MCID: SLW003
MIFTS: 31

Slow-Channel Congenital Myasthenic Syndrome malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Slow-Channel Congenital Myasthenic Syndrome

About this section
Sources:
45NIH Rare Diseases, 47Novoseek, 24GTR
See all sources

Aliases & Descriptions for Slow-Channel Congenital Myasthenic Syndrome:

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


Classifications:



Summaries for Slow-Channel Congenital Myasthenic Syndrome

About this section
MalaCards based summary: Slow-Channel Congenital Myasthenic Syndrome, also known as slow channel congenital myasthenic syndrome, is related to myasthenic syndrome, congenital, 1a, slow-channel and congenital myasthenic syndrome. An important gene associated with Slow-Channel Congenital Myasthenic Syndrome is CHRNA1 (Cholinergic Receptor, Nicotinic, Alpha 1 (Muscle)), and among its related pathways are Postsynaptic nicotinic acetylcholine receptors and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics.

Related Diseases for Slow-Channel Congenital Myasthenic Syndrome

About this section

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 63)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 1a, slow-channel30.9CHRNA1, CHRND
2congenital myasthenic syndrome11.0
3myasthenic syndrome, congenital, 3a, slow-channel10.4
4myasthenic syndrome, congenital, 4a, slow-channel10.4
5myasthenic syndrome, congenital, 2a, slow-channel10.4
6myasthenia gravis, limb-girdle10.1CHRNA1, CHRNE
7myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.1CHRNB1, CHRND
8deafness, autosomal recessive 8510.1CHRNB1, CHRND
9vasculitis10.1CHRNB1, CHRND
10myasthenic syndrome, congenital, 1b, fast-channel10.1CHRNA1, CHRND
11aniseikonia10.1CHRNA1, CHRND
12multiple pterygium syndrome, lethal type10.1CHRNA1, CHRND
13schimke immunoosseous dysplasia10.1CHRNA1, CHRND
14open-angle glaucoma10.1CHRNA1, CHRND
15myasthenic syndrome, congenital, 4b, fast-channel10.1CHRND, CHRNE
16myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency10.1CHRND, CHRNE
17epileptic encephalopathy, early infantile, 2510.1CHRND, CHRNE
18mycosis fungoides10.0CHRNA1, CHRNE
19ethmoid sinus adenocarcinoma10.0CRP, CXCL8
20cardioauditory syndrome of sanchez cascos10.0CRP, CXCL8
21plantar fasciitis10.0CRP, CXCL8
22pyelonephritis10.0CRP, CXCL8
23cicatricial lagophthalmos10.0CRP, CXCL8
24vulvovaginal candidiasis10.0CRP, CXCL8
25metagonimiasis10.0CRP, CXCL8
26acute female pelvic peritonitis10.0CRP, CXCL8
27placenta praevia10.0CRP, CXCL8
28fallopian tube transitional cell carcinoma10.0CRP, CXCL8
29wells-jankovic syndrome10.0CRP, CXCL8
30visceral heterotaxy10.0CRP, CXCL8
31pneumoconiosis10.0CRP, CXCL8
32uterine fibroid10.0CRP, CXCL8
33bardet-biedl syndrome 810.0CRP, CXCL8
34cd3delta deficiency10.0CRP, CXCL8
35neuromuscular junction disease10.0CHRNA1, CHRNE
36lumbar plexus neoplasm10.0CRP, CXCL8
37bubonic plague10.0CRP, CXCL8
38pyloric stenosis10.0CRP, CXCL8
39benign eccrine breast spiradenoma9.9CRP, CXCL8
40dyspepsia9.9CRP, CXCL8
41balanitis9.9CRP, CXCL8
42mixed cerebral palsy9.9CRP, CXCL8
43nodular malignant melanoma9.9CRP, CXCL8
44gastrointestinal anthrax9.9CRP, CXCL8
45endocardium disease9.9CRP, CXCL8
46alcoholic liver cirrhosis9.9CRP, CXCL8
47dacryoadenitis9.9CRP, CXCL8
48fallopian tube leiomyoma9.9CRP, CXCL8
49sleep disorder9.9CRP, CXCL8
50large cell keratinizing variant squamous cell breast carcinoma9.9CRP, 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

About this section

Drugs & Therapeutics for Slow-Channel Congenital Myasthenic Syndrome

About this section

Drugs for Slow-Channel Congenital Myasthenic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BudesonideapprovedPhase 336851333-22-363006, 5281004
Synonyms:
(11-beta,16-alpha)-16,17-(Butylidenebis(oxy))-11,21-dihydroxypregna-1,4-diene-3,20-dione
(11beta,16alpha)-16,17-(Butylidenebis(oxy))-11,21-dihydroxypregna-1,4-diene-3,20-dione
(4aR,4bS,5S,6aS,6bS,8R,9aR,10aS,10bS)-5-hydroxy-6b-(hydroxyacetyl)-4a,6a-dimethyl-8-propyl-4a,4b,5,6,6a,6b,9a,10,10a,10b,11,12-dodecahydro-2H-naphtho[2',1':4,5]indeno[1,2-d][1,3]dioxol-2-one
(4aR,4bS,5S,6aS,6bS,9aR,10aS,10bS)-5-hydroxy-6b-(hydroxyacetyl)-4a,6a-dimethyl-8-propyl-4a,4b,5,6,6a,6b,9a,10,10a,10b,11,12-dodecahydro-2H-naphtho[2',1':4,5]indeno[1,2-d][1,3]dioxol-2-one
(R,S)-11b,16a,17,21,tetrahydroxypregna-1,4-diene-3,20-dione cyclic 16,17-acetal with buty raldehyde
(RS)-(11beta,16alpha)-16,17-[Butylidenebis(oxy)]-11,21-dihydroxypregna-1,4-diene-3,20-dione
(RS)-11beta,16alpha,17,21-Tetrahydroxypregna-1,4-diene-3,20-dione cyclic 16,17-acetal with butyraldehyde
(S)-16alpha,17-(Butylidenedioxy)-11beta,21-dihydroxypregna-1,4-diene-3,20-dione
11beta,21-dihydroxy-16alpha,17alpha-(butane-1,1-diyldioxy)pregna-1,4-diene-3,20-dione
16,17-Butylidenebis(oxy)-11,21-dihydroxypregna-1,4-diene-3,20-dione
16,17-Butylidenebis(oxy)-11-,21-dihydroxypregna-1,4-diene-3,20-dione
16-alpha,17-alpha-Butylidenedioxy-11-beta,21-dihydroxy-1,4-pregnadiene-3,20-dione
16alpha(R),17-(Butylidenebis(oxy))-11beta,21-dihydroxypregna-1,4-diene-3,20-dione
16alpha-,17alpha--butylidenedioxypregna-1,4-diene-11beta-,21-diol-3,20-dione
51333-22-3
AC-4697
AC1L1DQE
AC1L1Y6Y
AC1L22VC
AC1MHWI7
B 7777
B7777_SIGMA
BPBio1_000523
BRD-A34299591-001-03-4
BRD-A82238138-001-01-7
BSPBio_000475
BSPBio_002160
Bidien
Bio-0010
Budecort Inhaler
Budenofalk
Budeson
Budesonide
Budesonide (JAN/USAN/INN)
Budesonide Easyhaler
Budesonide Inhalation
Budesonide MMX
Budesonide Nasal
Budesonide [USAN:INN:BAN:JAN]
Budesonido
Budesonido [INN-Spanish]
Budesonidum
Budesonidum [INN-Latin]
Budiair
Budicort
C25H34O6
CCRIS 5230
CHEBI:3207
CHEBI:656601
CHEMBL1370
CID2462
CID3033890
CID40000
CID5281004
CID63006
CPD000058337
Cortivent
D00246
DB01222
Desowen
Dexbudesonide
Dexbudesonide [INN]
DivK1c_000475
EINECS 257-139-7
EINECS 257-160-1
EINECS 257-161-7
EU-0100174
Entocort
Entocort EC
Entocort EC (TN)
Giona Easyhaler
HMS1569H17
HMS1921I22
HMS2094I13
HMS501H17
 
Horacort
IDI1_000475
Inflammide
KBio1_000475
KBio3_001660
KBioGR_001361
LS-187734
LS-7235
Lopac0_000174
MAP-0010
MLS000028507
MLS001077323
MLS002207112
Micronyl
Miflonide
MolPort-002-529-265
MolPort-003-666-332
MolPort-003-986-909
NCGC00015165-03
NCGC00021318-03
NCGC00021318-06
NCGC00089747-02
NCGC00089747-03
NCGC00089747-04
NCGC00178789-01
NINDS_000475
Noex
Preferid
Pregna-1,4-diene-3,20-dione, 16,17-butylidenebis(oxy)-11,21-dihydroxy-, (11beta,16alpha(R))-, and 16alpha,17-((S)-Butylidenebis(oxy))-11beta,21-dihydroxypregna-1,4-diene-3,20-dione
Prestwick0_000518
Prestwick1_000518
Prestwick2_000518
Prestwick3_000518
Prestwick_840
Pulmaxan
Pulmaxan turbohaler
Pulmicort
Pulmicort (TN)
Pulmicort FLEXHALER
Pulmicort Flexhaler
Pulmicort Nebuamp
Pulmicort Respules
Pulmicort Topinasal
Pulmicort Turbuhaler
Pulmicort turbuhaler
Respules
Rhinocort
Rhinocort Aqua
Rhinocort Turbuhaler
Rhinocort alpha
Rhinocort, Pulmicort , Entocort, Symbicort, Noex. Entocort EC, Budesonide
Rhinosol
S 1320
S-1320
S1286_Selleck
SAM002699898
SMR000058337
SPBio_000586
SPBio_002396
SPECTRUM1500813
ST51039033
Spectrum2_000623
Spectrum3_000620
Spectrum4_000821
Spectrum5_001738
Spirocort
TL8003397
Tridesilon
UDB
UNII-168L5HT37P
UNII-2HI1006KPH
UNII-Q3OKS62Q6X
Uceris
Unit dose budesonide
ZINC03938751
ZINC04097286
budesonide
2Fibrin fragment DPhase 279

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1SOIBD Collagenous Colitis Maintenance StudyCompletedNCT01278082Phase 3
2Therapeutic Hypothermia for Severe Acute PancreatitisRecruitingNCT01794858Phase 2
3Evaluation of Residual Urine After Intermittent CatheterisationCompletedNCT00324233
4International Multicentre Prevalence Study on SepsisCompletedNCT01943747
5Test Catheter Pilot Study in Healthy VolunteersCompletedNCT00832078
6Thermodilution - Controlled Management of Volume Therapy in Septic ShockCompletedNCT01263977
7Serum ProcalcitoninCompletedNCT00954551
8Mitochondrial Function of Immune Cells in SepsisCompletedNCT01600989
9Biomarkers in Patients Undergoing Mechanical VentilationRecruitingNCT02078999
10Relationship Between Blood Glucose Levels and Variability and Infections Development in Critically Ill PatientRecruitingNCT02659995
11Optimal Protein Supplementation for Critically Ill PatientsRecruitingNCT01934595
12Long-term Cognitive and Cerebral Changes in Sepsis Survivors and Their PredictorsRecruitingNCT02339649
13Comparison of Microtrauma in Urethra After Usage of Different CathetersTerminatedNCT01600443

Search NIH Clinical Center for Slow-Channel Congenital Myasthenic Syndrome

Genetic Tests for Slow-Channel Congenital Myasthenic Syndrome

About this section

Genetic tests related to Slow-Channel Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Myasthenic Syndrome, Slow-Channel Congenital24

