SCCMS
MCID: SLW003
MIFTS: 36

Slow-Channel Congenital Myasthenic Syndrome (SCCMS)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Slow-Channel Congenital Myasthenic Syndrome

MalaCards integrated aliases for Slow-Channel Congenital Myasthenic Syndrome:

Name: Slow-Channel Congenital Myasthenic Syndrome 20
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel 20 70
Myasthenic Syndrome, Slow-Channel Congenital 29 6
Myasthenic Syndrome, Congenital, Type Iia 20 6
Sccms 20 54
Myasthenic Syndromes, Congenital, Slow Channel 70
Myasthenic Syndrome, Congenital, Slow-Channel 20
Slow Channel Congenital Myasthenic Syndrome 20
Cms Iia 20
Cms2a 20

Classifications:



External Ids:

UMLS 70 C0751885 C2931107

Summaries for Slow-Channel Congenital Myasthenic Syndrome

MalaCards based summary : Slow-Channel Congenital Myasthenic Syndrome, also known as myasthenic syndrome, congenital, postsynaptic slow-channel, is related to myasthenic syndrome, congenital, 4a, slow-channel and myasthenic syndrome, congenital, 1a, slow-channel. An important gene associated with Slow-Channel Congenital Myasthenic Syndrome is CHRND (Cholinergic Receptor Nicotinic Delta Subunit), and among its related pathways/superpathways are Peptide ligand-binding receptors and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include spinal cord and skin.

Related Diseases for Slow-Channel Congenital Myasthenic Syndrome

Diseases in the Slow-Channel Congenital Myasthenic Syndrome family:

Myasthenic Syndrome, Congenital, 1a, Slow-Channel Myasthenic Syndrome, Congenital, 4a, Slow-Channel
Myasthenic Syndrome, Congenital, 2a, Slow-Channel Myasthenic Syndrome, Congenital, 3a, 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 127)
# Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 4a, slow-channel 32.4 CHRNE C17orf107
2 myasthenic syndrome, congenital, 1a, slow-channel 31.7 CHRND CHRNB1 CHRNA1
3 multiple pterygium syndrome, lethal type 30.5 CHRND CHRNA1
4 congenital myasthenic syndrome 29.9 CXCL8 CHRNE CHRND CHRNB1 CHRNA1 C17orf107
5 ptosis 29.8 CHRNE CHRND CHRNB1 CHRNA1
6 myasthenic syndrome, congenital, 2a, slow-channel 11.3
7 myasthenic syndrome, congenital, 3a, slow-channel 11.3
8 myopathy 10.4
9 myasthenic syndrome, congenital, 4b, fast-channel 10.2 CHRNE C17orf107
10 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 10.2 CHRNE C17orf107
11 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.2 CHRNE C17orf107
12 myasthenia gravis 10.1
13 scoliosis 10.1
14 hypotonia 10.1
15 myasthenic syndrome, congenital, 14 10.1 CHRND CHRNB1
16 combined oxidative phosphorylation deficiency 6 10.1 CHRND CHRNB1
17 cystic lymphangioma 10.1 CHRND CHRNA1
18 cerebral cavernous malformations 10.0
19 oligohydramnios 10.0 CHRND CHRNA1
20 aspiration pneumonitis 9.9 CXCL8 CRP
21 suppurative periapical periodontitis 9.9 CXCL8 CRP
22 paramyotonia congenita of von eulenburg 9.9 CHRNE CHRND CHRNB1
23 bacterial conjunctivitis 9.9 CXCL8 CRP
24 tracheitis 9.9 CXCL8 CRP
25 cardiac rupture 9.9 CXCL8 CRP
26 croup 9.9 CXCL8 CRP
27 pyuria 9.9 CXCL8 CRP
28 pustulosis of palm and sole 9.9 CXCL8 CRP
29 vaginal discharge 9.9 CXCL8 CRP
30 cryptogenic organizing pneumonia 9.9 CXCL8 CRP
31 tracheal disease 9.9 CXCL8 CRP
32 chlamydia pneumonia 9.9 CXCL8 CRP
33 chlamydia 9.9 CXCL8 CRP
34 cardiomyopathy, familial hypertrophic, 20 9.9 CXCL8 CRP
35 juvenile arthritis 9.9 CXCL8 CRP
36 neutrophilic dermatosis, acute febrile 9.9 CXCL8 CRP
37 wells syndrome 9.9 CXCL8 CRP
38 urethritis 9.9 CXCL8 CRP
39 funisitis 9.9 CXCL8 CRP
40 blood group, globoside system 9.9 CXCL8 CRP
41 cecal disease 9.9 CXCL8 CRP
42 viral pneumonia 9.9 CXCL8 CRP
43 encephalomalacia 9.9 CXCL8 CRP
44 necrotizing fasciitis 9.9 CXCL8 CRP
45 klebsiella pneumonia 9.9 CXCL8 CRP
46 bronchopneumonia 9.9 CXCL8 CRP
47 endophthalmitis 9.9 CXCL8 CRP
48 pyelitis 9.9 CXCL8 CRP
49 fallopian tube disease 9.9 CXCL8 CRP
50 retinal vascular occlusion 9.9 CXCL8 CRP

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

Drugs & Therapeutics for Slow-Channel Congenital Myasthenic Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Higher Protein Dosing in Critically Ill Patients: A Multicenter Registry-based Randomized Trial: The EFFORT Ultrasound a Sub-study Withdrawn NCT04242966 Phase 3
2 Evaluation of Residual Urine After Intermittent Catheterisation - Comparison of 2 Hydrophilic Coated, Intermittent Catheters Completed NCT00324233
3 The Effect of Higher Protein Dosing in Critically Ill Patients: A Multicenter Registry-based Randomized Trial Recruiting NCT03160547
4 SomPsyNet - Prevention of Psychosocial Distress Consequences in Somatic Medicine: a Model for Collaborative Care Recruiting NCT04269005
5 Determinants of Implementation Success Coordinating Ventilator, Early Ambulation and Rehabilitation Efforts in the Intensive Care Unit Enrolling by invitation NCT04249141

Search NIH Clinical Center for Slow-Channel Congenital Myasthenic Syndrome

Genetic Tests for Slow-Channel Congenital Myasthenic Syndrome

Genetic tests related to Slow-Channel Congenital Myasthenic Syndrome:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Slow-Channel Congenital 29

Anatomical Context for Slow-Channel Congenital Myasthenic Syndrome

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

40
Spinal Cord, Skin

Publications for Slow-Channel Congenital Myasthenic Syndrome

Articles related to Slow-Channel Congenital Myasthenic Syndrome:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. 6 61
9221765 1997
2
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. 6 61
9158151 1997
3
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. 6 61
8872460 1996
4
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. 6 61
7619526 1995
5
Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. 6
16685696 2006
6
[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests]. 6
7863154 1994
7
The slow channel syndrome. Two new cases. 6
3651795 1987
8
A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. 6
6287911 1982
9
Efficacy of salbutamol monotherapy in slow-channel congenital myasthenic syndrome caused by a novel mutation in CHRND. 61
33428214 2021
10
Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia. 61
33652901 2021
11
Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report. 61
33216040 2021
12
Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia. 61
32907971 2020
13
Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine. 61
33030681 2020
14
Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome. 61
32895905 2020
15
[Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome]. 61
32335884 2020
16
Conservative and Surgical Management of Spinal Cord Cavernous Malformations. 61
31891154 2020
17
The biological denitrification coupled with chemical reduction for groundwater nitrate remediation via using SCCMs as carbon source. 61
31203045 2019
18
Adult-onset vocal cord paralysis in slow-channel congenital myasthenic syndrome. 61
31750034 2019
19
Slow-channel myasthenia due to novel mutation in M2 domain of AChR delta subunit. 61
31560172 2019
20
Clinical and genetic characterization of an Italian family with slow-channel syndrome. 61
30542963 2019
21
Analysis of expression of p63 and caspase-3 and their predictive value in patients with squamous cell carcinoma of maxillary sinus. 61
32124745 2019
22
Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. 61
30032336 2018
23
The Differentially Expressed Genes of Human Sporadic Cerebral Cavernous Malformations. 61
29454117 2018
24
A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family. 61
27779167 2016
25
Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. 61
25448156 2015
26
A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment. 61
23797154 2013
27
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. 61
23688972 2013
28
Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. 61
23281026 2013
29
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship: Correction. 61
22406191 2012
30
A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation. 61
22178625 2012
31
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. 61
21822932 2012
32
Varying clinical presentations of familial cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs). 61
27326294 2012
33
Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel. 61
21470676 2011
34
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. 61
21316238 2011
35
Prognostic factors for the outcome of surgical and conservative treatment of symptomatic spinal cord cavernous malformations: a review of a series of 20 patients. 61
20809754 2010
36
Pain outcomes after surgery in patients with intramedullary spinal cord cavernous malformations. 61
20809756 2010
37
Evaluation of the clinical performance of an automated procalcitonin assay for the quantitative detection of bloodstream infection. 54
20445333 2010
38
Decoding pathogenesis of slow-channel congenital myasthenic syndromes using recombinant expression and mice models. 61
20222328 2010
39
Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome. 61
19289485 2009
40
Decremental response to high-frequency trains of acetylcholine pulses but unaltered fractional Ca2+ currents in a panel of "slow-channel syndrome" nicotinic receptor mutants. 61
19171769 2009
41
Inositol-1,4,5-triphosphate receptors mediate activity-induced synaptic Ca2+ signals in muscle fibers and Ca2+ overload in slow-channel syndrome. 61
16973214 2007
42
[Neurophysiological study in slow-channel congenital myasthenic syndrome: case report]. 61
16791378 2006
43
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. 61
16621558 2006
44
The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading. 61
16527851 2006
45
IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit. 61
16198106 2005
46
Selective cleavage of AChR cRNAs harbouring mutations underlying the slow channel myasthenic syndrome by hammerhead ribozymes. 61
19771201 2005
47
Selective DNAzyme-mediated cleavage of AChR mutant transcripts by targeting the mutation site or through mismatches in the binding arm. 61
19771202 2005
48
Congenital myasthenic syndromes. 61
15367858 2004
49
Increased neuromuscular activity causes axonal defects and muscular degeneration. 61
15128655 2004
50
Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference. 61
12928480 2003

Variations for Slow-Channel Congenital Myasthenic Syndrome

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

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRNA1 NM_001039523.3(CHRNA1):c.812C>A (p.Ser271Tyr) SNV Pathogenic 135654 rs483353046 GRCh37: 2:175618272-175618272
GRCh38: 2:174753544-174753544
2 CHRND NM_000751.3(CHRND):c.880C>T (p.Leu294Phe) SNV Pathogenic 694272 rs1574633904 GRCh37: 2:233396121-233396121
GRCh38: 2:232531411-232531411
3 CHRNA1 NM_001039523.3(CHRNA1):c.812C>T (p.Ser271Phe) SNV Pathogenic 135655 rs483353046 GRCh37: 2:175618272-175618272
GRCh38: 2:174753544-174753544
4 CHRNA1 NM_001039523.3(CHRNA1):c.1389C>G (p.Cys463Trp) SNV Pathogenic 18387 rs137852808 GRCh37: 2:175612912-175612912
GRCh38: 2:174748184-174748184
5 CHRNA1 NM_001039523.3(CHRNA1):c.880G>T (p.Val294Phe) SNV Pathogenic 18381 rs137852803 GRCh37: 2:175614871-175614871
GRCh38: 2:174750143-174750143
6 CHRNA1 NM_001039523.3(CHRNA1):c.941G>T (p.Ser314Ile) SNV Pathogenic 18380 rs137852802 GRCh37: 2:175614810-175614810
GRCh38: 2:174750082-174750082
7 CHRNA1 NM_001039523.3(CHRNA1):c.592G>A (p.Gly198Ser) SNV Pathogenic 18379 rs137852801 GRCh37: 2:175618970-175618970
GRCh38: 2:174754242-174754242
8 CHRNA1 NM_001039523.3(CHRNA1):c.896C>T (p.Thr299Ile) SNV Pathogenic 18378 rs137852800 GRCh37: 2:175614855-175614855
GRCh38: 2:174750127-174750127
9 CHRNA1 NM_001039523.3(CHRNA1):c.601G>A (p.Val201Met) SNV Pathogenic 18377 rs137852799 GRCh37: 2:175618961-175618961
GRCh38: 2:174754233-174754233
10 CHRNA1 NM_001039523.3(CHRNA1):c.786C>G (p.Asn262Lys) SNV Pathogenic 18376 rs137852798 GRCh37: 2:175618298-175618298
GRCh38: 2:174753570-174753570
11 CHRNA1 NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr) SNV Uncertain significance 930934 GRCh37: 2:175618243-175618243
GRCh38: 2:174753515-174753515
12 CHRNA1 NM_001039523.3(CHRNA1):c.499G>A (p.Ala167Thr) SNV Uncertain significance 431713 rs1424077317 GRCh37: 2:175619063-175619063
GRCh38: 2:174754335-174754335

Expression for Slow-Channel Congenital Myasthenic Syndrome

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

Pathways for Slow-Channel Congenital Myasthenic Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 CXCL8 CHRNE CHRND CHRNB1 CHRNA1
2
Show member pathways
12.72 CHRNE CHRND CHRNB1 CHRNA1
3
Show member pathways
11.04 CHRNE CHRND CHRNA1
4 10.8 CHRNE CHRNA1
5 10.43 CXCL8 CRP
6 10 CHRNE CHRND CHRNB1 CHRNA1

GO Terms for Slow-Channel Congenital Myasthenic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.71 CHRNE CHRND CHRNB1 CHRNA1
2 synapse GO:0045202 9.67 CHRNE CHRND CHRNB1 CHRNA1
3 neuron projection GO:0043005 9.62 CHRNE CHRND CHRNB1 CHRNA1
4 postsynaptic membrane GO:0045211 9.56 CHRNE CHRND CHRNB1 CHRNA1
5 integral component of postsynaptic specialization membrane GO:0099060 9.33 CHRND CHRNB1 CHRNA1
6 neuromuscular junction GO:0031594 9.26 CHRNE CHRND CHRNB1 CHRNA1
7 acetylcholine-gated channel complex GO:0005892 8.92 CHRNE CHRND CHRNB1 CHRNA1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.96 CXCL8 CHRNE CHRND CHRNB1 CHRNA1
2 ion transport GO:0006811 9.83 CHRNE CHRND CHRNB1 CHRNA1
3 ion transmembrane transport GO:0034220 9.76 CHRNE CHRND CHRNB1 CHRNA1
4 chemical synaptic transmission GO:0007268 9.73 CHRNE CHRND CHRNB1 CHRNA1
5 muscle contraction GO:0006936 9.69 CHRNE CHRND CHRNB1
6 cation transport GO:0006812 9.65 CHRND CHRNB1 CHRNA1
7 regulation of membrane potential GO:0042391 9.56 CHRNE CHRND CHRNB1 CHRNA1
8 neuromuscular process GO:0050905 9.55 CHRND CHRNA1
9 neuromuscular synaptic transmission GO:0007274 9.54 CHRNB1 CHRNA1
10 skeletal muscle contraction GO:0003009 9.54 CHRND CHRNB1 CHRNA1
11 synaptic transmission, cholinergic GO:0007271 9.5 CHRNE CHRNB1 CHRNA1
12 musculoskeletal movement GO:0050881 9.49 CHRND CHRNA1
13 excitatory postsynaptic potential GO:0060079 9.46 CHRNE CHRND CHRNB1 CHRNA1
14 skeletal muscle tissue growth GO:0048630 9.4 CHRND CHRNA1
15 nervous system process GO:0050877 9.26 CHRNE CHRND CHRNB1 CHRNA1
16 regulation of postsynaptic membrane potential GO:0060078 8.92 CHRNE CHRND CHRNB1 CHRNA1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.73 CHRNE CHRND CHRNB1 CHRNA1
2 ion channel activity GO:0005216 9.71 CHRNE CHRND CHRNB1 CHRNA1
3 neurotransmitter receptor activity GO:0030594 9.62 CHRNE CHRND CHRNB1 CHRNA1
4 acetylcholine receptor activity GO:0015464 9.54 CHRNE CHRNB1 CHRNA1
5 ligand-gated ion channel activity GO:0015276 9.46 CHRND CHRNB1
6 extracellular ligand-gated ion channel activity GO:0005230 9.46 CHRNE CHRND CHRNB1 CHRNA1
7 acetylcholine binding GO:0042166 9.43 CHRND CHRNB1 CHRNA1
8 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.26 CHRNE CHRND CHRNB1 CHRNA1
9 acetylcholine-gated cation-selective channel activity GO:0022848 8.92 CHRNE CHRND CHRNB1 CHRNA1

Sources for Slow-Channel Congenital Myasthenic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....