CMS
MCID: CNG001
MIFTS: 55

Congenital Myasthenic Syndrome (CMS) malady

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

Aliases & Classifications for Congenital Myasthenic Syndrome

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Myasthenic Syndrome:

Name: Congenital Myasthenic Syndrome 11 48 25 54 13
Congenital Myasthenia 23 48 24 25 49
Congenital Myasthenic Syndromes 23 24 25 27
Cms 48 25 54
Myasthenic Syndromes, Congenital 39 68
 
Congenital Myasthenic Syndrome Ib 68
Familial Limb-Girdle Myasthenia 11
Myasthenic Syndromes Congenital 50
Myasthenia - Congenital 49

Characteristics:

Orphanet epidemiological data:

54
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

GeneReviews:

23
Penetrance: in general, reported cms pathogenic variants have complete penetrance...


Classifications:



External Ids:

Disease Ontology11 DOID:3635
MeSH39 D020294
NCIt45 C84647
Orphanet54 ORPHA590
SNOMED-CT62 230672006
ICD10 via Orphanet31 G70.2
UMLS via Orphanet69 C0751882
MESH via Orphanet40 D020294

Summaries for Congenital Myasthenic Syndrome

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NIH Rare Diseases:48 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 congenital myasthenic syndrome 20 and congenital myasthenic syndrome 21, and has symptoms including facial paresis An important gene associated with Congenital Myasthenic Syndrome is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4), and among its related pathways are Biogenic Amine Synthesis and Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction). Affiliated tissues include eye and skeletal muscle, and related mouse phenotypes are muscle and behavior/neurological.

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:25 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:49 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:71 Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several... more...

GeneReviews 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 Congenital Myasthenic Syndrome 20
Congenital Myasthenic Syndrome 21 Congenital Myasthenic Syndrome 19
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
Col13a1-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 81)
idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome 2012.1
2congenital myasthenic syndrome 2112.1
3slow-channel congenital myasthenic syndrome12.0
4congenital myasthenic syndrome 1912.0
5col13a1-related congenital myasthenic syndrome12.0
6congenital myasthenic syndrome with episodic apnea11.9
7presynaptic congenital myasthenic syndromes11.9
8chrna1-related congenital myasthenic syndrome11.9
9colq-related congenital myasthenic syndrome11.9
10musk-related congenital myasthenic syndrome11.9
11postsynaptic congenital myasthenic syndromes11.8
12agrn-related congenital myasthenic syndrome11.8
13myasthenic syndrome, congenital, 1a, slow-channel11.8
14myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency11.8
15myasthenic syndrome, congenital, 511.8
16congenital myasthenic syndrome associated with acetylcholine receptor deficiency11.8
17alg14-related congenital myasthenic syndrome without tubular aggregates11.8
18chat-related congenital myasthenic syndrome11.8
19chrnb1-related congenital myasthenic syndrome11.8
20chrnd-related congenital myasthenic syndrome11.8
21chrne-related congenital myasthenic syndrome11.8
22dok7-related congenital myasthenic syndrome11.8
23gfpt1-related congenital myasthenic syndrome11.8
24rapsn-related congenital myasthenic syndrome11.8
25scn4a-related congenital myasthenic syndrome11.8
26snap25-related congenital myasthenic syndrome11.8
27syt2-related congenital myasthenic syndrome11.8
28congenital myasthenic syndromes with glycosylation defect11.8
29myasthenic syndrome, congenital, 6, presynaptic11.7
30myasthenic syndrome, congenital, 1011.7
31myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects11.7
32myasthenic syndrome, congenital, 7, presynaptic11.7
33myasthenic syndrome, congenital, 1b, fast-channel11.7
34myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency11.7
35myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency11.7
36myasthenic syndrome, congenital, 4a, slow-channel11.7
37myasthenic syndrome, congenital, 1611.7
38myasthenic syndrome, congenital, 13, with tubular aggregates11.6
39myasthenic syndrome, congenital, 3a, slow-channel11.6
40myasthenic syndrome, congenital, 3b, fast-channel11.6
41myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency11.6
42myasthenic syndrome, congenital, 4b, fast-channel11.6
43myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency11.6
44myasthenic syndrome, congenital, 14, with tubular aggregates11.6
45capillary malformation-arteriovenous malformation11.6
46myasthenic syndrome, congenital, 1711.6
47myasthenic syndrome, congenital, 15, without tubular aggregates11.5
48myasthenic syndrome, congenital, 1811.5
49myasthenia, congenital, 12, with tubular aggregates11.5
50myasthenic syndrome, congenital, 2a, slow-channel11.5

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



Diseases related to congenital myasthenic syndrome

Symptoms & Phenotypes for Congenital Myasthenic Syndrome

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UMLS symptoms related to Congenital Myasthenic Syndrome:


facial paresis

MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.0ACHE, AGRN, CHAT, CHRNE, COL13A1, DOK7
2MP:00053869.9ACHE, AGRN, CHAT, CHRNA1, CHRNE, COL13A1
3MP:00036319.6ACHE, AGRN, CHAT, CHRNA1, CHRNB1, CHRNE
4MP:00107689.6ACHE, AGRN, CHAT, CHRNA1, CHRNE, DOK7
5MP:00053889.3ACHE, AGRN, CHAT, CHRNE, DOK7, LRP4

Drugs & Therapeutics for Congenital Myasthenic Syndrome

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
4-AminopyridineapprovedPhase 369504-24-51727
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
23,4-diaminopyridinePhase 320
3Potassium Channel BlockersPhase 3180
4
EphedrineapprovedPhase 1, Phase 2628299-42-39294
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
5
PseudoephedrineapprovedPhase 1, Phase 262890-82-47028
Synonyms:
( )-Pseudoephedrine
(+) threo-2-(methylamino)-1-phenyl-1-propanol
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-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-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-(+)-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
pseudoéphédrine
trans-Ephedrine
ψ-ephedrine
6Neurotransmitter AgentsPhase 1, Phase 218340
7Respiratory System AgentsPhase 1, Phase 24997
8Vasoconstrictor AgentsPhase 1, Phase 22122
9Peripheral Nervous System AgentsPhase 1, Phase 223689
10Nasal DecongestantsPhase 1, Phase 2598
11Central Nervous System StimulantsPhase 1, Phase 22211
12Anti-Asthmatic AgentsPhase 1, Phase 23488
13Adrenergic AgentsPhase 1, Phase 25352
14Autonomic AgentsPhase 1, Phase 210150
15Bronchodilator AgentsPhase 1, Phase 22965
16AlbuterolPhase 1429
17Tocolytic AgentsPhase 1739
18Adrenergic beta-2 Receptor AgonistsPhase 1957
19Adrenergic AgonistsPhase 13027
20Adrenergic beta-AgonistsPhase 11714

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Amifampridine Phosphate for the Treatment of Congenital Myasthenic SyndromesRecruitingNCT02562066Phase 3
2Ephedrine for the Treatment of Congenital MyastheniaUnknown statusNCT00541216Phase 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
6Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
7Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia and Lambert-Eaton SyndromeAvailableNCT03062631
8Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus PatientsAvailableNCT02189720
93,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM)AvailableNCT02012933
10Treatment Use of 3,4-DiaminopyridineAvailableNCT01765140
11Treatment 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 Syndrome27
2 Congenital Myasthenic Syndromes24 SCN4A

Anatomical Context for Congenital Myasthenic Syndrome

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MalaCards organs/tissues related to Congenital Myasthenic Syndrome:

36
Eye, Skeletal muscle

Publications for Congenital Myasthenic Syndrome

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Articles related to Congenital Myasthenic Syndrome:

(show top 50)    (show all 198)
idTitleAuthorsYear
1
COLQ-Related Congenital Myasthenic Syndrome and Response to Salbutamol Therapy. (28221310)
2017
2
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. (28253535)
2017
3
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. (28433477)
2017
4
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop. (28221305)
2017
5
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome. (28168212)
2017
6
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. (27748205)
2017
7
A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report. (27717316)
2016
8
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. (26659129)
2016
9
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. (26782015)
2016
10
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. (27259756)
2016
11
Amifampridine phosphate in congenital myasthenic syndrome. (27348204)
2016
12
Rapsyn congenital myasthenic syndrome worsened by fluoxetine. (27397848)
2016
13
Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency. (26993635)
2016
14
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. (27569547)
2016
15
Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review. (27588369)
2016
16
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. (27590285)
2016
17
A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family. (27779167)
2016
18
Is the serum creatine kinase level elevated in congenital myasthenic syndrome? (27151963)
2016
19
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. (28024842)
2016
20
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up. (27634344)
2016
21
Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family. (26789281)
2016
22
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. (25707578)
2015
23
Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes. (25888793)
2015
24
A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. (26429099)
2015
25
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. (26327126)
2015
26
Congenital myasthenic syndrome caused by mutations in DPAGT. (25500013)
2015
27
Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis. (26363966)
2015
28
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. (26133662)
2015
29
A severe congenital myasthenic syndrome with 'dropped head' caused by novel MUSK mutations. (25900532)
2015
30
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. (26080897)
2015
31
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII I+1 Chain. (26626625)
2015
32
Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome. (25562515)
2015
33
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome. (25765662)
2015
34
Effective Treatment of Albuterol in DOK7 Congenital Myasthenic Syndrome in Children. (26552645)
2015
35
Two cases of congenital myasthenic syndrome with vocal cord paralysis. (25695962)
2015
36
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome. (26282582)
2015
37
Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family. (24938146)
2014
38
Use of Next-Generation Sequencing as a Diagnostic Tool forA Congenital Myasthenic Syndrome. (25194721)
2014
39
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. (24951643)
2014
40
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. (24183479)
2014
41
Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits. (25264167)
2014
42
Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. (25448156)
2014
43
A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome. (25166616)
2014
44
Pharmacologic Treatment of Downstream of Tyrosine Kinase 7 Congenital Myasthenic Syndrome. (24425145)
2014
45
Familial Dok7 congenital myasthenic syndrome responsive to salbutamol. (25033858)
2014
46
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK. (24122059)
2013
47
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR. (23569079)
2013
48
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. (23790237)
2013
49
Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. (23281026)
2013
50
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. (23404334)
2013

Variations for Congenital Myasthenic Syndrome

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Clinvar genetic disease variations for Congenital Myasthenic Syndrome:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1AGRNNM_ 198576.3(AGRN): c.5179G> T (p.Val1727Phe)SNVPathogenicrs587777298GRCh37Chr 1, 986143: 986143
2AGRNNM_ 198576.3(AGRN): c.1057C> T (p.Gln353Ter)SNVPathogenicrs587777299GRCh37Chr 1, 976962: 976962
3DOK7NM_ 173660.4(DOK7): c.1124_ 1127dupTGCC (p.Ala378Serfs)duplicationPathogenicrs606231128GRCh38Chr 4, 3493110: 3493113
4CHATNM_ 020549.4(CHAT): c.914T> C (p.Ile305Thr)SNVPathogenicrs75466054GRCh37Chr 10, 50833680: 50833680
5AGRNNM_ 198576.3(AGRN): c.5125G> C (p.Gly1709Arg)SNVPathogenicrs199476396GRCh37Chr 1, 985955: 985955
6CHRNENM_ 000080.3(CHRNE): c.130dupG (p.Glu44GlyfsTer3)duplicationPathogenicrs762368691GRCh38Chr 17, 4902680: 4902680
7CHRNENM_ 000080.3(CHRNE): c.1327delG (p.Glu443LysfsTer64)deletionPathogenicrs763258280GRCh37Chr 17, 4802186: 4802186
8CHRNENM_ 000080.3(CHRNE): c.1353dupG (p.Asn452GlufsTer4)duplicationPathogenicrs773526895GRCh38Chr 17, 4898865: 4898865
9CHRNENG_ 008029.2: g.4107_ 5396del1290insCGCATCCAGAindelPathogenicGRCh38Chr 17, 4902680: 4903969
10AGRNNM_ 198576.3(AGRN): c.226G> A (p.Gly76Ser)SNVPathogenicrs756623659GRCh38Chr 1, 1022225: 1022225
11AGRNNM_ 198576.3(AGRN): c.314A> T (p.Asn105Ile)SNVPathogenicrs879253787GRCh38Chr 1, 1022313: 1022313
12AGRNNM_ 198576.3(AGRN): c.1362dupC (p.Ser455GlnfsTer8)duplicationPathogenicrs879253788GRCh38Chr 1, 1042140: 1042140
13AGRNNM_ 198576.3(AGRN): c.5023G> A (p.Gly1675Ser)SNVPathogenicrs764160563GRCh38Chr 1, 1050473: 1050473
14AGRNNM_ 198576.3(AGRN): c.5611G> A (p.Gly1871Arg)SNVPathogenicrs763818876GRCh38Chr 1, 1051775: 1051775
15AGRN1p36.33 deletion (0.48 Mb)deletionPathogenic
16SCN4ANM_ 000334.4(SCN4A): c.4360C> T (p.Arg1454Trp)SNVPathogenicrs879253789GRCh37Chr 17, 62019282: 62019282
17RAPSNNM_ 005055.4(RAPSN): c.-199C> GSNVPathogenicrs886037842GRCh37Chr 11, 47470715: 47470715
18SCN4ANM_ 000334.4(SCN4A): c.4325T> A (p.Val1442Glu)SNVPathogenicrs121908553GRCh37Chr 17, 62019317: 62019317
19RAPSNNM_ 005055.4(RAPSN): c.-210A> GSNVPathogenicrs786200905GRCh38Chr 11, 47449174: 47449174

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.2ACHE, CHAT
210.2ACHE, CHAT
310.2ACHE, CHAT
4
Show member pathways
10.1CHRNA1, CHRND, CHRNE
510.1AGRN, LRP4, MUSK
610.0CHRNA1, CHRNB1, CHRND, CHRNE
7
Show member pathways
9.8ALG14, DPAGT1, GFPT1, GMPPB
89.8AGRN, CHRNA1, MUSK, RAPSN, UTRN

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:000560510.9ACHE, AGRN, COLQ
2acetylcholine-gated channel complexGO:000589210.8CHRNA1, CHRNB1, CHRND, CHRNE
3neuromuscular junctionGO:003159410.3ACHE, CHRNA1, COLQ, LRP4, MUSK, RAPSN
4synaptic cleftGO:004308310.2ACHE, COLQ
5postsynaptic membraneGO:004521110.1CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, MUSK
6cell junctionGO:00300549.8ACHE, AGRN, CHRNA1, CHRNB1, CHRND, CHRNE
7plasma membraneGO:00058869.3ACHE, AGRN, CHRNA1, CHRNB1, CHRND, CHRNE
8synapseGO:00452029.2ACHE, AGRN, CHRNA1, CHRNB1, CHRND, CHRNE
9membraneGO:00160209.1ACHE, AGRN, ALG14, CHRNA1, CHRNB1, CHRND

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1acetylcholine catabolic process in synaptic cleftGO:000150710.9ACHE, COLQ
2dolichol-linked oligosaccharide biosynthetic processGO:000648810.9ALG14, DPAGT1
3neurotransmitter biosynthetic processGO:004213610.8ACHE, CHAT
4musculoskeletal movementGO:005088110.8CHRNA1, CHRND
5neurotransmitter catabolic processGO:004213510.8ACHE, COLQ
6neuromuscular processGO:005090510.8CHRNA1, CHRND
7cation transportGO:000681210.8CHRNA1, CHRNB1, CHRND
8receptor clusteringGO:004311310.8AGRN, LRP4
9regulation of synaptic growth at neuromuscular junctionGO:000858210.8COLQ, MUSK
10cation transmembrane transportGO:009865510.7CHRNA1, CHRNB1, CHRND, CHRNE
11neuromuscular junction developmentGO:000752810.7CHRNA1, MUSK, UTRN
12excitatory postsynaptic potentialGO:006007910.7CHRNA1, CHRNB1, CHRND, CHRNE
13skeletal muscle tissue growthGO:004863010.6CHRNA1, CHRND
14neuromuscular synaptic transmissionGO:000727410.6CHRNA1, CHRNB1, CHRND, CHRNE
15response to nicotineGO:003509410.6CHRNA1, CHRND, CHRNE
16ion transmembrane transportGO:003422010.6CHRNA1, CHRNB1, CHRND, CHRNE, SCN4A
17regulation of membrane potentialGO:004239110.5CHRNA1, CHRNB1, CHRND, CHRNE
18ion transportGO:000681110.5CHRNA1, CHRNB1, CHRND, CHRNE, SCN4A
19muscle contractionGO:000693610.5CHRNB1, CHRND, CHRNE, SCN4A, UTRN
20skeletal muscle contractionGO:000300910.5CHRNA1, CHRNB1, CHRND
21skeletal muscle acetylcholine-gated channel clusteringGO:007134010.4COLQ, LRP4, MUSK, RAPSN
22regulation of postsynaptic membrane potentialGO:006007810.4CHRNA1, CHRNB1, CHRND, CHRNE, SCN4A
23synaptic transmission, cholinergicGO:00072719.9CHRNA1, CHRNB1, CHRND, CHRNE, RAPSN

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:001546410.7CHRNA1, CHRNB1, CHRNE
2laminin bindingGO:004323610.6ACHE, AGRN
3acetylcholine-gated cation-selective channel activityGO:002284810.6CHRNA1, CHRNB1, CHRND, CHRNE
4extracellular ligand-gated ion channel activityGO:000523010.5CHRNA1, CHRNB1, CHRND, CHRNE
5ion channel activityGO:000521610.4CHRNA1, CHRNB1, CHRND, SCN4A
6acetylcholine bindingGO:004216610.4ACHE, CHRNA1, CHRNB1, CHRND, CHRNE
7ligand-gated ion channel activityGO:001527610.0CHRNA1, CHRNB1, CHRND, CHRNE

Sources for Congenital Myasthenic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet