Congenital Myasthenic Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Congenital Myasthenic Syndrome

MalaCards integrated aliases for Congenital Myasthenic Syndrome:

Name: Congenital Myasthenic Syndrome 12 50 25 56 29 14
Congenital Myasthenia 23 50 24 25 51
Congenital Myasthenic Syndromes 23 24 25
Cms 50 25 56
Myasthenic Syndromes, Congenital 42 69
Congenital Myasthenic Syndrome Ib 69
Familial Limb-Girdle Myasthenia 12
Myasthenic Syndromes Congenital 52
Myasthenia - Congenital 51


Orphanet epidemiological data:

congenital myasthenic syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom); Age of onset: Infancy,Neonatal; Age of death: any age;


Penetrance In general, reported cms pathogenic variants have complete penetrance...


External Ids:

Disease Ontology 12 DOID:3635
MeSH 42 D020294
NCIt 47 C84647
SNOMED-CT 64 230672006
Orphanet 56 ORPHA590
MESH via Orphanet 43 D020294
UMLS via Orphanet 70 C0751882
ICD10 via Orphanet 34 G70.2
UMLS 69 C0751882

Summaries for Congenital Myasthenic Syndrome

NINDS : 51 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. The most common type of myasthenia, myasthenia gravis, is caused by an abnormal immune response in which antibodies block the ability of the muscle to detect the neurotransmitter. Congenital myasthenia, however, differs from myasthenia gravis because the disrupted communication isn't caused by antibodies, but by genetic defects. There are several different subtypes of congenital myasthenia, each the result of a specific genetic mutation. Since all types of myasthenia are due to the inability of nerves to trigger muscle activity, they all involve weakness, although there is some variability in the specific muscles affected. Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, occasionally remaining unrecognized until adulthood. If the symptoms begin in infancy, they usually appear as "floppiness" and a failure to meet developmental milestones, such as rolling over or sitting up. Some infants may also have episodes of choking or pauses in breathing. If the symptoms begin in toddlers or preschool children, they appear as weakness during physical activities or an inability to perform age-appropriate actions, such as running or climbing. In addition, if eye muscles are involved, children may have droopy eyelids, "lazy eye," or double vision. If mouth or throat muscles are involved, children may have difficulty speaking or swallowing. An important characteristic of myasthenia is that the weakness worsens during continuous activity, with strength returning, at least partially, after resting. Congenital myasthenia is an inherited (genetic) disorder. All but one known subtype are recessive disorders, which means that a child will have to have two copies of the abnormal gene (one from each parent) in order to develop the disease. To diagnose congenital myasthenia, a neurologist will test various muscles to determine if they grow weaker with repeated activity. The doctor will also test the electrical activity of nerves and muscles using electromyography (EMG) and nerve conduction tests (NCS). Blood tests are often used to determine if antibodies could be causing the symptoms. Genetic tests may be ordered.

MalaCards based summary : Congenital Myasthenic Syndrome, also known as congenital myasthenia, is related to myasthenic syndrome, congenital, 1b, fast-channel and myasthenic syndrome, congenital, 17, and has symptoms including facial paresis An important gene associated with Congenital Myasthenic Syndrome is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4), and among its related pathways/superpathways are Transmission across Chemical Synapses and Agrin Interactions at Neuromuscular Junction. The drugs 4-Aminopyridine and 3,4-diaminopyridine have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and skeletal muscle, and related phenotypes are behavior/neurological and mortality/aging

Disease Ontology : 12 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 : 25 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.

NIH Rare Diseases : 50 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

Wikipedia : 72 Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several... more...

GeneReviews: NBK1168

Related Diseases for Congenital Myasthenic Syndrome

Diseases in the Congenital Myasthenic Syndrome family:

Myasthenic Syndrome, Congenital, 22 Myasthenic Syndrome, Congenital, 5
Myasthenic Syndrome, Congenital, 10 Myasthenic Syndrome, Congenital, 19
Myasthenic Syndrome, Congenital, 17 Myasthenic Syndrome, Congenital, 16
Myasthenic Syndrome, Congenital, 18 Agrn-Related Congenital Myasthenic Syndrome
Chat-Related Congenital Myasthenic Syndrome Chrna1-Related Congenital Myasthenic Syndrome
Chrnb1-Related Congenital Myasthenic Syndrome Chrnd-Related Congenital Myasthenic Syndrome
Chrne-Related Congenital Myasthenic Syndrome Col13a1-Related Congenital Myasthenic Syndrome
Colq-Related Congenital Myasthenic Syndrome Dok7-Related Congenital Myasthenic Syndrome
Gfpt1-Related Congenital Myasthenic Syndrome Musk-Related Congenital Myasthenic Syndrome
Rapsn-Related Congenital Myasthenic Syndrome Scn4a-Related Congenital Myasthenic Syndrome
Snap25-Related Congenital Myasthenic Syndrome Syt2-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 90)
id Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 1b, fast-channel 33.7 CHRNA1 CHRNB1
2 myasthenic syndrome, congenital, 17 33.0 AGRN DOK7 DPAGT1 LRP4 MUSK RAPSN
3 slow-channel congenital myasthenic syndrome 12.2
4 congenital myasthenic syndrome with episodic apnea 12.2
5 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 12.0
6 chrna1-related congenital myasthenic syndrome 11.9
7 presynaptic congenital myasthenic syndromes 11.9
8 colq-related congenital myasthenic syndrome 11.9
9 musk-related congenital myasthenic syndrome 11.9
10 agrn-related congenital myasthenic syndrome 11.8
11 postsynaptic congenital myasthenic syndromes 11.8
12 myasthenic syndrome, congenital, 5 11.8
13 myasthenic syndrome, congenital, 1a, slow-channel 11.8
14 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 11.8
15 alg14-related congenital myasthenic syndrome without tubular aggregates 11.8
16 chat-related congenital myasthenic syndrome 11.8
17 chrnb1-related congenital myasthenic syndrome 11.8
18 chrnd-related congenital myasthenic syndrome 11.8
19 chrne-related congenital myasthenic syndrome 11.8
20 col13a1-related congenital myasthenic syndrome 11.8
21 dok7-related congenital myasthenic syndrome 11.8
22 gfpt1-related congenital myasthenic syndrome 11.8
23 rapsn-related congenital myasthenic syndrome 11.8
24 scn4a-related congenital myasthenic syndrome 11.8
25 snap25-related congenital myasthenic syndrome 11.8
26 syt2-related congenital myasthenic syndrome 11.8
27 congenital myasthenic syndromes with glycosylation defect 11.8
28 myasthenic syndrome, congenital, 6, presynaptic 11.7
29 myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects 11.7
30 myasthenic syndrome, congenital, 10 11.7
31 myasthenic syndrome, congenital, 16 11.7
32 myasthenic syndrome, congenital, 13, with tubular aggregates 11.7
33 myasthenic syndrome, congenital, 7, presynaptic 11.6
34 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 11.6
35 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 11.6
36 myasthenic syndrome, congenital, 4a, slow-channel 11.6
37 capillary malformation-arteriovenous malformation 11.6
38 myasthenic syndrome, congenital, 14, with tubular aggregates 11.6
39 myasthenic syndrome, congenital, 3a, slow-channel 11.6
40 myasthenic syndrome, congenital, 3b, fast-channel 11.6
41 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 11.6
42 myasthenic syndrome, congenital, 4b, fast-channel 11.6
43 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 11.6
44 myasthenic syndrome, congenital, 15, without tubular aggregates 11.5
45 myasthenia, congenital, 12, with tubular aggregates 11.5
46 myasthenic syndrome, congenital, 20, presynaptic 11.5
47 myasthenic syndrome, congenital, 21, presynaptic 11.5
48 myasthenic syndrome, congenital, 19 11.5
49 myasthenic syndrome, congenital, 18 11.5
50 congenital nephrotic syndrome finnish type 10.9 CHRNE MUSK

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

Diseases related to Congenital Myasthenic Syndrome

Symptoms & Phenotypes for Congenital Myasthenic Syndrome

UMLS symptoms related to Congenital Myasthenic Syndrome:

facial paresis

MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome:

id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ACHE AGRN CHAT CHRNA1 CHRNE COL13A1
2 mortality/aging MP:0010768 10.13 ACHE AGRN CHAT CHRNA1 CHRNE DOK7
3 muscle MP:0005369 9.9 ACHE AGRN CHAT CHRNE COL13A1 DOK7
4 nervous system MP:0003631 9.8 UTRN ACHE AGRN CHAT CHRNA1 CHRNB1
5 respiratory system MP:0005388 9.36 MUSK RAPSN SCN4A SLC5A7 UTRN ACHE

Drugs & Therapeutics for Congenital Myasthenic Syndrome

Drugs for Congenital Myasthenic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
4-Aminopyridine Approved Phase 3 504-24-5 1727
2 3,4-diaminopyridine Phase 3
3 Potassium Channel Blockers Phase 3
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
6 Adrenergic Agents Phase 1, Phase 2
7 Anti-Asthmatic Agents Phase 1, Phase 2
8 Autonomic Agents Phase 1, Phase 2
9 Bronchodilator Agents Phase 1, Phase 2
10 Central Nervous System Stimulants Phase 1, Phase 2
11 Nasal Decongestants Phase 1, Phase 2
12 Neurotransmitter Agents Phase 1, Phase 2
13 Peripheral Nervous System Agents Phase 1, Phase 2
14 Respiratory System Agents Phase 1, Phase 2
15 Vasoconstrictor Agents Phase 1, Phase 2
16 Adrenergic Agonists Phase 1
17 Adrenergic beta-2 Receptor Agonists Phase 1
18 Adrenergic beta-Agonists Phase 1
19 Albuterol Phase 1
20 Tocolytic Agents Phase 1

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes Recruiting NCT02562066 Phase 3 amifampridine phosphate;Placebo
2 Ephedrine for the Treatment of Congenital Myasthenia Unknown status NCT00541216 Phase 1, Phase 2 Ephedrine
3 Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes Completed NCT01203592 Phase 1 Albuterol
4 Pregnancy Outcomes in Congenital Myasthenie Syndrome Completed NCT01474980
5 3,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS) Recruiting NCT00872950 3,4-DIAMINOPYRIDINE;3,4-Diaminopyridine
6 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
7 Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia and Lambert-Eaton Syndrome Available NCT03062631 3,4-Diaminopyridine
8 Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus Patients Available NCT02189720 Amifampridine Phosphate
9 3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM) Available NCT02012933 3,4-diaminopyridine
10 Treatment Use of 3,4-Diaminopyridine Available NCT01765140 3,4-diaminopyridine;3,4-diaminopyridine
11 Treatment of Lambert-Eaton Myasthenic Syndrome (LEMS) With 3, 4 DAP No longer available NCT01378546 3,4-diaminopyridine

Search NIH Clinical Center for Congenital Myasthenic Syndrome

Cochrane evidence based reviews: myasthenic syndromes, congenital

Genetic Tests for Congenital Myasthenic Syndrome

Genetic tests related to Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Congenital Myasthenic Syndrome 29
2 Congenital Myasthenic Syndromes 24 SCN4A

Anatomical Context for Congenital Myasthenic Syndrome

MalaCards organs/tissues related to Congenital Myasthenic Syndrome:

Eye, Testes, Skeletal Muscle

Publications for Congenital Myasthenic Syndrome

Articles related to Congenital Myasthenic Syndrome:

(show top 50) (show all 203)
id Title Authors Year
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. ( 28253535 )
A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle. ( 28937031 )
Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome. ( 28953919 )
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. ( 27748205 )
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. ( 28433477 )
COLQ-Related Congenital Myasthenic Syndrome and Response to Salbutamol Therapy. ( 28221310 )
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. ( 28544784 )
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop. ( 28221305 )
COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review. ( 28744372 )
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene. ( 28690392 )
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome. ( 28168212 )
Is the serum creatine kinase level elevated in congenital myasthenic syndrome? ( 27151963 )
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. ( 26659129 )
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. ( 27259756 )
Amifampridine phosphate in congenital myasthenic syndrome. ( 27348204 )
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up. ( 27634344 )
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. ( 26782015 )
Rapsyn congenital myasthenic syndrome worsened by fluoxetine. ( 27397848 )
Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family. ( 26789281 )
A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family. ( 27779167 )
Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency. ( 26993635 )
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. ( 27590285 )
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. ( 28024842 )
Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review. ( 27588369 )
A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report. ( 27717316 )
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. ( 27569547 )
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII I+1 Chain. ( 26626625 )
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. ( 26080897 )
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome. ( 26282582 )
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. ( 26133662 )
A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. ( 26429099 )
Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes. ( 25888793 )
Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis. ( 26363966 )
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. ( 25707578 )
Two cases of congenital myasthenic syndrome with vocal cord paralysis. ( 25695962 )
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. ( 26327126 )
Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome. ( 25562515 )
A severe congenital myasthenic syndrome with 'dropped head' caused by novel MUSK mutations. ( 25900532 )
Congenital myasthenic syndrome caused by mutations in DPAGT. ( 25500013 )
Effective Treatment of Albuterol in DOK7 Congenital Myasthenic Syndrome in Children. ( 26552645 )
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome. ( 25765662 )
Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. ( 25448156 )
Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family. ( 24938146 )
A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome. ( 25166616 )
Pharmacologic Treatment of Downstream of Tyrosine Kinase 7 Congenital Myasthenic Syndrome. ( 24425145 )
Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits. ( 25264167 )
Familial Dok7 congenital myasthenic syndrome responsive to salbutamol. ( 25033858 )
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. ( 24951643 )
Use of Next-Generation Sequencing as a Diagnostic Tool forA Congenital Myasthenic Syndrome. ( 25194721 )
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. ( 24183479 )

Variations for Congenital Myasthenic Syndrome

ClinVar genetic disease variations for Congenital Myasthenic Syndrome:

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1 DOK7 NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs) duplication Pathogenic rs606231128 GRCh38 Chromosome 4, 3493110: 3493113
2 DOK7 NM_173660.4(DOK7): c.548_551delTCCT (p.Phe183Cysfs) deletion Pathogenic rs606231130 GRCh38 Chromosome 4, 3485554: 3485557
3 DOK7 NM_173660.4(DOK7): c.1339_1342dupCTGG (p.Gly448Alafs) duplication Pathogenic rs606231131 GRCh38 Chromosome 4, 3493325: 3493328
4 DOK7 NM_173660.4(DOK7): c.1143dupC (p.Glu382Argfs) duplication Pathogenic rs606231132 GRCh38 Chromosome 4, 3493129: 3493129
5 DOK7 NM_173660.4(DOK7): c.539G> C (p.Gly180Ala) single nucleotide variant Pathogenic rs118203994 GRCh37 Chromosome 4, 3487272: 3487272
6 DOK7 NM_173660.4(DOK7): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs118203995 GRCh37 Chromosome 4, 3487334: 3487334
7 DOK7 NM_173660.4(DOK7): c.55-1G> T single nucleotide variant Pathogenic rs863223277 GRCh37 Chromosome 4, 3465232: 3465232
8 DOK7 DOK7, IVS3DS, G-T, +1 single nucleotide variant Pathogenic
9 DOK7 NM_173660.4(DOK7): c.1378dupC (p.Gln460Profs) duplication Pathogenic rs606231133 GRCh38 Chromosome 4, 3493364: 3493364
10 SCN4A NM_000334.4(SCN4A): c.4325T> A (p.Val1442Glu) single nucleotide variant Pathogenic rs121908553 GRCh37 Chromosome 17, 62019317: 62019317
11 RAPSN NM_005055.4(RAPSN): c.-210A> G single nucleotide variant Pathogenic rs786200905 GRCh38 Chromosome 11, 47449174: 47449174
12 CHAT NM_020549.4(CHAT): c.914T> C (p.Ile305Thr) single nucleotide variant Pathogenic rs75466054 GRCh37 Chromosome 10, 50833680: 50833680
13 AGRN NM_198576.3(AGRN): c.5125G> C (p.Gly1709Arg) single nucleotide variant Pathogenic rs199476396 GRCh37 Chromosome 1, 985955: 985955
14 AGRN NM_198576.3(AGRN): c.5179G> T (p.Val1727Phe) single nucleotide variant Pathogenic rs587777298 GRCh37 Chromosome 1, 986143: 986143
15 AGRN NM_198576.3(AGRN): c.1057C> T (p.Gln353Ter) single nucleotide variant Pathogenic rs587777299 GRCh37 Chromosome 1, 976962: 976962
16 DOK7 NM_173660.4(DOK7): c.957delC (p.Lys320Serfs) deletion Pathogenic rs794727884 GRCh37 Chromosome 4, 3494670: 3494670
17 DOK7 NM_173660.4(DOK7): c.1138dupG (p.Ala380Glyfs) duplication Pathogenic rs761899995 GRCh37 Chromosome 4, 3494851: 3494851
18 DOK7 NM_173660.4(DOK7): c.1476_1485dupTCCAGTCTGT (p.Gly496Serfs) duplication Pathogenic rs797045040 GRCh37 Chromosome 4, 3495189: 3495198
19 DOK7 NM_173660.4(DOK7): c.596delT (p.Ile199Thrfs) deletion Pathogenic rs797045528 GRCh37 Chromosome 4, 3487329: 3487329
20 AGRN NM_198576.3(AGRN): c.226G> A (p.Gly76Ser) single nucleotide variant Pathogenic rs756623659 GRCh38 Chromosome 1, 1022225: 1022225
21 AGRN NM_198576.3(AGRN): c.314A> T (p.Asn105Ile) single nucleotide variant Pathogenic rs879253787 GRCh38 Chromosome 1, 1022313: 1022313
22 AGRN NM_198576.3(AGRN): c.1362dupC (p.Ser455GlnfsTer8) duplication Pathogenic rs879253788 GRCh38 Chromosome 1, 1042140: 1042140
23 AGRN NM_198576.3(AGRN): c.5023G> A (p.Gly1675Ser) single nucleotide variant Pathogenic rs764160563 GRCh38 Chromosome 1, 1050473: 1050473
24 AGRN NM_198576.3(AGRN): c.5611G> A (p.Gly1871Arg) single nucleotide variant Pathogenic rs763818876 GRCh38 Chromosome 1, 1051775: 1051775
25 CHRNE NM_000080.3(CHRNE): c.1353dupG (p.Asn452GlufsTer4) duplication Pathogenic rs773526895 GRCh38 Chromosome 17, 4898865: 4898865
26 CHRNE NM_000080.3(CHRNE): c.1327delG (p.Glu443LysfsTer64) deletion Pathogenic rs763258280 GRCh37 Chromosome 17, 4802186: 4802186
27 CHRNE NM_000080.3(CHRNE): c.130dupG (p.Glu44GlyfsTer3) duplication Pathogenic rs762368691 GRCh38 Chromosome 17, 4902680: 4902680
28 SCN4A NM_000334.4(SCN4A): c.4360C> T (p.Arg1454Trp) single nucleotide variant Pathogenic rs879253789 GRCh37 Chromosome 17, 62019282: 62019282
29 CHRNE NG_008029.2: g.4107_5396del1290insCGCATCCAGA indel Pathogenic GRCh37 Chromosome 17, 4805975: 4807264
30 AGRN 1p36.33 deletion (0.48 Mb) deletion Pathogenic
31 RAPSN NM_005055.4(RAPSN): c.-199C> G single nucleotide variant Pathogenic rs886037842 GRCh37 Chromosome 11, 47470715: 47470715
32 DOK7 NM_173660.4(DOK7): c.1021_1039dup (p.Ser347Cysfs) duplication Pathogenic GRCh37 Chromosome 4, 3494734: 3494752
33 CHRNE NM_000080.3(CHRNE): c.1090dup (p.Arg364Profs) duplication Pathogenic GRCh37 Chromosome 17, 4802622: 4802622

Expression for Congenital Myasthenic Syndrome

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

Pathways for Congenital Myasthenic Syndrome

GO Terms for Congenital Myasthenic Syndrome

Cellular components related to Congenital Myasthenic Syndrome according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.97 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
2 postsynaptic membrane GO:0045211 9.86 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 MUSK
3 presynapse GO:0098793 9.65 CHAT SLC18A3 SLC5A7
4 acetylcholine-gated channel complex GO:0005892 9.62 CHRNA1 CHRNB1 CHRND CHRNE
5 basal lamina GO:0005605 9.58 ACHE AGRN COLQ
6 neuromuscular junction GO:0031594 9.56 ACHE CHRNA1 COLQ LRP4 MUSK RAPSN
7 synaptic cleft GO:0043083 9.49 ACHE COLQ
8 synapse GO:0045202 9.44 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
9 membrane GO:0016020 10.36 ACHE AGRN ALG14 CHRNA1 CHRNB1 CHRND
10 integral component of membrane GO:0016021 10.3 ACHE AGRN ALG14 CHRNA1 CHRNB1 CHRND
11 plasma membrane GO:0005886 10.27 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE

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

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.91 CHRNA1 CHRNB1 CHRND CHRNE SCN4A
2 cation transport GO:0006812 9.77 CHRNA1 CHRNB1 CHRND
3 cation transmembrane transport GO:0098655 9.77 CHRNB1 CHRND CHRNE
4 neurotransmitter secretion GO:0007269 9.74 CHAT SLC18A3 SLC5A7
5 response to nicotine GO:0035094 9.73 CHRNA1 CHRND CHRNE
6 regulation of membrane potential GO:0042391 9.73 CHRNA1 CHRNB1 CHRND CHRNE
7 muscle contraction GO:0006936 9.72 CHRNB1 CHRND CHRNE SCN4A UTRN
8 excitatory postsynaptic potential GO:0060079 9.71 CHRNA1 CHRNB1 CHRND CHRNE
9 neuromuscular junction development GO:0007528 9.67 CHRNA1 MUSK UTRN
10 regulation of postsynaptic membrane potential GO:0060078 9.65 CHRNA1 CHRNB1 CHRND CHRNE SCN4A
11 skeletal muscle contraction GO:0003009 9.63 CHRNA1 CHRNB1 CHRND
12 neuromuscular process GO:0050905 9.62 CHRNA1 CHRND
13 receptor clustering GO:0043113 9.62 AGRN LRP4
14 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.61 ALG14 DPAGT1
15 neurotransmitter catabolic process GO:0042135 9.61 ACHE COLQ
16 regulation of synaptic growth at neuromuscular junction GO:0008582 9.55 COLQ MUSK
17 musculoskeletal movement GO:0050881 9.54 CHRNA1 CHRND
18 neurotransmitter biosynthetic process GO:0042136 9.54 ACHE CHAT SLC5A7
19 skeletal muscle tissue growth GO:0048630 9.52 CHRNA1 CHRND
20 acetylcholine catabolic process in synaptic cleft GO:0001507 9.48 ACHE COLQ
21 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.46 COLQ LRP4 MUSK RAPSN
22 neuromuscular synaptic transmission GO:0007274 9.35 CHRNA1 CHRNB1 CHRND CHRNE SLC5A7
23 UDP-N-acetylglucosamine metabolic process GO:0006047 9.28 DPAGT1
24 synaptic transmission, cholinergic GO:0007271 9.1 CHRNA1 CHRNB1 CHRND CHRNE RAPSN SLC5A7
25 ion transport GO:0006811 10.05 CHRNA1 CHRNB1 CHRND CHRNE SCN4A SLC5A7

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

id Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.67 CHRNA1 CHRNB1 CHRND SCN4A
2 extracellular ligand-gated ion channel activity GO:0005230 9.56 CHRNA1 CHRNB1 CHRND CHRNE
3 acetylcholine receptor activity GO:0015464 9.5 CHRNA1 CHRNB1 CHRNE
4 ligand-gated ion channel activity GO:0015276 9.46 CHRNA1 CHRNB1 CHRND CHRNE
5 laminin binding GO:0043236 9.4 ACHE AGRN
6 acetylcholine-gated cation-selective channel activity GO:0022848 9.26 CHRNA1 CHRNB1 CHRND CHRNE
7 acetylcholine binding GO:0042166 9.1 ACHE CHRNA1 CHRNB1 CHRND CHRNE SLC18A3

Sources for Congenital Myasthenic Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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