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 49 24 55 36 28 14
Congenital Myasthenia 23 49 24 50
Cms 49 24 55
Myasthenic Syndromes, Congenital 41 69
Congenital Myasthenic Syndromes 23 24
Congenital Myasthenic Syndrome Ib 69
Familial Limb-Girdle Myasthenia 12
Myasthenic Syndromes Congenital 51
Myasthenia - Congenital 50


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...


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Disease Ontology 12 DOID:3635
MeSH 41 D020294
NCIt 46 C84647
SNOMED-CT 64 230672006
Orphanet 55 ORPHA590
MESH via Orphanet 42 D020294
UMLS via Orphanet 70 C0751882
ICD10 via Orphanet 33 G70.2
KEGG 36 H00770

Summaries for Congenital Myasthenic Syndrome

NINDS : 50 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 slow-channel congenital myasthenic syndrome and congenital myasthenic syndrome with episodic apnea, and has symptoms including facial paresis An important gene associated with Congenital Myasthenic Syndrome is CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Glycerophospholipid metabolism. 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 mortality/aging and behavior/neurological

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 : 24 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 : 49 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, 10 Myasthenic Syndrome, Congenital, 5
Myasthenic Syndrome, Congenital, 12 Myasthenic Syndrome, Congenital, 16
Myasthenic Syndrome, Congenital, 13 Myasthenic Syndrome, Congenital, 8
Myasthenic Syndrome, Congenital, 22 Myasthenic Syndrome, Congenital, 15
Myasthenic Syndrome, Congenital, 14 Myasthenic Syndrome, Congenital, 17
Myasthenic Syndrome, Congenital, 18 Myasthenic Syndrome, Congenital, 19

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 slow-channel congenital myasthenic syndrome 34.3 CHRNA1 CHRNB1 CHRND CHRNE
2 congenital myasthenic syndrome with episodic apnea 34.3 CHAT SLC5A7
3 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 34.1 CHRNE GFPT1 MUSK
4 myasthenic syndrome, congenital, 5 33.9 ACHE COLQ DPAGT1
5 myasthenic syndrome, congenital, 1a, slow-channel 33.7 CHRNA1 CHRNB1
6 congenital myasthenic syndromes with glycosylation defect 33.7 ALG14 DPAGT1 GFPT1
7 myasthenic syndrome, congenital, 1b, fast-channel 33.5 CHRNA1 CHRNE
8 presynaptic congenital myasthenic syndromes 33.4 AGRN CHAT COL13A1 MYO9A SLC25A1 SLC5A7
9 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 33.4 CHRNE MUSK
10 postsynaptic congenital myasthenic syndromes 33.1 AGRN CHRNA1 CHRNB1 CHRND CHRNE COL13A1
11 myasthenia gravis 30.6 ACHE AGRN CHRNA1 CHRNE MUSK RAPSN
12 myasthenic syndrome, congenital, 6, presynaptic 12.1
13 myasthenic syndrome, congenital, 10 11.9
14 myasthenia, congenital, refractory to acetylcholinesterase inhibitors 11.9
15 myasthenic syndrome, congenital, 4a, slow-channel 11.8
16 myasthenic syndrome, congenital, 16 11.8
17 myasthenic syndrome, congenital, 8 11.8
18 myasthenic syndrome, congenital, 13 11.8
19 myasthenic syndrome, congenital, 7, presynaptic 11.7
20 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 11.7
21 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 11.7
22 myasthenic syndrome, congenital, 14 11.7
23 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 11.7
24 myasthenic syndrome, congenital, 3a, slow-channel 11.7
25 myasthenic syndrome, congenital, 3b, fast-channel 11.7
26 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 11.7
27 myasthenic syndrome, congenital, 4b, fast-channel 11.7
28 capillary malformation-arteriovenous malformation 11.7
29 myasthenic syndrome, congenital, 12 11.7
30 myasthenic syndrome, congenital, 15 11.7
31 myasthenic syndrome, congenital, 17 11.7
32 myasthenic syndrome, congenital, 20, presynaptic 11.7
33 myasthenic syndrome, congenital, 21, presynaptic 11.7
34 myasthenic syndrome, congenital, 18 11.6
35 myasthenic syndrome, congenital, 19 11.6
36 myasthenic syndrome, congenital, 2a, slow-channel 11.1
37 muscular dystrophy-dystroglycanopathy , type c, 14 10.9
38 myasthenic syndrome, congenital, 22 10.9
39 multiple pterygium syndrome, lethal type 10.6 CHRNA1 CHRND RAPSN
40 myopathy, tubular aggregate, 1 10.5 DOK7 DPAGT1 GFPT1
41 multiple pterygium syndrome, escobar variant 10.5 CHRNA1 CHRNB1 CHRND CHRNE DOK7
42 fetal akinesia deformation sequence 10.5 CHRNA1 CHRND DOK7 MUSK RAPSN
43 peripheral nervous system disease 10.5 DPAGT1 MUSK RAPSN
44 neonatal myasthenia gravis 10.5 DPAGT1 MUSK
45 cystic lymphangioma 10.5 CHRND DOK7
46 sclerosteosis 2 10.4 AGRN DOK7 DPAGT1 LRP4 MUSK RAPSN
47 wernicke-korsakoff syndrome 10.2 ACHE CHAT
48 cenani-lenz syndactyly syndrome 10.2 ACHE AGRN CHAT DOK7 DPAGT1 LRP4
49 neuromuscular junction disease 10.0 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
50 myasthenia gravis congenital 10.0

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:

# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.07 RAPSN SCN4A CHRNE SLC5A7 DOK7 ACHE
2 behavior/neurological MP:0005386 10.06 SCN4A CHRNE COL13A1 SLC5A7 DOK7 ACHE
3 muscle MP:0005369 9.81 SCN4A CHRNE COL13A1 DOK7 ACHE AGRN
4 nervous system MP:0003631 9.77 CHRNB1 CHRNE COL13A1 SLC5A7 DOK7 ACHE
5 respiratory system MP:0005388 9.32 CHRNE SCN4A SLC5A7 DOK7 ACHE AGRN

Drugs & Therapeutics for Congenital Myasthenic Syndrome

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

(show all 20)
# 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 Respiratory System Agents Phase 1, Phase 2
7 Adrenergic Agents Phase 1, Phase 2
8 Central Nervous System Stimulants Phase 1, Phase 2
9 Nasal Decongestants Phase 1, Phase 2
10 Neurotransmitter Agents Phase 1, Phase 2
11 Vasoconstrictor Agents Phase 1, Phase 2
12 Peripheral Nervous System Agents Phase 1, Phase 2
13 Anti-Asthmatic Agents Phase 1, Phase 2
14 Autonomic Agents Phase 1, Phase 2
15 Bronchodilator 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)

# 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:

# Genetic test Affiliating Genes
1 Congenital Myasthenic Syndrome 28 MYO9A SLC25A1 SLC5A7

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 217)
# Title Authors Year
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. ( 29441694 )
Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome. ( 29150079 )
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. ( 29383513 )
Decrement with high frequency repetitive nerve stimulation in a RAPSN congenital myasthenic syndrome. ( 29053879 )
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. ( 29130637 )
Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family. ( 29356258 )
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. ( 29189923 )
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. ( 29377152 )
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. ( 27748205 )
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome. ( 28168212 )
A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle. ( 28937031 )
COLQ-Related Congenital Myasthenic Syndrome and Response to Salbutamol Therapy. ( 28221310 )
COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review. ( 28744372 )
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop. ( 28221305 )
Tubular aggregates in congenital myasthenic syndrome. ( 29311015 )
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. ( 28544784 )
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. ( 29088354 )
Congenital Myasthenic Syndrome due to<i>DOK7</i>mutations in a family from Chile. ( 29118959 )
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. ( 28253535 )
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome. ( 29258548 )
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. ( 28433477 )
Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome. ( 28953919 )
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene. ( 28690392 )
New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome: A case report. ( 29390429 )
Congenital Myasthenic Syndrome in a Mixed Breed Dog. ( 29090216 )
Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency. ( 26993635 )
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 )
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 )
Is the serum creatine kinase level elevated in congenital myasthenic syndrome? ( 27151963 )
Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review. ( 27588369 )
Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family. ( 26789281 )
Rapsyn congenital myasthenic syndrome worsened by fluoxetine. ( 27397848 )
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. ( 27590285 )
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. ( 28024842 )
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. ( 27259756 )
A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family. ( 27779167 )
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. ( 27569547 )
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. ( 26659129 )
Amifampridine phosphate in congenital myasthenic syndrome. ( 27348204 )
Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis. ( 26363966 )
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. ( 26133662 )
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. ( 26080897 )
Two cases of congenital myasthenic syndrome with vocal cord paralysis. ( 25695962 )
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome. ( 25765662 )
Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome. ( 25562515 )
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome. ( 26282582 )
Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes. ( 25888793 )
Effective Treatment of Albuterol in DOK7 Congenital Myasthenic Syndrome in Children. ( 26552645 )
Congenital myasthenic syndrome caused by mutations in DPAGT. ( 25500013 )

Variations for Congenital Myasthenic Syndrome

ClinVar genetic disease variations for Congenital Myasthenic Syndrome:

6 (show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAPSN NM_005055.4(RAPSN): c.-210A> G single nucleotide variant Pathogenic rs786200905 GRCh38 Chromosome 11, 47449174: 47449174
2 CHAT NM_020549.4(CHAT): c.914T> C (p.Ile305Thr) single nucleotide variant Pathogenic rs75466054 GRCh37 Chromosome 10, 50833680: 50833680
3 AGRN NM_198576.3(AGRN): c.5125G> C (p.Gly1709Arg) single nucleotide variant Pathogenic rs199476396 GRCh37 Chromosome 1, 985955: 985955
4 AGRN NM_198576.3(AGRN): c.5179G> T (p.Val1727Phe) single nucleotide variant Pathogenic rs587777298 GRCh37 Chromosome 1, 986143: 986143
5 AGRN NM_198576.3(AGRN): c.1057C> T (p.Gln353Ter) single nucleotide variant Pathogenic rs587777299 GRCh37 Chromosome 1, 976962: 976962
6 DOK7 NM_173660.4(DOK7): c.957delC (p.Lys320Serfs) deletion Pathogenic rs794727884 GRCh37 Chromosome 4, 3494670: 3494670
7 DOK7 NM_173660.4(DOK7): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs118203995 GRCh37 Chromosome 4, 3487334: 3487334
8 DOK7 NM_173660.4(DOK7): c.55-1G> T single nucleotide variant Pathogenic rs863223277 GRCh37 Chromosome 4, 3465232: 3465232
9 DOK7 NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs) duplication Pathogenic rs606231128 GRCh38 Chromosome 4, 3493110: 3493113
10 DOK7 NM_173660.4(DOK7): c.548_551delTCCT (p.Phe183Cysfs) deletion Pathogenic rs606231130 GRCh38 Chromosome 4, 3485554: 3485557
11 DOK7 NM_173660.4(DOK7): c.1339_1342dupCTGG (p.Gly448Alafs) duplication Pathogenic rs606231131 GRCh38 Chromosome 4, 3493325: 3493328
12 DOK7 NM_173660.4(DOK7): c.1143dupC (p.Glu382Argfs) duplication Pathogenic rs606231132 GRCh38 Chromosome 4, 3493129: 3493129
13 DOK7 NM_173660.4(DOK7): c.539G> C (p.Gly180Ala) single nucleotide variant Pathogenic rs118203994 GRCh37 Chromosome 4, 3487272: 3487272
14 DOK7 DOK7, IVS3DS, G-T, +1 single nucleotide variant Pathogenic
15 DOK7 NM_173660.4(DOK7): c.1378dupC (p.Gln460Profs) duplication Pathogenic rs606231133 GRCh38 Chromosome 4, 3493364: 3493364
16 SCN4A NM_000334.4(SCN4A): c.4325T> A (p.Val1442Glu) single nucleotide variant Pathogenic rs121908553 GRCh37 Chromosome 17, 62019317: 62019317
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
34 DOK7 NC_000004.12: g.(?_3485519)_(3493521_?)del deletion Pathogenic GRCh37 Chromosome 4, 3487246: 3495248
35 DOK7 NC_000004.12: g.(?_3473386)_(3489816_?)del deletion Pathogenic GRCh38 Chromosome 4, 3473386: 3489816

Expression for Congenital Myasthenic Syndrome

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

Pathways for Congenital Myasthenic Syndrome

Pathways related to Congenital Myasthenic Syndrome according to KEGG:

# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Glycerophospholipid metabolism hsa00564
3 Cholinergic synapse hsa04725
4 ECM-receptor interaction hsa04512
5 Amino sugar and nucleotide sugar metabolism hsa00520

GO Terms for Congenital Myasthenic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.93 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
2 postsynaptic membrane GO:0045211 9.8 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 MUSK
3 acetylcholine-gated channel complex GO:0005892 9.62 CHRNA1 CHRNB1 CHRND CHRNE
4 basal lamina GO:0005605 9.54 ACHE AGRN COLQ
5 neuromuscular junction GO:0031594 9.5 ACHE CHRNA1 COLQ LRP4 MUSK RAPSN
6 synaptic cleft GO:0043083 9.48 ACHE COLQ
7 synapse GO:0045202 9.44 ACHE AGRN CHAT CHRNA1 CHRNB1 CHRND
8 membrane GO:0016020 10.36 ACHE AGRN ALG14 CHRNA1 CHRNB1 CHRND
9 plasma membrane GO:0005886 10.3 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
10 integral component of membrane GO:0016021 10.28 ACHE AGRN ALG14 CHRNA1 CHRNB1 CHRND

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.95 CHRNA1 CHRNB1 CHRND CHRNE SCN4A SLC25A1
2 ion transmembrane transport GO:0034220 9.91 CHRNA1 CHRNB1 CHRND CHRNE SCN4A
3 muscle contraction GO:0006936 9.8 CHRNB1 CHRND CHRNE SCN4A
4 cation transmembrane transport GO:0098655 9.77 CHRNB1 CHRND CHRNE
5 cation transport GO:0006812 9.76 CHRNA1 CHRNB1 CHRND
6 regulation of membrane potential GO:0042391 9.73 CHRNA1 CHRNB1 CHRND CHRNE
7 response to nicotine GO:0035094 9.71 CHRNA1 CHRND CHRNE
8 excitatory postsynaptic potential GO:0060079 9.67 CHRNA1 CHRNB1 CHRND CHRNE
9 regulation of postsynaptic membrane potential GO:0060078 9.65 CHRNA1 CHRNB1 CHRND CHRNE SCN4A
10 skeletal muscle contraction GO:0003009 9.63 CHRNA1 CHRNB1 CHRND
11 neuromuscular process GO:0050905 9.62 CHRNA1 CHRND
12 receptor clustering GO:0043113 9.61 AGRN LRP4
13 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.61 ALG14 DPAGT1
14 neurotransmitter catabolic process GO:0042135 9.59 ACHE COLQ
15 UDP-N-acetylglucosamine metabolic process GO:0006047 9.58 DPAGT1 GFPT1
16 musculoskeletal movement GO:0050881 9.56 CHRNA1 CHRND
17 regulation of synaptic growth at neuromuscular junction GO:0008582 9.55 COLQ MUSK
18 skeletal muscle tissue growth GO:0048630 9.52 CHRNA1 CHRND
19 neurotransmitter biosynthetic process GO:0042136 9.5 ACHE CHAT SLC5A7
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 synaptic transmission, cholinergic GO:0007271 9.1 CHRNA1 CHRNB1 CHRND CHRNE RAPSN SLC5A7
24 ion transport GO:0006811 10.04 CHRNA1 CHRNB1 CHRND CHRNE SCN4A SLC5A7

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

# 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 9.02 ACHE CHRNA1 CHRNB1 CHRND CHRNE

Sources for Congenital Myasthenic Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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