MCID: SLW003
MIFTS: 34

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 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, 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 Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Nanog in Mammalian ESC Pluripotency. 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 68)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 1a, slow-channel33.0CHRNA1, CHRND
2myasthenic syndrome, congenital, 3a, slow-channel32.1CHRNB1, CHRND
3myasthenic syndrome, congenital, 4a, slow-channel11.2
4myasthenic syndrome, congenital, 2a, slow-channel11.2
5congenital myasthenic syndrome10.6
6myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency10.3CHRNB1, CHRNE
7epileptic encephalopathy, early infantile, 2510.3CHRNB1, CHRNE
8mitochondrial complex iii deficiency, nuclear type 210.3CHRNB1, CHRNE
9myasthenic syndrome, congenital, 3b, fast-channel10.2CHRNB1, CHRND
10myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency10.2CHRNB1, CHRND
11myasthenic syndrome, congenital, 1b, fast-channel10.2CHRNA1, CHRND
12plica syndrome10.2CHRNA1, CHRND
13myelofibrosis10.1CHRNA1, CHRNE
14protozoal dysentery9.9CRP, CXCL8
15cardiocranial syndrome9.9CRP, CXCL8
16gastric hemangioma9.9CRP, CXCL8
17paraneoplastic polyneuropathy9.9CRP, CXCL8
18mechanical lagophthalmos9.9CRP, CXCL8
19scrotum melanoma9.9CRP, CXCL8
20oral candidiasis9.9CRP, CXCL8
21gallbladder lymphoma9.9CRP, CXCL8
229.9CRP, CXCL8
23louping ill9.9CRP, CXCL8
24cervix erosion9.9CRP, CXCL8
25bardet-biedl syndrome 89.9CRP, CXCL8
26intestinal variant cervical mucinous adenocarcinoma9.9CRP, CXCL8
27alopecia9.9CRP, CXCL8
28neonatal period electroclinical syndrome9.9CRP, CXCL8
29esophagus melanoma9.9CRP, CXCL8
30spondylolysis9.9CRP, CXCL8
31diphtheria9.9CRP, CXCL8
32extrahepatic cholestasis9.9CRP, CXCL8
33mononeuritis of lower limb9.9CRP, CXCL8
34vertebrobasilar insufficiency9.9CRP, CXCL8
35inner ear disease9.9CRP, CXCL8
36kidney hypertrophy9.9CRP, CXCL8
37lymphopenia9.9CRP, CXCL8
38spinal canal and spinal cord meningioma9.9CRP, CXCL8
39mandibular cancer9.9CRP, CXCL8
40diabetic encephalopathy9.9CRP, CXCL8
41mixed mineral dust pneumoconiosis9.9CRP, CXCL8
42malignant giant cell tumor9.8CRP, CXCL8
43hemorrhagic fever with renal syndrome9.8CRP, CXCL8
44heart septal defect9.8CRP, CXCL8
45multiple pterygium syndrome, lethal type9.8CHRNA1, CHRNB1, CHRND
46oculoauricular syndrome9.8CHRNA1, CHRNB1, CHRND
47xanthomatosis9.8CRP, CXCL8
48rectum leiomyosarcoma9.8CRP, CXCL8
49cryoglobulinemia9.8CRP, CXCL8
50atypical follicular adenoma9.8CRP, 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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UMLS symptoms related to Slow-Channel Congenital Myasthenic Syndrome:


ophthalmoparesis

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-358.8CHRNA1, 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
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. (23688972)
2013
4
Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. (23281026)
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:00452118.5CHRNA1, 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
1musculoskeletal movementGO:005088110.2CHRNA1, CHRND
2neuromuscular processGO:005090510.2CHRNA1, CHRND
3skeletal muscle tissue growthGO:004863010.1CHRNA1, CHRND
4cation transportGO:00068129.8CHRNA1, CHRNB1, CHRND
5muscle contractionGO:00069369.7CHRNB1, CHRND, CHRNE
6response to nicotineGO:00350949.7CHRNA1, CHRND, CHRNE
7cation transmembrane transportGO:00986559.2CHRNA1, CHRNB1, CHRND, CHRNE
8chemical synaptic transmission, postsynapticGO:00995659.2CHRNA1, CHRNB1, CHRND, CHRNE
9neuromuscular synaptic transmissionGO:00072749.2CHRNA1, CHRNB1, CHRND, CHRNE
10regulation of membrane potentialGO:00423919.2CHRNA1, CHRNB1, CHRND, CHRNE
11skeletal muscle contractionGO:00030099.2CHRNA1, CHRNB1, CHRND, CHRNE
12synaptic transmission, cholinergicGO:00072719.2CHRNA1, CHRNB1, CHRND, CHRNE
13transportGO:00068108.9CHRNA1, CHRND, CHRNE
14signal transductionGO:00071658.7CHRNA1, CHRNB1, CHRND, CHRNE, CXCL8

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine bindingGO:00421669.0CHRNA1, CHRNB1, CHRND, CHRNE
2acetylcholine receptor activityGO:00154648.9CHRNA1, CHRNB1, CHRND, CHRNE
3acetylcholine-activated cation-selective channel activityGO:00048898.9CHRNA1, CHRNB1, CHRND, CHRNE
4ligand-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