MCID: CNG001
MIFTS: 52

Congenital Myasthenic Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Congenital Myasthenic Syndrome

About this section
Sources:
11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 22GeneReviews, 23GeneTests, 25GTR, 47NINDS, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Congenital Myasthenic Syndrome:

Name: Congenital Myasthenic Syndrome 11 46 24 13 52
Congenital Myasthenia 22 46 23 24 47
Congenital Myasthenic Syndromes 22 23 24 25
Cms 46 24 52
Myasthenic Syndromes, Congenital 37 66
 
Congenital Myasthenic Syndrome Ib 66
Familial Limb-Girdle Myasthenia 11
Myasthenic Syndromes Congenital 48
Familial Infantile Myasthenia 1 11
Myasthenia - Congenital 47

Characteristics:

Orphanet epidemiological data:

52
congenital myasthenic syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom); Age of onset: Infancy,Neonatal; Age of death: any age

Classifications:



External Ids:

Disease Ontology11 DOID:3635
MeSH37 D020294
NCIt43 C84647
Orphanet52 ORPHA590
SNOMED-CT60 230672006
ICD10 via Orphanet29 G70.2
UMLS via Orphanet67 C0751882
MESH via Orphanet38 D020294

Summaries for Congenital Myasthenic Syndrome

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NIH Rare Diseases:46 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 associated with acetylcholine receptor deficiency, and has symptoms including facial paresis An important gene associated with Congenital Myasthenic Syndrome is DOK7 (Docking Protein 7), and among its related pathways are Acetylcholine Binding And Downstream Events and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include eye and skeletal muscle, and related mouse phenotypes are respiratory system and muscle.

Disease Ontology:11 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).

Genetics Home Reference:24 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.

NINDS:47 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.

Wikipedia:69 Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several... more...

GeneReviews summary for NBK1168

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 Snap25-Related Congenital Myasthenic Syndrome
Syt2-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 72)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency33.0CHRNB1, CHRNE, RAPSN
2congenital myasthenic syndrome associated with acetylcholine receptor deficiency33.0CHRNA1, CHRNB1, CHRND, CHRNE
3myasthenic syndrome, congenital, 1a, slow-channel32.5CHAT, CHRNA1, CHRND
4myasthenic syndrome, congenital, 3b, fast-channel30.8CHRNB1, CHRND
5myasthenic syndrome, congenital, 3a, slow-channel30.7CHRNB1, CHRND
6myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency30.7CHRNB1, CHRND
7myasthenic syndrome, congenital, 1b, fast-channel30.6CHAT, CHRNA1, CHRND
8slow-channel congenital myasthenic syndrome12.1
9congenital myasthenic syndrome with episodic apnea12.1
10musk-related congenital myasthenic syndrome12.0
11presynaptic congenital myasthenic syndromes12.0
12agrn-related congenital myasthenic syndrome11.9
13chrna1-related congenital myasthenic syndrome11.9
14postsynaptic congenital myasthenic syndromes11.9
15alg14-related congenital myasthenic syndrome without tubular aggregates11.9
16chat-related congenital myasthenic syndrome11.9
17chrnb1-related congenital myasthenic syndrome11.9
18chrnd-related congenital myasthenic syndrome11.9
19chrne-related congenital myasthenic syndrome11.9
20colq-related congenital myasthenic syndrome11.9
21dok7-related congenital myasthenic syndrome11.9
22gfpt1-related congenital myasthenic syndrome11.9
23rapsn-related congenital myasthenic syndrome11.9
24scn4a-related congenital myasthenic syndrome11.9
25snap25-related congenital myasthenic syndrome11.9
26syt2-related congenital myasthenic syndrome11.9
27congenital myasthenic syndromes with glycosylation defect11.9
28capillary malformation-arteriovenous malformation11.6
29myasthenic syndrome, congenital, 511.5
30myasthenic syndrome, congenital, 6, presynaptic11.4
31myasthenic syndrome, congenital, 1011.4
32myasthenic syndrome, congenital, 1611.4
33myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects11.2
34myasthenic syndrome, congenital, 4a, slow-channel11.2
35myasthenic syndrome, congenital, 13, with tubular aggregates11.2
36hereditary night blindness10.4MUSK, RAPSN
37porencephaly10.3CHRNE, MUSK, RAPSN
38epileptic encephalopathy, early infantile, 2510.3CHRNB1, CHRNE, RAPSN
39gingival overgrowth10.3CHRND, DOK7
40leukemia, chronic lymphocytic 110.3CHRNB1, MUSK, RAPSN
41primary angle-closure glaucoma10.2DPAGT1, MUSK
42mitochondrial complex iii deficiency, nuclear type 210.2CHRNB1, CHRNE, MUSK, RAPSN
43myasthenic syndrome, congenital, 7, presynaptic10.1
44myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency10.1
45myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency10.1
46myasthenic syndrome, congenital, 4b, fast-channel10.1
47myasthenic syndrome, congenital, 2a, slow-channel10.1
48myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.1
49myasthenia gravis10.0
50plica syndrome10.0CHRNA1, CHRND

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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UMLS symptoms related to Congenital Myasthenic Syndrome:


facial paresis

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
4-AminopyridinePhase 367504-24-51727
Synonyms:
.gamma.-Aminopyridine
275875_ALDRICH
36687_FLUKA
36687_RIEDEL
4 AP
4 Aminopyridine
4 Aminopyridine Sustained Release
4-AP
4-Aminopyridine
4-Aminopyridine 10
4-Aminopyridine Sustained Release
4-Pyridinamine
4-Pyridylamine
4-aminopyridine
5-22-09-00106 (Beilstein Handbook Reference)
504-24-5
A 0152
A0414
A78403_ALDRICH
AB1004971
AC-907/25014071
AC1L1C3R
AC1Q52BM
AI3-52547
AKOS000119896
Amaya
Amino-4 pyridine
Amino-4-Pyridine
Ampydin
Ampyra
Avitrol
Avitrol 200
BB_SC-6974
BRN 0105782
BSPBio_001562
Bio1_000353
Bio1_000842
Bio1_001331
Bio2_000282
Bio2_000762
C13728
C5H6N2
CHEBI:34385
CHEMBL284348
CID1727
Caswell No. 038
Compound 1861
D015761
D04127
Dalfampridine
DivK1c_000572
EINECS 207-987-9
EL-970
EPA Pesticide Chemical Code 069201
EU-0100032
FT-0083754
Fampridina
Fampridine
Fampridine (USAN/INN)
Fampridine SR
Fampridine [USAN:INN]
Fampridine-PR
Fampridine-SR
Fampridinum
HC150041
HMS1361O04
HMS1791O04
HMS1921H15
HMS1989O04
HMS2092F05
HMS501M14
HSDB 6037
IDI1_000572
IDI1_034032
InChI=1/C5H6N2/c6-5-1-3-7-4-2-5/h1-4H,(H2,6,7
KBio1_000572
 
KBio2_000282
KBio2_000635
KBio2_002850
KBio2_003203
KBio2_005418
KBio2_005771
KBio3_000563
KBio3_000564
KBio3_001888
KBioGR_000282
KBioGR_001505
KBioSS_000282
KBioSS_000635
LS-130202
Lopac-A-0152
Lopac0_000032
MLS000069400
Mi-W-3
MolPort-000-146-022
N07XX07
NCGC00015009-01
NCGC00015009-03
NCGC00015009-12
NCGC00024890-01
NCGC00024890-02
NCGC00024890-03
NCGC00024890-04
NCGC00024890-05
NCGC00024890-06
NCGC00024890-07
NCGC00024890-08
NCGC00024890-09
NCGC00024890-10
NINDS_000572
NSC 15041
NSC15041
Neurelan
Neurelan (TN)
P-Aminopyridine
PYRIDINE,4-AMINO
Philips 1861
Phillips 1861
Pimadin (free base)
Prc 1237
Pymadin
Pymadine
RCRA waste no. P008
SDCCGMLS-0066228.P001
SMR000058211
SPBio_001486
SPECTRUM1501130
STK298717
Spectrum2_001413
Spectrum3_000914
Spectrum4_001013
Spectrum5_001501
Spectrum_000155
Sustained Release, 4-Aminopyridine
TL8003344
Tocris-0940
UNII-BH3B64OKL9
UPCMLD-DP125
UPCMLD-DP125:001
VMI 10-3
VMI 103
VMI-10-3
VMI-103
VMI103
WLN: T6NJ DZ
[J.Pharmacol.Exp.Ther. 275:864 (1995)]
gamma-Aminopyridine
nchem.892-comp4
p-Aminopyridine
p-Aminopyridine [UN2671] [Poison]
p-Aminopyridine [UN2671] [Poison]
pyridin-4-amine
pyridin-4-ylamine
2
PseudoephedrinePhase 1, Phase 256990-82-47028
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
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 [INN:BAN]
Pseudoephedrine d-form
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
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
3
EphedrinePhase 1, Phase 2569299-42-39294
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Amifampridine Phosphate for the Treatment of 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 Amifampridine 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 Syndrome25
2 Congenital Myasthenic Syndromes23 SCN4A

Anatomical Context for Congenital Myasthenic Syndrome

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MalaCards organs/tissues related to Congenital Myasthenic Syndrome:

34
Eye, Skeletal muscle

Animal Models for Congenital Myasthenic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.4AGRN, CHRNE, DOK7, LRP4, MUSK, RAPSN
2MP:00053698.3AGRN, CHAT, CHRNE, COL13A1, DOK7, MUSK
3MP:00053867.1AGRN, CHAT, CHRNA1, CHRNE, COL13A1, DOK7
4MP:00107686.6AGRN, CHAT, CHRNA1, CHRNE, DOK7, DPAGT1
5MP:00036316.5AGRN, CHAT, CHRNA1, CHRNB1, CHRNE, COL13A1

Publications for Congenital Myasthenic Syndrome

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Articles related to Congenital Myasthenic Syndrome:

(show top 50)    (show all 189)
idTitleAuthorsYear
1
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. (26659129)
2016
2
Amifampridine phosphate in congenital myasthenic syndrome. (27348204)
2016
3
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. (26327126)
2015
4
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. (25707578)
2015
5
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome. (26282582)
2015
6
Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes. (25888793)
2015
7
Use of Next-Generation Sequencing as a Diagnostic Tool forA Congenital Myasthenic Syndrome. (25194721)
2014
8
Pharmacologic Treatment of Downstream of Tyrosine Kinase 7 Congenital Myasthenic Syndrome. (24425145)
2014
9
Congenital myasthenic syndromes and transient myasthenia gravis. (23909021)
2013
10
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. (23688972)
2013
11
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK. (24122059)
2013
12
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR. (23569079)
2013
13
A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance. (22382357)
2012
14
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. (22326364)
2012
15
Recurrent COLQ mutation in congenital myasthenic syndrome. (22490774)
2012
16
Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome. (23278575)
2012
17
A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR I/L221F mutation. (22178625)
2012
18
Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia. (21150643)
2011
19
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. (21316238)
2011
20
Motor endplate remodeling in some cases with congenital myasthenic syndrome. (20925004)
2010
21
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. (20012313)
2010
22
Electrophysiological study in synaptic congenital myasthenic syndrome: end-plate acetylcholinesterase deficiency. (19623452)
2009
23
Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency]. (19172815)
2009
24
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. (19837590)
2009
25
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
26
Dok-7/MuSK signaling and a congenital myasthenic syndrome. (19108574)
2008
27
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK. (16550915)
2005
28
An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). (15965226)
2005
29
MUSK, a new target for mutations causing congenital myasthenic syndrome. (15496425)
2004
30
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. (15328566)
2004
31
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. (15079006)
2004
32
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation. (14659409)
2004
33
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. (12771277)
2003
34
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction. (14592871)
2003
35
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. (12609506)
2003
36
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. (12796535)
2003
37
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. (12141316)
2002
38
A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome. (11960891)
2002
39
Congenital myasthenic syndromes: genetic defects of the neuromuscular junction. (11898587)
2002
40
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. (10211467)
1999
41
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
42
AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome. (9668240)
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
Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel. (7685992)
1993
47
Congenital myasthenic syndrome attributed to an abnormal interaction of acetylcholine with its receptor. (8357189)
1993
48
Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release. (8395161)
1993
49
Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations. (8429842)
1993
50
Congenital myasthenic syndrome in the dog breed Gammel Dansk HA,nsehund: clinical, electrophysiological, pharmacological and immunological comparison with acquired myasthenia gravis. (2782236)
1989

Variations for Congenital Myasthenic Syndrome

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Clinvar genetic disease variations for Congenital Myasthenic Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DOK7NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs)duplicationPathogenicrs606231128GRCh38Chr 4, 3493110: 3493113
2SCN4ANM_000334.4(SCN4A): c.737C> T (p.Ser246Leu)single nucleotide variantPathogenicrs80338951GRCh37Chr 17, 62045682: 62045682
3RAPSNNM_005055.4(RAPSN): c.264C> A (p.Asn88Lys)single nucleotide variantPathogenicrs104894299GRCh37Chr 11, 47469631: 47469631

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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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:000560510.2AGRN, COLQ
2acetylcholine-gated channel complexGO:000589210.0CHRNA1, CHRNB1, CHRND, CHRNE
3synapseGO:00452029.7AGRN, CHRNB1, DOK7, RAPSN
4postsynaptic membraneGO:00452119.2CHRNA1, CHRNB1, CHRND, CHRNE, MUSK, RAPSN
5neuromuscular junctionGO:00315948.8CHRNA1, COLQ, LRP4, MUSK, RAPSN
6cell junctionGO:00300548.1AGRN, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ
7plasma membraneGO:00058866.8AGRN, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular processGO:005090510.4CHRNA1, CHRND
2musculoskeletal movementGO:005088110.3CHRNA1, CHRND
3regulation of synaptic growth at neuromuscular junctionGO:000858210.2COLQ, MUSK
4skeletal muscle tissue growthGO:004863010.2CHRNA1, CHRND
5neuromuscular junction developmentGO:000752810.0CHRNA1, MUSK
6cation transportGO:000681210.0CHRNA1, CHRNB1, CHRND
7neuronal action potentialGO:00192289.9CHRNA1, SCN4A
8skeletal muscle contractionGO:00030099.8CHRNA1, CHRNB1, CHRND, CHRNE
9cation transmembrane transportGO:00986559.8CHRNA1, CHRNB1, CHRND, CHRNE
10neuromuscular synaptic transmissionGO:00072749.8CHRNA1, CHRNB1, CHRND, CHRNE
11dolichol-linked oligosaccharide biosynthetic processGO:00064889.8ALG14, DPAGT1
12UDP-N-acetylglucosamine metabolic processGO:00060479.7DPAGT1, GFPT1
13regulation of membrane potentialGO:00423919.6CHRNA1, CHRNB1, CHRND, CHRNE
14synaptic transmission, cholinergicGO:00072719.6CHRNA1, CHRNB1, CHRND, CHRNE, RAPSN
15receptor clusteringGO:00431139.6AGRN, LRP4
16muscle contractionGO:00069369.4CHRNB1, CHRND, CHRNE, SCN4A
17chemical synaptic transmission, postsynapticGO:00995659.4CHRNA1, CHRNB1, CHRND, CHRNE
18response to nicotineGO:00350949.3CHRNA1, CHRND, CHRNE
19skeletal muscle acetylcholine-gated channel clusteringGO:00713408.9COLQ, LRP4, MUSK, RAPSN

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:00154649.6CHRNA1, CHRNB1, CHRND, CHRNE
2acetylcholine-activated cation-selective channel activityGO:00048899.5CHRNA1, CHRNB1, CHRND, CHRNE
3acetylcholine bindingGO:00421669.5CHRNA1, CHRNB1, CHRND, CHRNE
4ligand-gated ion channel activityGO:00152769.4CHRNA1, CHRNB1, CHRND, CHRNE

Sources for Congenital Myasthenic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet