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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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
Pharmacologic Treatment of Downstream of Tyrosine Kinase 7 Congenital Myasthenic Syndrome. (24425145)
2014
2
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR. (23569079)
2013
3
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. (23219351)
2013
4
Pregnancy in congenital myasthenic syndrome. (23108489)
2013
5
Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis. (23371844)
2013
6
Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation. (23657916)
2013
7
DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy. (22884442)
2013
8
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. (22326364)
2012
9
Recurrent COLQ mutation in congenital myasthenic syndrome. (22490774)
2012
10
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. (22661499)
2012
11
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. (22088788)
2012
12
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. (21822932)
2012
13
Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia. (21372719)
2011
14
Motor endplate remodeling in some cases with congenital myasthenic syndrome. (20925004)
2010
15
What have we learned from the congenital myasthenic syndromes. (19688192)
2010
16
Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations. (20370815)
2010
17
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing. (20930056)
2010
18
Congenital myasthenic syndrome with episodic apnea. (19520274)
2009
19
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. (19251977)
2009
20
Electrophysiological study in synaptic congenital myasthenic syndrome: end-plate acetylcholinesterase deficiency. (19623452)
2009
21
Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency]. (19172815)
2009
22
Dok-7/MuSK signaling and a congenital myasthenic syndrome. (19108574)
2008
23
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions. (18718936)
2008
24
Congenital myasthenic syndromes and the formation of the neuromuscular junction. (18567858)
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
Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives. (17300939)
2007
28
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. (16621558)
2006
29
An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. (16087917)
2005
30
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. (15701560)
2005
31
MUSK, a new target for mutations causing congenital myasthenic syndrome. (15496425)
2004
32
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. (15482960)
2004
33
Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation]. (15034473)
2004
34
Congenital myasthenic syndromes. (15367858)
2004
35
Congenital myasthenic syndromes due to mutations in the rapsyn gene]. (15269664)
2004
36
Congenital myasthenic syndrome: presentation, electrodiagnosis, and muscle biopsy. (15119478)
2004
37
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. (12771277)
2003
38
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction. (14592871)
2003
39
Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes. (14592868)
2003
40
Congenital myasthenic syndrome in cattle due to homozygosity for a truncating mutation in the acetylcholine receptor (AChR) epsilon-subunit gene. (14592869)
2003
41
Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. (12117478)
2002
42
Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. (11030414)
2000
43
Congenital myasthenic syndrome: report of four cases and brief review of literature. (11025633)
2000
44
Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation. (10976646)
2000
45
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. (10211467)
1999
46
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
47
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. (8755487)
1996
48
Arthrogryposis multiplex congenita due to congenital myasthenic syndrome. (7619191)
1995
49
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. (7531341)
1995
50
Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations. (8429842)
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
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10.1CHAT, ACHE
2
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10.1ACHE, CHAT
310.1ACHE, CHAT
410.1ACHE, CHAT
5
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9.9LAMB2, MUSK, AGRN
69.8AGRN, CHRNA1, MUSK, RAPSN
7
Hide members
9.7CHRNG, CHRNA1, CHRND, CHRNE
89.6CHRNG, CHRNA1, CHRND, CHRNB1, CHRNE
9
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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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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
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39NCIt
40NDF-RT
43NINDS
44Novoseek
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