related to Myasthenic Syndrome, Slow-Channel Congenital according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine45 51 30 26 1313.3CHRND, CHRNA1
2galantamine45 51 139.7CHRND, CHRNA1, CHRNE, CHRNB1

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

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Cellular components related to Myasthenic Syndrome, Slow-Channel Congenital according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:00300548.0CHRND, CHRNA1, CHRNE, CHRNB1
2acetylcholine-gated channel complexGO:00058927.9CHRND, CHRNA1, CHRNE, CHRNB1
3postsynaptic membraneGO:00452117.7CHRNB1, CHRNE, CHRNA1, CHRND

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue growthGO:00486309.6CHRNA1, CHRND
2musculoskeletal movementGO:00508819.5CHRND, CHRNA1
3neuromuscular synaptic transmissionGO:00072749.4CHRNA1, CHRNB1
4neuromuscular processGO:00509059.4CHRND, CHRNA1
5ion transmembrane transportGO:00342209.3CHRNA1, CHRNB1
6synaptic transmission, cholinergicGO:00072719.1CHRNE, CHRNB1
7muscle contractionGO:00069368.8CHRND, CHRNE, CHRNB1
8transportGO:00068108.4CHRNE, CHRNA1, CHRND
9cation transportGO:00068128.2CHRND, CHRNA1, CHRNE, CHRNB1
10regulation of membrane potentialGO:00423918.2CHRND, CHRNA1, CHRNE, CHRNB1
11synaptic transmissionGO:00072688.2CHRND, CHRNA1, CHRNE
12signal transductionGO:00071658.1CHRNB1, CHRNE, CHRNA1, CHRND

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine bindingGO:00421668.5CHRNB1, CHRNA1, CHRND
2acetylcholine receptor activityGO:00154648.5CHRNA1, CHRNE, CHRNB1
3acetylcholine-activated cation-selective channel activityGO:00048897.9CHRND, CHRNA1, CHRNE, CHRNB1

Products for genes affiliated with Myasthenic Syndrome, Slow-Channel Congenital

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Sources for Myasthenic Syndrome, Slow-Channel Congenital

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet