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 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. 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 and ovary.

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 79)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 1a, slow-channel33.4CHRNA1, CHRND
2myasthenic syndrome, congenital, 3a, slow-channel31.3CHRNB1, CHRND
3pneumoconiosis30.3CRP, CXCL8
4myasthenic syndrome, congenital, 4a, slow-channel10.7
5myasthenic syndrome, congenital, 2a, slow-channel10.7
6breast cancer10.3
7keratitis10.3
8hypertrophic scars10.3
9cataract10.3
10hematopoietic stem cell transplantation10.3
11hydrocephalus10.3
12leukemia10.3
13oculocutaneous albinism10.3
14porencephaly10.3
15cysticercosis10.3
16choroiditis10.3
17pure red-cell aplasia10.3
18frozen shoulder10.3
19ovarian cancer10.3
20prosopagnosia10.3
21neuronitis10.3
22myeloid leukemia10.3
23interstitial keratitis10.3
24albinism10.3
25glossodynia10.3
26hypoxia10.3
27myasthenic syndrome, congenital, 4b, fast-channel10.2CHRNB1, CHRNE
28myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency10.2CHRNB1, CHRNE
29epileptic encephalopathy, early infantile, 2510.2CHRNB1, CHRNE
30myasthenic syndrome, congenital, 3b, fast-channel10.2CHRNB1, CHRND
31myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency10.2CHRNB1, CHRND
32myasthenic syndrome, congenital, 1b, fast-channel10.1CHRNA1, CHRND
33schimke immunoosseous dysplasia10.1CHRNA1, CHRND
34specific bursitis often of occupational origin10.1CHRNA1, CHRND
35mycosis fungoides10.0CHRNA1, CHRNE
36thrombophlebitis migrans10.0CRP, CXCL8
37desquamative interstitial pneumonia10.0CRP, CXCL8
38chondromalacia10.0CRP, CXCL8
39wells-jankovic syndrome10.0CRP, CXCL8
40narcissistic personality disorder10.0CRP, CXCL8
41scrotum squamous cell carcinoma10.0CRP, CXCL8
42endocarditis10.0CRP, CXCL8
43gonadal disease10.0CRP, CXCL8
44aggressive digital papillary adenocarcinoma9.9CRP, CXCL8
45alcoholic gastritis9.9CRP, CXCL8
46cutaneous paget's disease9.9CRP, CXCL8
47bardet-biedl syndrome 89.9CRP, CXCL8
48villoglandular variant cervical mucinous adenocarcinoma9.9CRP, CXCL8
49leech infestation9.9CRP, CXCL8
50xanthogranulomatous pyelonephritis9.9CRP, 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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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, 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
Nucleophosmin contains amyloidogenic regions that are able to form toxic aggregates under physiological conditions. (25977257)
2015
2
Case of basosquamous carcinoma: Dermoscopic and immunohistochemical findings. (26211637)
2015
3
PCBP2 regulates hepatic insulin sensitivity via HIF-1I+ and STAT3 pathway in HepG2 cells. (26002461)
2015
4
C-reactive protein level predicts prognosis in patients with locoregionally advanced laryngeal carcinoma treated with chemoradiotherapy. (22311704)
2012
5
Role of androgen receptor CAG repeat polymorphism length in hypothalamic progesterone sensitivity in hyperandrogenic adolescent girls. (22081303)
2012
6
Work-related allergy in medical doctors: atopy, exposure to domestic animals, eczema induced by common chemicals and membership of the surgical profession as potential risk factors. (21853315)
2012
7
Association between one-hour post-load plasma glucose levels and vascular stiffness in essential hypertension. (23028545)
2012
8
Treating generalized anxiety disorder with second generation antipsychotics: a systematic review and meta-analysis. (21508847)
2011
9
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. (21459883)
2011
10
Association of insulin receptor genetic variants with polycystic ovary syndrome in a population of women from Central Europe. (20493471)
2010
11
The inverted Formin INF2 sorts it out. (20493801)
2010
12
Transforming growth factor beta production correlates with depressed lymphocytes function in humans with chronic brucellosis. (19665058)
2009
13
Tumor necrosis factor blockers influence macrophage responses to Mycobacterium tuberculosis. (18954258)
2008
14
Lower serum ceruloplasmin levels correlate with younger age of onset in Parkinson's disease. (19159062)
2008
15
Albumin marks pseudopodia of astrocytoma cells responding to hepatocyte growth factor or serum. (16969371)
2006
16
Expression of SRG3, a core component of mouse SWI/SNF chromatin-remodeling complex, is regulated by cooperative interactions between Sp1/Sp3 and Ets transcription factors. (16288722)
2005
17
Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. (9758629)
1998

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