CMS5
MCID: MYS051
MIFTS: 53

Myasthenic Syndrome, Congenital, 5 (CMS5)

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 5

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 5:

Name: Myasthenic Syndrome, Congenital, 5 57 73
Endplate Acetylcholinesterase Deficiency 57 73 29 13 54 6 71
Engel Congenital Myasthenic Syndrome 57 12 73
Cms5 57 12 73
Ead 57 12 73
Myasthenic Syndrome, Congenital, Engel Type 57 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 57
Congenital Myasthenic Syndrome Type Ic, Formerly 57
Endplate Acetylcholinesterase Deficiency; Ead 57
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 57
Cms1c, Formerly 57
Cms1c 73
Cmse 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® : 57 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) (Updated 05-Mar-2021)

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 Transmission across Chemical Synapses and Cardiac conduction. 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 87)
# Related Disease Score Top Affiliating Genes
1 cardiac conduction defect 30.3 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
2 long qt syndrome 3 30.0 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
3 hypertrophic cardiomyopathy 29.9 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
4 long qt syndrome 2 29.5 SCN5A RYR2 KCNQ1 KCNIP2 KCNH2 KCNE2
5 congenital myasthenic syndrome 29.2 VASP SLC30A6 SERPINA3 SCN5A RYR2 POLR2G
6 cholinergic urticaria 10.4 SERPINA3 ACHE
7 familial short qt syndrome 10.4 KCNQ1 KCNH2
8 first-degree atrioventricular block 10.4 SCN5A KCNH2
9 hereditary lymphedema ic 10.4 SCN5A GJA1
10 spinocerebellar ataxia type 19/22 10.4 KCNIP2 KCND3
11 idiopathic ventricular fibrillation, non brugada type 10.4 SCN5A RYR2 CACNA1C
12 developmental and epileptic encephalopathy 14 10.4 SCN5A KCNQ1 KCNH2
13 long qt syndrome 15 10.4 KCNE1 CACNA1C
14 brugada syndrome 3 10.4 KCNE2 CACNA1C
15 anhidrosis, isolated, with normal sweat glands 10.4 RYR2 CACNA1C
16 arrhythmogenic right ventricular dysplasia, familial, 12 10.3 RYR2 KCNH2
17 hypokalemic periodic paralysis, type 1 10.3 SCN5A KCNE1 CACNA1C
18 deafness, autosomal recessive 98 10.3 KCNQ1 KCNE2 KCNE1
19 long qt syndrome 14 10.3 SCN5A KCNQ1 KCNH2 CACNA1C
20 syncope 10.3 SCN5A RYR2 KCNQ1 KCNH2
21 ovarian endometrial cancer 10.3 SERPINA3 SCN5A
22 brugada syndrome 4 10.3 SCN5A KCNQ1 KCNH2 CACNA1C
23 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.3 SCN5A RYR2 KCNQ1 KCNH2
24 cardiomyopathy, dilated, 1o 10.3 KCNA5 GJA1
25 left bundle branch hemiblock 10.3 SCN5A RYR2
26 noonan syndrome with multiple lentigines 10.3 SCN5A RYR2 KCNQ1 KCNH2
27 right bundle branch block 10.3 SCN5A KCNH2 KCND3 CACNA1C
28 cardiac arrest 10.3 SCN5A RYR2 KCNQ1 KCNH2
29 long qt syndrome 10 10.3 SCN5A KCNQ1 KCNE2 KCNE1
30 malignant hyperthermia 10.3 SCN5A RYR2 KCNH2 CACNA1C
31 long qt syndrome 11 10.3 KCNQ1 KCNE2 KCNE1 CACNA1C
32 isolated elevated serum creatine phosphokinase levels 10.3 SCN5A RYR2 KCNA5 CACNA1C
33 rasopathy 10.3 SCN5A RYR2 KCNQ1 KCNH2
34 intraocular pressure quantitative trait locus 10.3 SERPINA3 GJA1 ACHE
35 congestive heart failure 10.3 SCN5A RYR2 KCNQ1 CACNA1C
36 cardiomyopathy, familial hypertrophic, 1 10.3 SCN5A RYR2 KCNH2 CACNA1C
37 brugada syndrome 5 10.3 SCN5A KCND3
38 chromosome 2q35 duplication syndrome 10.3 KCNQ1 KCNH2 GJA1 CACNA1C
39 progressive familial heart block 10.3 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
40 brugada syndrome 1 10.2 SCN5A RYR2 KCNH2 KCND3 KCNA5
41 early infantile epileptic encephalopathy 10.2 SCN5A KCNQ1 KCNH2 CACNA1C
42 thiamine deficiency disease 10.2 SERPINA3 ACHE
43 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2 SERPINA3 SCN5A KCNQ1 KCNH2 CACNA1C
44 long qt syndrome 12 10.2 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
45 long qt syndrome 13 10.2 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
46 familial long qt syndrome 10.2 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
47 tetralogy of fallot 10.2 SCN5A RYR2 KCNH2 GJA1
48 cardiac arrhythmia 10.2 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 CACNA1C
49 third-degree atrioventricular block 10.2 SCN5A KCNH2
50 long qt syndrome 5 10.2 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CACNA1C

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 64)
# 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 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
5 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
8 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
9 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
10 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
11 ophthalmoparesis 58 31 frequent (33%) Frequent (79-30%) HP:0000597
12 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
13 weak cry 58 31 frequent (33%) Frequent (79-30%) HP:0001612
14 abnormal enzyme/coenzyme activity 58 31 frequent (33%) Frequent (79-30%) HP:0012379
15 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
16 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
17 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
18 neck muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0000467
19 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
20 decreased size of nerve terminals 58 31 frequent (33%) Frequent (79-30%) HP:0003443
21 prolonged miniature endplate currents 58 31 frequent (33%) Frequent (79-30%) HP:0003436
22 unfavorable response of muscle weakness to acetylcholine esterase inhibitors 58 31 frequent (33%) Frequent (79-30%) HP:0030203
23 hypotonia 31 frequent (33%) HP:0001252
24 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
25 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
26 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
27 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
28 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
29 easy fatigability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003388
30 type 1 muscle fiber predominance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003803
31 neonatal respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002643
32 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
33 impaired mastication 58 31 occasional (7.5%) Occasional (29-5%) HP:0005216
34 abnormality of the knee 58 31 occasional (7.5%) Occasional (29-5%) HP:0002815
35 axial muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003327
36 recurrent lower respiratory tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002783
37 hypoventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002791
38 limited extraocular movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0007941
39 slow pupillary light response 58 31 occasional (7.5%) Occasional (29-5%) HP:0030211
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 talipes equinovarus 58 31 very rare (1%) Very rare (<4-1%) HP:0001762
43 pulmonary arterial hypertension 58 31 very rare (1%) Very rare (<4-1%) HP:0002092
44 exertional dyspnea 58 31 very rare (1%) Very rare (<4-1%) HP:0002875
45 frequent falls 58 31 very rare (1%) Very rare (<4-1%) HP:0002359
46 triangular mouth 58 31 very rare (1%) Very rare (<4-1%) HP:0000207
47 hand muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0030237
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 type 2 muscle fiber atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0003554

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
lordosis

Neurologic Peripheral Nervous System:
dysarthria
easy fatigability
decreased size of nerve terminals
hypotonia
limb weakness
more
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)

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

Abdomen Gastrointestinal:
dysphagia
poor feeding due to muscle weakness

Voice:
weak cry

Immunology:
absence of acetylcholine receptor (achr) autoantibodies

Clinical features from OMIM®:

603034 (Updated 05-Mar-2021)

UMLS symptoms related to Myasthenic Syndrome, Congenital, 5:


ophthalmoparesis

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ACHE CACNA1C GJA1 KCNA5 KCND3 KCNH2
2 muscle MP:0005369 9.23 ACHE CACNA1C GJA1 KCNA5 KCNH2 KCNQ1

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 5

Search Clinical Trials , 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 COLQ

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 23)
# Title Authors PMID Year
1
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. 6 57 61 54
9689136 1998
2
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. 6 57
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). 57 6
9758617 1998
4
A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. 6 57
214017 1977
5
Congenital endplate acetylcholinesterase deficiency. 61 57 54
8390325 1993
6
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 57
25792100 2015
7
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
8
Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits. 57
7814634 1995
9
Deficiency of acetylcholine receptors in a case of end-plate acetylcholinesterase deficiency: a histochemical investigation. 57
1732764 1992
10
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. 54 61
18647752 2008
11
Viral vector-mediated [corrected] expression of human collagen Q in cultured cells. 61 54
18374322 2008
12
Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives. 54 61
17300939 2007
13
Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. 54 61
16009904 2005
14
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. 54 61
12609505 2003
15
Congenital myasthenic syndromes: recent advances. 61 54
10025421 1999
16
Treatment of congenital endplate acetylcholinesterase deficiency by neuromuscular blockade. 54 61
8807428 1996
17
Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome. 61
29150079 2018
18
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. 61
26327126 2015
19
[Anesthetic management of scoliosis surgery for a patient with congenital myasthenic syndrome]. 61
25199331 2014
20
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction. 61
23553736 2013
21
Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol. 61
22759693 2012
22
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. 61
21952943 2011
23
[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 178)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COLQ COLQ, 215-BP DEL, NT107 Deletion 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.788dup (p.Pro265fs) Duplication Pathogenic 6653 rs759911990 3:15507873-15507874 3:15466366-15466367
6 COLQ NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser) SNV Pathogenic 6654 rs121908923 3:15495345-15495345 3:15453838-15453838
7 COLQ NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) SNV Pathogenic 6655 rs121908924 3:15499704-15499704 3:15458197-15458197
8 COLQ NM_005677.4(COLQ):c.1298+3A>G SNV Pathogenic 6656 rs1384843815 3:15495333-15495333 3:15453826-15453826
9 COLQ NM_005677.4(COLQ):c.718G>T (p.Gly240Ter) SNV Pathogenic 6657 rs104893735 3:15507944-15507944 3:15466437-15466437
10 COLQ NM_005677.4(COLQ):c.157dup (p.Leu53fs) Duplication Pathogenic 468343 rs971863968 3:15531093-15531094 3:15489586-15489587
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.1225dup (p.His409fs) Duplication Pathogenic 568622 rs1559510978 3:15495408-15495409 3:15453901-15453902
13 COLQ NM_005677.4(COLQ):c.52_53CT[1] (p.Ile20fs) Microsatellite Pathogenic 569887 rs771879602 3:15563076-15563079 3:15521569-15521572
14 COLQ NM_005677.4(COLQ):c.57dup (p.Ile20fs) Duplication Pathogenic 571382 rs777102590 3:15563075-15563076 3:15521568-15521569
15 COLQ NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp) SNV Pathogenic 381725 rs139574075 3:15495406-15495406 3:15453899-15453899
16 COLQ NM_005677.4(COLQ):c.220-1G>A SNV Pathogenic 599284 rs199470447 3:15529815-15529815 3:15488308-15488308
17 COLQ NM_005677.4(COLQ):c.588del (p.Gly198fs) Deletion Pathogenic 599286 rs1559519107 3:15515747-15515747 3:15474240-15474240
18 COLQ NC_000003.12:g.(?_15455889)_(15456589_?)del Deletion Pathogenic 831058 3:15497396-15498096
19 COLQ NM_005677.4(COLQ):c.219+1G>C SNV Pathogenic 801940 rs149020371 3:15531031-15531031 3:15489524-15489524
20 COLQ NM_005677.4(COLQ):c.1229G>A (p.Arg410Gln) SNV Pathogenic 938138 3:15495405-15495405 3:15453898-15453898
21 COLQ NM_005677.4(COLQ):c.769dup (p.Ser257fs) Duplication Pathogenic 965255 3:15507892-15507893 3:15466385-15466386
22 COLQ NM_005677.4(COLQ):c.1281C>A (p.Cys427Ter) SNV Pathogenic 962241 3:15495353-15495353 3:15453846-15453846
23 COLQ NM_005677.4(COLQ):c.1195+1G>A SNV Pathogenic 976238 3:15497405-15497405 3:15455898-15455898
24 COLQ NM_005677.4(COLQ):c.1212del (p.Cys405fs) Deletion Pathogenic 977752 3:15495422-15495422 3:15453915-15453915
25 COLQ NM_005677.4(COLQ):c.1277C>T (p.Thr426Ile) SNV Pathogenic 992471 3:15495357-15495357 3:15453850-15453850
26 COLQ NM_005677.4(COLQ):c.1196G>A (p.Arg399His) SNV Pathogenic 992472 3:15495438-15495438 3:15453931-15453931
27 COLQ NM_005677.4(COLQ):c.1082del (p.Pro361fs) Deletion Pathogenic 6652 rs769982050 3:15497519-15497519 3:15456012-15456012
28 COLQ NM_005677.4(COLQ):c.718-1276C>T SNV Likely pathogenic 977753 3:15509220-15509220 3:15467713-15467713
29 COLQ NM_005677.4(COLQ):c.444G>A (p.Trp148Ter) SNV Likely pathogenic 813939 rs1369980189 3:15518654-15518654 3:15477147-15477147
30 COLQ NM_005677.4(COLQ):c.107-1G>A SNV Likely pathogenic 655672 rs1269227357 3:15531145-15531145 3:15489638-15489638
31 COLQ NM_005677.4(COLQ):c.1217G>C (p.Gly406Ala) SNV Likely pathogenic 599285 rs1306593300 3:15495417-15495417 3:15453910-15453910
32 COLQ NM_005677.4(COLQ):c.1298G>A (p.Gly433Glu) SNV Likely pathogenic 635761 rs1575460231 3:15495336-15495336 3:15453829-15453829
33 COLQ NM_005677.4(COLQ):c.1281C>T (p.Cys427=) SNV Likely pathogenic 536241 rs185829251 3:15495353-15495353 3:15453846-15453846
34 COLQ NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) SNV Likely pathogenic 447217 rs375215281 3:15493198-15493198 3:15451691-15451691
35 COLQ NM_005677.4(COLQ):c.912C>T (p.Tyr304=) SNV Conflicting interpretations of pathogenicity 343848 rs886058099 3:15499735-15499735 3:15458228-15458228
36 COLQ NM_005677.4(COLQ):c.561C>T (p.Ser187=) SNV Conflicting interpretations of pathogenicity 343851 rs149370622 3:15515774-15515774 3:15474267-15474267
37 COLQ NM_005677.4(COLQ):c.23C>G (p.Thr8Ser) SNV Conflicting interpretations of pathogenicity 281936 rs189427175 3:15563110-15563110 3:15521603-15521603
38 COLQ NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) SNV Conflicting interpretations of pathogenicity 631910 rs143766249 3:15520498-15520498 3:15478991-15478991
39 COLQ NM_005677.4(COLQ):c.106+6T>C SNV Conflicting interpretations of pathogenicity 287047 rs201376373 3:15563021-15563021 3:15521514-15521514
40 COLQ NM_005677.4(COLQ):c.*736A>G SNV Uncertain significance 899950 3:15492415-15492415 3:15450908-15450908
41 COLQ NM_005677.4(COLQ):c.*715G>A SNV Uncertain significance 899951 3:15492436-15492436 3:15450929-15450929
42 COLQ NM_005677.4(COLQ):c.814+11C>T SNV Uncertain significance 900026 3:15507837-15507837 3:15466330-15466330
43 COLQ NM_005677.4(COLQ):c.718-9C>T SNV Uncertain significance 900027 3:15507953-15507953 3:15466446-15466446
44 COLQ NM_005677.4(COLQ):c.*446A>C SNV Uncertain significance 901122 3:15492705-15492705 3:15451198-15451198
45 COLQ NM_005677.4(COLQ):c.*426G>A SNV Uncertain significance 901123 3:15492725-15492725 3:15451218-15451218
46 COLQ NM_005677.4(COLQ):c.*407C>T SNV Uncertain significance 901124 3:15492744-15492744 3:15451237-15451237
47 COLQ NM_005677.4(COLQ):c.607C>T (p.Pro203Ser) SNV Uncertain significance 901184 3:15515536-15515536 3:15474029-15474029
48 COLQ NM_005677.4(COLQ):c.654A>G (p.Lys218=) SNV Uncertain significance 946703 3:15512106-15512106 3:15470599-15470599
49 COLQ NM_005677.4(COLQ):c.1129del (p.Asp377fs) Deletion Uncertain significance 947106 3:15497472-15497472 3:15455965-15455965
50 COLQ NM_005677.4(COLQ):c.154T>C (p.Cys52Arg) SNV Uncertain significance 947215 3:15531097-15531097 3:15489590-15489590

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
12.79 KCNQ1 KCNH2 KCND3 KCND2 KCNA5 ACHE
2
Show member pathways
12.38 SCN5A RYR2 KCNQ1 KCNIP2 KCNH2 KCNE2
3
Show member pathways
12.35 VASP SCN5A RYR2 KCNQ1 KCNE1 CACNA1C
4 12.12 KCNQ1 KCNH2 KCNE2 KCNE1 KCND3 KCND2
5 12.01 SCN5A RYR2 KCNQ1 KCNH2 GJA1
6
Show member pathways
11.89 KCNQ1 KCNH2 KCND3 KCND2 KCNA5
7
Show member pathways
11.53 SCN5A KCNQ1 KCNE2 KCNE1 CACNA1C
8 11.11 SCN5A RYR2 KCNQ1 KCNIP2 KCNH2 KCNE2
9 10.89 KCNQ1 KCNE1 GJA1
10 10.56 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 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.42 VASP SLC30A6 SCN5A RYR2 KCNQ1 KCNIP2
2 integral component of membrane GO:0016021 10.31 SLC30A6 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
3 plasma membrane GO:0005886 10.03 VASP SCN5A RYR2 KCNQ1 KCNIP2 KCNH2
4 cell junction GO:0030054 10 VASP KCND2 GJA1 COLQ CACNA1C ACHE
5 synapse GO:0045202 9.91 LAMB2 KCNIP2 KCND2 COLQ CACNA1C ACHE
6 cell surface GO:0009986 9.85 SCN5A KCNH2 KCNE2 KCNE1 KCNA5 ACHE
7 membrane raft GO:0045121 9.81 KCNQ1 KCNE1 KCNA5 GJA1
8 basement membrane GO:0005604 9.71 LAMB2 COLQ ACHE
9 neuromuscular junction GO:0031594 9.65 LAMB2 COLQ ACHE
10 sarcolemma GO:0042383 9.62 SCN5A RYR2 KCND3 CACNA1C
11 intercalated disc GO:0014704 9.58 SCN5A KCNA5 GJA1
12 potassium channel complex GO:0034705 9.46 KCNIP2 KCNA5
13 synaptic cleft GO:0043083 9.43 LAMB2 COLQ ACHE
14 Z disc GO:0030018 9.35 SCN5A RYR2 KCNE1 KCNA5 CACNA1C
15 voltage-gated potassium channel complex GO:0008076 9.23 KCNQ1 KCNIP2 KCNH2 KCNE2 KCNE1 KCND3

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.22 SLC30A6 SCN5A RYR2 KCNQ1 KCNH2 KCND3
2 ion transport GO:0006811 10.18 SLC30A6 SCN5A RYR2 KCNQ1 KCNIP2 KCNH2
3 potassium ion transport GO:0006813 10.06 KCNQ1 KCNIP2 KCNH2 KCNE2 KCNE1 KCND3
4 ion transmembrane transport GO:0034220 10.03 SCN5A RYR2 KCNH2 KCND2 GJA1
5 potassium ion transmembrane transport GO:0071805 10.03 KCNQ1 KCNIP2 KCNH2 KCNE2 KCNE1 KCND3
6 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.91 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
7 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.89 KCNQ1 KCNH2 KCNE2 KCNE1 KCND3
8 cardiac muscle contraction GO:0060048 9.88 SCN5A RYR2 KCNQ1 KCNH2
9 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.88 KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3
10 regulation of potassium ion transmembrane transport GO:1901379 9.87 KCNIP2 KCNH2 KCNE2 KCNE1
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.86 SCN5A KCNE2 KCNE1 CACNA1C
12 protein homooligomerization GO:0051260 9.85 KCND3 KCND2 KCNA5
13 atrial cardiac muscle cell action potential GO:0086014 9.85 SCN5A KCNQ1 KCNA5 GJA1
14 ventricular cardiac muscle cell action potential GO:0086005 9.85 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
15 membrane repolarization during action potential GO:0086011 9.84 KCNQ1 KCNH2 KCNE2 KCNE1
16 cellular response to drug GO:0035690 9.83 KCNQ1 KCNH2 KCNE2
17 membrane repolarization GO:0086009 9.8 KCNQ1 KCNIP2 KCNH2 KCNE2 KCNE1 KCND3
18 potassium ion export across plasma membrane GO:0097623 9.8 KCNQ1 KCNIP2 KCNH2 KCNE2 KCNE1 KCND3
19 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.79 KCNQ1 KCNE2 KCNE1
20 positive regulation of potassium ion transmembrane transport GO:1901381 9.78 KCNQ1 KCNH2 KCNE1
21 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.77 RYR2 GJA1 CACNA1C
22 regulation of membrane repolarization GO:0060306 9.77 KCNQ1 KCNH2 KCNE2
23 regulation of heart rate by cardiac conduction GO:0086091 9.76 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 KCND3
24 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.75 SCN5A KCNQ1 KCNA5
25 potassium ion homeostasis GO:0055075 9.68 KCNH2 KCNA5
26 membrane depolarization during action potential GO:0086010 9.68 SCN5A KCNH2
27 calcium ion transport into cytosol GO:0060402 9.67 RYR2 CACNA1C
28 detection of calcium ion GO:0005513 9.67 RYR2 KCNIP2
29 cellular response to epinephrine stimulus GO:0071872 9.67 RYR2 KCNQ1
30 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.66 SCN5A CACNA1C
31 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.66 RYR2 CACNA1C
32 neurotransmitter catabolic process GO:0042135 9.65 COLQ ACHE
33 regulation of delayed rectifier potassium channel activity GO:1902259 9.65 KCNE2 KCNE1
34 negative regulation of voltage-gated potassium channel activity GO:1903817 9.64 KCNQ1 KCNE2
35 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.64 KCNQ1 KCNA5
36 membrane depolarization during AV node cell action potential GO:0086045 9.63 SCN5A CACNA1C
37 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.62 SCN5A CACNA1C
38 acetylcholine catabolic process in synaptic cleft GO:0001507 9.62 COLQ ACHE
39 cardiac conduction GO:0061337 9.61 SCN5A KCNQ1 KCNIP2 KCNH2 KCNE2 KCNE1
40 regulation of ion transmembrane transport GO:0034765 9.32 SCN5A KCNQ1 KCNIP2 KCNH2 KCNE2 KCNE1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.53 VASP SLC30A6 SERPINA3 SCN5A RYR2 POLR2G
2 ion channel activity GO:0005216 9.97 SCN5A RYR2 KCNQ1 KCNH2 KCND3 KCND2
3 ion channel binding GO:0044325 9.95 SCN5A RYR2 KCNQ1 KCNIP2 KCNE2 KCNE1
4 calmodulin binding GO:0005516 9.83 SCN5A RYR2 KCNQ1 CACNA1C
5 delayed rectifier potassium channel activity GO:0005251 9.83 KCNQ1 KCNH2 KCNE2 KCNE1 KCNA5
6 voltage-gated potassium channel activity GO:0005249 9.8 KCNQ1 KCNH2 KCNE2 KCNE1 KCND3 KCND2
7 scaffold protein binding GO:0097110 9.78 SCN5A KCNQ1 KCNH2 KCNA5
8 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.72 KCNQ1 KCNH2 KCNE2 KCNE1 KCND3
9 potassium channel regulator activity GO:0015459 9.69 KCNIP2 KCNE2 KCNE1
10 A-type (transient outward) potassium channel activity GO:0005250 9.63 KCNIP2 KCND3 KCND2
11 inward rectifier potassium channel activity GO:0005242 9.58 KCNH2 KCNE2
12 alpha-actinin binding GO:0051393 9.57 KCNA5 CACNA1C
13 protein kinase A catalytic subunit binding GO:0034236 9.56 RYR2 KCNQ1
14 potassium channel activity GO:0005267 9.56 KCNQ1 KCNIP2 KCNH2 KCNE2 KCNE1 KCND3
15 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.55 KCNQ1 KCNIP2 KCNH2 KCNE1 KCND3
16 outward rectifier potassium channel activity GO:0015271 9.54 KCNQ1 KCNA5
17 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.49 KCNQ1 KCNA5
18 voltage-gated ion channel activity GO:0005244 9.32 SCN5A KCNQ1 KCNIP2 KCNH2 KCNE2 KCNE1

Sources for Myasthenic Syndrome, Congenital, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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