CMS
MCID: CNG001
MIFTS: 50

Congenital Myasthenic Syndrome (CMS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases categories

Summaries for Congenital Myasthenic Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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: Congenital Myasthenic Syndrome, also known as congenital myasthenia, is related to slow-channel congenital myasthenic syndrome and congenital myasthenic syndrome associated with acetylcholine receptor deficiency. An important gene associated with Congenital Myasthenic Syndrome is SCN4A (sodium channel, voltage-gated, type IV, alpha subunit), and among its related pathways are Transmission across Chemical Synapses and Activation of Nicotinic Acetylcholine Receptors. The compound galantamine have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and respiratory system.

Disease Ontology:9 A neuromuscular junction disease that is characterized by weakness and easy fatigability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).

NINDS:45 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:66 Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several... more...

GeneReviews summary for cms

Aliases & Classifications for Congenital Myasthenic Syndrome

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63UMLS, 9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 20GeneReviews, 21GeneTests, 23GTR, 45NINDS, 46Novoseek, 41NCIt, 36MeSH
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Classifications:



Aliases & Descriptions:

congenital myasthenic syndrome 9 44 22 11
congenital myasthenia 20 44 22 45 63
congenital myasthenic syndromes 20 21 23 22
cms 44 22
lambert-eaton myasthenic syndrome 63
myasthenic syndromes, congenital 63
myasthenic syndromes congenital 46
myasthenia - congenital 45


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Disease Ontology9 DOID:3635
NCIt41 C84647
MeSH36 D020294

Related Diseases for Congenital Myasthenic Syndrome

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18GeneCards, 19GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 158)
idRelated DiseaseScoreTop Affiliating Genes
1slow-channel congenital myasthenic syndrome31.2CHRND, CHRNB1, CHRNE
2congenital myasthenic syndrome associated with acetylcholine receptor deficiency30.5MUSK, CHRNE
3myasthenic syndrome, fast-channel congenital30.4CHRNE, CHRND
4myopathy29.9CHRNB1, CHRNE, CHRND, DOK7, SCN4A
5congenital myasthenic syndrome with episodic apnea10.6
6hepatocellular carcinoma10.5
7congenital myasthenic syndrome with tubular aggregates 210.4
8renal cell carcinoma10.4
9musk-related congenital myasthenic syndrome10.3
10chrna1-related congenital myasthenic syndrome10.3
11myasthenic syndrome, congenital, with pre- and postsynaptic defects10.3
12endplate acetylcholinesterase deficiency10.3
13chiari malformation10.3
14myasthenia gravis10.3
15chat-related congenital myasthenic syndrome10.3
16chrne-related congenital myasthenic syndrome10.3
17rapsn-related congenital myasthenic syndrome10.3
18colq-related congenital myasthenic syndrome10.3
19scn4a-related congenital myasthenic syndrome10.3
20chrnb1-related congenital myasthenic syndrome10.3
21chrnd-related congenital myasthenic syndrome10.3
22dok7-related congenital myasthenic syndrome10.3
23agrn-related congenital myasthenic syndrome10.3
24gfpt1-related congenital myasthenic syndrome10.3
25myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency10.3
26adenocarcinoma10.2
27cerebritis10.2
28insulinoma10.2
29thyroiditis10.2
30chiari malformation type 210.2
31cerebral malaria10.2
32peritonitis10.2
33renal cell carcinoma 410.2
34emery-dreifuss muscular dystrophy10.1
35lambert-eaton myasthenic syndrome10.1
36epidermolysis bullosa10.1
37muscular dystrophy10.1
38respiratory failure10.1
39myasthenia, congenital, with tubular aggregates 110.1
40papillary carcinoma10.1
41coloboma10.1
42angiomyolipoma10.1
43hepatitis10.1
44liver cirrhosis10.1
45lung adenocarcinoma10.1
46lung cancer10.1
47malaria10.1
48optic atrophy10.1
49papillary thyroid carcinoma10.1
50capillary malformation-arteriovenous malformation syndrome10.1

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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Congenital Myasthenic Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Congenital Myasthenic Syndromes21 SCN4A
2 Congenital Myasthenic Syndromes Multi-Gene Panels21
3 Congenital Myasthenic Syndrome23

Anatomical Context for Congenital Myasthenic Syndrome

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Animal Models for Congenital Myasthenic Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7SCN4A, MUSK, CHRNE
2MP:00053888.3MUSK, CHRNE, DOK7
3MP:00053868.2CHRNE, SCN4A, MUSK, DOK7
4MP:00036317.9CHRNB1, CHRNE, DOK7, MUSK

Publications for Congenital Myasthenic Syndrome

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53PubMed
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Articles related to Congenital Myasthenic Syndrome:

(show top 50)    (show all 153)
idTitleAuthorsYear
1
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. (23790237)
2013
2
Congenital myasthenic syndromes and transient myasthenia gravis. (23909021)
2013
3
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. (23688972)
2013
4
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. (23404334)
2013
5
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK. (24122059)
2013
6
A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance. (22382357)
2012
7
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. (22326364)
2012
8
DOK7 congenital myasthenic syndrome. (23278577)
2012
9
Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia. (21150643)
2011
10
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. (21316238)
2011
11
Motor endplate remodeling in some cases with congenital myasthenic syndrome. (20925004)
2010
12
Congenital myasthenic syndrome with episodic apnea. (19520274)
2009
13
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. (19251977)
2009
14
Electrophysiological study in synaptic congenital myasthenic syndrome: end-plate acetylcholinesterase deficiency. (19623452)
2009
15
Temporary diazepam responsive apneic attacks and congenital myasthenic syndrome. (19289695)
2009
16
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
17
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. (17355552)
2007
18
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. (17439981)
2007
19
Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. (17586598)
2007
20
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. (16621558)
2006
21
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. (16916845)
2006
22
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK. (16550915)
2005
23
An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). (15965226)
2005
24
MUSK, a new target for mutations causing congenital myasthenic syndrome. (15496425)
2004
25
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. (15328566)
2004
26
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. (15286164)
2004
27
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. (15079006)
2004
28
Congenital myasthenic syndromes: progress over the past decade. (12508290)
2003
29
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. (12771277)
2003
30
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. (12756141)
2003
31
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction. (14592871)
2003
32
Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes. (14592868)
2003
33
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. (12609506)
2003
34
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. (12141316)
2002
35
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
36
A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome. (11960891)
2002
37
Congenital myasthenic syndrome due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene. (12453093)
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
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. (9158151)
1997
46
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. (8755487)
1996
47
Multiple system organ failure, intermediate syndrome, congenital myasthenic syndrome, and anticholinesterase treatment: the linkage is puzzling. (8618263)
1996
48
Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel. (7685992)
1993
49
Congenital myasthenic syndrome attributed to an abnormal interaction of acetylcholine with its receptor. (8357189)
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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Expression for genes affiliated with Congenital Myasthenic Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Myasthenic Syndrome

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Pathways for genes affiliated with Congenital Myasthenic Syndrome

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51PathCards, 56Reactome, 13EMD Millipore, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN
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Pathways related to Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5CHRNE, CHRND
2
Show member pathways
9.5CHRNE, CHRND
38.9CHRND, CHRNE, CHRNB1
4
Show member pathways
8.9CHRNE, CHRNB1, CHRND
5
Show member pathways
8.7CHRND, MUSK, CHRNE
6
Show member pathways
8.1MUSK, CHRNB1, CHRNE, CHRND

Compounds for genes affiliated with Congenital Myasthenic Syndrome

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46Novoseek, 52PharmGKB, 12DrugBank
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Compounds related to Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1galantamine46 52 1210.9CHRND, CHRNE, CHRNB1

GO Terms for genes affiliated with Congenital Myasthenic Syndrome

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17Gene Ontology
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Cellular components related to Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:0315949.1DOK7, MUSK
2acetylcholine-gated channel complexGO:0058928.9CHRND, CHRNB1, CHRNE
3postsynaptic membraneGO:0452118.0CHRND, CHRNE, CHRNB1, MUSK
4integral component of plasma membraneGO:0058877.8SCN4A, MUSK, CHRNB1, CHRNE
5cell junctionGO:0300547.6CHRNE, MUSK, CHRND, DOK7, CHRNB1

Biological processes related to Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transportGO:0068109.5CHRNE, CHRND
2synaptic transmission, cholinergicGO:0072719.3CHRNE, CHRNB1
3neuromuscular junction developmentGO:0075289.0MUSK, DOK7
4cation transportGO:0068129.0CHRND, CHRNE, CHRNB1
5regulation of membrane potentialGO:0423918.9CHRND, CHRNB1, CHRNE
6muscle contractionGO:0069368.6CHRNB1, CHRND, CHRNE, SCN4A
7signal transductionGO:0071658.6CHRNB1, CHRNE, CHRND

Molecular functions related to Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:0154649.3CHRNE, CHRNB1
2acetylcholine bindingGO:0421669.1CHRND, CHRNB1
3acetylcholine-activated cation-selective channel activityGO:0048898.8CHRND, CHRNE, CHRNB1

Products for genes affiliated with Congenital Myasthenic Syndrome

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Sources for Congenital Myasthenic Syndrome

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4CDC
14ExPASy
15FMA
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24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
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41NCIt
42NDF-RT
45NINDS
46Novoseek
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49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
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