CMS1A
MCID: MYS046
MIFTS: 44

Myasthenic Syndrome, Congenital, 1a, Slow-Channel (CMS1A)

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 1a, Slow-Channel:

Name: Myasthenic Syndrome, Congenital, 1a, Slow-Channel 57 72
Congenital Myasthenic Syndrome 1a 12 29 6 15
Cms1a 57 12 72
Congenital Myasthenic Syndrome Type Iia 12 72
Congenital Myasthenic Syndrome 2a 12 6
Cms Iia 12 72
Cms2a 12 72
Myasthenic Syndrome, Congenital, Type Iia, Formerly; Cms2a, Formerly 57
Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel 70
Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel 72
Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel 39
Myasthenic Syndrome, Congenital, Type Iia, Formerly 57
Congenital Myasthenic Syndrome 1a, Slow-Channel 12
Congenital Myasthenic Syndrome 2a Slow-Channel 12
Myasthenic Syndromes, Congenital, Slow Channel 70
Myasthenic Syndrome, Congenital, Slow-Channel 72
Cms Iia, Formerly 57
Cms2a, Formerly 57
Sccms 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset
usually symptomatic in adulthood with history of weakness since infancy or childhood
exacerbation of symptoms during or after pregnancy
progressive disorder due to secondary myopathy
poor response to acetylcholinesterase inhibitors
quinidine therapy may be effective
fluoxetine therapy may be effective


HPO:

31
myasthenic syndrome, congenital, 1a, slow-channel:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110663 DOID:0110681
OMIM® 57 601462
OMIM Phenotypic Series 57 PS601462
MeSH 44 D020294
UMLS 70 C0751885 C2931107

Summaries for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

OMIM® : 57 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by Engel et al., 2003; Engel et al., 2015). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003). Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). (601462) (Updated 05-Apr-2021)

MalaCards based summary : Myasthenic Syndrome, Congenital, 1a, Slow-Channel, also known as congenital myasthenic syndrome 1a, is related to myasthenic syndrome, congenital, 1b, fast-channel and slow-channel congenital myasthenic syndrome. An important gene associated with Myasthenic Syndrome, Congenital, 1a, Slow-Channel is CHRNA1 (Cholinergic Receptor Nicotinic Alpha 1 Subunit), and among its related pathways/superpathways are Signaling events mediated by HDAC Class I and Regulation of TP53 Activity through Acetylation. Related phenotypes are high palate and ptosis

Disease Ontology : 12 A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.

UniProtKB/Swiss-Prot : 72 Myasthenic syndrome, congenital, 1A, slow-channel: A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane.

Related Diseases for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

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 Myasthenic Syndrome, Congenital, 1a, Slow-Channel via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 1b, fast-channel 31.5 CHRND CHRNA1
2 slow-channel congenital myasthenic syndrome 31.5 CHRND CHRNB1 CHRNA1
3 myasthenic syndrome, congenital, 14 31.4 CHRND CHRNB1
4 myasthenic syndrome, congenital, 13 31.3 CHRND CHRNB1 CHRNA1
5 myasthenic syndrome, congenital, 6, presynaptic 11.2
6 congenital myasthenic syndrome with episodic apnea 11.0
7 myasthenic syndrome, congenital, 10 10.8
8 myasthenic syndrome, congenital, 5 10.8
9 myasthenic syndrome, congenital, 4a, slow-channel 10.8
10 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.8
11 myasthenic syndrome, congenital, 12 10.8
12 myasthenic syndrome, congenital, 16 10.8
13 myasthenic syndrome, congenital, 8 10.8
14 muscular dystrophy-dystroglycanopathy , type c, 14 10.8
15 myasthenic syndrome, congenital, 7, presynaptic 10.8
16 myasthenic syndrome, congenital, 15 10.8
17 myasthenic syndrome, congenital, 2a, slow-channel 10.8
18 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.8
19 myasthenic syndrome, congenital, 3a, slow-channel 10.8
20 myasthenic syndrome, congenital, 3b, fast-channel 10.8
21 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 10.8
22 myasthenic syndrome, congenital, 4b, fast-channel 10.8
23 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 10.8
24 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 10.8
25 myasthenic syndrome, congenital, 18 10.8
26 myasthenic syndrome, congenital, 19 10.8
27 myasthenic syndrome, congenital, 20, presynaptic 10.8
28 myasthenic syndrome, congenital, 25, presynaptic 10.8
29 cystic lymphangioma 10.2 CHRND CHRNA1
30 combined oxidative phosphorylation deficiency 6 10.1 CHRND CHRNB1
31 multiple pterygium syndrome, lethal type 10.1 CHRND CHRNA1
32 placenta praevia 10.1 OXT CHRND
33 congenital myasthenic syndrome 10.0 CHRND CHRNB1 CHRNA1
34 prosopagnosia 10.0 OXT CPZ
35 postsynaptic congenital myasthenic syndromes 10.0 CHRND CHRNB1 CHRNA1
36 neuromuscular junction disease 10.0 CHRND CHRNB1 CHRNA1
37 bestiality 10.0 OXT CPZ
38 animal phobia 10.0 TCF20 OXT
39 multiple pterygium syndrome, escobar variant 10.0 CHRND CHRNB1 CHRNA1
40 fetal akinesia deformation sequence 1 10.0 CHRND CHRNB1 CHRNA1
41 cerebral cavernous malformations 10.0
42 paramyotonia congenita of von eulenburg 9.9 CHRND CHRNB1
43 oligohydramnios 9.9 OXT CHRND CHRNA1
44 neuromuscular disease 9.8 CHRND CHRNB1 CHRNA1
45 agnosia 9.8 OXT OPRM1
46 ptosis 9.8 TCF20 CHRND CHRNB1 CHRNA1
47 separation anxiety disorder 9.8 OXT OPRM1
48 morphine dependence 9.7 OXT OPRM1
49 dermatomyositis 9.7 CHD4 CHD3
50 amnestic disorder 9.7 OXT OPRM1

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 1a, Slow-Channel:



Diseases related to Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Human phenotypes related to Myasthenic Syndrome, Congenital, 1a, Slow-Channel:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 high palate 31 occasional (7.5%) HP:0000218
2 ptosis 31 HP:0000508
3 dysarthria 31 HP:0001260
4 dysphagia 31 HP:0002015
5 ophthalmoplegia 31 HP:0000602
6 ophthalmoparesis 31 HP:0000597
7 feeding difficulties 31 HP:0011968
8 generalized muscle weakness 31 HP:0003324
9 fatigable weakness 31 HP:0003473
10 type 2 muscle fiber atrophy 31 HP:0003554
11 intermittent episodes of respiratory insufficiency due to muscle weakness 31 HP:0004889
12 decreased size of nerve terminals 31 HP:0003443
13 prolonged miniature endplate currents 31 HP:0003436

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
ophthalmoplegia

Abdomen Gastrointestinal:
dysphagia
feeding difficulties

Respiratory:
respiratory insufficiency, episodic

Muscle Soft Tissue:
dysarthria
scapular muscle weakness
generalized muscle weakness due to defect at the neuromuscular junction
cervical muscle weakness
extensor finger muscle weakness
more
Head And Neck Mouth:
high-arched palate (in some patients)

Clinical features from OMIM®:

601462 (Updated 05-Apr-2021)

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

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 Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Genetic Tests for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Genetic tests related to Myasthenic Syndrome, Congenital, 1a, Slow-Channel:

# Genetic test Affiliating Genes
1 Congenital Myasthenic Syndrome 1a 29 CHRNA1

Anatomical Context for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Publications for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Articles related to Myasthenic Syndrome, Congenital, 1a, Slow-Channel:

(show all 25)
# Title Authors PMID Year
1
Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. 57 6
16685696 2006
2
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. 57 6
9158151 1997
3
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. 6 57
8872460 1996
4
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. 6 57
7619526 1995
5
[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests]. 6 57
7863154 1994
6
The slow channel syndrome. Two new cases. 6 57
3651795 1987
7
A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. 57 6
6287911 1982
8
Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. 6
27375219 2016
9
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 6
27391121 2016
10
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 57
25792100 2015
11
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil. 6
20562457 2010
12
Congenital myasthenic syndromes. 57
15229798 2004
13
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction. 57
14592871 2003
14
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. 57
12771277 2003
15
Effect of local heat versus ice on blepharoptosis resulting from ocular myasthenia. 57
11097597 2000
16
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. 6
10562302 1999
17
Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes. 57
10468632 1999
18
Mutations causing muscle weakness. 57
9689034 1998
19
Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor. 57
9665624 1998
20
Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. 57
9546329 1998
21
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
9221765 1997
22
A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. 6
8651643 1996
23
Congenital myasthenic syndromes. 34th ENMC International Workshop, 10-11 June 1995. 57
8664566 1996
24
Congenital myasthenia gravis: clinical and HLA studies in two brothers. 57
1011024 1976
25
Combining multiple laser scans of spotted microarrays by means of a two-way ANOVA model. 61
22499702 2012

Variations for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 1a, Slow-Channel:

6 (show top 50) (show all 124)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRNB1 NM_000747.3(CHRNB1):c.865G>A (p.Val289Met) SNV Pathogenic 18372 rs137852810 GRCh37: 17:7357660-7357660
GRCh38: 17:7454341-7454341
2 CHRNB1 NM_000747.3(CHRNB1):c.853C>A (p.Leu285Met) SNV Pathogenic 18373 rs137852811 GRCh37: 17:7357648-7357648
GRCh38: 17:7454329-7454329
3 CHRNA1 NM_001039523.3(CHRNA1):c.786C>G (p.Asn262Lys) SNV Pathogenic 18376 rs137852798 GRCh37: 2:175618298-175618298
GRCh38: 2:174753570-174753570
4 CHRNA1 NM_001039523.3(CHRNA1):c.896C>T (p.Thr299Ile) SNV Pathogenic 18378 rs137852800 GRCh37: 2:175614855-175614855
GRCh38: 2:174750127-174750127
5 CHRNA1 NM_001039523.3(CHRNA1):c.592G>A (p.Gly198Ser) SNV Pathogenic 18379 rs137852801 GRCh37: 2:175618970-175618970
GRCh38: 2:174754242-174754242
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.880G>T (p.Val294Phe) SNV Pathogenic 18381 rs137852803 GRCh37: 2:175614871-175614871
GRCh38: 2:174750143-174750143
8 CHRNA1 NM_001039523.3(CHRNA1):c.1389C>G (p.Cys463Trp) SNV Pathogenic 18387 rs137852808 GRCh37: 2:175612912-175612912
GRCh38: 2:174748184-174748184
9 CHRNA1 NM_001039523.3(CHRNA1):c.812C>A (p.Ser271Tyr) SNV Pathogenic 135654 rs483353046 GRCh37: 2:175618272-175618272
GRCh38: 2:174753544-174753544
10 CHRNB1 NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter) SNV Pathogenic 476151 rs201033437 GRCh37: 17:7350875-7350875
GRCh38: 17:7447556-7447556
11 CHRNB1 NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter) SNV Pathogenic 569774 rs766823872 GRCh37: 17:7350156-7350156
GRCh38: 17:7446837-7446837
12 CHRNB1 NC_000017.11:g.(?_7454277)_(7454540_?)del Deletion Pathogenic 584314 GRCh37: 17:7357596-7357859
GRCh38: 17:7454277-7454540
13 CHRNB1 NC_000017.11:g.(?_7454287)_(7454530_?)del Deletion Pathogenic 651814 GRCh37: 17:7357606-7357849
GRCh38: 17:7454287-7454530
14 CHRND NM_000751.3(CHRND):c.880C>T (p.Leu294Phe) SNV Pathogenic 694272 rs1574633904 GRCh37: 2:233396121-233396121
GRCh38: 2:232531411-232531411
15 CHRNB1 NM_000747.3(CHRNB1):c.866T>C (p.Val289Ala) SNV Pathogenic 860460 GRCh37: 17:7357661-7357661
GRCh38: 17:7454342-7454342
16 CHRNA1 NM_001039523.3(CHRNA1):c.601G>A (p.Val201Met) SNV Pathogenic 18377 rs137852799 GRCh37: 2:175618961-175618961
GRCh38: 2:174754233-174754233
17 CHRNA1 NM_001039523.3(CHRNA1):c.812C>T (p.Ser271Phe) SNV Pathogenic 135655 rs483353046 GRCh37: 2:175618272-175618272
GRCh38: 2:174753544-174753544
18 CHRNB1 NM_000747.3(CHRNB1):c.354-1G>A SNV Likely pathogenic 661296 rs1597749210 GRCh37: 17:7350361-7350361
GRCh38: 17:7447042-7447042
19 CHRNB1 NM_000747.3(CHRNB1):c.687_688insT (p.Gly230fs) Insertion Likely pathogenic 930319 GRCh37: 17:7351974-7351975
GRCh38: 17:7448655-7448656
20 CHRNB1 NM_000747.3(CHRNB1):c.686_687insGGG (p.Gly230dup) Insertion Uncertain significance 930320 GRCh37: 17:7351973-7351974
GRCh38: 17:7448654-7448655
21 CHRNA1 NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr) SNV Uncertain significance 930934 GRCh37: 2:175618243-175618243
GRCh38: 2:174753515-174753515
22 CHRNB1 NM_000747.3(CHRNB1):c.1177C>G (p.Arg393Gly) SNV Uncertain significance 938548 GRCh37: 17:7358735-7358735
GRCh38: 17:7455416-7455416
23 CHRNB1 NM_000747.3(CHRNB1):c.793T>G (p.Phe265Val) SNV Uncertain significance 945110 GRCh37: 17:7352080-7352080
GRCh38: 17:7448761-7448761
24 CHRNB1 NM_000747.3(CHRNB1):c.898G>C (p.Glu300Gln) SNV Uncertain significance 948769 GRCh37: 17:7357693-7357693
GRCh38: 17:7454374-7454374
25 CHRNB1 NM_000747.3(CHRNB1):c.61G>A (p.Val21Ile) SNV Uncertain significance 954440 GRCh37: 17:7348591-7348591
GRCh38: 17:7445272-7445272
26 CHRNB1 NM_000747.3(CHRNB1):c.347T>C (p.Leu116Pro) SNV Uncertain significance 957111 GRCh37: 17:7350255-7350255
GRCh38: 17:7446936-7446936
27 CHRNB1 NM_000747.3(CHRNB1):c.31G>A (p.Gly11Arg) SNV Uncertain significance 964055 GRCh37: 17:7348477-7348477
GRCh38: 17:7445158-7445158
28 CHRNB1 NM_000747.3(CHRNB1):c.572G>A (p.Gly191Glu) SNV Uncertain significance 840192 GRCh37: 17:7350931-7350931
GRCh38: 17:7447612-7447612
29 CHRNB1 NM_000747.3(CHRNB1):c.955G>A (p.Val319Ile) SNV Uncertain significance 841839 GRCh37: 17:7357750-7357750
GRCh38: 17:7454431-7454431
30 CHRNB1 NM_000747.3(CHRNB1):c.727C>T (p.Arg243Cys) SNV Uncertain significance 448999 rs199875082 GRCh37: 17:7352014-7352014
GRCh38: 17:7448695-7448695
31 CHRNA1 NM_001039523.3(CHRNA1):c.499G>A (p.Ala167Thr) SNV Uncertain significance 431713 rs1424077317 GRCh37: 2:175619063-175619063
GRCh38: 2:174754335-174754335
32 CHRNB1 NM_000747.3(CHRNB1):c.506T>G (p.Phe169Cys) SNV Uncertain significance 566555 rs1567677415 GRCh37: 17:7350865-7350865
GRCh38: 17:7447546-7447546
33 CHRNB1 NM_000747.3(CHRNB1):c.53C>G (p.Ala18Gly) SNV Uncertain significance 569406 rs534380483 GRCh37: 17:7348499-7348499
GRCh38: 17:7445180-7445180
34 CHRNB1 NM_000747.3(CHRNB1):c.44C>T (p.Ala15Val) SNV Uncertain significance 655540 rs75926342 GRCh37: 17:7348490-7348490
GRCh38: 17:7445171-7445171
35 CHRNB1 NC_000017.10:g.(?_7348427)_(7352127_?)dup Duplication Uncertain significance 658985 GRCh37: 17:7348427-7352127
GRCh38: 17:7445108-7448808
36 CHRNB1 NM_000747.3(CHRNB1):c.1406G>T (p.Arg469Leu) SNV Uncertain significance 659479 rs762250406 GRCh37: 17:7359942-7359942
GRCh38: 17:7456623-7456623
37 CHRNB1 NM_000747.3(CHRNB1):c.314C>T (p.Ala105Val) SNV Uncertain significance 659989 rs866965972 GRCh37: 17:7350222-7350222
GRCh38: 17:7446903-7446903
38 CHRNB1 NM_000747.3(CHRNB1):c.1321A>G (p.Ser441Gly) SNV Uncertain significance 660971 rs754895386 GRCh37: 17:7359216-7359216
GRCh38: 17:7455897-7455897
39 CHRNB1 NM_000747.3(CHRNB1):c.909A>G (p.Leu303=) SNV Uncertain significance 641208 rs774773039 GRCh37: 17:7357704-7357704
GRCh38: 17:7454385-7454385
40 CHRNB1 NM_000747.3(CHRNB1):c.808C>A (p.Pro270Thr) SNV Uncertain significance 641587 rs749302262 GRCh37: 17:7352095-7352095
GRCh38: 17:7448776-7448776
41 CHRNB1 NM_000747.3(CHRNB1):c.240C>G (p.Asp80Glu) SNV Uncertain significance 642218 rs373533921 GRCh37: 17:7349429-7349429
GRCh38: 17:7446110-7446110
42 CHRNB1 NM_000747.3(CHRNB1):c.187C>G (p.Leu63Val) SNV Uncertain significance 643000 rs761035556 GRCh37: 17:7348717-7348717
GRCh38: 17:7445398-7445398
43 CHRNB1 NM_000747.3(CHRNB1):c.695G>T (p.Arg232Leu) SNV Uncertain significance 648381 rs202080837 GRCh37: 17:7351982-7351982
GRCh38: 17:7448663-7448663
44 CHRNB1 NM_000747.3(CHRNB1):c.754G>T (p.Val252Phe) SNV Uncertain significance 650752 rs751045224 GRCh37: 17:7352041-7352041
GRCh38: 17:7448722-7448722
45 CHRNB1 NM_000747.3(CHRNB1):c.198+3G>T SNV Uncertain significance 476150 rs1555551725 GRCh37: 17:7348731-7348731
GRCh38: 17:7445412-7445412
46 CHRNB1 NM_000747.3(CHRNB1):c.578A>G (p.Gln193Arg) SNV Uncertain significance 570481 rs376604413 GRCh37: 17:7350937-7350937
GRCh38: 17:7447618-7447618
47 CHRNB1 NM_000747.3(CHRNB1):c.1482G>T (p.Leu494Phe) SNV Uncertain significance 573056 rs747251351 GRCh37: 17:7360018-7360018
GRCh38: 17:7456699-7456699
48 CHRNB1 NM_000747.3(CHRNB1):c.1448C>T (p.Thr483Ile) SNV Uncertain significance 574794 rs369847025 GRCh37: 17:7359984-7359984
GRCh38: 17:7456665-7456665
49 CHRNB1 NM_000747.3(CHRNB1):c.340G>A (p.Val114Met) SNV Uncertain significance 575763 rs149433073 GRCh37: 17:7350248-7350248
GRCh38: 17:7446929-7446929
50 CHRNB1 NM_000747.3(CHRNB1):c.1210C>T (p.Pro404Ser) SNV Uncertain significance 576196 rs1199729169 GRCh37: 17:7358768-7358768
GRCh38: 17:7455449-7455449

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 1a, Slow-Channel:

72
# Symbol AA change Variation ID SNP ID
1 CHRNA1 p.Gly198Ser VAR_000282 rs137852801
2 CHRNA1 p.Val201Met VAR_000283 rs137852799
3 CHRNA1 p.Asn262Lys VAR_000284 rs137852798
4 CHRNA1 p.Thr299Ile VAR_000285 rs137852800
5 CHRNA1 p.Ser314Ile VAR_000286 rs137852802
6 CHRNA1 p.Val294Phe VAR_021207 rs137852803
7 CHRNA1 p.Cys463Trp VAR_038601 rs137852808

Expression for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 1a, Slow-Channel.

Pathways for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Pathways related to Myasthenic Syndrome, Congenital, 1a, Slow-Channel according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.98 CHD4 CHD3
2
Show member pathways
10.61 CHD4 CHD3
3 9.88 CHRND CHRNB1 CHRNA1

GO Terms for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Cellular components related to Myasthenic Syndrome, Congenital, 1a, Slow-Channel according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.56 OPRM1 CHRND CHRNB1 CHRNA1
2 postsynaptic membrane GO:0045211 9.54 CHRND CHRNB1 CHRNA1
3 neuromuscular junction GO:0031594 9.33 CHRND CHRNB1 CHRNA1
4 NuRD complex GO:0016581 9.32 CHD4 CHD3
5 integral component of postsynaptic specialization membrane GO:0099060 9.13 CHRND CHRNB1 CHRNA1
6 acetylcholine-gated channel complex GO:0005892 8.8 CHRND CHRNB1 CHRNA1

Biological processes related to Myasthenic Syndrome, Congenital, 1a, Slow-Channel according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.75 CHRND CHRNB1 CHRNA1
2 chemical synaptic transmission GO:0007268 9.73 CHRND CHRNB1 CHRNA1
3 regulation of membrane potential GO:0042391 9.61 CHRND CHRNB1 CHRNA1
4 cation transport GO:0006812 9.58 CHRND CHRNB1 CHRNA1
5 response to cocaine GO:0042220 9.57 OXT OPRM1
6 ATP-dependent chromatin remodeling GO:0043044 9.55 CHD4 CHD3
7 regulation of sensory perception of pain GO:0051930 9.54 OXT OPRM1
8 neuromuscular process GO:0050905 9.52 CHRND CHRNA1
9 eating behavior GO:0042755 9.51 OXT OPRM1
10 nervous system process GO:0050877 9.5 CHRND CHRNB1 CHRNA1
11 neuromuscular synaptic transmission GO:0007274 9.49 CHRNB1 CHRNA1
12 synaptic transmission, cholinergic GO:0007271 9.48 CHRNB1 CHRNA1
13 response to food GO:0032094 9.46 OXT OPRM1
14 regulation of postsynaptic membrane potential GO:0060078 9.43 CHRND CHRNB1 CHRNA1
15 musculoskeletal movement GO:0050881 9.37 CHRND CHRNA1
16 skeletal muscle tissue growth GO:0048630 9.16 CHRND CHRNA1
17 skeletal muscle contraction GO:0003009 9.13 CHRND CHRNB1 CHRNA1
18 excitatory postsynaptic potential GO:0060079 8.92 OPRM1 CHRND CHRNB1 CHRNA1

Molecular functions related to Myasthenic Syndrome, Congenital, 1a, Slow-Channel according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.63 CHRND CHRNB1 CHRNA1
2 ion channel activity GO:0005216 9.58 CHRND CHRNB1 CHRNA1
3 neurotransmitter receptor activity GO:0030594 9.5 CHRND CHRNB1 CHRNA1
4 DNA helicase activity GO:0003678 9.48 CHD4 CHD3
5 ligand-gated ion channel activity GO:0015276 9.43 CHRND CHRNB1
6 extracellular ligand-gated ion channel activity GO:0005230 9.43 CHRND CHRNB1 CHRNA1
7 acetylcholine receptor activity GO:0015464 9.37 CHRNB1 CHRNA1
8 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.33 CHRND CHRNB1 CHRNA1
9 acetylcholine-gated cation-selective channel activity GO:0022848 9.13 CHRND CHRNB1 CHRNA1
10 acetylcholine binding GO:0042166 8.8 CHRND CHRNB1 CHRNA1

Sources for Myasthenic Syndrome, Congenital, 1a, Slow-Channel

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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