Anatomical Context for Slow-Channel Congenital Myasthenic Syndrome

About this section

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

About this section

Publications for Slow-Channel Congenital Myasthenic Syndrome

About this section

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

About this section

Clinvar genetic disease variations for Slow-Channel Congenital Myasthenic Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CHRNA1NM_000079.3(CHRNA1): c.737C> A (p.Ser246Tyr)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
2CHRNA1NM_000079.3(CHRNA1): c.737C> T (p.Ser246Phe)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
3CHRNA1NM_001039523.2(CHRNA1): c.786C> G (p.Asn262Lys)single nucleotide variantPathogenicrs137852798GRCh37Chr 2, 175618298: 175618298
4CHRNA1NM_001039523.2(CHRNA1): c.601G> A (p.Val201Met)single nucleotide variantPathogenicrs137852799GRCh37Chr 2, 175618961: 175618961
5CHRNA1NM_001039523.2(CHRNA1): c.896C> T (p.Thr299Ile)single nucleotide variantPathogenicrs137852800GRCh37Chr 2, 175614855: 175614855
6CHRNA1NM_001039523.2(CHRNA1): c.592G> A (p.Gly198Ser)single nucleotide variantPathogenicrs137852801GRCh37Chr 2, 175618970: 175618970
7CHRNA1NM_001039523.2(CHRNA1): c.941G> T (p.Ser314Ile)single nucleotide variantPathogenicrs137852802GRCh37Chr 2, 175614810: 175614810
8CHRNA1NM_001039523.2(CHRNA1): c.880G> T (p.Val294Phe)single nucleotide variantPathogenicrs137852803GRCh37Chr 2, 175614871: 175614871
9CHRNA1NM_001039523.2(CHRNA1): c.1389C> G (p.Cys463Trp)single nucleotide variantPathogenicrs137852808GRCh37Chr 2, 175612912: 175612912

Expression for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

About this section
Search GEO for disease gene expression data for Slow-Channel Congenital Myasthenic Syndrome.

Pathways for genes affiliated with Slow-Channel Congenital Myasthenic Syndrome

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-gated channel complexGO:00058928.9CHRNA1, CHRNB1, CHRND, CHRNE
2neuron projectionGO:00430058.7CHRNA1, CHRNB1, CHRND, CHRNE
3synapseGO:00452028.6CHRNB1, CHRND, CHRNE
4postsynaptic membraneGO:00452118.5CHRNA1, CHRNB1, CHRND, CHRNE
5cell junctionGO:00300548.4CHRNA1, CHRNB1, CHRND, CHRNE

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular processGO:005090510.0CHRNA1, CHRND
2musculoskeletal movementGO:00508819.9CHRNA1, CHRND
3skeletal muscle tissue growthGO:00486309.8CHRNA1, CHRND
4response to nicotineGO:00350949.4CHRNA1, CHRND, CHRNE
5ion transmembrane transportGO:00342209.4CHRNA1, CHRNB1, CHRND
6neurological system processGO:00508779.3CHRNB1, CHRND, CHRNE
7muscle contractionGO:00069369.2CHRNB1, CHRND, CHRNE
8synaptic transmissionGO:00072689.0CHRNA1, CHRND, CHRNE
9skeletal muscle contractionGO:00030099.0CHRNA1, CHRNB1, CHRND, CHRNE
10cation transportGO:00068129.0CHRNA1, CHRNB1, CHRND, CHRNE
11synaptic transmission, cholinergicGO:00072719.0CHRNA1, CHRNB1, CHRND, CHRNE
12neuromuscular synaptic transmissionGO:00072749.0CHRNA1, CHRNB1, CHRND, CHRNE
13cation transmembrane transportGO:00986558.9CHRNA1, CHRNB1, CHRND, CHRNE
14ion transportGO:00068118.8CHRNA1, CHRNB1, CHRND, CHRNE
15transportGO:00068108.7CHRNA1, CHRNB1, CHRND, CHRNE
16regulation of membrane potentialGO:00423918.5CHRNA1, CHRNB1, CHRND, CHRNE
17signal transductionGO:00071657.6CHRNA1, CHRNB1, CHRND, CHRNE, CXCL8

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

idNameGO IDScoreTop Affiliating Genes
1ligand-gated ion channel activityGO:00152769.3CHRNB1, CHRND
2acetylcholine-activated cation-selective channel activityGO:00048898.5CHRNA1, CHRNB1, CHRND, CHRNE
3extracellular ligand-gated ion channel activityGO:00052308.5CHRNA1, CHRNB1, CHRND, CHRNE
4acetylcholine bindingGO:00421668.5CHRNA1, CHRNB1, CHRND, CHRNE
5acetylcholine receptor activityGO:00154648.2CHRNA1, CHRNB1, CHRND, CHRNE

Sources for Slow-Channel Congenital Myasthenic Syndrome

About this section
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