MCID: SLW003
MIFTS: 36

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 45
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel 45 65
Slow Channel Congenital Myasthenic Syndrome 45 24
Sccms 45 47
Myasthenic Syndromes, Congenital, Slow Channel 65
 
Myasthenic Syndrome, Congenital, Slow-Channel 45
Myasthenic Syndrome, Congenital, Type Iia 45
Cms Iia 45
Cms2a 45

Classifications:



External Ids:

UMLS65 C2931107, C0751885

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 ophthalmoparesisand 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 Postsynaptic nicotinic acetylcholine receptors and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include heart, spinal cord and liver.

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 59)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 1a, slow-channel32.9CHRNA1, CHRND
2myasthenic syndrome, congenital, 3a, slow-channel30.8CHRNB1, CHRND
3congenital myasthenic syndrome10.7
4myasthenic syndrome, congenital, 4b, fast-channel10.4CHRNB1, CHRNE
5myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency10.4CHRNB1, CHRNE
6epileptic encephalopathy, early infantile, 2510.4CHRNB1, CHRNE
7myasthenic syndrome, congenital, 4a, slow-channel10.3
8myasthenic syndrome, congenital, 2a, slow-channel10.3
9myasthenic syndrome, congenital, 3b, fast-channel10.3CHRNB1, CHRND
10myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency10.3CHRNB1, CHRND
11myasthenic syndrome, congenital, 1b, fast-channel10.2CHRNA1, CHRND
12schimke immunoosseous dysplasia10.2CHRNA1, CHRND
13specific bursitis often of occupational origin10.2CHRNA1, CHRND
14mycosis fungoides10.0CHRNA1, CHRNE
15thrombophlebitis migrans10.0CRP, CXCL8
16desquamative interstitial pneumonia10.0CRP, CXCL8
17chondromalacia9.9CRP, CXCL8
18wells-jankovic syndrome9.9CRP, CXCL8
19narcissistic personality disorder9.9CRP, CXCL8
20scrotum squamous cell carcinoma9.9CRP, CXCL8
21endocarditis9.9CRP, CXCL8
22gonadal disease9.9CRP, CXCL8
23aggressive digital papillary adenocarcinoma9.9CRP, CXCL8
24alcoholic gastritis9.9CRP, CXCL8
25cutaneous paget's disease9.9CRP, CXCL8
26bardet-biedl syndrome 89.9CRP, CXCL8
27villoglandular variant cervical mucinous adenocarcinoma9.9CRP, CXCL8
28leech infestation9.9CRP, CXCL8
29xanthogranulomatous pyelonephritis9.9CRP, CXCL8
30motion sickness9.9CRP, CXCL8
31funisitis9.9CRP, CXCL8
32hypoglycemic coma9.9CRP, CXCL8
33subclavian steal syndrome9.9CRP, CXCL8
34pneumoconiosis9.9CRP, CXCL8
35viral gastritis9.9CRP, CXCL8
36periampullary adenoma9.9CRP, CXCL8
37glycoproteinosis9.8CRP, CXCL8
38multiple pterygium syndrome, lethal type9.8CHRNA1, CHRNB1, CHRND
39reactive arthritis9.8CRP, CXCL8
40oculoauricular syndrome9.8CHRNA1, CHRNB1, CHRND
41liver leiomyosarcoma9.8CRP, CXCL8
42obstructive sleep apnea9.8CRP, CXCL8
43chronic cystitis9.8CRP, CXCL8
44diffuse scleroderma9.8CRP, CXCL8
45clear cell squamous cell skin carcinoma9.8CRP, CXCL8
46malignant giant cell tumor of the tendon sheath9.8CRP, CXCL8
47uterine corpus epithelioid leiomyosarcoma9.8CRP, CXCL8
48heart disease9.7CRP, CXCL8
49mononeuritis of lower limb9.7CRP, CXCL8
50rectum signet ring adenocarcinoma9.6CRP, CXCL8

Graphical network of the top 20 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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Anatomical Context for Slow-Channel Congenital Myasthenic Syndrome

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

33
Heart, Spinal cord, Liver, Breast, Skin, Myeloid, Ovary

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cation transportGO:00068129.9CHRNA1, CHRND
2synaptic transmissionGO:00072689.6CHRNA1, CHRND
3muscle contractionGO:00069369.3CHRNB1, CHRND, CHRNE
4ion transportGO:00068119.2CHRNA1, CHRND, CHRNE
5transportGO:00068109.1CHRNA1, CHRNB1, CHRND
6neuromuscular synaptic transmissionGO:00072749.0CHRNA1, CHRNB1, CHRND, CHRNE
7cation transmembrane transportGO:00986558.7CHRNA1, CHRNB1, CHRND, CHRNE
8synaptic transmission, cholinergicGO:00072718.7CHRNA1, CHRNB1, CHRND, CHRNE
9signal transductionGO:00071657.9CHRNA1, CHRNB1, CHRND, CHRNE, CXCL8

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

idNameGO IDScoreTop Affiliating Genes
1extracellular ligand-gated ion channel activityGO:00052309.0CHRNA1, CHRNB1, CHRND
2acetylcholine receptor activityGO:00154648.4CHRNA1, CHRNB1, CHRND, CHRNE

Sources for Slow-Channel Congenital Myasthenic Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet