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:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Congenital Myasthenic Syndrome, Aliases & Descriptions:

Name: Congenital Myasthenic Syndrome 9 41 21 11 47
Congenital Myasthenia 19 41 21 42 60
Congenital Myasthenic Syndromes 19 20 21
Myasthenic Syndromes Congenital 43 22
Cms 41 21
 
Congenital Myasthenic Syndrome Ib 60
Myasthenic Syndromes, Congenital 60
Familial Infantile Myasthenia 1 9
Familial Limb-Girdle Myasthenia 9
Myasthenia - Congenital 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

47
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 Ontology9 DOID:3635
MeSH33 D020294
NCIt38 C84647
Orphanet47 590
MESH via Orphanet34 D020294
ICD10 via Orphanet26 G70.2
UMLS via Orphanet61 C0751882

Summaries for Congenital Myasthenic Syndrome

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NIH Rare Diseases:41 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, slow-channel congenital and myasthenic syndrome, fast-channel congenital. An important gene associated with Congenital Myasthenic Syndrome is CHRND (cholinergic receptor, nicotinic, delta (muscle)), and among its related pathways are Neurotransmitter Release Cycle and Activation of Nicotinic Acetylcholine Receptors. The compounds alpha-bungarotoxin and galantamine have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle, and related mouse phenotypes are respiratory system and muscle.

Disease Ontology:9 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:21 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:42 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:63 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:

Chat-Related Congenital Myasthenic Syndrome Chrne-Related Congenital Myasthenic Syndrome
Musk-Related Congenital Myasthenic Syndrome Rapsn-Related Congenital Myasthenic Syndrome
Colq-Related Congenital Myasthenic Syndrome Scn4a-Related Congenital Myasthenic Syndrome
Chrna1-Related Congenital Myasthenic Syndrome Chrnb1-Related Congenital Myasthenic Syndrome
Chrnd-Related Congenital Myasthenic Syndrome Dok7-Related Congenital Myasthenic Syndrome
Agrn-Related Congenital Myasthenic Syndrome Gfpt1-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 167)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, slow-channel congenital31.5CHRNE, CHRND, CHRNA1, CHRNB1
2myasthenic syndrome, fast-channel congenital31.1CHRND, CHRNA1, CHRNE
3endplate acetylcholinesterase deficiency31.1COLQ
4myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency31.0CHRNE, MUSK, RAPSN
5myasthenia, limb-girdle, familial30.7DOK7, AGRN
6myasthenia gravis30.5CHRNA1, AGRN, RAPSN, MUSK, LRP4
7myopathy29.8CHRNB1, SCN4A, CHRNE, CHRND, DOK7, COX10
8congenital myasthenic syndrome with episodic apnea10.5
9synaptic congenital myasthenic syndromes10.5
10myasthenic syndrome, congenital, with tubular aggregates 210.5
11hepatocellular carcinoma10.5
12presynaptic congenital myasthenic syndromes10.5
13fetal akinesia deformation sequence10.4RAPSN, DOK7
14musk-related congenital myasthenic syndrome10.4
15chrna1-related congenital myasthenic syndrome10.4
16postsynaptic congenital myasthenic syndromes10.4
17renal cell carcinoma10.4
18chat-related congenital myasthenic syndrome10.4
19chrne-related congenital myasthenic syndrome10.4
20rapsn-related congenital myasthenic syndrome10.4
21colq-related congenital myasthenic syndrome10.4
22scn4a-related congenital myasthenic syndrome10.4
23chrnb1-related congenital myasthenic syndrome10.4
24chrnd-related congenital myasthenic syndrome10.4
25dok7-related congenital myasthenic syndrome10.4
26agrn-related congenital myasthenic syndrome10.4
27gfpt1-related congenital myasthenic syndrome10.4
28congenital myasthenic syndromes with glycosylation defect10.4
29multiple pterygium syndrome, lethal type10.4CHRNA1, CHRND
30chiari malformation10.3
31adenocarcinoma10.3
32myasthenic syndrome, acetazolamide-responsive10.3
33nicotine dependence, protection against10.3CHRNB1
34capillary malformation-arteriovenous malformation10.2
35insulinoma10.2
36cerebritis10.2
37thyroiditis10.2
38chiari malformation type 210.2
39congenital disorder of glycosylation, type in10.2DPAGT1, ALG2
40neuropathy10.2CHRNB1, CHRNE, CHRND, DOK7, RAPSN
41malaria10.2
42cervicitis10.2
43peritonitis10.2
44renal cell carcinoma 410.2
45prostate cancer10.1
46lung cancer10.1
47melanocytic nevus syndrome, congenital, somatic10.1
48megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.1
49hepatitis10.1
50liver cirrhosis10.1

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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Drug clinical trials:

Search ClinicalTrials for Congenital Myasthenic Syndrome

Search NIH Clinical Center for Congenital Myasthenic Syndrome

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 Syndromes20 SCN4A
2 Congenital Myasthenic Syndromes Multi-Gene Panels20
3 Congenital Myasthenic Syndrome22

Anatomical Context for Congenital Myasthenic Syndrome

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MalaCards organs/tissues related to Congenital Myasthenic Syndrome:

31
Eye, Skeletal muscle

Animal Models for Congenital Myasthenic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.0LRP4, MUSK, CHRNE, DOK7, RAPSN, AGRN
2MP:00053698.5AGRN, SCN4A, RAPSN, COX15, COX10, CHRNE
3MP:00053787.6AGRN, COLQ, COX10, CHRNE, CHAT, LRP4
4MP:00036317.4RAPSN, LRP4, SURF1, MUSK, CHRNB1, CHRNE
5MP:00053867.3SCN4A, SURF1, MUSK, CHAT, CHRNE, CHRNA1
6MP:00107686.8AGRN, LRP4, SCN4A, SURF1, MUSK, CHAT

Publications for Congenital Myasthenic Syndrome

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Articles related to Congenital Myasthenic Syndrome:

(show top 50)    (show all 166)
idTitleAuthorsYear
1
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. (25707578)
2015
2
A severe congenital myasthenic syndrome with 'dropped head' caused by novel MUSK mutations. (25900532)
2015
3
Use of Next-Generation Sequencing as a Diagnostic Tool forA Congenital Myasthenic Syndrome. (25194721)
2014
4
Familial Dok7 congenital myasthenic syndrome responsive to salbutamol. (25033858)
2014
5
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. (23790237)
2013
6
Congenital myasthenic syndromes and transient myasthenia gravis. (23909021)
2013
7
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. (23688972)
2013
8
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. (23404334)
2013
9
A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance. (22382357)
2012
10
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. (22326364)
2012
11
Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia. (21150643)
2011
12
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. (21316238)
2011
13
Motor endplate remodeling in some cases with congenital myasthenic syndrome. (20925004)
2010
14
Congenital myasthenic syndrome with episodic apnea. (19520274)
2009
15
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. (19251977)
2009
16
Electrophysiological study in synaptic congenital myasthenic syndrome: end-plate acetylcholinesterase deficiency. (19623452)
2009
17
Temporary diazepam responsive apneic attacks and congenital myasthenic syndrome. (19289695)
2009
18
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
19
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. (17355552)
2007
20
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. (17439981)
2007
21
Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. (17586598)
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:

6 (show all 128)
id Gene Variation Type Significance SNP ID Assembly Location
1AGRNNM_198576.3(AGRN): c.5179G> T (p.Val1727Phe)single nucleotide variantPathogenicGRCh37Chr 1, 986143: 986143
2AGRNNM_198576.3(AGRN): c.1057C> T (p.Gln353Ter)single nucleotide variantPathogenicGRCh37Chr 1, 976962: 976962
3DOK7DOK7, 4-BP DUP, 1124TGCCduplicationPathogenic
4DOK7DOK7, 1-BP INS, 1263CinsertionPathogenic
5DOK7DOK7, 4-BP DEL, 548TCCTdeletionPathogenic
6SURF1SURF1, 765C-Tsingle nucleotide variantPathogenic
7SURF1SURF1, IVS4, T-C, +2single nucleotide variantPathogenic
8SURF1SURF1, 2-BP INS/10-BP DEL, NT326indelPathogenic
9DOK7DOK7, 4-BP DUP, 1339CTGGduplicationPathogenic
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
20DOK7DOK7, 1-BP INS, 1143CinsertionPathogenic
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
24DOK7DOK7, IVS2, G-T, -1single nucleotide variantPathogenic
25DOK7DOK7, 1-BP INS, 1378CinsertionPathogenic
26CHRNA1NM_001039523.2(CHRNA1): c.812C> A (p.Ser271Tyr)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
27CHRNA1NM_001039523.2(CHRNA1): c.812C> T (p.Ser271Phe)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
28NM_000080.3(CHRNE): c.421C> A (p.Pro141Thr)single nucleotide variantPathogenicrs483353045GRCh37Chr 17, 4805306: 4805306
29CHATCHAT, 2-BP INS, 523CCinsertionPathogenic
30CHATNM_020549.4(CHAT): c.631C> G (p.Pro211Ala)single nucleotide variantPathogenicrs121912815GRCh37Chr 10, 50828592: 50828592
31CHATNM_020549.4(CHAT): c.1321G> A (p.Glu441Lys)single nucleotide variantPathogenicrs121912816GRCh37Chr 10, 50856592: 50856592
32CHATNM_020549.4(CHAT): c.1516G> T (p.Val506Leu)single nucleotide variantPathogenicrs121912817GRCh37Chr 10, 50859934: 50859934
33CHATNM_020549.4(CHAT): c.1444A> G (p.Arg482Gly)single nucleotide variantPathogenicrs121912818GRCh37Chr 10, 50857615: 50857615
34CHATNM_020549.4(CHAT): c.1679G> A (p.Arg560His)single nucleotide variantPathogenicrs121912819GRCh37Chr 10, 50863185: 50863185
35CHATNM_020549.4(CHAT): c.629T> C (p.Leu210Pro)single nucleotide variantPathogenicrs121912820GRCh37Chr 10, 50828590: 50828590
36CHATNM_020549.4(CHAT): c.1493C> T (p.Ser498Leu)single nucleotide variantPathogenicrs121912821GRCh37Chr 10, 50857664: 50857664
37CHATNM_020549.4(CHAT): c.914T> C (p.Ile305Thr)single nucleotide variantPathogenicrs75466054GRCh37Chr 10, 50833680: 50833680
38CHATNM_020549.4(CHAT): c.1258C> T (p.Arg420Cys)single nucleotide variantPathogenicrs121912822GRCh37Chr 10, 50854697: 50854697
39CHATNM_020549.4(CHAT): c.1007T> C (p.Ile336Thr)single nucleotide variantPathogenicrs121912823GRCh37Chr 10, 50835727: 50835727
40AGRNNM_198576.3(AGRN): c.5125G> C (p.Gly1709Arg)single nucleotide variantPathogenicrs199476396GRCh37Chr 1, 985955: 985955
41NM_000080.3(CHRNE): c.850A> C (p.Thr284Pro)single nucleotide variantPathogenicrs121909510GRCh37Chr 17, 4804155: 4804155
42NM_000080.3(CHRNE): c.865C> T (p.Leu289Phe)single nucleotide variantPathogenicrs121909511GRCh37Chr 17, 4804140: 4804140
43NM_000080.3(CHRNE): c.500G> T (p.Arg167Leu)single nucleotide variantPathogenicrs121909514GRCh37Chr 17, 4805227: 4805227
44NM_000080.3(CHRNE): c.422C> T (p.Pro141Leu)single nucleotide variantPathogenicrs121909512GRCh37Chr 17, 4805305: 4805305
45NM_000080.3(CHRNE): c.250C> T (p.Arg84Ter)single nucleotide variantPathogenicrs121909513GRCh37Chr 17, 4805606: 4805606
46CHRNECHRNE, 1-BP DEL, 911TdeletionPathogenic
47CHRNECHRNE, IVS4DS, G-A, +1single nucleotide variantPathogenic
48CHRNECHRNE, 1-BP DEL, 1030CdeletionPathogenic
49NM_000080.3(CHRNE): c.721C> T (p.Leu241Phe)single nucleotide variantPathogenicrs28999110GRCh37Chr 17, 4804366: 4804366
50CHRNECHRNE, 156C-Tsingle nucleotide variantPathogenic
51CHRNECHRNE, 1-BP DEL, 1267GdeletionPathogenic
52CHRNECHRNE, 1-BP INS, 1101TinsertionPathogenic
53CHRNECHRNE, 1-BP INS, 1293GinsertionPathogenic
54CHRNECHRNE, 7-BP DEL, 553deletionPathogenic
55CHRNENM_000080.3(CHRNE): c.991C> T (p.Arg331Trp)single nucleotide variantPathogenicrs121909515GRCh37Chr 17, 4802804: 4802804
56CHRNENM_000080.3(CHRNE): c.37G> A (p.Gly13Arg)single nucleotide variantPathogenicrs372635387GRCh37Chr 17, 4806322: 4806322
57NM_000080.3(CHRNE): c.488C> T (p.Ser163Leu)single nucleotide variantPathogenicrs121909516GRCh37Chr 17, 4805239: 4805239
58CHRNENM_000080.3(CHRNE): c.1291G> C (p.Ala431Pro)single nucleotide variantPathogenicrs121909517GRCh37Chr 17, 4802331: 4802331
59CHRNECHRNE, IVS5AS, G-A, -16single nucleotide variantPathogenic
60CHRNDNM_000751.2(CHRND): c.866C> T (p.Ser289Phe)single nucleotide variantPathogenicrs121909502GRCh37Chr 2, 233396107: 233396107
61CHRNDNM_000751.2(CHRND): c.812C> A (p.Pro271Gln)single nucleotide variantPathogenicrs121909503GRCh37Chr 2, 233394841: 233394841
62CHRNDNM_000751.2(CHRND): c.236T> A (p.Ile79Lys)single nucleotide variantPathogenicrs121909509GRCh37Chr 2, 233392148: 233392148
63CHRNDNM_000751.2(CHRND): c.238G> A (p.Glu80Lys)single nucleotide variantPathogenicrs121909504GRCh37Chr 2, 233392150: 233392150
64CHRNDCHRND, 2-BP DEL, 756AGdeletionPathogenic
65CHRNDNM_000751.2(CHRND): c.188T> C (p.Leu63Pro)single nucleotide variantPathogenicrs121909508GRCh37Chr 2, 233391374: 233391374
66CHRNB1NM_000747.2(CHRNB1): c.865G> A (p.Val289Met)single nucleotide variantPathogenicrs137852810GRCh37Chr 17, 7357660: 7357660
67CHRNB1NM_000747.2(CHRNB1): c.853C> A (p.Leu285Met)single nucleotide variantPathogenicrs137852811GRCh37Chr 17, 7357648: 7357648
68CHRNB1CHRNB1, 9-BP DEL, NT1276deletionPathogenic
69CHRNB1CHRNB1, EX8DELdeletionPathogenic
70CHRNA1NM_001039523.2(CHRNA1): c.786C> G (p.Asn262Lys)single nucleotide variantPathogenicrs137852798GRCh37Chr 2, 175618298: 175618298
71CHRNA1NM_001039523.2(CHRNA1): c.601G> A (p.Val201Met)single nucleotide variantPathogenicrs137852799GRCh37Chr 2, 175618961: 175618961
72CHRNA1NM_001039523.2(CHRNA1): c.896C> T (p.Thr299Ile)single nucleotide variantPathogenicrs137852800GRCh37Chr 2, 175614855: 175614855
73CHRNA1NM_001039523.2(CHRNA1): c.592G> A (p.Gly198Ser)single nucleotide variantPathogenicrs137852801GRCh37Chr 2, 175618970: 175618970
74CHRNA1NM_001039523.2(CHRNA1): c.941G> T (p.Ser314Ile)single nucleotide variantPathogenicrs137852802GRCh37Chr 2, 175614810: 175614810
75CHRNA1NM_001039523.2(CHRNA1): c.880G> T (p.Val294Phe)single nucleotide variantPathogenicrs137852803GRCh37Chr 2, 175614871: 175614871
76CHRNA1NM_001039523.2(CHRNA1): c.988G> A (p.Val330Ile)single nucleotide variantPathogenicrs137852804GRCh37Chr 2, 175614763: 175614763
77CHRNA1NM_001039523.2(CHRNA1): c.832T> G (p.Phe278Val)single nucleotide variantPathogenicrs137852805GRCh37Chr 2, 175618252: 175618252
78CHRNA1NM_001039523.2(CHRNA1): c.901T> C (p.Phe301Leu)single nucleotide variantPathogenicrs137852806GRCh37Chr 2, 175614850: 175614850
79CHRNA1NM_001039523.2(CHRNA1): c.529G> C (p.Val177Leu)single nucleotide variantPathogenicrs137852807GRCh37Chr 2, 175619033: 175619033
80CHRNA1CHRNA1, 1-BP DEL, 381CdeletionPathogenic
81CHRNA1NM_001039523.2(CHRNA1): c.1389C> G (p.Cys463Trp)single nucleotide variantPathogenicrs137852808GRCh37Chr 2, 175612912: 175612912
82CHRNA1CHRNA1, IVS3AS, G-A, -8single nucleotide variantPathogenic
83CHRNA1CHRNA1, ARG313TRPundetermined variantPathogenic
84GFPT1NM_001244710.1(GFPT1): c.331C> T (p.Arg111Cys)single nucleotide variantPathogenicrs201322234GRCh37Chr 2, 69590695: 69590695
85GFPT1GFPT1, 1-BP INS, 222AinsertionPathogenic
86GFPT1GFPT1, TRP240TERsingle nucleotide variantPathogenic
87GFPT1GFPT1, ASP348TYRsingle nucleotide variantPathogenic
88GFPT1NM_001244710.1(GFPT1): c.43A> G (p.Thr15Ala)single nucleotide variantPathogenicrs387906638GRCh37Chr 2, 69601210: 69601210
89GFPT1GFPT1, 1-BP DEL, NT621deletionPathogenic
90SURF1NM_003172.3(SURF1): c.679T> C (p.Trp227Arg)single nucleotide variantPathogenicrs398122806GRCh37Chr 9, 136219373: 136219373
91MUSKNM_005592.3(MUSK): c.1031C> G (p.Pro344Arg)single nucleotide variantPathogenicrs387906803GRCh37Chr 9, 113530210: 113530210
92DPAGT1NM_001382.3(DPAGT1): c.349G> A (p.Val117Ile)single nucleotide variantPathogenicrs387907243GRCh37Chr 11, 118971487: 118971487
93DPAGT1NM_001382.3(DPAGT1): c.324G> C (p.Met108Ile)single nucleotide variantPathogenicrs376039938GRCh37Chr 11, 118971512: 118971512
94DPAGT1NM_001382.3(DPAGT1): c.699dupC (p.Thr234Hisfs)duplicationPathogenicrs397515321GRCh37Chr 11, 118969142: 118969142
95DPAGT1NM_001382.3(DPAGT1): c.358C> A (p.Leu120Met)single nucleotide variantPathogenicrs387907244GRCh37Chr 11, 118971478: 118971478
96DPAGT1NM_001382.3(DPAGT1): c.791T> G (p.Val264Gly)single nucleotide variantPathogenicrs387907245GRCh37Chr 11, 118968691: 118968691
97NM_000080.3(CHRNE): c.223T> C (p.Trp75Arg)single nucleotide variantPathogenicrs193919341GRCh37Chr 17, 4805756: 4805756
98COX15NM_004376.5(COX15): c.1030T> C (p.Ser344Pro)single nucleotide variantPathogenicrs397514662GRCh37Chr 10, 101476176: 101476176
99COX15COX15, SER151TERundetermined variantPathogenic
100TACO1NM_016360.3(TACO1): c.472dupC (p.His158Profs)duplicationPathogenicGRCh37Chr 17, 61683757: 61683758
101SCN4ANM_000334.4(SCN4A): c.4325T> A (p.Val1442Glu)single nucleotide variantPathogenicrs121908553GRCh37Chr 17, 62019317: 62019317
102MUSKMUSK, MET605ILEundetermined variantPathogenic
103MUSKNM_005592.3(MUSK): c.2180C> T (p.Ala727Val)single nucleotide variantPathogenicrs397515450GRCh37Chr 9, 113562838: 113562838
104COLQCOLQ, 215-BP DEL, NT107deletionPathogenic
105COLQNM_005677.3(COLQ): c.640G> T (p.Glu214Ter)single nucleotide variantPathogenicrs104893733GRCh37Chr 3, 15512120: 15512120
106COLQNM_005677.3(COLQ): c.506C> G (p.Ser169Ter)single nucleotide variantPathogenicrs104893734GRCh37Chr 3, 15516954: 15516954
107COLQNM_005677.3(COLQ): c.844A> T (p.Arg282Ter)single nucleotide variantPathogenicrs121908922GRCh37Chr 3, 15499803: 15499803
108COLQCOLQ, 1-BP DEL, 1082CdeletionPathogenic
109COLQCOLQ, 1-BP INS, 788CinsertionPathogenic
110COLQNM_005677.3(COLQ): c.1289A> C (p.Tyr430Ser)single nucleotide variantPathogenicrs121908923GRCh37Chr 3, 15495345: 15495345
111COLQNM_005677.3(COLQ): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs121908924GRCh37Chr 3, 15499704: 15499704
112COLQCOLQ, IVS16DS, A-G, +3single nucleotide variantPathogenic
113COLQNM_005677.3(COLQ): c.718G> T (p.Gly240Ter)single nucleotide variantPathogenicrs104893735GRCh37Chr 3, 15507944: 15507944
114COX10NM_001303.3(COX10): c.1007A> T (p.Asp336Val)single nucleotide variantPathogenicrs104894557GRCh37Chr 17, 14110205: 14110205
115COX10NM_001303.3(COX10): c.1007A> G (p.Asp336Gly)single nucleotide variantPathogenicrs104894557GRCh37Chr 17, 14110205: 14110205
116COX10NM_001303.3(COX10): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs387906383GRCh37Chr 17, 13972924: 13972924
117RAPSNNM_005055.4(RAPSN): c.264C> A (p.Asn88Lys)single nucleotide variantPathogenicrs104894299GRCh37Chr 11, 47469631: 47469631
118RAPSNNM_005055.4(RAPSN): c.41T> C (p.Leu14Pro)single nucleotide variantPathogenicrs104894300GRCh37Chr 11, 47470476: 47470476
119RAPSNRAPSN, 5-BP INSinsertionPathogenic
120RAPSNRAPSN, 1-BP INS, 46CinsertionPathogenic
121RAPSNNM_005055.4(RAPSN): c.807C> A (p.Tyr269Ter)single nucleotide variantPathogenicrs104894301GRCh37Chr 11, 47463268: 47463268
122RAPSNNM_005055.4(RAPSN): c.848T> C (p.Leu283Pro)single nucleotide variantPathogenicrs104894293GRCh37Chr 11, 47463227: 47463227
123RAPSNRAPSN, IVS1AS, C-A, -15single nucleotide variantPathogenic
124RAPSNNM_005055.4(RAPSN): c.490C> T (p.Arg164Cys)single nucleotide variantPathogenicrs104894294GRCh37Chr 11, 47469405: 47469405
125RAPSNNM_005055.4(RAPSN): c.133G> A (p.Val45Met)single nucleotide variantPathogenicrs121909254GRCh37Chr 11, 47470384: 47470384
126RAPSNNM_005055.4(RAPSN): c.484G> A (p.Glu162Lys)single nucleotide variantPathogenicrs121909255GRCh37Chr 11, 47469411: 47469411
127MUSKNM_005592.3(MUSK): c.2368G> A (p.Val790Met)single nucleotide variantPathogenicrs199476083GRCh37Chr 9, 113563026: 113563026
128MUSKMUSK, 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
1
Show member pathways
10.0CHAT, CHRNA1
2
Show member pathways
9.9CHRND, CHRNE, CHRNA1
3
Show member pathways
9.7MUSK, CHRNE, CHRNA1, CHRND
4
Show member pathways
9.7CHRND, CHRNA1, CHRNE, CHAT
59.6AGRN, RAPSN, CHRNA1, MUSK
69.6AGRN, LRP4, MUSK
7
Show member pathways
9.5CHRND, MUSK, CHRNA1, CHRNE, CHRNB1
8
Show member pathways
9.4CHRNB1, COX10, COX15, CHRNA1
9
Show member pathways
8.0ALG14, ALG2, COX10, CHAT, GFPT1, AGRN

Compounds for genes affiliated with Congenital Myasthenic Syndrome

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

idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin43 28 5912.0CHAT, CHRNA1, AGRN
2galantamine43 49 1211.9CHRND, CHRNA1, CHRNE, CHRNB1
3succinylcholine43 49 28 1212.9SCN4A, CHRNA1
4N-Acetyl-D-glucosaminyldiphosphodolichol249.9ALG14, DPAGT1
5Dolichol-20249.9ALG2, DPAGT1
6nicotine43 28 49 1212.8MUSK, CHAT, CHRNA1, AGRN
7Uridine diphosphate-N-acetylglucosamine249.8ALG14, DPAGT1
8potassium43 24 1211.6RAPSN, CHAT, MUSK, SCN4A
9acetylcholine43 49 28 24 1213.5MUSK, CHAT, CHRNA1, CHRND, RAPSN, AGRN
10sodium43 2410.3AGRN, RAPSN, CHAT, SCN4A

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
1synapseGO:00452029.8COLQ, CHRNB1, AGRN
2acetylcholine-gated channel complexGO:00058929.8CHRNB1, CHRNE, CHRNA1, CHRND
3basal laminaGO:00056059.7COLQ, AGRN
4mitochondrial respiratory chainGO:00057469.7SURF1, COX15
5postsynaptic membraneGO:00452119.3CHRNB1, CHRND, CHRNE, CHRNA1, RAPSN, MUSK
6neuromuscular junctionGO:00315949.2LRP4, MUSK, CHRNA1, DOK7, RAPSN
7cell junctionGO:00300548.8CHRNB1, MUSK, CHRNE, CHRNA1, CHRND, DOK7

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue growthGO:004863010.4CHRND, CHRNA1
2musculoskeletal movementGO:005088110.3CHRNA1, CHRND
3receptor clusteringGO:004311310.3AGRN, DOK7
4neuromuscular processGO:005090510.3CHRND, CHRNA1
5synaptic transmission, cholinergicGO:000727110.2RAPSN, CHRNE, CHRNB1
6neuromuscular synaptic transmissionGO:000727410.2CHRNB1, CHAT, CHRNA1
7positive regulation of neuron apoptotic processGO:004352510.1AGRN, RAPSN, MUSK
8heme a biosynthetic processGO:000678410.1COX10, COX15
9mitochondrial electron transport, cytochrome c to oxygenGO:000612310.1COX10, COX15
10cation transportGO:000681210.1CHRNB1, CHRNE, CHRNA1, CHRND
11regulation of membrane potentialGO:004239110.1CHRND, CHRNA1, CHRNE, CHRNB1
12muscle contractionGO:000693610.1SCN4A, CHRNB1, CHRNE, CHRND
13neuromuscular junction developmentGO:000752810.0AGRN, DOK7, CHRNA1, MUSK
14skeletal muscle acetylcholine-gated channel clusteringGO:007134010.0MUSK, LRP4
15cellular respirationGO:004533310.0COX10, COX15
16porphyrin-containing compound metabolic processGO:00067789.9COX15, COX10
17aerobic respirationGO:00090609.8SURF1, COX10
18heme biosynthetic processGO:00067839.8COX10, COX15
19respiratory chain complex IV assemblyGO:00085359.8SURF1, COX10, COX15
20synaptic transmissionGO:00072689.8CHAT, CHRNE, CHRNA1, CHRND, RAPSN
21hydrogen ion transmembrane transportGO:019026009.8COX15, COX10, SURF1
22synapse organizationGO:00508089.6AGRN, LRP4
23dolichol-linked oligosaccharide biosynthetic processGO:00064889.5GFPT1, DPAGT1, ALG2, ALG14
24protein N-linked glycosylation via asparagineGO:00182799.4GFPT1, DPAGT1, ALG2, ALG14
25post-translational protein modificationGO:00436879.3GFPT1, DPAGT1, ALG2, ALG14
26signal transductionGO:00071659.2CHRNB1, CHRNE, CHRNA1, CHRND, AGRN
27cellular protein metabolic processGO:00442679.1ALG14, ALG2, DPAGT1, GFPT1

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine bindingGO:00421669.8CHRNB1, CHRNA1, CHRND
2acetylcholine-activated cation-selective channel activityGO:00048899.7CHRND, CHRNA1, CHRNE, CHRNB1
3acetylcholine receptor activityGO:00154649.6CHRNA1, CHRNE, CHRNB1
4cytochrome-c oxidase activityGO:00041299.4COX15, COX10, SURF1

Products for genes affiliated with Congenital Myasthenic Syndrome

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  • Antibodies
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  • Kits and Assays

Sources for Congenital Myasthenic Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet