CMS5
MCID: MYS051
MIFTS: 57

Myasthenic Syndrome, Congenital, 5 (CMS5)

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 5

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 5:

Name: Myasthenic Syndrome, Congenital, 5 56 73
Endplate Acetylcholinesterase Deficiency 56 73 29 13 54 6 71
Engel Congenital Myasthenic Syndrome 56 12 73
Cms5 56 12 73
Ead 56 12 73
Myasthenic Syndrome, Congenital, Engel Type 56 73
Congenital Myasthenic Syndrome Type Ic 12 73
Congenital Myasthenic Syndrome 5 12 15
Cms Ic 12 73
Congenital Myasthenic Syndrome Type Ic, Formerly; Cms1c, Formerly 56
Congenital Myasthenic Syndrome Type Ic, Formerly 56
Endplate Acetylcholinesterase Deficiency; Ead 56
Congenital Myasthenic Syndrome Engel Type 12
End Plate Acetylcholinesterase Deficiency 12
End-Plate Acetylcholinesterase Deficiency 73
Synaptic Congenital Myasthenic Syndromes 58
Myasthenic Syndrome, Congenital, Type 5 39
Congenital Myasthenic Syndrome Type 1c 73
Cms Ic, Formerly 56
Cms1c, Formerly 56
Cms1c 73
Cmse 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in infancy
later childhood onset has been reported
phenotypic variation in severity and symptoms
no response or worsening with acetylcholinesterase inhibitors
symptoms progress with worsening myopathy


HPO:

31
myasthenic syndrome, congenital, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Myasthenic Syndrome, Congenital, 5

OMIM : 56 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (603034)

MalaCards based summary : Myasthenic Syndrome, Congenital, 5, also known as endplate acetylcholinesterase deficiency, is related to cardiac conduction defect and long qt syndrome 3, and has symptoms including ophthalmoparesis An important gene associated with Myasthenic Syndrome, Congenital, 5 is COLQ (Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. The drugs Ephedrine and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle, and related phenotypes are generalized muscle weakness and proximal muscle weakness

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has material basis in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25.

UniProtKB/Swiss-Prot : 73 Myasthenic syndrome, congenital, 5: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS5 inheritance is autosomal recessive.

Related Diseases for Myasthenic Syndrome, Congenital, 5

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 Myasthenic Syndrome, Congenital, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 cardiac conduction defect 30.8 SCN5A RYR2 KCNQ1 KCNH2
2 long qt syndrome 3 30.8 SCN5A RYR2 KCNQ1 KCNH2 KCNE1 CACNA1C
3 ventricular fibrillation, paroxysmal familial, 1 30.6 SCN5A RYR2 KCNQ1 KCNH2 KCNE1 CACNA1C
4 long qt syndrome 2 30.4 SCN5A RYR2 KCNQ1 KCNH2 KCNE1 KCND3
5 long qt syndrome 30.3 SCN5A RYR2 KCNQ1 KCNH2 KCNE1 KCND3
6 atrial fibrillation 30.1 SCN5A RYR2 KCNQ1 KCNH2 KCNE1 KCND3
7 congenital myasthenic syndrome 28.9 VASP TXNDC15 SLC30A6 SERPINA3 SCN5A RYR2
8 cholinergic urticaria 10.6 SERPINA3 ACHE
9 spinocerebellar ataxia type 19/22 10.6 KCNIP2 KCND3
10 familial short qt syndrome 10.5 KCNQ1 KCNH2
11 ventricular tachycardia, catecholaminergic polymorphic, 3 10.5 RYR2 CD2AP
12 neuromuscular junction disease 10.5 SERPINA3 COLQ ACHE
13 arrhythmogenic right ventricular dysplasia, familial, 12 10.5 RYR2 KCNH2 CD2AP
14 long qt syndrome 10 10.5 SCN5A KCNQ1 KCNH2
15 brugada syndrome 9 10.5 SCN5A KCND3
16 second-degree atrioventricular block 10.5 SCN5A GJA1
17 long qt syndrome 15 10.5 KCNE1 CD2AP
18 hypokalemic periodic paralysis, type 1 10.5 SCN5A KCNE1 CACNA1C
19 long qt syndrome 11 10.5 KCNQ1 KCNE1 CACNA1C
20 first-degree atrioventricular block 10.5 SCN5A GJA1
21 anhidrosis, isolated, with normal sweat glands 10.5 RYR2 CACNA1C
22 brugada syndrome 1 10.4 SCN5A RYR2 KCNH2 KCNA5
23 syncope 10.4 SCN5A RYR2 KCNQ1 KCNH2
24 long qt syndrome 13 10.4 SCN5A KCNQ1 KCNH2 KCNE1
25 long qt syndrome 12 10.4 SCN5A KCNQ1 KCNH2 KCNE1
26 brugada syndrome 4 10.4 SCN5A KCNQ1 KCNH2 CACNA1C
27 heart cancer 10.4 SERPINA3 CD2AP
28 right bundle branch block 10.4 SCN5A KCNH2 KCND3 CACNA1C
29 long qt syndrome 9 10.4 SCN5A KCNQ1 KCNE1 CACNA1C
30 leopard syndrome 10.4 KCNQ1 KCNH2 CD2AP CACNA1C
31 cardiac arrest 10.4 SCN5A RYR2 KCNQ1 KCNH2
32 malignant hyperthermia 10.4 SCN5A RYR2 CACNA1C
33 congestive heart failure 10.4 SCN5A RYR2 KCNQ1 CACNA1C
34 sudden infant death syndrome 10.4 SCN5A RYR2 KCNQ1 KCNH2
35 hereditary lymphedema ic 10.4 SCN5A GJA1
36 coronary artery anomaly 10.4 SCN5A RYR2 KCNH2 GJA1
37 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.4 SCN5A RYR2 KCNQ1 KCNH2 CD2AP
38 familial long qt syndrome 10.4 SCN5A KCNQ1 KCNH2 KCNE1 CACNA1C
39 long qt syndrome 6 10.4 SCN5A KCNQ1 KCNH2 KCNE1 CACNA1C
40 jervell and lange-nielsen syndrome 1 10.4 SCN5A KCNQ1 KCNH2 KCNE1 CACNA1C
41 intraocular pressure quantitative trait locus 10.4 SERPINA3 GJA1 ACHE
42 brugada syndrome 5 10.4 SCN5A KCND3
43 tetralogy of fallot 10.4 SCN5A RYR2 KCNH2 GJA1
44 neuromuscular disease 10.3 SERPINA3 SCN5A GJA1 COLQ ACHE
45 wolff-parkinson-white syndrome 10.3 SCN5A KCNQ1 KCNH2 KCNE1 GJA1
46 long qt syndrome 5 10.3 SCN5A RYR2 KCNQ1 KCNH2 KCNE1 CACNA1C
47 andersen cardiodysrhythmic periodic paralysis 10.3 SCN5A RYR2 KCNQ1 KCNH2 KCNE1 CACNA1C
48 cardiac arrhythmia 10.3 SCN5A RYR2 KCNQ1 KCNH2 KCNE1 CACNA1C
49 sinoatrial node disease 10.3 SCN5A RYR2 KCNQ1 KCNH2 GJA1 CACNA1C
50 ovarian endometrial cancer 10.3 SERPINA3 SCN5A

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 5:



Diseases related to Myasthenic Syndrome, Congenital, 5

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 5

Human phenotypes related to Myasthenic Syndrome, Congenital, 5:

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003324
2 proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003701
3 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0003403
4 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
5 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
6 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
9 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
10 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
11 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
12 ophthalmoparesis 58 31 frequent (33%) Frequent (79-30%) HP:0000597
13 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
14 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
15 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
16 weak cry 58 31 frequent (33%) Frequent (79-30%) HP:0001612
17 neck muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0000467
18 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
19 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
20 abnormal enzyme/coenzyme activity 58 31 frequent (33%) Frequent (79-30%) HP:0012379
21 unfavorable response of muscle weakness to acetylcholine esterase inhibitors 58 31 frequent (33%) Frequent (79-30%) HP:0030203
22 decreased size of nerve terminals 58 31 frequent (33%) Frequent (79-30%) HP:0003443
23 prolonged miniature endplate currents 58 31 frequent (33%) Frequent (79-30%) HP:0003436
24 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
25 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
26 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
27 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
28 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
29 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
30 easy fatigability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003388
31 type 1 muscle fiber predominance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003803
32 neonatal respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002643
33 abnormality of the knee 58 31 occasional (7.5%) Occasional (29-5%) HP:0002815
34 recurrent lower respiratory tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002783
35 impaired mastication 58 31 occasional (7.5%) Occasional (29-5%) HP:0005216
36 hypoventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002791
37 axial muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003327
38 slow pupillary light response 58 31 occasional (7.5%) Occasional (29-5%) HP:0030211
39 limited extraocular movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0007941
40 mandibular prognathia 58 31 very rare (1%) Very rare (<4-1%) HP:0000303
41 abnormal facial shape 58 31 very rare (1%) Very rare (<4-1%) HP:0001999
42 pulmonary arterial hypertension 58 31 very rare (1%) Very rare (<4-1%) HP:0002092
43 talipes equinovarus 58 31 very rare (1%) Very rare (<4-1%) HP:0001762
44 frequent falls 58 31 very rare (1%) Very rare (<4-1%) HP:0002359
45 exertional dyspnea 58 31 very rare (1%) Very rare (<4-1%) HP:0002875
46 hand muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0030237
47 type 2 muscle fiber atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0003554
48 right ventricular hypertrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0001667
49 limited wrist extension 58 31 very rare (1%) Very rare (<4-1%) HP:0006251
50 triangular mouth 58 31 very rare (1%) Very rare (<4-1%) HP:0000207

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
ptosis
ophthalmoparesis
slow, delayed pupillary light reflex

Abdomen Gastrointestinal:
dysphagia
poor feeding due to muscle weakness

Respiratory:
respiratory insufficiency due to muscle weakness

Muscle Soft Tissue:
muscle biopsy shows type 2 fiber atrophy
underdeveloped muscles
muscle biopsy shows endplate myopathy (see details under neurologic heading)

Neurologic Peripheral Nervous System:
dysarthria
easy fatigability
decreased size of nerve terminals
hypotonia
limb weakness
more
Skeletal Spine:
scoliosis
lordosis

Voice:
weak cry

Immunology:
absence of acetylcholine receptor (achr) autoantibodies

Clinical features from OMIM:

603034

UMLS symptoms related to Myasthenic Syndrome, Congenital, 5:


ophthalmoparesis

GenomeRNAi Phenotypes related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10 GJA1
2 Decreased viability GR00381-A-1 10 TXNDC15
3 Decreased viability GR00402-S-2 10 ACHE CACNA1C CD2AP COLQ GJA1 GLE1
4 no effect GR00402-S-1 9.62 ACHE CACNA1C CD2AP COLQ GJA1 GLE1

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 CACNA1C CD2AP GJA1 KCNA5 KCND3 KCNH2
2 muscle MP:0005369 9.23 ACHE CACNA1C GJA1 KCNA5 KCNH2 KCNQ1

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 5

Drugs for Myasthenic Syndrome, Congenital, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
2
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
3
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
4 Central Nervous System Stimulants Phase 1, Phase 2
5 Anti-Asthmatic Agents Phase 1, Phase 2
6 Nasal Decongestants Phase 1, Phase 2
7 Sympathomimetics Phase 1, Phase 2
8 Respiratory System Agents Phase 1, Phase 2
9 Neurotransmitter Agents Phase 1, Phase 2
10 Autonomic Agents Phase 1, Phase 2
11 Bronchodilator Agents Phase 1, Phase 2
12 Vasoconstrictor Agents Phase 1, Phase 2
13 Adrenergic Agents Phase 1, Phase 2
14 Immunosuppressive Agents Phase 2
15 Anti-Inflammatory Agents Phase 2
16 glucocorticoids Phase 2
17 Immunologic Factors Phase 2
18 Triamcinolone diacetate Phase 2
19 Hormone Antagonists Phase 2
20 triamcinolone acetonide Phase 2
21 Triamcinolone hexacetonide Phase 2
22 Hormones Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ephedrine for the Treatment of Congenital Myasthenia Unknown status NCT00541216 Phase 1, Phase 2 Ephedrine
2 Combined Posterior Sub-Tenon Injection of Triamcinolone Acetonide and Laser Photocoagulation for the Treatment of Clinically Significant Macular Edema Unknown status NCT00229918 Phase 2 triamcinolone acetonide

Search NIH Clinical Center for Myasthenic Syndrome, Congenital, 5

Genetic Tests for Myasthenic Syndrome, Congenital, 5

Genetic tests related to Myasthenic Syndrome, Congenital, 5:

# Genetic test Affiliating Genes
1 Endplate Acetylcholinesterase Deficiency 29

Anatomical Context for Myasthenic Syndrome, Congenital, 5

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 5:

40
Eye, Skeletal Muscle

Publications for Myasthenic Syndrome, Congenital, 5

Articles related to Myasthenic Syndrome, Congenital, 5:

(show all 24)
# Title Authors PMID Year
1
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. 6 61 54 56
9689136 1998
2
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. 6 56
11865139 2002
3
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). 56 6
9758617 1998
4
A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. 6 56
214017 1977
5
Congenital endplate acetylcholinesterase deficiency. 61 56 54
8390325 1993
6
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 56
25792100 2015
7
Congenital Myasthenic Syndromes 6
20301347 2003
8
Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? 6
10441569 1999
9
Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits. 56
7814634 1995
10
Deficiency of acetylcholine receptors in a case of end-plate acetylcholinesterase deficiency: a histochemical investigation. 56
1732764 1992
11
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. 61 54
18647752 2008
12
Viral vector-mediated [corrected] expression of human collagen Q in cultured cells. 54 61
18374322 2008
13
Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives. 61 54
17300939 2007
14
Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. 61 54
16009904 2005
15
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. 61 54
12609505 2003
16
Congenital myasthenic syndromes: recent advances. 54 61
10025421 1999
17
Treatment of congenital endplate acetylcholinesterase deficiency by neuromuscular blockade. 54 61
8807428 1996
18
Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome. 61
29150079 2018
19
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. 61
26327126 2015
20
[Anesthetic management of scoliosis surgery for a patient with congenital myasthenic syndrome]. 61
25199331 2014
21
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction. 61
23553736 2013
22
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol. 61
22759693 2012
23
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. 61
21952943 2011
24
[Molecular bases and therapeutic strategies in defective neuromuscular transmissions: lessons learned from a prototypical synapse]. 61
19764481 2009

Variations for Myasthenic Syndrome, Congenital, 5

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 5:

6 (show top 50) (show all 83) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COLQ COLQ, 215-BP DEL, NT107deletion Pathogenic 6648
2 COLQ NM_005677.4(COLQ):c.640G>T (p.Glu214Ter)SNV Pathogenic 6649 rs104893733 3:15512120-15512120 3:15470613-15470613
3 COLQ NM_005677.4(COLQ):c.506C>G (p.Ser169Ter)SNV Pathogenic 6650 rs104893734 3:15516954-15516954 3:15475447-15475447
4 COLQ NM_005677.4(COLQ):c.844A>T (p.Arg282Ter)SNV Pathogenic 6651 rs121908922 3:15499803-15499803 3:15458296-15458296
5 COLQ NM_005677.4(COLQ):c.1082del (p.Pro361fs)deletion Pathogenic 6652 rs769982050 3:15497519-15497519 3:15456012-15456012
6 COLQ NM_005677.4(COLQ):c.788dup (p.Pro265fs)duplication Pathogenic 6653 rs759911990 3:15507874-15507874 3:15466367-15466367
7 COLQ NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser)SNV Pathogenic 6654 rs121908923 3:15495345-15495345 3:15453838-15453838
8 COLQ NM_005677.4(COLQ):c.943C>T (p.Arg315Ter)SNV Pathogenic 6655 rs121908924 3:15499704-15499704 3:15458197-15458197
9 COLQ NM_005677.4(COLQ):c.1298+3A>GSNV Pathogenic 6656 3:15495333-15495333 3:15453826-15453826
10 COLQ NM_005677.4(COLQ):c.718G>T (p.Gly240Ter)SNV Pathogenic 6657 rs104893735 3:15507944-15507944 3:15466437-15466437
11 COLQ NM_005677.4(COLQ):c.679C>T (p.Arg227Ter)SNV Pathogenic 280125 rs770045897 3:15512081-15512081 3:15470574-15470574
12 COLQ NM_005677.4(COLQ):c.157dup (p.Leu53fs)duplication Pathogenic 468343 rs971863968 3:15531094-15531094 3:15489587-15489587
13 COLQ NM_005677.4(COLQ):c.1225dup (p.His409fs)duplication Pathogenic 568622 rs1559510978 3:15495409-15495409 3:15453902-15453902
14 COLQ NM_005677.4(COLQ):c.52_53CT[1] (p.Ile20fs)short repeat Pathogenic 569887 rs771879602 3:15563076-15563079 3:15521569-15521572
15 COLQ NM_005677.4(COLQ):c.57dup (p.Ile20fs)duplication Pathogenic 571382 rs777102590 3:15563076-15563076 3:15521569-15521569
16 COLQ NM_005677.4(COLQ):c.588del (p.Gly198fs)deletion Pathogenic 599286 rs1559519107 3:15515747-15515747 3:15474240-15474240
17 COLQ NM_005677.4(COLQ):c.220-1G>ASNV Pathogenic 599284 rs199470447 3:15529815-15529815 3:15488308-15488308
18 COLQ NM_005677.4(COLQ):c.1217G>C (p.Gly406Ala)SNV Likely pathogenic 599285 rs1306593300 3:15495417-15495417 3:15453910-15453910
19 COLQ NM_005677.4(COLQ):c.1281C>T (p.Cys427=)SNV Likely pathogenic 536241 rs185829251 3:15495353-15495353 3:15453846-15453846
20 COLQ NM_005677.4(COLQ):c.1298G>A (p.Gly433Glu)SNV Likely pathogenic 635761 3:15495336-15495336 3:15453829-15453829
21 COLQ NM_005677.4(COLQ):c.107-1G>ASNV Likely pathogenic 655672 3:15531145-15531145 3:15489638-15489638
22 COLQ NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)SNV Likely pathogenic 381725 rs139574075 3:15495406-15495406 3:15453899-15453899
23 COLQ NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)SNV Likely pathogenic 447217 rs375215281 3:15493198-15493198 3:15451691-15451691
24 COLQ NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser)SNV Conflicting interpretations of pathogenicity 343846 rs116828761 3:15497520-15497520 3:15456013-15456013
25 COLQ NM_005677.4(COLQ):c.912C>T (p.Tyr304=)SNV Conflicting interpretations of pathogenicity 343848 rs886058099 3:15499735-15499735 3:15458228-15458228
26 COLQ NM_005677.4(COLQ):c.561C>T (p.Ser187=)SNV Conflicting interpretations of pathogenicity 343851 rs149370622 3:15515774-15515774 3:15474267-15474267
27 COLQ NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)SNV Conflicting interpretations of pathogenicity 631910 rs143766249 3:15520498-15520498 3:15478991-15478991
28 COLQ NM_005677.4(COLQ):c.954+1G>ASNV Uncertain significance 632407 rs757060689 3:15499692-15499692 3:15458185-15458185
29 COLQ NM_005677.4(COLQ):c.717+4A>CSNV Uncertain significance 660621 3:15512039-15512039 3:15470532-15470532
30 COLQ NM_005677.4(COLQ):c.529-10T>ASNV Uncertain significance 642161 3:15516468-15516468 3:15474961-15474961
31 COLQ NM_005677.4(COLQ):c.1355G>A (p.Arg452His)SNV Uncertain significance 651618 3:15493164-15493164 3:15451657-15451657
32 COLQ NM_005677.4(COLQ):c.1339G>A (p.Asp447Asn)SNV Uncertain significance 652725 3:15493180-15493180 3:15451673-15451673
33 COLQ NM_005677.4(COLQ):c.1195C>T (p.Arg399Cys)SNV Uncertain significance 658946 3:15497406-15497406 3:15455899-15455899
34 COLQ NM_005677.4(COLQ):c.1018C>T (p.Arg340Cys)SNV Uncertain significance 664848 3:15498023-15498023 3:15456516-15456516
35 COLQ NM_005677.4(COLQ):c.784C>T (p.Arg262Cys)SNV Uncertain significance 653851 3:15507878-15507878 3:15466371-15466371
36 COLQ NM_005677.4(COLQ):c.769T>G (p.Ser257Ala)SNV Uncertain significance 645303 3:15507893-15507893 3:15466386-15466386
37 COLQ NM_005677.4(COLQ):c.680G>A (p.Arg227Gln)SNV Uncertain significance 657237 3:15512080-15512080 3:15470573-15470573
38 COLQ NM_005677.4(COLQ):c.584G>A (p.Gly195Asp)SNV Uncertain significance 644732 3:15515751-15515751 3:15474244-15474244
39 COLQ NM_005677.4(COLQ):c.406C>T (p.Pro136Ser)SNV Uncertain significance 650641 3:15518692-15518692 3:15477185-15477185
40 COLQ NM_005677.4(COLQ):c.290C>T (p.Ser97Leu)SNV Uncertain significance 661804 3:15529744-15529744 3:15488237-15488237
41 COLQ NM_005677.4(COLQ):c.247A>T (p.Met83Leu)SNV Uncertain significance 646994 3:15529787-15529787 3:15488280-15488280
42 COLQ NM_005677.4(COLQ):c.151T>C (p.Cys51Arg)SNV Uncertain significance 651890 3:15531100-15531100 3:15489593-15489593
43 COLQ NM_005677.4(COLQ):c.116G>T (p.Ser39Ile)SNV Uncertain significance 661631 3:15531135-15531135 3:15489628-15489628
44 COLQ NM_005677.4(COLQ):c.61G>A (p.Val21Met)SNV Uncertain significance 648323 3:15563072-15563072 3:15521565-15521565
45 COLQ NM_005677.4(COLQ):c.393+3A>GSNV Uncertain significance 573561 rs1248479113 3:15520481-15520481 3:15478974-15478974
46 COLQ NM_005677.4(COLQ):c.1366T>C (p.Ter456Arg)SNV Uncertain significance 632406 rs188841362 3:15493153-15493153 3:15451646-15451646
47 COLQ NM_005677.4(COLQ):c.1195C>G (p.Arg399Gly)SNV Uncertain significance 536243 rs779594053 3:15497406-15497406 3:15455899-15455899
48 COLQ NM_005677.4(COLQ):c.1019G>A (p.Arg340His)SNV Uncertain significance 536239 rs375225755 3:15498022-15498022 3:15456515-15456515
49 COLQ NM_005677.4(COLQ):c.1074+4C>TSNV Uncertain significance 536245 rs201227079 3:15497963-15497963 3:15456456-15456456
50 COLQ NM_005677.4(COLQ):c.164C>T (p.Thr55Met)SNV Uncertain significance 536240 rs774271810 3:15531087-15531087 3:15489580-15489580

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 5:

73
# Symbol AA change Variation ID SNP ID
1 COLQ p.Pro59Gln VAR_010133
2 COLQ p.Asp342Glu VAR_010134 rs758554049
3 COLQ p.Arg410Gln VAR_010135 rs102536162
4 COLQ p.Tyr430Ser VAR_010136 rs121908923
5 COLQ p.Cys444Tyr VAR_010137
6 COLQ p.Ile337Thr VAR_071710 rs105752115

Expression for Myasthenic Syndrome, Congenital, 5

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 5.

Pathways for Myasthenic Syndrome, Congenital, 5

Pathways related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 SCN5A RYR2 KCNQ1 KCNIP2 KCNH2 KCNE1
2
Show member pathways
12.23 VASP SCN5A RYR2 KCNQ1 KCNE1 CACNA1C
3 11.99 KCNQ1 KCNH2 KCNE1 KCND3 KCNA5 CACNA1C
4 11.93 SCN5A RYR2 KCNQ1 KCNH2 GJA1
5
Show member pathways
11.9 KCNQ1 KCNH2 KCND3 KCNA5
6
Show member pathways
11.54 SCN5A KCNQ1 KCNE1 CACNA1C
7 11.07 SCN5A RYR2 KCNQ1 KCNIP2 KCNH2 KCNE1
8 10.86 KCNQ1 KCNE1 GJA1
9 10.54 CACNA1C ACHE

GO Terms for Myasthenic Syndrome, Congenital, 5

Cellular components related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.39 VASP TXNDC15 SLC30A6 SCN5A RYR2 KCNQ1
2 plasma membrane GO:0005886 10.17 VASP SCN5A RYR2 KCNQ1 KCNIP2 KCNH2
3 cell junction GO:0030054 9.95 VASP GJA1 COLQ CD2AP CACNA1C ACHE
4 cell surface GO:0009986 9.92 SCN5A KCNH2 KCNE1 KCNA5 ACHE
5 membrane raft GO:0045121 9.76 KCNQ1 KCNE1 KCNA5 GJA1
6 basement membrane GO:0005604 9.67 LAMB2 COLQ ACHE
7 neuromuscular junction GO:0031594 9.61 LAMB2 COLQ ACHE
8 sarcolemma GO:0042383 9.56 SCN5A RYR2 KCND3 CACNA1C
9 intercalated disc GO:0014704 9.54 SCN5A KCNA5 GJA1
10 potassium channel complex GO:0034705 9.4 KCNIP2 KCNA5
11 Z disc GO:0030018 9.35 SCN5A RYR2 KCNE1 KCNA5 CACNA1C
12 synaptic cleft GO:0043083 9.33 LAMB2 COLQ ACHE
13 voltage-gated potassium channel complex GO:0008076 9.1 KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3 KCNA5

Biological processes related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.15 SLC30A6 SCN5A RYR2 KCNQ1 KCNH2 KCND3
2 ion transport GO:0006811 10.13 SLC30A6 SCN5A RYR2 KCNQ1 KCNIP2 KCNH2
3 potassium ion transport GO:0006813 10 KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3 KCNA5
4 potassium ion transmembrane transport GO:0071805 9.99 KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3 KCNA5
5 regulation of ion transmembrane transport GO:0034765 9.97 SCN5A KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3
6 cardiac muscle contraction GO:0060048 9.87 SCN5A RYR2 KCNQ1 KCNH2
7 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.84 SCN5A KCNQ1 KCNH2 KCNE1
8 ventricular cardiac muscle cell action potential GO:0086005 9.8 SCN5A RYR2 KCNQ1 KCNH2 KCNE1
9 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.78 KCNQ1 KCNH2 KCNE1 KCND3
10 regulation of potassium ion transmembrane transport GO:1901379 9.77 KCNIP2 KCNH2 KCNE1
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.77 SCN5A KCNE1 CACNA1C
12 positive regulation of potassium ion transmembrane transport GO:1901381 9.76 KCNQ1 KCNH2 KCNE1
13 atrial cardiac muscle cell action potential GO:0086014 9.76 SCN5A KCNQ1 KCNA5 GJA1
14 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.75 RYR2 GJA1 CACNA1C
15 membrane repolarization during action potential GO:0086011 9.73 KCNQ1 KCNH2 KCNE1
16 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.72 SCN5A KCNQ1 KCNA5
17 membrane repolarization GO:0086009 9.72 KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3
18 cardiac conduction GO:0061337 9.7 SCN5A KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3
19 potassium ion homeostasis GO:0055075 9.66 KCNH2 KCNA5
20 membrane depolarization during action potential GO:0086010 9.66 SCN5A KCNH2
21 calcium ion transport into cytosol GO:0060402 9.65 RYR2 CACNA1C
22 cellular response to epinephrine stimulus GO:0071872 9.65 RYR2 KCNQ1
23 detection of calcium ion GO:0005513 9.65 RYR2 KCNIP2
24 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.65 KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3
25 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.64 SCN5A CACNA1C
26 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.64 RYR2 CACNA1C
27 regulation of membrane repolarization GO:0060306 9.63 KCNQ1 KCNH2
28 neurotransmitter catabolic process GO:0042135 9.63 COLQ ACHE
29 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.62 KCNQ1 KCNA5
30 membrane depolarization during AV node cell action potential GO:0086045 9.62 SCN5A CACNA1C
31 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.61 SCN5A CACNA1C
32 acetylcholine catabolic process in synaptic cleft GO:0001507 9.61 COLQ ACHE
33 regulation of heart rate by cardiac conduction GO:0086091 9.5 SCN5A KCNQ1 KCNH2 KCNE1 KCND3 KCNA5
34 potassium ion export across plasma membrane GO:0097623 9.1 KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3 KCNA5

Molecular functions related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.48 VASP SERPINA3 SCN5A RYR2 POLR2G KCNQ1
2 ion channel activity GO:0005216 9.83 SCN5A RYR2 KCNH2 KCNA5 CACNA1C
3 calmodulin binding GO:0005516 9.81 SCN5A RYR2 KCNQ1 CACNA1C
4 ion channel binding GO:0044325 9.8 SCN5A RYR2 KCNQ1 KCNIP2 KCNE1 KCND3
5 voltage-gated potassium channel activity GO:0005249 9.77 KCNQ1 KCNH2 KCNE1 KCND3 KCNA5
6 scaffold protein binding GO:0097110 9.76 SCN5A KCNQ1 KCNH2 KCNA5
7 voltage-gated ion channel activity GO:0005244 9.73 SCN5A KCNQ1 KCNH2 KCND3 KCNA5 CACNA1C
8 delayed rectifier potassium channel activity GO:0005251 9.71 KCNQ1 KCNH2 KCNE1 KCNA5
9 protein kinase A regulatory subunit binding GO:0034237 9.57 RYR2 KCNQ1
10 alpha-actinin binding GO:0051393 9.56 KCNA5 CACNA1C
11 protein kinase A catalytic subunit binding GO:0034236 9.54 RYR2 KCNQ1
12 outward rectifier potassium channel activity GO:0015271 9.52 KCNQ1 KCNA5
13 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.49 KCNQ1 KCNA5
14 A-type (transient outward) potassium channel activity GO:0005250 9.48 KCNIP2 KCND3
15 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNQ1 KCNH2 KCNE1 KCND3
16 potassium channel activity GO:0005267 9.43 KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3 KCNA5
17 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.02 KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3

Sources for Myasthenic Syndrome, Congenital, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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