CMS
MCID: CNG001
MIFTS: 56

Congenital Myasthenic Syndrome (CMS) malady

Summaries for Congenital Myasthenic Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 neuropathy. An important gene associated with Congenital Myasthenic Syndrome is SCN4A (sodium channel, voltage-gated, type IV, alpha subunit), and among its related pathways are Regulation of thyroid hormone activity and Synthesis of PE. The compounds af 64a and edrophonium have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle, and related mouse phenotypes are muscle and respiratory system.

Disease Ontology:8 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).

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:43 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

Aliases & Classifications for Congenital Myasthenic Syndrome

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60UMLS, 8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 19GeneReviews, 20GeneTests, 22GTR, 43NINDS, 44Novoseek, 39NCIt, 34MeSH
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Aliases & Descriptions:

congenital myasthenic syndrome 8 42 21 10
congenital myasthenia 19 42 21 43 60
congenital myasthenic syndromes 19 20 22 21
cms 42 21
lambert-eaton myasthenic syndrome 60
myasthenic syndromes, congenital 60
myasthenic syndromes congenital 44
myasthenia - congenital 43


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Disease Ontology8 DOID:3635
NCIt39 C84647
MeSH34 D020294

Related Diseases for Congenital Myasthenic Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Rapsn-Related Congenital Myasthenic Syndrome family:

congenital myasthenic syndrome Chat-Related Congenital Myasthenic Syndrome
Chrne-Related Congenital Myasthenic Syndrome Musk-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 192)
idRelated DiseaseScoreTop Affiliating Genes
1slow-channel congenital myasthenic syndrome30.9CHRNA1, CHRND, CHRNE, CHRNB1
2neuropathy30.7CHRND, CHRNE, RAPSN, LAMB2, CHRNB1, DOK7
3thymoma30.5MUSK
4endplate acetylcholinesterase deficiency30.4COLQ, ACHE
5congenital myasthenic syndrome associated with acetylcholine receptor deficiency30.4MUSK, RAPSN, CHRNE
6myasthenic syndrome, fast-channel congenital30.3CHRNA1, CHRND, CHRNE
7myasthenia gravis30.3ACHE, AGRN, CHRNA1, MUSK, RAPSN
8respiratory failure30.1MUSK
9muscular dystrophy30.1MUSK, LAMB2, AGRN
10myopathy30.0CHRNB1, CHRNE, BLZF1, RAPSN, LAMB2, SCN4A
11lambert-eaton myasthenic syndrome11.6
12lung cancer11.1
13small cell carcinoma11.0
14lung small cell carcinoma10.9
15neuronitis10.7
16lupus erythematosus10.7
17systemic lupus erythematosus10.6
18adenocarcinoma10.6
19arthritis10.6
20cerebellar ataxia10.5
21dermatomyositis10.5
22leukemia10.5
23lung adenocarcinoma10.5
24neuroblastoma10.5
25rheumatoid arthritis10.5
26transitional cell carcinoma10.5
27hepatocellular carcinoma10.4
28myasthenic syndrome, congenital, associated with episodic apnea10.4
29neurogenic bladder10.4
30psoriatic arthritis10.4
31intracranial aneurysm10.4
32lung occult small cell carcinoma10.4
33adult syndrome10.4
34down syndrome10.4
35insulinoma10.4
36addison's disease10.4
37autonomic neuropathy10.4
38bladder carcinoma10.4
39bladder transitional cell carcinoma10.4
40botulism10.4
41cell type cancer10.4
42connective tissue disease10.4
43encephalitis10.4
44glomerulonephritis10.4
45hairy cell leukemia10.4
46hereditary sensory neuropathy10.4
47hypothyroidism10.4
48leiomyoma10.4
49mediastinitis10.4
50neuromuscular disease10.4

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



Diseases related to congenital myasthenic syndrome

Clinical Features for Congenital Myasthenic Syndrome

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Drugs & Therapeutics for Congenital Myasthenic Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Congenital Myasthenic Syndrome

Search CenterWatch for Congenital Myasthenic Syndrome

Genetic Tests for Congenital Myasthenic Syndrome

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20GeneTests, 22GTR
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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:

32
Eye, Skeletal muscle

Animal Models for Congenital Myasthenic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9SCN4A, AGRN, CHRNG, CHAT, CHRNE, MUSK
2MP:00053888.9DOK7, AGRN, CHRNG, CHRNE, MUSK, RAPSN
3MP:00053788.8SCN4A, AGRN, CHRNG, CHAT, CHRNE, MUSK
4MP:00053868.4COLQ, SCN4A, DOK7, AGRN, CHRNG, CHRNA1
5MP:00036318.3CHRNA1, CHRNG, AGRN, DOK7, COLQ, CHAT
6MP:00107687.9ALG13, COLQ, SCN4A, DOK7, AGRN, CHRNG

Publications for Congenital Myasthenic Syndrome

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50PubMed
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Articles related to Congenital Myasthenic Syndrome:

(show top 50)    (show all 157)
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
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK. (24122059)
2013
5
Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the I+-I/ subunit interface. (24295813)
2013
6
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1. (23591138)
2013
7
Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. (23281026)
2013
8
A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance. (22382357)
2012
9
DOK7 congenital myasthenic syndrome. (23278577)
2012
10
Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome. (23278575)
2012
11
LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. (22205389)
2012
12
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. (22742743)
2012
13
Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery. (23045675)
2012
14
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. (21975507)
2011
15
A valid mouse model of AGRIN-associated congenital myasthenic syndrome. (21890498)
2011
16
Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations. (21721016)
2011
17
Congenital myasthenic syndrome: a case report. (21614992)
2011
18
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes. (20147321)
2010
19
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK- Dok-7 interaction. (20371544)
2010
20
Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. (20554332)
2010
21
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
22
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. (18180250)
2008
23
Further observations in congenital myasthenic syndromes. (18567859)
2008
24
A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome. (17363247)
2007
25
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. (16931511)
2006
26
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK. (16550915)
2005
27
An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). (15965226)
2005
28
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. (15286164)
2004
29
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
30
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. (15036330)
2004
31
Congenital myasthenic syndromes: progress over the past decade. (12508290)
2003
32
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. (12609506)
2003
33
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. (12796535)
2003
34
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. (12141316)
2002
35
Congenital myasthenic syndromes: genetic defects of the neuromuscular junction. (11898587)
2002
36
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. (12499478)
2002
37
Presynaptic congenital myasthenic syndrome due to quantal release deficiency. (11468313)
2001
38
Congenital myasthenic syndrome: a rare, potentially treatable cause of respiratory failure in a "floppy" infant. (10701044)
2000
39
Congenital myasthenic syndrome with sleep hypoventilation. (10883011)
2000
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
Congenital myasthenic syndromes: recent advances. (10025421)
1999
42
Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency. (9443457)
1998
43
Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene. (9668237)
1998
44
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. (9158151)
1997
45
Multiple system organ failure, intermediate syndrome, congenital myasthenic syndrome, and anticholinesterase treatment: the linkage is puzzling. (8618263)
1996
46
Ephedrine in the treatment of congenital myasthenic syndrome. (8609943)
1996
47
An autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a Libyan family. (8664562)
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
Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor. (8232384)
1993

Genetic Variations for Congenital Myasthenic Syndrome

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Expression for genes affiliated with Congenital Myasthenic Syndrome

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1BioGPS, 15Gene 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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53Reactome, 37NCBI BioSystems Database, 49PharmGKB, 29KEGG, 51QIAGEN, 12EMD Millipore
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Pathways related to Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1CHAT, ACHE
2
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10.1ACHE, CHAT
310.1ACHE, CHAT
410.1ACHE, CHAT
5
Hide members
9.9LAMB2, MUSK, AGRN
69.8AGRN, CHRNA1, MUSK, RAPSN
7
Hide members
9.7CHRNG, CHRNA1, CHRND, CHRNE
89.6CHRNG, CHRNA1, CHRND, CHRNB1, CHRNE
9
Hide members
9.6CHRNG, CHRNA1, CHRND, CHRNB1, CHRNE
10
Hide members
9.6CHRNG, CHRNA1, CHRND, CHRNE, MUSK
11
Hide members
9.4CHRNG, CHRNA1, CHRND, CHRNB1, CHRNE, MUSK
12
Hide members
9.4CHRNG, CHRNA1, CHRND, CHAT, CHRNE, ACHE
13
Hide members
9.3ALG13, ALG14, ALG2, GFPT1, DPAGT1
14
Hide members
9.3ALG13, ALG14, ALG2, ACHE, GFPT1
15
Hide members
9.1DPAGT1, GFPT1, ACHE, ALG2, ALG14, ALG13

Compounds for genes affiliated with Congenital Myasthenic Syndrome

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44Novoseek, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 24HMDB, 49PharmGKB
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Compounds related to Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1af 64a4410.4ACHE, CHAT
2edrophonium44 1111.4ACHE, MUSK
3huperzine a4410.3CHAT, ACHE
4gallamine44 2811.3CHRNA1, ACHE
5muscarine44 2811.3ACHE, CHAT
6alpha-bungarotoxin44 5911.3AGRN, CHRNA1, CHAT
7physostigmine44 1111.3ACHE, CHAT
8chlorpyrifos4410.2CHAT, ACHE
9succinylcholine44 28 1112.2SCN4A, CHRNA1, ACHE
10carbamate4410.2ACHE, CHAT
11donepezil44 11 2412.2ACHE, CHAT
12pyridostigmine44 1111.1ACHE, CHAT
13scopolamine44 28 11 2413.0CHAT, ACHE
14choline44 11 2411.9ACHE, RAPSN, CHAT
15nicotine44 49 28 1112.9ACHE, MUSK, CHAT, CHRNA1, AGRN
16potassium44 11 2411.8SCN4A, CHAT, BLZF1, MUSK, RAPSN
17pirenzepine44 28 1111.8ACHE, CHAT
18sodium44 2410.8SCN4A, AGRN, CHAT, BLZF1, RAPSN
19galantamine44 49 1111.7ACHE, CHRNG, CHRNA1, CHRND, CHRNB1, CHRNE
20acetylcholine44 49 28 11 2413.0AGRN, CHRNA1, CHRND, CHAT, BLZF1, MUSK

GO Terms for genes affiliated with Congenital Myasthenic Syndrome

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16Gene Ontology
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Cellular components related to Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-gated channel complexGO:0058929.6CHRNG, CHRNA1, CHRND, CHRNB1, CHRNE
2synapseGO:0452029.5LAMB2, ACHE, CHRNB1, AGRN, COLQ
3neuromuscular junctionGO:0315949.5ACHE, RAPSN, MUSK, CHRNA1, DOK7
4basal laminaGO:0056059.3COLQ, AGRN, ACHE, LAMB2
5postsynaptic membraneGO:0452119.1CHRNG, CHRNA1, CHRND, CHRNB1, CHRNE, MUSK
6cell junctionGO:0300548.6ACHE, COLQ, DOK7, AGRN, CHRNG, CHRNA1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue growthGO:04863010.4CHRND, CHRNA1
2musculoskeletal movementGO:05088110.4CHRNA1, CHRND
3acetylcholine catabolic process in synaptic cleftGO:00150710.3COLQ, ACHE
4receptor clusteringGO:04311310.2AGRN, DOK7
5neuromuscular synaptic transmissionGO:00727410.2CHRNB1, CHAT, CHRNA1
6synaptic transmission, cholinergicGO:00727110.1CHRNB1, CHRNE, RAPSN, ACHE
7neurotransmitter biosynthetic processGO:04213610.1ACHE, CHAT
8phosphatidylcholine biosynthetic processGO:00665610.1ACHE, CHAT
9neuromuscular processGO:05090510.1CHRNA1, CHRND
10neuromuscular junction developmentGO:00752810.0LAMB2, MUSK, CHRNA1, DOK7
11muscle contractionGO:00693610.0SCN4A, CHRNG, CHRND, CHRNB1, CHRNE
12regulation of membrane potentialGO:0423919.9CHRNE, CHRNB1, CHRND, CHRNA1, CHRNG
13cation transportGO:0068129.9CHRNE, CHRNB1
14transportGO:0068109.8CHRNG, CHRNA1, CHRND, CHRNE
15dolichol-linked oligosaccharide biosynthetic processGO:0064889.6ALG13, ALG14, ALG2, GFPT1, DPAGT1
16protein N-linked glycosylation via asparagineGO:0182799.6DPAGT1, GFPT1, ALG2, ALG14, ALG13
17post-translational protein modificationGO:0436879.6DPAGT1, GFPT1, ALG2, ALG14, ALG13
18signal transductionGO:0071659.6AGRN, CHRNG, CHRNA1, CHRND, CHRNB1, CHRNE
19synaptic transmissionGO:0072689.5CHRNG, CHRNA1, CHRND, CHAT, CHRNE, RAPSN
20cellular protein metabolic processGO:0442679.5ALG13, ALG14, ALG2, GFPT1, DPAGT1

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

idNameGO IDScoreTop Affiliating Genes
1laminin bindingGO:04323610.1ACHE, AGRN
2channel activityGO:0152679.8CHRNB1, CHRNG
3acetylcholine bindingGO:0421669.8CHRNA1, CHRND, CHRNB1, ACHE
4acetylcholine-activated cation-selective channel activityGO:0048899.7CHRNE, CHRNB1, CHRND, CHRNA1, CHRNG
5acetylcholine receptor activityGO:0154649.6CHRNG, CHRNA1, CHRNB1, CHRNE

Products for genes affiliated with Congenital Myasthenic Syndrome

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Sources for Congenital Myasthenic Syndrome

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3CDC
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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39NCIt
40NDF-RT
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