MCID: SLW003
MIFTS: 33

Slow-Channel Congenital Myasthenic Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Slow-Channel Congenital Myasthenic Syndrome

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Aliases & Descriptions for Slow-Channel Congenital Myasthenic Syndrome:

Name: Slow-Channel Congenital Myasthenic Syndrome 46
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel 46 66
Slow Channel Congenital Myasthenic Syndrome 46 25
Sccms 46 48
Myasthenic Syndromes, Congenital, Slow Channel 66
 
Myasthenic Syndrome, Congenital, Slow-Channel 46
Myasthenic Syndrome, Slow-Channel Congenital 12
Myasthenic Syndrome, Congenital, Type Iia 46
Cms Iia 46
Cms2a 46

Classifications:



Summaries for Slow-Channel Congenital Myasthenic Syndrome

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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, and has symptoms including ophthalmoparesis and ophthalmoparesis. An important gene associated with Slow-Channel Congenital Myasthenic Syndrome is CHRNB1 (Cholinergic Receptor Nicotinic Beta 1 Subunit), and among its related pathways are AMPK Enzyme Complex Pathway and CREB Pathway.

Related Diseases for Slow-Channel Congenital Myasthenic Syndrome

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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 all 20)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 1a, slow-channel32.4CHRNA1, CHRND
2myasthenic syndrome, congenital, 3a, slow-channel30.2CHRNB1, CHRND
3congenital myasthenic syndrome10.7
4myasthenic syndrome, congenital, 4a, slow-channel10.3
5myasthenic syndrome, congenital, 2a, slow-channel10.3
6myasthenic syndrome, congenital, 3b, fast-channel10.0CHRNB1, CHRND
7myasthenic syndrome, congenital, 1b, fast-channel9.9CHRNA1, CHRND
8myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency9.8CHRNB1, CHRND
9myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency9.7CHRNB1, CHRNE
10epileptic encephalopathy, early infantile, 259.6CHRNB1, CHRNE
11multiple pterygium syndrome, lethal type9.5CHRNA1, CHRNB1, CHRND
12oculoauricular syndrome9.4CHRNA1, CHRNB1, CHRND
13mitochondrial complex iii deficiency, nuclear type 29.4CHRNB1, CHRNE
14myelofibrosis9.4CHRNA1, CHRNE
15plica syndrome9.4CHRNA1, CHRND
16congenital myasthenic syndrome associated with acetylcholine receptor deficiency8.7CHRNA1, CHRNB1, CHRND, CHRNE
17multiple system atrophy, parkinsonian type8.7CHRNA1, CHRNB1, CHRND, CHRNE
18granulomatous dermatitis8.7CHRNA1, CHRNB1, CHRND, CHRNE
19snowflake vitreoretinal degeneration8.7CHRNA1, CHRNB1, CHRND, CHRNE
20spinal cord intramedullary teratoma8.7CHRNA1, CHRNB1, CHRND, CHRNE

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



Diseases related to slow-channel congenital myasthenic syndrome

Symptoms for Slow-Channel Congenital Myasthenic Syndrome

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UMLS symptoms related to Slow-Channel Congenital Myasthenic Syndrome:


ophthalmoparesis

Drugs & Therapeutics for Slow-Channel Congenital Myasthenic Syndrome

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Interventional clinical trials:

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

Genetic Tests for Slow-Channel Congenital Myasthenic Syndrome

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Genetic tests related to Slow-Channel Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Myasthenic Syndrome, Slow-Channel Congenital25

Anatomical Context for Slow-Channel Congenital Myasthenic Syndrome

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

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Publications for Slow-Channel Congenital Myasthenic Syndrome

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Articles related to Slow-Channel Congenital Myasthenic Syndrome:

(show all 17)
idTitleAuthorsYear
1
Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. (25448156)
2014
2
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. (23688972)
2013
3
Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. (23281026)
2013
4
A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR I/L221F mutation. (22178625)
2012
5
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship: Correction. (22406191)
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. (21316238)
2011
8
Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome. (19289485)
2009
9
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. (16621558)
2006
10
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. (12771277)
2003
11
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. (12141316)
2002
12
Hidden afterdischarges in slow channel congenital myasthenic syndrome. (19078585)
2000
13
AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome. (9668240)
1998
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
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. (9158151)
1997
17
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

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Expression for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3CHRNA1, CHRNB1
2
Show member pathways
8.5CHRNA1, CHRND, CHRNE
3
Show member pathways
8.5CHRNA1, CHRND, CHRNE
4
Show member pathways
8.5CHRNA1, CHRND, CHRNE
5
Show member pathways
8.0CHRNA1, CHRNB1, CHRND, CHRNE
6
Show member pathways
8.0CHRNA1, CHRNB1, CHRND, CHRNE
78.0CHRNA1, CHRNB1, CHRND, CHRNE

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

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-gated channel complexGO:00058928.5CHRNA1, CHRNB1, CHRND, CHRNE
2postsynaptic membraneGO:00452118.0CHRNA1, CHRNB1, CHRND, CHRNE
3cell junctionGO:00300548.0CHRNA1, CHRNB1, CHRND, CHRNE

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular processGO:00509059.9CHRNA1, CHRND
2musculoskeletal movementGO:00508819.9CHRNA1, CHRND
3skeletal muscle tissue growthGO:00486309.6CHRNA1, CHRND
4cation transportGO:00068129.3CHRNA1, CHRNB1, CHRND
5transportGO:00068108.8CHRNA1, CHRND, CHRNE
6muscle contractionGO:00069368.8CHRNB1, CHRND, CHRNE
7skeletal muscle contractionGO:00030098.5CHRNA1, CHRNB1, CHRND, CHRNE
8synaptic transmission, cholinergicGO:00072718.5CHRNA1, CHRNB1, CHRND, CHRNE
9cation transmembrane transportGO:00986558.5CHRNA1, CHRNB1, CHRND, CHRNE
10neuromuscular synaptic transmissionGO:00072748.5CHRNA1, CHRNB1, CHRND, CHRNE
11response to nicotineGO:00350948.4CHRNA1, CHRND, CHRNE
12regulation of membrane potentialGO:00423918.2CHRNA1, CHRNB1, CHRND, CHRNE
13signal transductionGO:00071658.0CHRNA1, CHRNB1, CHRND, CHRNE
14chemical synaptic transmission, postsynapticGO:00995657.7CHRNA1, CHRNB1, CHRND, CHRNE

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:00154648.2CHRNA1, CHRNB1, CHRND, CHRNE
2acetylcholine-activated cation-selective channel activityGO:00048898.2CHRNA1, CHRNB1, CHRND, CHRNE
3acetylcholine bindingGO:00421668.1CHRNA1, CHRNB1, CHRND, CHRNE
4ligand-gated ion channel activityGO:00152768.0CHRNA1, CHRNB1, CHRND, CHRNE

Sources for Slow-Channel Congenital Myasthenic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet