MCID: CNG001
MIFTS: 53

Congenital Myasthenic Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Aliases & Classifications for Congenital Myasthenic Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 11diseasecard, 24GTR, 21GeneReviews, 22GeneTests, 46NINDS, 65UMLS, 47Novoseek, 36MeSH, 42NCIt, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Congenital Myasthenic Syndrome:

Name: Congenital Myasthenic Syndrome 10 45 23 12 51
Congenital Myasthenia 21 45 22 23 46 65
Congenital Myasthenic Syndromes 21 22 23
Myasthenia, Limb-Girdle, Familial 11 24
Myasthenic Syndromes, Congenital 65 36
Myasthenic Syndromes Congenital 47 24
 
Cms 45 23
Myasthenia, Familial Infantile, 1 11
Congenital Myasthenic Syndrome Ib 65
Familial Limb-Girdle Myasthenia 10
Familial Infantile Myasthenia 1 10
Myasthenia - Congenital 46


Classifications:



Characteristics (Orphanet epidemiological data):

51
congenital myasthenic syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

Disease Ontology10 DOID:3635
MeSH36 D020294
NCIt42 C84647
Orphanet51 590
UMLS via Orphanet66 C0751882
ICD10 via Orphanet28 G70.2
MESH via Orphanet37 D020294

Summaries for Congenital Myasthenic Syndrome

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NIH Rare Diseases:45 Congenital myasthenic syndrome (cms) is a group of genetic disorders that result in muscle weakness and fatigue. symptoms can range from mild weakness to progressive disabling weakness. there are three main subtypes of cms, which are defined by how they affect the connection between muscles and the nervous system: postsynaptic (75-80% of patients), synaptic (14-15% of patients), and presynaptic (7-8% of patients). identification of the specific subtype is important in patient care for determining the most effective treatment. mutations in many genes have been found to cause cms, and most forms of cms are inherited in an autosomal recessive pattern. one form of cms, a postsynaptic form known as slow-channel syndrome congenital myasthenic syndrome is inherited in an autosomal dominant manner. last updated: 7/10/2013

MalaCards based summary: Congenital Myasthenic Syndrome, also known as congenital myasthenia, is related to myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency and congenital myasthenic syndrome with episodic apnea. An important gene associated with Congenital Myasthenic Syndrome is SCN4A (Sodium Channel, Voltage Gated, Type IV Alpha Subunit), and among its related pathways are Effects of Botulinum toxin and Postsynaptic nicotinic acetylcholine receptors. Affiliated tissues include eye and skeletal muscle, and related mouse phenotypes are muscle and respiratory system.

Disease Ontology:10 A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).

NINDS:46 All forms of myasthenia are due to problems in the communication between nerve cells and muscles. Most involve the activities of neurotransmitters. Neurotransmitters are chemicals that allow neurons to relay information from one cell to the next. For neurotransmitters to be effective, the nerve cell must release the neurotransmitter properly, and the muscle cell must be able to detect the neurotransmitter and respond to its signal properly.

Genetics Home Reference:23 Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk.

Wikipedia:68 Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several... more...

GeneReviews summary for cms

Related Diseases for Congenital Myasthenic Syndrome

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Diseases in the Congenital Myasthenic Syndrome family:

Myasthenic Syndrome, Congenital, 5 Myasthenic Syndrome, Congenital, 10
Myasthenic Syndrome, Congenital, 17 Myasthenic Syndrome, Congenital, 16
Myasthenic Syndrome, Congenital, 18 Agrn-Related Congenital Myasthenic Syndrome
Chat-Related Congenital Myasthenic Syndrome Chrna1-Related Congenital Myasthenic Syndrome
Chrnb1-Related Congenital Myasthenic Syndrome Chrnd-Related Congenital Myasthenic Syndrome
Chrne-Related Congenital Myasthenic Syndrome Colq-Related Congenital Myasthenic Syndrome
Dok7-Related Congenital Myasthenic Syndrome Gfpt1-Related Congenital Myasthenic Syndrome
Musk-Related Congenital Myasthenic Syndrome Rapsn-Related Congenital Myasthenic Syndrome
Scn4a-Related Congenital Myasthenic Syndrome

Diseases related to Congenital Myasthenic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 453)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency31.4CHRND, CHRNE, RAPSN
2congenital myasthenic syndrome with episodic apnea31.4CHRNE, MUSK, RAPSN
3myasthenic syndrome, congenital, 1a, slow-channel31.3CHAT, CHRNA1, CHRND
4synaptic congenital myasthenic syndromes31.3AGRN, CHAT, SNAP25
5neuromuscular junction disease31.0CHRNA1, CHRNE, DOK7, MUSK, RAPSN, SCN4A
6myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency30.9CHRNB1, CHRND
7myasthenic syndrome, congenital, 4b, fast-channel30.9CHRND, CHRNE, RAPSN
8myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency30.9CHRNE, RAPSN
9myasthenic syndrome, congenital, 1b, fast-channel30.9CHAT, CHRNA1, CHRND
10slow-channel congenital myasthenic syndrome10.8
11myasthenic syndrome, congenital, 1010.5
12congenital myasthenic syndrome associated with acetylcholine receptor deficiency10.5
13hepatocellular carcinoma10.5
14myasthenic syndrome, congenital, 510.5
15myasthenic syndrome, congenital, 6, presynaptic10.5
16myasthenic syndrome, congenital, 1610.5
17presynaptic congenital myasthenic syndromes10.5
18postsynaptic congenital myasthenic syndromes10.5
19autoimmune disease 410.4
20lambert-eaton myasthenic syndrome10.4
21autoimmune disease of the nervous system10.4
22hypersensitivity reaction type ii disease10.4
23nervous system cancer10.4
24neuromuscular disease10.4
25lambert syndrome10.4
26paraneoplastic neurologic disorders10.4
27agrn-related congenital myasthenic syndrome10.4
28chrna1-related congenital myasthenic syndrome10.4
29musk-related congenital myasthenic syndrome10.4
30paraneoplastic syndromes10.4
31adenocarcinoma10.4
32myasthenia gravis, limb-girdle10.4CHRNA1, CHRNE
33dpyd-related altered drug metabolism10.4DOK7, MUSK, RAPSN
34rdh5-related fundus albipunctatus10.4DOK7, MUSK, RAPSN
35deafness, autosomal recessive 8510.4CHRNB1, CHRND
36myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects10.3
37autoimmune disease 110.3
38adult syndrome10.3
39autoimmune disease 310.3
40myasthenic syndrome, congenital, 4a, slow-channel10.3
41child syndrome10.3
42myasthenia gravis10.3
43kid syndrome10.3
44alg14-related congenital myasthenic syndrome without tubular aggregates10.3
45chat-related congenital myasthenic syndrome10.3
46chrnb1-related congenital myasthenic syndrome10.3
47chrnd-related congenital myasthenic syndrome10.3
48chrne-related congenital myasthenic syndrome10.3
49colq-related congenital myasthenic syndrome10.3
50dok7-related congenital myasthenic syndrome10.3

Graphical network of the top 20 diseases related to Congenital Myasthenic Syndrome:



Diseases related to congenital myasthenic syndrome

Symptoms for Congenital Myasthenic Syndrome

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Drugs & Therapeutics for Congenital Myasthenic Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EphedrineapprovedPhase 1, Phase 2438299-42-39294
Synonyms:
( )-Pseudoephedrine
(+)-Ephedrin
(+)-Ephedrine
(+)-Pseudoephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(+-)-Ephedrine
(-)-Ephedrine
(-)-Pseudoephedrine
(-)-psi-Ephedrine
(-)-threo-Ephedrine
(1R,2R)-Ephedrine
(1R,2S)-1-Phenyl-1-hydroxy-2-methylaminopropane
(1S,2R)-Ephedrine
(L)-EPHEDRINE
--EPHEDRINE
1-EPHEDRINE
1-Sedrin
134910_ALDRICH
287636_ALDRICH
287644_ALDRICH
299-42-3
304-87-0
30987-59-8
321-96-0
321-97-1
321-98-2
37577-31-4
38732-95-5
45261_FLUKA
4607-45-8
50-98-6
50906-05-3
53214-57-6
649031_ALDRICH
6912-63-6
7009-81-6
90-82-4
968-63-8
AC-20231
AC-20292
AC1L1JGK
AC1L1NUA
AC1L1RFA
AC1L1SR1
AC1L1T31
AC1L1Y3M
AC1O8JUO
AC1Q3XJE
AC1Q3XJM
AC1Q3XJN
AC1Q59F5
AC1Q7701
AI3-02761
AKOS000268842
AR-1A0126
AR-1I7143
Acunaso
Acunaso (TN)
Afrinol
Ambap299-42-3
BIDD:GT0817
BRN 3197916
BRN 4231286
BSPBio_001946
BSPBio_001968
BSPBio_003261
Benylin Decongestant
Besan
Biophedrin
C01575
C02765
C10H15NO
CHEBI:15407
CHEBI:51209
CHEMBL1590
CHEMBL211456
CHEMBL357080
CID11972440
CID5032
CID62946
CID6710657
CID7028
CID8650
CID9294
CID9457
CPD-9954
CPDD 0049
Cenafed
D00124
D08449
DB00852
DB01364
Decofed
DivK1c_000181
DivK1c_000451
DivK1c_000461
Drixoral N.D.
EINECS 202-017-0
EINECS 202-018-6
EINECS 206-080-5
EINECS 206-292-8
EINECS 206-293-3
Eciphin
Efedrin
Efidac/24
Eltor 120
Ephedral
Ephedremal
Ephedrin
Ephedrine
Ephedrine (TN)
Ephedrine (USP)
Ephedrine [USAN:BAN]
Ephedrine l-form
Ephedrital
Ephedrol
Ephedrosan
Ephedrotal
Ephedsol
Ephendronal
Ephoxamin
Fedrin
Genaphed
HSDB 3072
HSDB 3177
I-Sedrin
I01-3584
I01-8925
I01-8928
 
IDI1_000181
IDI1_000451
IDI1_000461
Isoephedrine
Jsp005664
KBio1_000181
KBio1_000451
KBio1_000461
KBio2_001358
KBio2_001500
KBio2_003926
KBio2_004068
KBio2_006494
KBio2_006636
KBio3_001188
KBio3_001446
KBio3_002762
KBioGR_001013
KBioGR_001763
KBioSS_001358
KBioSS_001500
KST-1A9168
Kratedyn
L(+)-psi-Ephedrine
L(-)-Ephedrine
L-(+)-Ephedrine
L-(-)-Ephedrine
L-Ephedrine
L-erythro-2-(Methylamino)-1-phenylpropan-1-ol
L000968
LS-125921
LS-125922
LS-43083
LS-63961
LS-63962
LS-63963
LS-63964
Lexofedrin
Lopac-E-3250
Lopac0_000501
MLS000069657
Manadrin
Mandrin
Maxenal
MolPort-001-684-474
MolPort-001-684-477
MolPort-001-684-478
MolPort-001-684-479
MolPort-001-769-085
Myfedrine
NCGC00015408-01
NCGC00015408-02
NCGC00162174-01
NCGC00178180-01
NCGC00178889-01
NCI-C55652
NCI60_002955
NINDS_000181
NINDS_000451
NINDS_000461
NSC 165609
NSC 170951
NSC 8971
NSC165609
NSC170951
NSC8971
Nasol
Neodurasina
Neodurasina (TN)
Oprea1_287330
PDSP1_000168
PDSP1_001106
PDSP1_001343
PDSP1_001345
PDSP1_001346
PDSP1_001347
PDSP2_000167
PDSP2_001090
PDSP2_001327
PDSP2_001329
PDSP2_001330
PDSP2_001331
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoephedrine (D)
Pseudoephedrinum
Psi-ephedrin
Psi-ephedrine
Robidrine
SMR000059174
SPBio_000214
SPBio_001365
SPBio_001377
ST023802
STK367993
STOCK1N-42675
Sanedrine
Spectrum2_000137
Spectrum2_001303
Spectrum2_001309
Spectrum3_000414
Spectrum3_000563
Spectrum3_001771
Spectrum4_000497
Spectrum4_001162
Spectrum5_000650
Spectrum5_000879
Spectrum5_001106
Spectrum_000878
Spectrum_001020
Sudafed
Sudafed Decongestant
UNII-03VRY66076
UNII-7CUC9DDI9F
UNII-GN83C131XS
Vencipon
WLN: QYR & Y1 & M1
WLN: QYR&Y1&M1
Zephrol
d-Ephedrine
d-Isoephedrine
d-Pseudoephedrine
d-psi-Ephedrine
l-Ephedrine
l-Pseudoephedrine
racephedrine
trans-Ephedrine
2
PseudoephedrineapprovedPhase 1, Phase 243890-82-47028
Synonyms:
( )-Pseudoephedrine
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-Psi-ephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(1S,2S)-(+)-Pseudoephedrine
(1S,2S)-2-(methylamino)-1-phenylpropan-1-ol
(1S,2S)-2-Methylamino-1-phenyl-1-propanol
(1S,2S)-Pseudoephedrine
(1S,2S)-Pseudoephedrine, polymer-bound
1-Ephedrine
2-(Methylamino)-1-phenyl-1-propanol
287636_ALDRICH
304-87-0
30987-59-8
37577-31-4
649031_ALDRICH
90-82-4
AC-20292
AC1L1NUA
Acunaso
Acunaso (TN)
Afrinol
BIDD:GT0817
BRD-K84175871-003-02-2
BSPBio_003261
Balminil Decongestant Syrup
Benylin Decongestant
Benzenemethanol, alpha-((1S)-1-(methylamino)ethyl)-, (alpha-S)- (9CI)
Besan
C02765
C10H15NO
CHEBI:51209
CHEMBL1590
CID7028
CPD-9954
Cenafed
D-Isoephedrine
D-Pseudoephedrine
D-Pseudoephedrine base
D-Psi-2-Methylamino-1-phenyl-1-propanol
D-Psi-2-methylamino-1-phenyl-1-propanol
D-Psi-Ephedrine
D-Psi-ephedrine
D08449
DB00852
Decofed
Dimetapp Decongestant
Dimetapp Decongestant Pediatric Drops
DivK1c_000451
Drixoral N.D.
Drixoral Nasal Decongestant
EINECS 202-018-6
Efidac 24 Pseudoephedrine Hcl
Efidac/24
Eltor 120
Ephed 60
Ephedrine
Genaphed
HSDB 3177
I01-8928
IDI1_000451
Isoephedrine
KBio1_000451
 
KBio2_001358
KBio2_003926
KBio2_006494
KBio3_002762
KBioGR_001763
KBioSS_001358
L(+)-Psi-Ephedrine
L(+)-Psi-ephedrine
L(+)-psi-Ephedrine
L-(+)-Pseudoephedrine
LS-125922
Lopac-E-3250
Maxenal
MolPort-001-684-474
Myfedrine
NCGC00015408-01
NCGC00178180-01
NCI60_002955
NINDS_000451
Neodurasina
Neodurasina (TN)
Novafed
PDSP1_001347
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoefedrina [INN-Spanish]
Pseudoephedrine
Pseudoephedrine (D)
Pseudoephedrine (INN)
Pseudoephedrine D-form
Pseudoephedrine Ephedrine
Pseudoephedrine Hydrochloride
Pseudoephedrine [INN:BAN]
Pseudoephedrine d-form
Pseudoephedrine hydrochloride
Pseudoephedrine sulfate
Pseudoephedrinum
Pseudoephedrinum [INN-Latin]
Psi-ephedrin
Psi-ephedrine
Robidrine
SPBio_001365
STOCK1N-42675
Spectrum2_001303
Spectrum3_001771
Spectrum4_001162
Spectrum5_000650
Spectrum_000878
Sudafed
Sudafed Decongestant
Sudafed Decongestant 12 Hour
Sudafed Decongestant Extra Strength
Suphedrine
Triaminic AM Decongestant Formula
Triaminic Infant Oral Decongestant Drops
UNII-7CUC9DDI9F
alpha-(1-(Methylamino)ethyl)benzyl alcohol
d-Isoephedrine
d-Pseudoephedrine
d-psi-2-Methylamino-1-phenyl-1-propanol
d-psi-Ephedrine
trans-Ephedrine
3Nasal DecongestantsPhase 1, Phase 2406
4AlbuterolPhase 1465
5Adrenergic beta-2 Receptor AgonistsPhase 1749

Interventional clinical trials:

idNameStatusNCT IDPhase
1Amifampridine Phosphate for the Treatment of Pediatric Congenital Myasthenic SyndromesRecruitingNCT02562066Phase 3
2Ephedrine for the Treatment of Congenital MyastheniaEnrolling by invitationNCT00541216Phase 1, Phase 2
3Efficacy of Albuterol in the Treatment of Congenital Myasthenic SyndromesCompletedNCT01203592Phase 1
4Pregnancy Outcomes in Congenital Myasthenie SyndromeCompletedNCT01474980
53,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS)RecruitingNCT00872950
6Expanded Access Study of Firdapse® (Amifampridine Phosphate, 3,4 Diaminopyridine Phosphate) in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus PatientsAvailableNCT02189720
73,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM)AvailableNCT02012933
8Treatment Use of 3,4-DiaminopyridineAvailableNCT01765140
9Treatment of Lambert-Eaton Myasthenic Syndrome (LEMS) With 3, 4 DAPNo longer availableNCT01378546

Search NIH Clinical Center for Congenital Myasthenic Syndrome


Cochrane evidence based reviews: Myasthenic Syndromes, Congenital

Genetic Tests for Congenital Myasthenic Syndrome

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Genetic tests related to Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Congenital Myasthenic Syndromes22 SCN4A
2 Congenital Myasthenic Syndrome24
3 Myasthenia, Limb-Girdle, Familial24
4 Myasthenia, Familial Limb-Girdle24

Anatomical Context for Congenital Myasthenic Syndrome

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MalaCards organs/tissues related to Congenital Myasthenic Syndrome:

33
Eye, Skeletal muscle

Animal Models for Congenital Myasthenic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.7AGRN, CHAT, CHRNE, COX15, MUSK, RAPSN
2MP:00053889.7AGRN, CHRNE, DOK7, LRP4, MUSK, RAPSN
3MP:00036318.9AGRN, CHAT, CHRNA1, CHRNB1, CHRNE, COLQ
4MP:00107688.7AGRN, CHAT, CHRNA1, CHRNE, COLQ, COX15
5MP:00053868.6AGRN, CHAT, CHRNA1, CHRNE, COLQ, COX15

Publications for Congenital Myasthenic Syndrome

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Articles related to Congenital Myasthenic Syndrome:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. (26327126)
2015
2
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. (26133662)
2015
3
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. (25707578)
2015
4
Use of Next-Generation Sequencing as a Diagnostic Tool forA Congenital Myasthenic Syndrome. (25194721)
2014
5
Familial Dok7 congenital myasthenic syndrome responsive to salbutamol. (25033858)
2014
6
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. (23790237)
2013
7
Congenital myasthenic syndromes and transient myasthenia gravis. (23909021)
2013
8
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. (23688972)
2013
9
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. (23404334)
2013
10
A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance. (22382357)
2012
11
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. (22326364)
2012
12
Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia. (21150643)
2011
13
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. (21316238)
2011
14
Motor endplate remodeling in some cases with congenital myasthenic syndrome. (20925004)
2010
15
Congenital myasthenic syndrome with episodic apnea. (19520274)
2009
16
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. (19251977)
2009
17
Electrophysiological study in synaptic congenital myasthenic syndrome: end-plate acetylcholinesterase deficiency. (19623452)
2009
18
Temporary diazepam responsive apneic attacks and congenital myasthenic syndrome. (19289695)
2009
19
Potential role of caveolin-1-positive domains in the regulation of the acetylcholine receptor's activatable pool: implications in the pathogenesis of a novel congenital myasthenic syndrome. (18836288)
2008
20
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. (17355552)
2007
21
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. (17439981)
2007
22
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. (16621558)
2006
23
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. (16916845)
2006
24
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK. (16550915)
2005
25
An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). (15965226)
2005
26
MUSK, a new target for mutations causing congenital myasthenic syndrome. (15496425)
2004
27
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. (15328566)
2004
28
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. (15286164)
2004
29
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. (15079006)
2004
30
Congenital myasthenic syndromes: progress over the past decade. (12508290)
2003
31
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. (12771277)
2003
32
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. (12756141)
2003
33
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction. (14592871)
2003
34
Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes. (14592868)
2003
35
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. (12141316)
2002
36
Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene. (12536367)
2002
37
A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome. (11960891)
2002
38
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. (10211467)
1999
39
Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. (10514102)
1999
40
Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene. (10382905)
1999
41
AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome. (9668240)
1998
42
Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome. (9668241)
1998
43
Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency. (9443457)
1998
44
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. (9158150)
1997
45
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. (8755487)
1996
46
Multiple system organ failure, intermediate syndrome, congenital myasthenic syndrome, and anticholinesterase treatment: the linkage is puzzling. (8618263)
1996
47
Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel. (7685992)
1993
48
Congenital myasthenic syndrome attributed to an abnormal interaction of acetylcholine with its receptor. (8357189)
1993
49
Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release. (8395161)
1993
50
Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations. (8429842)
1993

Variations for Congenital Myasthenic Syndrome

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Clinvar genetic disease variations for Congenital Myasthenic Syndrome:

5 (show all 155)
id Gene Variation Type Significance SNP ID Assembly Location
1AGRNNM_198576.3(AGRN): c.5179G> T (p.Val1727Phe)single nucleotide variantPathogenicrs587777298GRCh37Chr 1, 986143: 986143
2AGRNNM_198576.3(AGRN): c.1057C> T (p.Gln353Ter)single nucleotide variantPathogenicrs587777299GRCh37Chr 1, 976962: 976962
3DOK7NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs)duplicationPathogenicrs606231128GRCh38Chr 4, 3493110: 3493113
4DOK7NM_173660.4(DOK7): c.1263dupC (p.Ser422Leufs)duplicationLikely pathogenic, Pathogenicrs606231129GRCh38Chr 4, 3493249: 3493249
5DOK7NM_173660.4(DOK7): c.548_551delTCCT (p.Phe183Cysfs)deletionPathogenicrs606231130GRCh38Chr 4, 3485554: 3485557
6SURF1SURF1, 765C-Tsingle nucleotide variantPathogenic
7SURF1SURF1, IVS4, T-C, +2single nucleotide variantPathogenic
8SURF1SURF1, 2-BP INS/10-BP DEL, NT326indelPathogenic
9DOK7NM_173660.4(DOK7): c.1339_1342dupCTGG (p.Gly448Alafs)duplicationPathogenicrs606231131GRCh38Chr 4, 3493325: 3493328
10SURF1SURF1, 2-BP DEL, 855CTdeletionPathogenic
11SURF1SURF1, 1-BP INS, 882TinsertionPathogenic
12SURF1NM_003172.3(SURF1): c.751C> T (p.Gln251Ter)single nucleotide variantPathogenicrs121918657GRCh37Chr 9, 136219301: 136219301
13SURF1SURF1, 1-BP INS, 868TinsertionPathogenic
14SURF1SURF1, IVS5DS, T-G, +2single nucleotide variantPathogenic
15SURF1SURF1, 2-BP DEL, 550AGdeletionPathogenic
16SURF1NM_003172.3(SURF1): c.820T> G (p.Tyr274Asp)single nucleotide variantPathogenicrs121918658GRCh37Chr 9, 136218929: 136218929
17SURF1SURF1, 2-BP DEL, 790AGdeletionPathogenic
18SURF1NM_003172.3(SURF1): c.371G> A (p.Gly124Glu)single nucleotide variantPathogenicrs28933402GRCh37Chr 9, 136220748: 136220748
19SURF1SURF1, 4-BP INS, 572CCCTinsertionPathogenic
20DOK7NM_173660.4(DOK7): c.1143dupC (p.Glu382Argfs)duplicationPathogenicrs606231132GRCh38Chr 4, 3493129: 3493129
21SURF1SURF1, 2-BP DEL, 845CTdeletionPathogenic
22DOK7NM_173660.4(DOK7): c.539G> C (p.Gly180Ala)single nucleotide variantPathogenicrs118203994GRCh37Chr 4, 3487272: 3487272
23DOK7NM_173660.4(DOK7): c.601C> T (p.Arg201Ter)single nucleotide variantPathogenicrs118203995GRCh37Chr 4, 3487334: 3487334
24DOK7NM_173660.4(DOK7): c.55-1G> Tsingle nucleotide variantPathogenicGRCh37Chr 4, 3465232: 3465232
25DOK7DOK7, IVS3DS, G-T, +1single nucleotide variantPathogenic
26DOK7NM_173660.4(DOK7): c.1378dupC (p.Gln460Profs)duplicationPathogenicrs606231133GRCh38Chr 4, 3493364: 3493364
27CHRNA1NM_000079.3(CHRNA1): c.737C> A (p.Ser246Tyr)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
28CHRNA1NM_000079.3(CHRNA1): c.737C> T (p.Ser246Phe)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
29NM_000080.3(CHRNE): c.421C> A (p.Pro141Thr)single nucleotide variantPathogenicrs483353045GRCh37Chr 17, 4805306: 4805306
30CHRNDNM_000751.2(CHRND): c.73G> T (p.Glu25Ter)single nucleotide variantPathogenicrs797044480GRCh37Chr 2, 233391259: 233391259
31CHATCHAT, 2-BP INS, 523CCinsertionPathogenic
32CHATNM_020549.4(CHAT): c.631C> G (p.Pro211Ala)single nucleotide variantPathogenicrs121912815GRCh37Chr 10, 50828592: 50828592
33CHATNM_020549.4(CHAT): c.1321G> A (p.Glu441Lys)single nucleotide variantPathogenicrs121912816GRCh37Chr 10, 50856592: 50856592
34CHATNM_020549.4(CHAT): c.1516G> T (p.Val506Leu)single nucleotide variantPathogenicrs121912817GRCh37Chr 10, 50859934: 50859934
35CHATNM_020549.4(CHAT): c.1444A> G (p.Arg482Gly)single nucleotide variantPathogenicrs121912818GRCh37Chr 10, 50857615: 50857615
36CHATNM_020549.4(CHAT): c.1679G> A (p.Arg560His)single nucleotide variantPathogenicrs121912819GRCh37Chr 10, 50863185: 50863185
37CHATNM_020549.4(CHAT): c.629T> C (p.Leu210Pro)single nucleotide variantPathogenicrs121912820GRCh37Chr 10, 50828590: 50828590
38CHATNM_020549.4(CHAT): c.1493C> T (p.Ser498Leu)single nucleotide variantPathogenicrs121912821GRCh37Chr 10, 50857664: 50857664
39CHATNM_020549.4(CHAT): c.914T> C (p.Ile305Thr)single nucleotide variantPathogenicrs75466054GRCh37Chr 10, 50833680: 50833680
40CHATNM_020549.4(CHAT): c.1258C> T (p.Arg420Cys)single nucleotide variantPathogenicrs121912822GRCh37Chr 10, 50854697: 50854697
41CHATNM_020549.4(CHAT): c.1007T> C (p.Ile336Thr)single nucleotide variantPathogenicrs121912823GRCh37Chr 10, 50835727: 50835727
42AGRNNM_198576.3(AGRN): c.5125G> C (p.Gly1709Arg)single nucleotide variantPathogenicrs199476396GRCh37Chr 1, 985955: 985955
43NM_144988.3(ALG14): c.194C> T (p.Pro65Leu)single nucleotide variantPathogenicrs730882050GRCh37Chr 1, 95530516: 95530516
44ALG14NM_144988.3(ALG14): c.310C> T (p.Arg104Ter)single nucleotide variantPathogenicrs367570129GRCh37Chr 1, 95492795: 95492795
45ALG2NM_033087.3(ALG2): c.214_224delGGGGACTGGCTinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)indelPathogenicrs730882123GRCh37Chr 9, 101983953: 101983963
46ALG2NM_033087.3(ALG2): c.203T> G (p.Val68Gly)single nucleotide variantPathogenicrs730882051GRCh37Chr 9, 101983974: 101983974
47NM_000080.3(CHRNE): c.850A> C (p.Thr284Pro)single nucleotide variantPathogenicrs121909510GRCh37Chr 17, 4804155: 4804155
48NM_000080.3(CHRNE): c.865C> T (p.Leu289Phe)single nucleotide variantPathogenicrs121909511GRCh37Chr 17, 4804140: 4804140
49NM_000080.3(CHRNE): c.500G> T (p.Arg167Leu)single nucleotide variantPathogenicrs121909514GRCh37Chr 17, 4805227: 4805227
50NM_000080.3(CHRNE): c.422C> T (p.Pro141Leu)single nucleotide variantPathogenicrs121909512GRCh37Chr 17, 4805305: 4805305
51NM_000080.3(CHRNE): c.250C> T (p.Arg84Ter)single nucleotide variantPathogenicrs121909513GRCh37Chr 17, 4805606: 4805606
52CHRNECHRNE, 1-BP DEL, 911TdeletionPathogenic
53CHRNECHRNE, IVS4DS, G-A, +1single nucleotide variantPathogenic
54CHRNECHRNE, 1-BP DEL, 1030CdeletionPathogenic
55NM_000080.3(CHRNE): c.721C> T (p.Leu241Phe)single nucleotide variantPathogenicrs28999110GRCh37Chr 17, 4804366: 4804366
56CHRNECHRNE, 156C-Tsingle nucleotide variantPathogenic
57CHRNECHRNE, 1-BP DEL, 1267GdeletionPathogenic
58CHRNECHRNE, 1-BP INS, 1101TinsertionPathogenic
59CHRNECHRNE, 1-BP INS, 1293GinsertionPathogenic
60CHRNECHRNE, 7-BP DEL, 553deletionPathogenic
61NM_000080.3(CHRNE): c.991C> T (p.Arg331Trp)single nucleotide variantPathogenicrs121909515GRCh37Chr 17, 4802804: 4802804
62NM_000080.3(CHRNE): c.37G> A (p.Gly13Arg)single nucleotide variantPathogenicrs372635387GRCh37Chr 17, 4806322: 4806322
63NM_000080.3(CHRNE): c.488C> T (p.Ser163Leu)single nucleotide variantPathogenicrs121909516GRCh37Chr 17, 4805239: 4805239
64CHRNENM_000080.3(CHRNE): c.1291G> C (p.Ala431Pro)single nucleotide variantPathogenicrs121909517GRCh37Chr 17, 4802331: 4802331
65CHRNECHRNE, IVS5AS, G-A, -16single nucleotide variantPathogenic
66CHRNDNM_000751.2(CHRND): c.866C> T (p.Ser289Phe)single nucleotide variantPathogenicrs121909502GRCh37Chr 2, 233396107: 233396107
67CHRNDNM_000751.2(CHRND): c.812C> A (p.Pro271Gln)single nucleotide variantPathogenicrs121909503GRCh37Chr 2, 233394841: 233394841
68CHRNDNM_000751.2(CHRND): c.236T> A (p.Ile79Lys)single nucleotide variantPathogenicrs121909509GRCh37Chr 2, 233392148: 233392148
69CHRNDNM_000751.2(CHRND): c.238G> A (p.Glu80Lys)single nucleotide variantPathogenicrs121909504GRCh37Chr 2, 233392150: 233392150
70CHRNDCHRND, 2-BP DEL, 756AGdeletionPathogenic
71CHRNDNM_000751.2(CHRND): c.188T> C (p.Leu63Pro)single nucleotide variantPathogenicrs121909508GRCh37Chr 2, 233391374: 233391374
72CHRNB1NM_000747.2(CHRNB1): c.865G> A (p.Val289Met)single nucleotide variantPathogenicrs137852810GRCh37Chr 17, 7357660: 7357660
73CHRNB1NM_000747.2(CHRNB1): c.853C> A (p.Leu285Met)single nucleotide variantPathogenicrs137852811GRCh37Chr 17, 7357648: 7357648
74CHRNB1CHRNB1, 9-BP DEL, NT1276deletionPathogenic
75CHRNB1CHRNB1, EX8DELdeletionPathogenic
76CHRNA1NM_001039523.2(CHRNA1): c.786C> G (p.Asn262Lys)single nucleotide variantPathogenicrs137852798GRCh37Chr 2, 175618298: 175618298
77CHRNA1NM_001039523.2(CHRNA1): c.601G> A (p.Val201Met)single nucleotide variantPathogenicrs137852799GRCh37Chr 2, 175618961: 175618961
78CHRNA1NM_001039523.2(CHRNA1): c.896C> T (p.Thr299Ile)single nucleotide variantPathogenicrs137852800GRCh37Chr 2, 175614855: 175614855
79CHRNA1NM_001039523.2(CHRNA1): c.592G> A (p.Gly198Ser)single nucleotide variantPathogenicrs137852801GRCh37Chr 2, 175618970: 175618970
80CHRNA1NM_001039523.2(CHRNA1): c.941G> T (p.Ser314Ile)single nucleotide variantPathogenicrs137852802GRCh37Chr 2, 175614810: 175614810
81CHRNA1NM_001039523.2(CHRNA1): c.880G> T (p.Val294Phe)single nucleotide variantPathogenicrs137852803GRCh37Chr 2, 175614871: 175614871
82CHRNA1NM_001039523.2(CHRNA1): c.988G> A (p.Val330Ile)single nucleotide variantPathogenicrs137852804GRCh37Chr 2, 175614763: 175614763
83CHRNA1NM_001039523.2(CHRNA1): c.832T> G (p.Phe278Val)single nucleotide variantPathogenicrs137852805GRCh37Chr 2, 175618252: 175618252
84CHRNA1NM_001039523.2(CHRNA1): c.901T> C (p.Phe301Leu)single nucleotide variantPathogenicrs137852806GRCh37Chr 2, 175614850: 175614850
85CHRNA1NM_001039523.2(CHRNA1): c.529G> C (p.Val177Leu)single nucleotide variantPathogenicrs137852807GRCh37Chr 2, 175619033: 175619033
86CHRNA1CHRNA1, 1-BP DEL, 381CdeletionPathogenic
87CHRNA1NM_001039523.2(CHRNA1): c.1389C> G (p.Cys463Trp)single nucleotide variantPathogenicrs137852808GRCh37Chr 2, 175612912: 175612912
88CHRNENM_000080.3(CHRNE): c.1033-2A> Tsingle nucleotide variantPathogenicrs786204773GRCh37Chr 17, 4802681: 4802681
89CHRNDCHRND, GLU381LYSundetermined variantPathogenic
90CHRNDCHRND, 2.2-KB DELdeletionPathogenic
91SNAP25NM_003081.3(SNAP25): c.200T> A (p.Ile67Asn)single nucleotide variantPathogenicrs786205152GRCh37Chr 20, 10273566: 10273566
92LRP4NM_002334.3(LRP4): c.3697G> A (p.Glu1233Lys)single nucleotide variantPathogenicrs786205153GRCh38Chr 11, 46875806: 46875806
93LRP4NM_002334.3(LRP4): c.3830G> A (p.Arg1277His)single nucleotide variantPathogenicrs746136135GRCh38Chr 11, 46875551: 46875551
94RAPSNNM_005055.4(RAPSN): c.1083_1084dupCT (p.Tyr362Serfs)duplicationPathogenicrs786205885GRCh38Chr 11, 47438814: 47438815
95CHATNM_020549.4(CHAT): c.418C> T (p.Gln140Ter)single nucleotide variantPathogenicrs794727516GRCh37Chr 10, 50827801: 50827801
96RAPSNNM_005055.4(RAPSN): c.737C> T (p.Ala246Val)single nucleotide variantLikely pathogenicrs559933584GRCh37Chr 11, 47463427: 47463427
97DOK7NM_173660.4(DOK7): c.957delC (p.Lys320Serfs)deletionPathogenicrs794727884GRCh38Chr 4, 3492943: 3492943
98DOK7NM_173660.4(DOK7): c.1476_1485dupTCCAGTCTGT (p.Gly496Serfs)duplicationPathogenicrs797045040GRCh38Chr 4, 3493462: 3493471
99DOK7NM_173660.4(DOK7): c.1138dupG (p.Ala380Glyfs)duplicationPathogenicrs761899995GRCh37Chr 4, 3494851: 3494851
100DOK7NM_173660.4(DOK7): c.596delT (p.Ile199Thrfs)deletionPathogenicrs797045528GRCh37Chr 4, 3487329: 3487329
101MUSKNM_005592.3(MUSK): c.374G> T (p.Arg125Leu)single nucleotide variantLikely pathogenicrs375737188GRCh37Chr 9, 113457698: 113457698
102MUSKNM_005592.3(MUSK): c.79+2T> Gsingle nucleotide variantPathogenicrs200783529GRCh37Chr 9, 113431265: 113431265
103SCN4ANM_000334.4(SCN4A): c.737C> T (p.Ser246Leu)single nucleotide variantPathogenicrs80338951GRCh37Chr 17, 62045682: 62045682
104DOK7NM_173660.4(DOK7): c.1263dupC (p.Ser422Leufs)duplicationLikely pathogenic, Pathogenicrs606231129GRCh38Chr 4, 3493249: 3493249
105SCN4ANM_000334.4(SCN4A): c.4370G> A (p.Arg1457His)single nucleotide variantPathogenicGRCh38Chr 17, 63941912: 63941912
106CHRNA1CHRNA1, IVS3AS, G-A, -8single nucleotide variantPathogenic
107CHRNA1CHRNA1, ARG313TRPundetermined variantPathogenic
108GFPT1NM_001244710.1(GFPT1): c.331C> T (p.Arg111Cys)single nucleotide variantPathogenicrs201322234GRCh37Chr 2, 69590695: 69590695
109GFPT1GFPT1, 1-BP INS, 222AinsertionPathogenic
110GFPT1GFPT1, TRP240TERsingle nucleotide variantPathogenic
111GFPT1GFPT1, ASP348TYRsingle nucleotide variantPathogenic
112GFPT1NM_001244710.1(GFPT1): c.43A> G (p.Thr15Ala)single nucleotide variantPathogenicrs387906638GRCh37Chr 2, 69601210: 69601210
113GFPT1GFPT1, 1-BP DEL, NT621deletionPathogenic
114SURF1NM_003172.3(SURF1): c.679T> C (p.Trp227Arg)single nucleotide variantPathogenicrs398122806GRCh37Chr 9, 136219373: 136219373
115MUSKNM_005592.3(MUSK): c.1031C> G (p.Pro344Arg)single nucleotide variantPathogenicrs387906803GRCh37Chr 9, 113530210: 113530210
116DPAGT1NM_001382.3(DPAGT1): c.349G> A (p.Val117Ile)single nucleotide variantPathogenicrs387907243GRCh37Chr 11, 118971487: 118971487
117DPAGT1NM_001382.3(DPAGT1): c.324G> C (p.Met108Ile)single nucleotide variantPathogenicrs376039938GRCh37Chr 11, 118971512: 118971512
118DPAGT1NM_001382.3(DPAGT1): c.699dupC (p.Thr234Hisfs)duplicationPathogenicrs397515321GRCh37Chr 11, 118969142: 118969142
119DPAGT1NM_001382.3(DPAGT1): c.358C> A (p.Leu120Met)single nucleotide variantPathogenicrs387907244GRCh37Chr 11, 118971478: 118971478
120DPAGT1NM_001382.3(DPAGT1): c.791T> G (p.Val264Gly)single nucleotide variantPathogenicrs387907245GRCh37Chr 11, 118968691: 118968691
121NM_000080.3(CHRNE): c.223T> C (p.Trp75Arg)single nucleotide variantPathogenicrs193919341GRCh37Chr 17, 4805756: 4805756
122NM_000080.3(CHRNE): c.892_894delTCT (p.Ser298del)deletionPathogenicrs398122830GRCh37Chr 17, 4804111: 4804113
123NM_000080.3(CHRNE): c.710G> T (p.Arg237Leu)single nucleotide variantPathogenicrs201434993GRCh37Chr 17, 4804377: 4804377
124COX15NM_004376.5(COX15): c.1030T> C (p.Ser344Pro)single nucleotide variantPathogenicrs397514662GRCh37Chr 10, 101476176: 101476176
125COX15COX15, SER151TERundetermined variantPathogenic
126TACO1NM_016360.3(TACO1): c.472dupC (p.His158Profs)duplicationPathogenicrs587776513GRCh37Chr 17, 61683757: 61683757
127SCN4ANM_000334.4(SCN4A): c.4325T> A (p.Val1442Glu)single nucleotide variantPathogenicrs121908553GRCh37Chr 17, 62019317: 62019317
128MUSKMUSK, MET605ILEundetermined variantPathogenic
129MUSKNM_005592.3(MUSK): c.2180C> T (p.Ala727Val)single nucleotide variantPathogenicrs397515450GRCh37Chr 9, 113562838: 113562838
130COLQCOLQ, 215-BP DEL, NT107deletionPathogenic
131COLQNM_005677.3(COLQ): c.640G> T (p.Glu214Ter)single nucleotide variantPathogenicrs104893733GRCh37Chr 3, 15512120: 15512120
132COLQNM_005677.3(COLQ): c.506C> G (p.Ser169Ter)single nucleotide variantPathogenicrs104893734GRCh37Chr 3, 15516954: 15516954
133COLQNM_005677.3(COLQ): c.844A> T (p.Arg282Ter)single nucleotide variantPathogenicrs121908922GRCh37Chr 3, 15499803: 15499803
134COLQCOLQ, 1-BP DEL, 1082CdeletionPathogenic
135COLQCOLQ, 1-BP INS, 788CinsertionPathogenic
136COLQNM_005677.3(COLQ): c.1289A> C (p.Tyr430Ser)single nucleotide variantPathogenicrs121908923GRCh37Chr 3, 15495345: 15495345
137COLQNM_005677.3(COLQ): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs121908924GRCh37Chr 3, 15499704: 15499704
138COLQCOLQ, IVS16DS, A-G, +3single nucleotide variantPathogenic
139COLQNM_005677.3(COLQ): c.718G> T (p.Gly240Ter)single nucleotide variantPathogenicrs104893735GRCh37Chr 3, 15507944: 15507944
140COX10NM_001303.3(COX10): c.1007A> T (p.Asp336Val)single nucleotide variantPathogenicrs104894557GRCh37Chr 17, 14110205: 14110205
141COX10NM_001303.3(COX10): c.1007A> G (p.Asp336Gly)single nucleotide variantPathogenicrs104894557GRCh37Chr 17, 14110205: 14110205
142COX10NM_001303.3(COX10): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs387906383GRCh37Chr 17, 13972924: 13972924
143RAPSNNM_005055.4(RAPSN): c.264C> A (p.Asn88Lys)single nucleotide variantPathogenicrs104894299GRCh37Chr 11, 47469631: 47469631
144RAPSNNM_005055.4(RAPSN): c.41T> C (p.Leu14Pro)single nucleotide variantPathogenicrs104894300GRCh37Chr 11, 47470476: 47470476
145RAPSNNM_005055.4(RAPSN): c.549_553dupGTTCT (p.Phe185Cysfs)duplicationPathogenicrs786200904GRCh38Chr 11, 47442793: 47442797
146RAPSNRAPSN, 1-BP INS, 46CinsertionPathogenic
147RAPSNNM_005055.4(RAPSN): c.807C> A (p.Tyr269Ter)single nucleotide variantPathogenicrs104894301GRCh37Chr 11, 47463268: 47463268
148RAPSNNM_005055.4(RAPSN): c.-210A> Gsingle nucleotide variantPathogenicrs786200905GRCh38Chr 11, 47449174: 47449174
149RAPSNNM_005055.4(RAPSN): c.848T> C (p.Leu283Pro)single nucleotide variantLikely pathogenic, Pathogenicrs104894293GRCh37Chr 11, 47463227: 47463227
150RAPSNNM_005055.4(RAPSN): c.193-15C> Asingle nucleotide variantPathogenicrs45547231GRCh38Chr 11, 47448165: 47448165
151RAPSNNM_005055.4(RAPSN): c.490C> T (p.Arg164Cys)single nucleotide variantPathogenicrs104894294GRCh37Chr 11, 47469405: 47469405
152RAPSNNM_005055.4(RAPSN): c.133G> A (p.Val45Met)single nucleotide variantPathogenicrs121909254GRCh37Chr 11, 47470384: 47470384
153RAPSNNM_005055.4(RAPSN): c.484G> A (p.Glu162Lys)single nucleotide variantPathogenicrs121909255GRCh37Chr 11, 47469411: 47469411
154MUSKNM_005592.3(MUSK): c.2368G> A (p.Val790Met)single nucleotide variantPathogenicrs199476083GRCh37Chr 9, 113563026: 113563026
155MUSKMUSK, 1-BP INS, 220CinsertionPathogenic

Expression for genes affiliated with Congenital Myasthenic Syndrome

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Search GEO for disease gene expression data for Congenital Myasthenic Syndrome.

Pathways for genes affiliated with Congenital Myasthenic Syndrome

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2CHRNA1, SNAP25
2
Show member pathways
10.1CHRNA1, CHRND, CHRNE
310.1AGRN, LRP4, MUSK
4
Show member pathways
10.0ALG14, ALG2, DPAGT1
510.0AGRN, CHRNA1, MUSK, RAPSN
610.0CHRNA1, CHRNB1, CHRND, CHRNE
7
Show member pathways
9.9ALG14, ALG2, DPAGT1, GFPT1
8
Show member pathways
9.8CHAT, CHRNA1, CHRND, CHRNE, SNAP25

GO Terms for genes affiliated with Congenital Myasthenic Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:000560510.9AGRN, COLQ
2mitochondrial respiratory chainGO:000574610.7COX15, SURF1
3acetylcholine-gated channel complexGO:000589210.6CHRNA1, CHRNB1, CHRND, CHRNE
4neuromuscular junctionGO:003159410.5CHRNA1, COLQ, LRP4, MUSK, RAPSN
5neuron projectionGO:004300510.2CHRNA1, CHRNB1, CHRND, CHRNE, SNAP25
6postsynaptic membraneGO:00452119.8CHRNA1, CHRNB1, CHRND, CHRNE, MUSK, RAPSN
7synapseGO:00452029.2AGRN, CHRNB1, CHRND, CHRNE, DOK7, MUSK
8cell junctionGO:00300549.1AGRN, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ
9plasma membraneGO:00058869.1AGRN, CHRNA1, CHRNB1, CHRND, CHRNE, DOK7
10membraneGO:00160209.1ALG2, CHRNA1, CHRNB1, CHRND, CHRNE, DPAGT1

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular processGO:005090510.8CHRNA1, CHRND
2skeletal muscle acetylcholine-gated channel clusteringGO:007134010.7COLQ, LRP4, MUSK
3regulation of synaptic growth at neuromuscular junctionGO:000858210.7AGRN, COLQ, MUSK
4musculoskeletal movementGO:005088110.7CHRNA1, CHRND
5positive regulation of neuron apoptotic processGO:004352510.6AGRN, MUSK, RAPSN
6receptor clusteringGO:004311310.6AGRN, LRP4, MUSK
7skeletal muscle tissue growthGO:004863010.6CHRNA1, CHRND
8response to nicotineGO:003509410.6CHRNA1, CHRND, CHRNE
9neurological system processGO:005087710.5CHRNB1, CHRND, CHRNE
10respiratory chain complex IV assemblyGO:000853510.5COX15, SURF1
11skeletal muscle contractionGO:000300910.4CHRNA1, CHRNB1, CHRND, CHRNE
12cation transportGO:000681210.4CHRNA1, CHRNB1, CHRND, CHRNE
13neuromuscular synaptic transmissionGO:000727410.4CHRNA1, CHRNB1, CHRND, CHRNE
14cation transmembrane transportGO:009865510.4CHRNA1, CHRNB1, CHRND, CHRNE
15UDP-N-acetylglucosamine metabolic processGO:000604710.4DPAGT1, GFPT1
16muscle contractionGO:000693610.4CHRNB1, CHRND, CHRNE, SCN4A
17synaptic transmission, cholinergicGO:000727110.3CHRNA1, CHRNB1, CHRND, CHRNE, RAPSN
18ion transportGO:000681110.2CHRNA1, CHRNB1, CHRND, CHRNE, SCN4A
19dolichol-linked oligosaccharide biosynthetic processGO:000648810.1ALG14, ALG2, DPAGT1, GFPT1
20protein N-linked glycosylation via asparagineGO:001827910.1ALG14, ALG2, DPAGT1, GFPT1
21post-translational protein modificationGO:004368710.0ALG14, ALG2, DPAGT1, GFPT1
22regulation of membrane potentialGO:004239110.0CHRNA1, CHRNB1, CHRND, CHRNE
23neuromuscular junction developmentGO:00075289.8AGRN, CHRNA1, MUSK
24synaptic transmissionGO:00072689.5AGRN, CHAT, CHRNA1, CHRND, CHRNE, RAPSN

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

idNameGO IDScoreTop Affiliating Genes
1protein anchorGO:004349510.6ALG14, RAPSN
2ligand-gated ion channel activityGO:001527610.1CHRNB1, CHRND
3acetylcholine-activated cation-selective channel activityGO:000488910.1CHRNA1, CHRNB1, CHRND, CHRNE
4extracellular ligand-gated ion channel activityGO:000523010.0CHRNA1, CHRNB1, CHRND, CHRNE
5acetylcholine bindingGO:004216610.0CHRNA1, CHRNB1, CHRND, CHRNE
6acetylcholine receptor activityGO:00154649.7CHRNA1, CHRNB1, CHRND, CHRNE

Sources for 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