CMS
MCID: CNG001
MIFTS: 55

Congenital Myasthenic Syndrome (CMS) malady

Summaries for Congenital Myasthenic Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 myasthenic syndrome, fast-channel congenital. 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 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).

NINDS:44 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.

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.

Wikipedia:64 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

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 35MeSH
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Aliases & Descriptions:

congenital myasthenic syndrome 8 43 21 10
congenital myasthenia 19 43 21 44 61
congenital myasthenic syndromes 19 20 22 21
cms 43 21
lambert-eaton myasthenic syndrome 61
myasthenic syndromes, congenital 61
myasthenic syndromes congenital 45
myasthenia - congenital 44


External Ids:

Disease Ontology8 DOID:3635
NCIt40 C84647
MeSH35 D020294

Related Diseases for Congenital Myasthenic Syndrome

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

congenital myasthenic syndrome with episodic apnea congenital myasthenic syndrome with tubular aggregates 2

Diseases related to Congenital Myasthenic Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 162)
idRelated DiseaseScoreTop Affiliating Genes
1slow-channel congenital myasthenic syndrome31.2CHRNA1, CHRND, CHRNE, CHRNB1
2myasthenic syndrome, fast-channel congenital30.7CHRNA1, CHRND, CHRNE
3thymoma30.6MUSK
4endplate acetylcholinesterase deficiency30.5COLQ, ACHE
5congenital myasthenic syndrome associated with acetylcholine receptor deficiency30.5MUSK, RAPSN, CHRNE
6cerebellar degeneration10.9
7n syndrome10.8
8paraneoplastic cerebellar degeneration10.8
9paraneoplastic syndromes10.7
10cerebellar degeneration, subacute10.7
11systemic lupus erythematosus10.6
12arthritis10.6
13autonomic dysfunction10.6
14german syndrome10.5
15thymic hyperplasia10.5
16char syndrome10.4
17myasthenic syndrome, congenital, associated with episodic apnea10.4
18congenital myasthenic syndrome with tubular aggregates 210.4
19neurogenic bladder10.4
20psoriatic arthritis10.4
21intracranial aneurysm10.4
22lung occult small cell carcinoma10.4
23adult syndrome10.4
24conn's syndrome10.4
25addison's disease10.4
26autonomic neuropathy10.4
27bladder carcinoma10.4
28bladder transitional cell carcinoma10.4
29botulism10.4
30strabismus10.4
31wilms tumor10.4
32short syndrome10.4
33c-like syndrome10.4
34carcinoid syndrome10.4
35diffuse panbronchiolitis10.4
36limbic encephalitis10.4
37paraneoplastic neurologic disorders10.4
38back pain10.4
39myoclonus10.4
40undifferentiated connective tissue syndrome10.4
41discoid lupus erythematosus10.4
42congenital myasthenic syndrome with episodic apnea10.3
43musk-related congenital myasthenic syndrome10.3
44chrna1-related congenital myasthenic syndrome10.3
45chiari malformations10.3
46adenocarcinoma10.2
47micro syndrome10.2
48myasthenia gravis congenital10.2
49chat-related congenital myasthenic syndrome10.2
50chrne-related congenital myasthenic syndrome10.2

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



Diseases related to congenital myasthenic syndrome

Clinical Features for Congenital Myasthenic Syndrome

Drugs & Therapeutics for Congenital Myasthenic Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Myasthenic Syndrome

Drug clinical trials:

Search ClinicalTrials for Congenital Myasthenic Syndrome

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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33MalaCards
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MalaCards organs/tissues related to Congenital Myasthenic Syndrome:

33
Skeletal muscle

Animal Models for Congenital Myasthenic Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome:

37
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

Sources:
51PubMed
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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
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. (23688972)
2013
3
Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the I+-I/ subunit interface. (24295813)
2013
4
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1. (23591138)
2013
5
Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol. (23281026)
2013
6
Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants: Clinical Suspicion and Comprehensive Electrophysiological Assessment Are Important for Early Diagnosis. (23292760)
2013
7
Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis. (23371844)
2013
8
Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation. (23657916)
2013
9
DOK7 congenital myasthenic syndrome. (23278577)
2012
10
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. (22742743)
2012
11
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. (22088788)
2012
12
Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery. (23045675)
2012
13
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. (21316238)
2011
14
Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia. (21372719)
2011
15
A valid mouse model of AGRIN-associated congenital myasthenic syndrome. (21890498)
2011
16
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes. (20147321)
2010
17
Congenital myasthenic syndrome with episodic apnea. (19520274)
2009
18
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. (19251977)
2009
19
Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency]. (19172815)
2009
20
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome. (19147685)
2009
21
Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome. (19289485)
2009
22
Dok-7/MuSK signaling and a congenital myasthenic syndrome. (19108574)
2008
23
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. (18180250)
2008
24
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions. (18718936)
2008
25
Congenital myasthenic syndromes in childhood: diagnostic and management challenges. (18707767)
2008
26
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. (17439981)
2007
27
An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). (15965226)
2005
28
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. (15079006)
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
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene. (15248101)
2004
31
Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation]. (15034473)
2004
32
Congenital myasthenic syndromes. (15367858)
2004
33
Congenital myasthenic syndromes: progress over the past decade. (12508290)
2003
34
Congenital myasthenic syndrome in cattle due to homozygosity for a truncating mutation in the acetylcholine receptor (AChR) epsilon-subunit gene. (14592869)
2003
35
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. (12141316)
2002
36
Presynaptic congenital myasthenic syndrome due to quantal release deficiency. (11468313)
2001
37
Congenital myasthenic syndrome: report of four cases and brief review of literature. (11025633)
2000
38
Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation. (10976646)
2000
39
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. (10211467)
1999
40
Congenital myasthenic syndromes: recent advances. (10025421)
1999
41
A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency. (9668239)
1998
42
Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene. (9668237)
1998
43
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
44
Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. (9097970)
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
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. (7531341)
1995
48
Congenital myasthenic syndrome attributed to an abnormal interaction of acetylcholine with its receptor. (8357189)
1993
49
Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations. (8429842)
1993
50
Congenital Lambert-Eaton myasthenic syndrome. (3035103)
1987

Genetic Variations for Congenital Myasthenic Syndrome

Expression for genes affiliated with Congenital Myasthenic Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Myasthenic Syndrome

Search GEO for disease gene expression data for Congenital Myasthenic Syndrome.

Pathways for genes affiliated with Congenital Myasthenic Syndrome

Sources:
54Reactome, 38NCBI BioSystems Database, 50PharmGKB, 30KEGG, 52QIAGEN, 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
Hide members
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

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 24HMDB, 50PharmGKB
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Compounds related to Congenital Myasthenic Syndrome according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1af 64a4510.4ACHE, CHAT
2edrophonium45 1111.4ACHE, MUSK
3huperzine a4510.3CHAT, ACHE
4gallamine45 2911.3CHRNA1, ACHE
5muscarine45 2911.3ACHE, CHAT
6alpha-bungarotoxin45 6011.3AGRN, CHRNA1, CHAT
7physostigmine45 1111.3ACHE, CHAT
8chlorpyrifos4510.2CHAT, ACHE
9succinylcholine45 29 1112.2SCN4A, CHRNA1, ACHE
10carbamate4510.2ACHE, CHAT
11donepezil45 11 2412.2ACHE, CHAT
12pyridostigmine45 1111.1ACHE, CHAT
13scopolamine45 29 11 2413.0CHAT, ACHE
14choline45 11 2411.9ACHE, RAPSN, CHAT
15nicotine45 50 29 1112.9ACHE, MUSK, CHAT, CHRNA1, AGRN
16potassium45 11 2411.8SCN4A, CHAT, BLZF1, MUSK, RAPSN
17pirenzepine45 29 1111.8ACHE, CHAT
18sodium45 2410.8SCN4A, AGRN, CHAT, BLZF1, RAPSN
19galantamine45 50 1111.7ACHE, CHRNG, CHRNA1, CHRND, CHRNB1, CHRNE
20acetylcholine45 50 29 11 2413.0AGRN, CHRNA1, CHRND, CHAT, BLZF1, MUSK

GO Terms for genes affiliated with Congenital Myasthenic Syndrome

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet