MCID: CNG001
MIFTS: 66

Congenital Myasthenic Syndrome

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

Aliases & Classifications for Congenital Myasthenic Syndrome

MalaCards integrated aliases for Congenital Myasthenic Syndrome:

Name: Congenital Myasthenic Syndrome 12 54 26 60 38 30 6 15
Congenital Myasthenia 25 54 26 55
Cms 54 26 60
Myasthenic Syndromes, Congenital 45 74
Congenital Myasthenic Syndromes 25 26
Congenital Myasthenic Syndrome Ib 74
Syndrome, Myasthenic, Congenital 41
Myasthenic Syndromes Congenital 56
Myasthenia - Congenital 55

Characteristics:

Orphanet epidemiological data:

60
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;

GeneReviews:

25
Penetrance In general, reported cms pathogenic variants have complete penetrance...

Classifications:



Summaries for Congenital Myasthenic Syndrome

NINDS : 55 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 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency, 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 Amifampridine and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and testes, and related phenotypes are ptosis and dysphagia

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 : 26 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 : 54 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.

Wikipedia : 77 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 445)
# Related Disease Score Top Affiliating Genes
1 slow-channel congenital myasthenic syndrome 34.3 CHRNA1 CHRNB1 CHRND CHRNE
2 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 34.1 CHRNE DOK7 MUSK
3 congenital myasthenic syndrome with episodic apnea 34.1 CHAT SLC5A7
4 myasthenic syndrome, congenital, 5 34.1 ACHE COLQ DPAGT1
5 myasthenic syndrome, congenital, 1b, fast-channel 33.9 CHRNA1 CHRNE
6 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 33.9 CHRNE GFPT1
7 congenital myasthenic syndromes with glycosylation defect 33.8 ALG14 DPAGT1 GFPT1
8 presynaptic congenital myasthenic syndromes 33.7 AGRN CHAT COL13A1 MYO9A SLC25A1 SLC5A7
9 myasthenic syndrome, congenital, 6, presynaptic 33.6 CHAT DPAGT1
10 postsynaptic congenital myasthenic syndromes 33.6 AGRN CHRNA1 CHRNB1 CHRND CHRNE COL13A1
11 myasthenia gravis 30.9 ACHE AGRN CHRNA1 CHRNE MUSK RAPSN
12 myopathy, tubular aggregate, 1 30.4 DOK7 DPAGT1 GFPT1
13 neonatal myasthenia gravis 30.4 DPAGT1 MUSK
14 sclerosteosis 2 30.1 AGRN DOK7 DPAGT1 MUSK RAPSN
15 myasthenic syndrome, congenital, 16 12.2
16 myasthenic syndrome, congenital, 4a, slow-channel 12.2
17 myasthenic syndrome, congenital, 8 12.2
18 myasthenic syndrome, congenital, 13 12.2
19 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 12.2
20 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 12.1
21 myasthenic syndrome, congenital, 14 12.1
22 myasthenic syndrome, congenital, 1a, slow-channel 12.1
23 myasthenic syndrome, congenital, 4b, fast-channel 12.1
24 myasthenic syndrome, congenital, 3b, fast-channel 12.1
25 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 12.1
26 myasthenic syndrome, congenital, 12 12.1
27 myasthenia, congenital, refractory to acetylcholinesterase inhibitors 12.1
28 myasthenic syndrome, congenital, 10 12.0
29 myasthenic syndrome, congenital, 15 12.0
30 myasthenic syndrome, congenital, 20, presynaptic 12.0
31 myasthenic syndrome, congenital, 21, presynaptic 12.0
32 myasthenic syndrome, congenital, 19 12.0
33 capillary malformation-arteriovenous malformation 1 11.9
34 myasthenic syndrome, congenital, 7, presynaptic 11.9
35 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 11.9
36 myasthenic syndrome, congenital, 3a, slow-channel 11.9
37 myasthenic syndrome, congenital, 17 11.8
38 myasthenic syndrome, congenital, 18 11.8
39 myasthenic syndrome, congenital, 2a, slow-channel 11.6
40 chronic mountain sickness 11.5
41 myasthenic syndrome, congenital, 25, presynaptic 11.4
42 muscular dystrophy-dystroglycanopathy , type c, 14 11.4
43 myasthenic syndrome, congenital, 24, presynaptic 11.4
44 chiari malformation type ii 11.3
45 chiari malformation 11.3
46 malaria 11.3
47 aortic aneurysm, familial abdominal, 1 11.3
48 thyroid cancer, nonmedullary, 1 11.2
49 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
50 lipomatosis, multiple 11.1

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



Diseases related to Congenital Myasthenic Syndrome

Symptoms & Phenotypes for Congenital Myasthenic Syndrome

Human phenotypes related to Congenital Myasthenic Syndrome:

60 33 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
2 dysphagia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002015
3 proximal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003701
4 neck muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000467
5 fatigable weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003473
6 poor suck 60 33 hallmark (90%) Very frequent (99-80%) HP:0002033
7 sudden episodic apnea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002882
8 intermittent episodes of respiratory insufficiency due to muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0004889
9 frontalis muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0004661
10 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
11 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
12 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
13 generalized muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003324
14 arthrogryposis multiplex congenita 60 33 frequent (33%) Frequent (79-30%) HP:0002804
15 easy fatigability 60 33 frequent (33%) Frequent (79-30%) HP:0003388
16 ophthalmoplegia 60 33 frequent (33%) Frequent (79-30%) HP:0000602
17 nasal speech 60 33 frequent (33%) Frequent (79-30%) HP:0001611
18 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
19 decreased fetal movement 60 33 frequent (33%) Frequent (79-30%) HP:0001558
20 cyanosis 60 33 frequent (33%) Frequent (79-30%) HP:0000961
21 bulbar palsy 60 33 frequent (33%) Frequent (79-30%) HP:0001283
22 spinal deformities 60 33 frequent (33%) Frequent (79-30%) HP:0008443
23 muscle fiber atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0100295
24 episodic respiratory distress 60 33 frequent (33%) Frequent (79-30%) HP:0004885
25 central sleep apnea 60 33 frequent (33%) Frequent (79-30%) HP:0010536
26 choking episodes 60 33 frequent (33%) Frequent (79-30%) HP:0030842
27 emg: impaired neuromuscular transmission 60 33 frequent (33%) Frequent (79-30%) HP:0100285
28 apneic episodes precipitated by illness, fatigue, stress 60 33 frequent (33%) Frequent (79-30%) HP:0002872
29 nasal regurgitation 60 33 frequent (33%) Frequent (79-30%) HP:0011469
30 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
31 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
32 dysphonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001618
33 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
34 waddling gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002515
35 spinal rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0003306
36 emg: myopathic abnormalities 60 33 occasional (7.5%) Occasional (29-5%) HP:0003458
37 toe walking 60 33 occasional (7.5%) Occasional (29-5%) HP:0040083
38 motor delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001270
39 kyphoscoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002751
40 long face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000276
41 areflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001284
42 limb-girdle muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003325
43 distal lower limb muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0009053
44 weak cry 60 33 occasional (7.5%) Occasional (29-5%) HP:0001612
45 stridor 60 33 occasional (7.5%) Occasional (29-5%) HP:0010307
46 poor head control 60 33 occasional (7.5%) Occasional (29-5%) HP:0002421
47 distal amyotrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003693
48 central hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011398
49 narrow jaw 60 33 occasional (7.5%) Occasional (29-5%) HP:0012801
50 low-set ears 60 33 very rare (1%) Very rare (<4-1%) HP:0000369

UMLS symptoms related to Congenital Myasthenic Syndrome:


facial paresis

MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ACHE AGRN CHAT CHRNA1 CHRNE COL13A1
2 mortality/aging MP:0010768 10.07 ACHE AGRN CHAT CHRNA1 CHRNE DOK7
3 muscle MP:0005369 9.81 ACHE AGRN CHAT CHRNE COL13A1 DOK7
4 nervous system MP:0003631 9.73 ACHE AGRN CHAT CHRNA1 CHRNB1 CHRNE
5 respiratory system MP:0005388 9.28 ACHE AGRN CHAT CHRNE DOK7 MUSK

Drugs & Therapeutics for Congenital Myasthenic Syndrome

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amifampridine Approved, Investigational Phase 3,Not Applicable 54-96-6
2 Peripheral Nervous System Agents Phase 3,Phase 1,Phase 2,Not Applicable
3 Potassium Channel Blockers Phase 3,Not Applicable
4 Neuromuscular Agents Phase 3,Not Applicable
5
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
6
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
7 Vasoconstrictor Agents Phase 1, Phase 2
8 Adrenergic Agents Phase 1, Phase 2
9 Nasal Decongestants Phase 1, Phase 2
10 Bronchodilator Agents Phase 1, Phase 2
11 Respiratory System Agents Phase 1, Phase 2
12 Central Nervous System Stimulants Phase 1, Phase 2
13 Neurotransmitter Agents Phase 1, Phase 2
14 Anti-Asthmatic Agents Phase 1, Phase 2
15 Autonomic Agents Phase 1, Phase 2
16 Sympathomimetics Phase 1, Phase 2
17 Adrenergic beta-Agonists Phase 1
18 Adrenergic beta-2 Receptor Agonists Phase 1
19 Tocolytic Agents Phase 1
20 Adrenergic Agonists Phase 1
21 Albuterol 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 Not Applicable 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 No longer 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 30 MYO9A SLC25A1 SLC5A7

Anatomical Context for Congenital Myasthenic Syndrome

MalaCards organs/tissues related to Congenital Myasthenic Syndrome:

42
Eye, Kidney, Testes, Skeletal Muscle, Lung, Breast, Thyroid

Publications for Congenital Myasthenic Syndrome

Articles related to Congenital Myasthenic Syndrome:

(show top 50) (show all 269)
# Title Authors Year
1
Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome. ( 30635494 )
2019
2
Pregnancy-associated respiratory failure in MuSK congenital myasthenic syndrome. ( 30635923 )
2019
3
Congenital myasthenic syndrome caused by novel COL13A1 mutations. ( 30767057 )
2019
4
Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation. ( 30846217 )
2019
5
Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea. ( 30914958 )
2019
6
Congenital Myasthenic Syndrome Type 19 due to a novel mutation in the COL13A1 gene. ( 31018245 )
2019
7
No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome. ( 31037086 )
2019
8
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. ( 31081514 )
2019
9
Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome. ( 30429133 )
2018
10
Delayed diagnosis of DOK7 congenital myasthenic syndrome: Case report and literature review. ( 30588388 )
2018
11
Decrement with high frequency repetitive nerve stimulation in a RAPSN congenital myasthenic syndrome. ( 29053879 )
2018
12
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. ( 29130637 )
2018
13
Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome. ( 29150079 )
2018
14
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. ( 29189923 )
2018
15
Tubular aggregates in congenital myasthenic syndrome. ( 29311015 )
2018
16
Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family. ( 29356258 )
2018
17
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. ( 29377152 )
2018
18
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. ( 29383513 )
2018
19
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. ( 29441694 )
2018
20
CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report. ( 29702980 )
2018
21
Isolated PREPL deficiency associated with congenital myasthenic syndrome-22. ( 29913539 )
2018
22
Unique presentation of rapidly fluctuating symptoms in a child with congenital myasthenic syndrome due to RAPSN mutation. ( 30028532 )
2018
23
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort. ( 30124556 )
2018
24
A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20. ( 30172469 )
2018
25
Clinical Reasoning: A child with arthrogryposis: Congenital myasthenic syndrome-CHRNA1 mutation. ( 30177536 )
2018
26
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. ( 30266223 )
2018
27
Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit. ( 29367459 )
2018
28
Fast and slow-twitching muscles are differentially affected by reduced cholinergic transmission in mice deficient for VAChT: A mouse model for congenital myasthenia. ( 30003945 )
2018
29
Rapsyn congenital myasthenic syndrome worsened by fluoxetine. ( 27397848 )
2017
30
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. ( 27748205 )
2017
31
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. ( 28024842 )
2017
32
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome. ( 28168212 )
2017
33
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop. ( 28221305 )
2017
34
COLQ-Related Congenital Myasthenic Syndrome and Response to Salbutamol Therapy. ( 28221310 )
2017
35
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. ( 28253535 )
2017
36
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. ( 28433477 )
2017
37
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. ( 28544784 )
2017
38
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene. ( 28690392 )
2017
39
COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review. ( 28744372 )
2017
40
A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle. ( 28937031 )
2017
41
Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome. ( 28953919 )
2017
42
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. ( 29088354 )
2017
43
Congenital Myasthenic Syndrome in a Mixed Breed Dog. ( 29090216 )
2017
44
Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile. ( 29118959 )
2017
45
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome. ( 29258548 )
2017
46
New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome: A case report. ( 29390429 )
2017
47
DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency. ( 28716243 )
2017
48
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. ( 28188302 )
2017
49
Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene. ( 28712839 )
2017
50
Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children. ( 26552645 )
2016

Variations for Congenital Myasthenic Syndrome

ClinVar genetic disease variations for Congenital Myasthenic Syndrome:

6 (show top 50) (show all 51)
# 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.1124_1127dupTGCC (p.Ala378Serfs) duplication Pathogenic rs606231128 GRCh37 Chromosome 4, 3494837: 3494840
3 SCN4A NM_000334.4(SCN4A): c.4325T> A (p.Val1442Glu) single nucleotide variant Pathogenic rs121908553 GRCh37 Chromosome 17, 62019317: 62019317
4 SCN4A NM_000334.4(SCN4A): c.4325T> A (p.Val1442Glu) single nucleotide variant Pathogenic rs121908553 GRCh38 Chromosome 17, 63941957: 63941957
5 RAPSN NM_032645.4(RAPSN): c.264C> A (p.Asn88Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894299 GRCh37 Chromosome 11, 47469631: 47469631
6 RAPSN NM_032645.4(RAPSN): c.264C> A (p.Asn88Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894299 GRCh38 Chromosome 11, 47448079: 47448079
7 RAPSN NM_005055.4(RAPSN): c.-210A> G single nucleotide variant Pathogenic rs786200905 GRCh38 Chromosome 11, 47449174: 47449174
8 RAPSN NM_005055.4(RAPSN): c.-210A> G single nucleotide variant Pathogenic rs786200905 GRCh37 Chromosome 11, 47470726: 47470726
9 CHAT NM_020549.4(CHAT): c.914T> C (p.Ile305Thr) single nucleotide variant Pathogenic rs75466054 GRCh37 Chromosome 10, 50833680: 50833680
10 CHAT NM_020549.4(CHAT): c.914T> C (p.Ile305Thr) single nucleotide variant Pathogenic rs75466054 GRCh38 Chromosome 10, 49625634: 49625634
11 AGRN NM_198576.3(AGRN): c.5125G> C (p.Gly1709Arg) single nucleotide variant Pathogenic rs199476396 GRCh37 Chromosome 1, 985955: 985955
12 AGRN NM_198576.3(AGRN): c.5125G> C (p.Gly1709Arg) single nucleotide variant Pathogenic rs199476396 GRCh38 Chromosome 1, 1050575: 1050575
13 SCN4A NM_000334.4(SCN4A): c.737C> T (p.Ser246Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80338951 GRCh37 Chromosome 17, 62045682: 62045682
14 SCN4A NM_000334.4(SCN4A): c.737C> T (p.Ser246Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80338951 GRCh38 Chromosome 17, 63968322: 63968322
15 AGRN NM_198576.3(AGRN): c.5179G> T (p.Val1727Phe) single nucleotide variant Pathogenic rs587777298 GRCh37 Chromosome 1, 986143: 986143
16 AGRN NM_198576.3(AGRN): c.5179G> T (p.Val1727Phe) single nucleotide variant Pathogenic rs587777298 GRCh38 Chromosome 1, 1050763: 1050763
17 AGRN NM_198576.3(AGRN): c.1057C> T (p.Gln353Ter) single nucleotide variant Pathogenic rs587777299 GRCh37 Chromosome 1, 976962: 976962
18 AGRN NM_198576.3(AGRN): c.1057C> T (p.Gln353Ter) single nucleotide variant Pathogenic rs587777299 GRCh38 Chromosome 1, 1041582: 1041582
19 AGRN NM_198576.3(AGRN): c.226G> A (p.Gly76Ser) single nucleotide variant Pathogenic rs756623659 GRCh38 Chromosome 1, 1022225: 1022225
20 AGRN NM_198576.3(AGRN): c.226G> A (p.Gly76Ser) single nucleotide variant Pathogenic rs756623659 GRCh37 Chromosome 1, 957605: 957605
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.314A> T (p.Asn105Ile) single nucleotide variant Pathogenic rs879253787 GRCh37 Chromosome 1, 957693: 957693
23 AGRN NM_198576.3(AGRN): c.1362dupC (p.Ser455Glnfs) duplication Pathogenic rs879253788 GRCh38 Chromosome 1, 1042140: 1042140
24 AGRN NM_198576.3(AGRN): c.1362dupC (p.Ser455Glnfs) duplication Pathogenic rs879253788 GRCh37 Chromosome 1, 977520: 977520
25 AGRN NM_198576.3(AGRN): c.5023G> A (p.Gly1675Ser) single nucleotide variant Pathogenic rs764160563 GRCh38 Chromosome 1, 1050473: 1050473
26 AGRN NM_198576.3(AGRN): c.5023G> A (p.Gly1675Ser) single nucleotide variant Pathogenic rs764160563 GRCh37 Chromosome 1, 985853: 985853
27 AGRN NM_198576.3(AGRN): c.5611G> A (p.Gly1871Arg) single nucleotide variant Pathogenic rs763818876 GRCh38 Chromosome 1, 1051775: 1051775
28 AGRN NM_198576.3(AGRN): c.5611G> A (p.Gly1871Arg) single nucleotide variant Pathogenic rs763818876 GRCh37 Chromosome 1, 987155: 987155
29 CHRNE NM_000080.4(CHRNE): c.1353dup (p.Asn452Glufs) duplication Pathogenic rs773526895 GRCh38 Chromosome 17, 4898865: 4898865
30 CHRNE NM_000080.4(CHRNE): c.1353dup (p.Asn452Glufs) duplication Pathogenic rs773526895 GRCh37 Chromosome 17, 4802160: 4802160
31 CHRNE NM_000080.3(CHRNE): c.1327delG (p.Glu443LysfsTer64) deletion Pathogenic rs763258280 GRCh37 Chromosome 17, 4802186: 4802186
32 CHRNE NM_000080.3(CHRNE): c.1327delG (p.Glu443LysfsTer64) deletion Pathogenic rs763258280 GRCh38 Chromosome 17, 4898891: 4898891
33 CHRNE NM_000080.4(CHRNE): c.130dup (p.Glu44Glyfs) duplication Pathogenic rs762368691 GRCh38 Chromosome 17, 4902680: 4902680
34 CHRNE NM_000080.4(CHRNE): c.130dup (p.Glu44Glyfs) duplication Pathogenic rs762368691 GRCh37 Chromosome 17, 4805975: 4805975
35 SCN4A NM_000334.4(SCN4A): c.4360C> T (p.Arg1454Trp) single nucleotide variant Pathogenic rs879253789 GRCh37 Chromosome 17, 62019282: 62019282
36 SCN4A NM_000334.4(SCN4A): c.4360C> T (p.Arg1454Trp) single nucleotide variant Pathogenic rs879253789 GRCh38 Chromosome 17, 63941922: 63941922
37 CHRNE NG_008029.2: g.4107_5396del1290insCGCATCCAGA indel Pathogenic GRCh38 Chromosome 17, 4902680: 4903969
38 CHRNE NG_008029.2: g.4107_5396del1290insCGCATCCAGA indel Pathogenic GRCh37 Chromosome 17, 4805975: 4807264
39 AGRN 1p36.33 deletion (0.48 Mb) deletion Pathogenic
40 RAPSN NM_005055.4(RAPSN): c.-199C> G single nucleotide variant Pathogenic rs886037842 GRCh37 Chromosome 11, 47470715: 47470715
41 RAPSN NM_005055.4(RAPSN): c.-199C> G single nucleotide variant Pathogenic rs886037842 GRCh38 Chromosome 11, 47449163: 47449163
42 RYR1 NM_000540.2(RYR1): c.4115C> T (p.Ala1372Val) single nucleotide variant Uncertain significance rs370966353 GRCh38 Chromosome 19, 38473726: 38473726
43 RYR1 NM_000540.2(RYR1): c.4115C> T (p.Ala1372Val) single nucleotide variant Uncertain significance rs370966353 GRCh37 Chromosome 19, 38964366: 38964366
44 RYR1 NM_000540.2(RYR1): c.4236C> G (p.His1412Gln) single nucleotide variant Uncertain significance rs146206507 GRCh37 Chromosome 19, 38966033: 38966033
45 RYR1 NM_000540.2(RYR1): c.4236C> G (p.His1412Gln) single nucleotide variant Uncertain significance rs146206507 GRCh38 Chromosome 19, 38475393: 38475393
46 CHRNE NM_000080.3(CHRNE): c.1090dup (p.Arg364Profs) duplication Pathogenic rs1156634884 GRCh38 Chromosome 17, 4899327: 4899327
47 CHRNE NM_000080.3(CHRNE): c.1090dup (p.Arg364Profs) duplication Pathogenic rs1156634884 GRCh37 Chromosome 17, 4802622: 4802622
48 CHRND NM_001311196.1(CHRND): c.878A> C (p.Lys293Thr) single nucleotide variant Uncertain significance rs1553575390 GRCh38 Chromosome 2, 232534064: 232534064
49 CHRND NM_001311196.1(CHRND): c.878A> C (p.Lys293Thr) single nucleotide variant Uncertain significance rs1553575390 GRCh37 Chromosome 2, 233398774: 233398774
50 VAMP1 NM_014231.4(VAMP1): c.146G> C (p.Arg49Pro) single nucleotide variant Pathogenic rs754046104 GRCh38 Chromosome 12, 6465984: 6465984

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:

38
# 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:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.97 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
2 neuron projection GO:0043005 9.85 CHAT CHRNA1 CHRNB1 CHRND CHRNE VAMP1
3 postsynaptic membrane GO:0045211 9.8 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 MUSK
4 synapse GO:0045202 9.77 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
5 presynapse GO:0098793 9.71 CHAT SLC5A7 VAMP1
6 basement membrane GO:0005604 9.69 ACHE AGRN COLQ
7 acetylcholine-gated channel complex GO:0005892 9.62 CHRNA1 CHRNB1 CHRND CHRNE
8 integral component of postsynaptic specialization membrane GO:0099060 9.61 CHRNA1 CHRNB1 CHRND
9 synaptic cleft GO:0043083 9.52 ACHE COLQ
10 neuromuscular junction GO:0031594 9.32 ACHE CHRNA1 CHRNB1 CHRND CHRNE COLQ
11 membrane GO:0016020 10.33 ACHE AGRN ALG14 CHRNA1 CHRNB1 CHRND
12 integral component of membrane GO:0016021 10.3 AGRN ALG14 CHRNA1 CHRNB1 CHRND CHRNE
13 plasma membrane GO:0005886 10.29 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
14 integral component of plasma membrane GO:0005887 10.04 CHRNA1 CHRNB1 CHRND CHRNE MUSK SCN4A

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.91 CHRNA1 CHRNB1 CHRND CHRNE
2 chemical synaptic transmission GO:0007268 9.89 CHRNA1 CHRNB1 CHRND CHRNE RAPSN
3 regulation of membrane potential GO:0042391 9.83 CHRNA1 CHRNB1 CHRND CHRNE
4 muscle contraction GO:0006936 9.81 CHRNB1 CHRND CHRNE SCN4A
5 cation transport GO:0006812 9.77 CHRNA1 CHRNB1 CHRND
6 excitatory postsynaptic potential GO:0060079 9.73 CHRNA1 CHRNB1 CHRND CHRNE
7 nervous system process GO:0050877 9.67 CHRNA1 CHRNB1 CHRND CHRNE
8 skeletal muscle contraction GO:0003009 9.63 CHRNA1 CHRNB1 CHRND
9 neuromuscular process GO:0050905 9.62 CHRNA1 CHRND
10 regulation of postsynaptic membrane potential GO:0060078 9.62 CHRNA1 CHRNB1 CHRND CHRNE
11 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.61 ALG14 DPAGT1
12 neurotransmitter catabolic process GO:0042135 9.59 ACHE COLQ
13 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.58 COLQ MUSK
14 UDP-N-acetylglucosamine metabolic process GO:0006047 9.58 DPAGT1 GFPT1
15 neurotransmitter biosynthetic process GO:0042136 9.58 ACHE CHAT SLC5A7
16 musculoskeletal movement GO:0050881 9.56 CHRNA1 CHRND
17 response to nicotine GO:0035094 9.56 CHRNA1 CHRNB1 CHRND CHRNE
18 acetylcholine biosynthetic process GO:0008292 9.55 CHAT SLC5A7
19 skeletal muscle tissue growth GO:0048630 9.54 CHRNA1 CHRND
20 acetylcholine catabolic process in synaptic cleft GO:0001507 9.48 ACHE COLQ
21 neuromuscular synaptic transmission GO:0007274 9.43 CHAT CHRNA1 CHRNB1 CHRND CHRNE SLC5A7
22 regulation of synaptic growth at neuromuscular junction GO:0008582 9.33 AGRN COLQ MUSK
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 9.8 CHRNA1 CHRNB1 CHRND CHRNE SCN4A
2 extracellular ligand-gated ion channel activity GO:0005230 9.67 CHRNA1 CHRNB1 CHRND CHRNE
3 extracellular matrix structural constituent GO:0005201 9.63 AGRN COL13A1 COLQ
4 transmembrane signaling receptor activity GO:0004888 9.61 CHRNA1 CHRNB1 CHRND
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.56 CHRNA1 CHRNB1 CHRND CHRNE
6 laminin binding GO:0043236 9.48 ACHE AGRN
7 acetylcholine-gated cation-selective channel activity GO:0022848 9.46 CHRNA1 CHRNB1 CHRND CHRNE
8 ligand-gated ion channel activity GO:0015276 9.32 CHRNB1 CHRND
9 acetylcholine receptor activity GO:0015464 9.26 CHRNA1 CHRNB1 CHRND CHRNE
10 acetylcholine binding GO:0042166 9.02 ACHE CHRNA1 CHRNB1 CHRND CHRNE

Sources for Congenital Myasthenic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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