SCCMS
MCID: SLW003
MIFTS: 33

Slow-Channel Congenital Myasthenic Syndrome (SCCMS) malady

Categories: Genetic diseases, Rare diseases, Neuronal 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 48
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel 48 68
Slow Channel Congenital Myasthenic Syndrome 48 27
Sccms 48 50
Myasthenic Syndromes, Congenital, Slow Channel 68
 
Myasthenic Syndrome, Congenital, Slow-Channel 48
Myasthenic Syndrome, Slow-Channel Congenital 12
Myasthenic Syndrome, Congenital, Type Iia 48
Cms Iia 48
Cms2a 48

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. An important gene associated with Slow-Channel Congenital Myasthenic Syndrome is CHRNB1 (Cholinergic Receptor Nicotinic Beta 1 Subunit), and among its related pathways are Overview of nanoparticle effects and Activation of Nicotinic Acetylcholine Receptors. Related mouse phenotype Increased shRNA abundance (Z-score > 2).

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 top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 1a, slow-channel11.9
2myasthenic syndrome, congenital, 3a, slow-channel11.9
3myasthenic syndrome, congenital, 4a, slow-channel11.9
4myasthenic syndrome, congenital, 2a, slow-channel11.2
5congenital myasthenic syndrome10.6
6multiple pterygium syndrome, lethal type10.1CHRNA1, CHRNE
7mesomelic dysplasia, kantaputra type10.1CHRNA1, CHRND
8cascade stomach10.1CHRNA1, CHRND
9tooth agenesis, selective, 1, with or without orofacial cleft10.1CHRNA1, CHRND
10neonatal stroke10.0CHRNA1, CHRNE
11capillary leak syndrome10.0CRP, CXCL8
12cardiomyopathy diabetes deafness10.0CRP, CXCL8
13cicatricial lagophthalmos10.0CRP, CXCL8
14hidradenitis10.0CRP, CXCL8
15appendiceal l-cell glucagon-like peptide producing tumor10.0CRP, CXCL8
16fallopian tube serous adenocarcinoma10.0CRP, CXCL8
17neuropathy10.0CRP, CXCL8
18mixed mineral dust pneumoconiosis10.0CRP, CXCL8
19wilkes stevenson syndrome10.0CRP, CXCL8
20strawberry gallbladder10.0CRP, CXCL8
21allergic bronchopulmonary aspergillosis10.0CRP, CXCL8
22atrophy of prostate10.0CRP, CXCL8
23myiasis10.0CRP, CXCL8
24blepharochalasis10.0CRP, CXCL8
25chordoid meningioma10.0CRP, CXCL8
26choroiditis10.0CRP, CXCL8
27retinitis pigmentosa 5110.0CRP, CXCL8
28infancy electroclinical syndrome10.0CRP, CXCL8
29intra-abdominal lymph node mast cell malignancy10.0CRP, CXCL8
30amelogenesis imperfecta10.0CRP, CXCL8
31unilateral hypoactive labyrinth10.0CRP, CXCL8
32pyelonephritis10.0CRP, CXCL8
33colon adenocarcinoma10.0CRP, CXCL8
34asbestosis10.0CRP, CXCL8
35limb ischemia9.9CRP, CXCL8
36keratomalacia9.9CRP, CXCL8
37diabetic encephalopathy9.9CRP, CXCL8
38neovascular glaucoma9.9CRP, CXCL8
39sclerosing adenosis of breast9.9CRP, CXCL8
40synovium cancer9.9CRP, CXCL8
41bare lymphocyte syndrome, type i9.9CRP, CXCL8
42uterine ligament clear cell adenocarcinoma9.9CRP, CXCL8
43bone angioendothelial sarcoma9.9CRP, CXCL8
44pulmonary eosinophilia9.8CRP, CXCL8
45histiocytosis9.8CRP, CXCL8
46lacrimal system cancer9.8CRP, CXCL8
47inverse marcus-gunn phenomenon9.7CHRNA1, CHRNB1, CHRND, CHRNE
48snowflake vitreoretinal degeneration9.7CHRNA1, CHRNB1, CHRND, CHRNE
49acneiform dermatitis9.7CHRNA1, CHRNB1, CHRND, CHRNE
50acute chest syndrome9.7CRP, 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

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1928.8CHRNA1, CHRNB1, CRP

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 Congenital27

Anatomical Context for Slow-Channel Congenital Myasthenic Syndrome

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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 18)
idTitleAuthorsYear
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

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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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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:00058929.2CHRNA1, CHRNB1, CHRND, CHRNE
2cell junctionGO:00300549.1CHRNA1, CHRNB1, CHRND, CHRNE
3postsynaptic membraneGO:00452119.1CHRNA1, CHRNB1, CHRND, CHRNE
4synapseGO:00452028.5CHRNA1, CHRNB1, CHRND, CHRNE

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1musculoskeletal movementGO:005088110.1CHRNA1, CHRND
2neuromuscular processGO:005090510.1CHRNA1, CHRND
3skeletal muscle tissue growthGO:00486309.8CHRNA1, CHRND
4cation transportGO:00068129.8CHRNA1, CHRNB1, CHRND
5muscle contractionGO:00069369.7CHRNB1, CHRND, CHRNE
6response to nicotineGO:00350949.6CHRNA1, CHRND, CHRNE
7skeletal muscle contractionGO:00030099.4CHRNA1, CHRNB1, CHRND
8cation transmembrane transportGO:00986559.2CHRNA1, CHRNB1, CHRND, CHRNE
9excitatory postsynaptic potentialGO:00600799.2CHRNA1, CHRNB1, CHRND, CHRNE
10ion transmembrane transportGO:00342209.2CHRNA1, CHRNB1, CHRND, CHRNE
11ion transportGO:00068119.2CHRNA1, CHRNB1, CHRND, CHRNE
12neuromuscular synaptic transmissionGO:00072749.2CHRNA1, CHRNB1, CHRND, CHRNE
13regulation of membrane potentialGO:00423919.2CHRNA1, CHRNB1, CHRND, CHRNE
14regulation of postsynaptic membrane potentialGO:00600789.2CHRNA1, CHRNB1, CHRND, CHRNE
15synaptic transmission, cholinergicGO:00072718.5CHRNA1, CHRNB1, CHRND, CHRNE
16signal transductionGO:00071658.4CHRNA1, CHRNB1, CHRND, CHRNE, CXCL8

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:00154649.7CHRNA1, CHRNB1, CHRNE
2ion channel activityGO:00052169.4CHRNA1, CHRNB1, CHRND
3acetylcholine bindingGO:00421669.1CHRNA1, CHRNB1, CHRND, CHRNE
4acetylcholine-gated cation-selective channel activityGO:00228489.0CHRNA1, CHRNB1, CHRND, CHRNE
5extracellular ligand-gated ion channel activityGO:00052309.0CHRNA1, CHRNB1, CHRND, CHRNE
6ligand-gated ion channel activityGO:00152768.5CHRNA1, CHRNB1, CHRND, CHRNE

Sources for Slow-Channel Congenital Myasthenic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet