CMS5
MCID: MYS051
MIFTS: 47

Myasthenic Syndrome, Congenital, 5 (CMS5)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Immune 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 58 76
Endplate Acetylcholinesterase Deficiency 58 76 30 13 56 6 74
Engel Congenital Myasthenic Syndrome 58 12 76
Cms5 58 12 76
Ead 58 12 76
Myasthenic Syndrome, Congenital, Engel Type 58 76
Congenital Myasthenic Syndrome Type Ic 12 76
Congenital Myasthenic Syndrome 5 12 15
Cms Ic 12 76
Congenital Myasthenic Syndrome Type Ic, Formerly; Cms1c, Formerly 58
Congenital Myasthenic Syndrome Type Ic, Formerly 58
Endplate Acetylcholinesterase Deficiency; Ead 58
Myasthenic Syndrome, Congenital, Type 5 ) 41
Congenital Myasthenic Syndrome Engel Type 12
End Plate Acetylcholinesterase Deficiency 12
End-Plate Acetylcholinesterase Deficiency 76
Synaptic Congenital Myasthenic Syndromes 60
Congenital Myasthenic Syndrome Type 1c 76
Cms Ic, Formerly 58
Cms1c, Formerly 58
Cms1c 76
Cmse 76

Characteristics:

OMIM:

58
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:

33
myasthenic syndrome, congenital, 5:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 5

OMIM : 58 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 congenital myasthenic syndrome and wernicke-korsakoff syndrome, 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 is PIWI-interacting RNA (piRNA) biogenesis. The drugs Pseudoephedrine and Ephedrine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and eye, 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 : 76 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

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:

60 33 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003324
2 proximal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003701
3 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 60 33 hallmark (90%) Very frequent (99-80%) HP:0003403
4 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
5 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
6 facial palsy 60 33 frequent (33%) Frequent (79-30%) HP:0010628
7 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
8 myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003198
9 respiratory distress 60 33 frequent (33%) Frequent (79-30%) HP:0002098
10 waddling gait 60 33 frequent (33%) Frequent (79-30%) HP:0002515
11 scapular winging 60 33 frequent (33%) Frequent (79-30%) HP:0003691
12 ophthalmoparesis 60 33 frequent (33%) Frequent (79-30%) HP:0000597
13 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
14 neck muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0000467
15 distal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002460
16 weak cry 60 33 frequent (33%) Frequent (79-30%) HP:0001612
17 poor suck 60 33 frequent (33%) Frequent (79-30%) HP:0002033
18 abnormal enzyme/coenzyme activity 60 33 frequent (33%) Frequent (79-30%) HP:0012379
19 poor head control 60 33 frequent (33%) Frequent (79-30%) HP:0002421
20 bilateral ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0001488
21 unfavorable response of muscle weakness to acetylcholine esterase inhibitors 60 33 frequent (33%) Frequent (79-30%) HP:0030203
22 decreased size of nerve terminals 60 33 frequent (33%) Frequent (79-30%) HP:0003443
23 prolonged miniature endplate currents 60 33 frequent (33%) Frequent (79-30%) HP:0003436
24 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
25 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
26 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
27 sleep apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0010535
28 skeletal muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003202
29 easy fatigability 60 33 occasional (7.5%) Occasional (29-5%) HP:0003388
30 type 1 muscle fiber predominance 60 33 occasional (7.5%) Occasional (29-5%) HP:0003803
31 neonatal respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002643
32 areflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001284
33 axial muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003327
34 abnormality of the knee 60 33 occasional (7.5%) Occasional (29-5%) HP:0002815
35 hypoventilation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002791
36 recurrent lower respiratory tract infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002783
37 limited extraocular movements 60 33 occasional (7.5%) Occasional (29-5%) HP:0007941
38 slow pupillary light response 60 33 occasional (7.5%) Occasional (29-5%) HP:0030211
39 impaired mastication 33 occasional (7.5%) HP:0005216
40 mandibular prognathia 60 33 very rare (1%) Very rare (<4-1%) HP:0000303
41 abnormal facial shape 60 33 very rare (1%) Very rare (<4-1%) HP:0001999
42 pulmonary arterial hypertension 60 33 very rare (1%) Very rare (<4-1%) HP:0002092
43 talipes equinovarus 60 33 very rare (1%) Very rare (<4-1%) HP:0001762
44 frequent falls 60 33 very rare (1%) Very rare (<4-1%) HP:0002359
45 exertional dyspnea 60 33 very rare (1%) Very rare (<4-1%) HP:0002875
46 hand muscle weakness 60 33 very rare (1%) Very rare (<4-1%) HP:0030237
47 type 2 muscle fiber atrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0003554
48 right ventricular hypertrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0001667
49 limited wrist extension 60 33 very rare (1%) Very rare (<4-1%) HP:0006251
50 triangular mouth 60 33 very rare (1%) Very rare (<4-1%) HP:0000207

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 5

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
2
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
3 Vasoconstrictor Agents Phase 1, Phase 2
4 Adrenergic Agents Phase 1, Phase 2
5 Nasal Decongestants Phase 1, Phase 2
6 Bronchodilator Agents Phase 1, Phase 2
7 Respiratory System Agents Phase 1, Phase 2
8 Central Nervous System Stimulants Phase 1, Phase 2
9 Peripheral Nervous System Agents Phase 1, Phase 2
10 Neurotransmitter Agents Phase 1, Phase 2
11 Anti-Asthmatic Agents Phase 1, Phase 2
12 Autonomic Agents Phase 1, Phase 2
13 Sympathomimetics Phase 1, 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

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 30 COLQ

Anatomical Context for Myasthenic Syndrome, Congenital, 5

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

42
Skeletal Muscle, Eye

Publications for Myasthenic Syndrome, Congenital, 5

Articles related to Myasthenic Syndrome, Congenital, 5:

(show all 13)
# Title Authors Year
1
Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome. ( 29150079 )
2018
2
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction. ( 23553736 )
2013
3
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. ( 21952943 )
2011
4
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. ( 18647752 )
2008
5
Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. ( 16009904 )
2005
6
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. ( 12609505 )
2003
7
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. ( 11865139 )
2002
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? ( 10441569 )
1999
9
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). ( 9758617 )
1998
10
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. ( 9689136 )
1998
11
Treatment of congenital endplate acetylcholinesterase deficiency by neuromuscular blockade. ( 8807428 )
1996
12
Congenital endplate acetylcholinesterase deficiency. ( 8390325 )
1993
13
A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. ( 214017 )
1977

Variations for Myasthenic Syndrome, Congenital, 5

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

76
# 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

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

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 COLQ COLQ, 215-BP DEL, NT107 deletion Pathogenic
2 COLQ NM_005677.3(COLQ): c.640G> T (p.Glu214Ter) single nucleotide variant Pathogenic rs104893733 GRCh37 Chromosome 3, 15512120: 15512120
3 COLQ NM_005677.3(COLQ): c.640G> T (p.Glu214Ter) single nucleotide variant Pathogenic rs104893733 GRCh38 Chromosome 3, 15470613: 15470613
4 COLQ NM_005677.3(COLQ): c.506C> G (p.Ser169Ter) single nucleotide variant Pathogenic rs104893734 GRCh37 Chromosome 3, 15516954: 15516954
5 COLQ NM_005677.3(COLQ): c.506C> G (p.Ser169Ter) single nucleotide variant Pathogenic rs104893734 GRCh38 Chromosome 3, 15475447: 15475447
6 COLQ NM_005677.3(COLQ): c.844A> T (p.Arg282Ter) single nucleotide variant Pathogenic rs121908922 GRCh37 Chromosome 3, 15499803: 15499803
7 COLQ NM_005677.3(COLQ): c.844A> T (p.Arg282Ter) single nucleotide variant Pathogenic rs121908922 GRCh38 Chromosome 3, 15458296: 15458296
8 COLQ NM_005677.3(COLQ): c.1082delC (p.Pro361Leufs) deletion Pathogenic rs769982050 GRCh37 Chromosome 3, 15497519: 15497519
9 COLQ NM_005677.3(COLQ): c.1082delC (p.Pro361Leufs) deletion Pathogenic rs769982050 GRCh38 Chromosome 3, 15456012: 15456012
10 COLQ NM_005677.3(COLQ): c.788dupC (p.Pro265Alafs) duplication Pathogenic rs759911990 GRCh37 Chromosome 3, 15507874: 15507874
11 COLQ NM_005677.3(COLQ): c.788dupC (p.Pro265Alafs) duplication Pathogenic rs759911990 GRCh38 Chromosome 3, 15466367: 15466367
12 COLQ NM_005677.3(COLQ): c.1289A> C (p.Tyr430Ser) single nucleotide variant Pathogenic rs121908923 GRCh37 Chromosome 3, 15495345: 15495345
13 COLQ NM_005677.3(COLQ): c.1289A> C (p.Tyr430Ser) single nucleotide variant Pathogenic rs121908923 GRCh38 Chromosome 3, 15453838: 15453838
14 COLQ NM_005677.3(COLQ): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs121908924 GRCh37 Chromosome 3, 15499704: 15499704
15 COLQ NM_005677.3(COLQ): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs121908924 GRCh38 Chromosome 3, 15458197: 15458197
16 COLQ COLQ, IVS16DS, A-G, +3 single nucleotide variant Pathogenic
17 COLQ NM_005677.3(COLQ): c.718G> T (p.Gly240Ter) single nucleotide variant Pathogenic rs104893735 GRCh37 Chromosome 3, 15507944: 15507944
18 COLQ NM_005677.3(COLQ): c.718G> T (p.Gly240Ter) single nucleotide variant Pathogenic rs104893735 GRCh38 Chromosome 3, 15466437: 15466437
19 COLQ NM_005677.3(COLQ): c.1248C> T (p.Asp416=) single nucleotide variant Benign/Likely benign rs55866379 GRCh37 Chromosome 3, 15495386: 15495386
20 COLQ NM_005677.3(COLQ): c.1248C> T (p.Asp416=) single nucleotide variant Benign/Likely benign rs55866379 GRCh38 Chromosome 3, 15453879: 15453879
21 COLQ NM_005677.3(COLQ): c.366+7A> G single nucleotide variant Benign/Likely benign rs750387 GRCh37 Chromosome 3, 15520838: 15520838
22 COLQ NM_005677.3(COLQ): c.366+7A> G single nucleotide variant Benign/Likely benign rs750387 GRCh38 Chromosome 3, 15479331: 15479331
23 COLQ NM_005677.3(COLQ): c.934A> G (p.Ser312Gly) single nucleotide variant Benign/Likely benign rs6782980 GRCh37 Chromosome 3, 15499713: 15499713
24 COLQ NM_005677.3(COLQ): c.934A> G (p.Ser312Gly) single nucleotide variant Benign/Likely benign rs6782980 GRCh38 Chromosome 3, 15458206: 15458206
25 COLQ NM_005677.3(COLQ): c.291G> A (p.Ser97=) single nucleotide variant Benign/Likely benign rs115201284 GRCh37 Chromosome 3, 15529743: 15529743
26 COLQ NM_005677.3(COLQ): c.291G> A (p.Ser97=) single nucleotide variant Benign/Likely benign rs115201284 GRCh38 Chromosome 3, 15488236: 15488236
27 COLQ NM_005677.3(COLQ): c.391A> G (p.Lys131Glu) single nucleotide variant Uncertain significance rs142980906 GRCh37 Chromosome 3, 15520486: 15520486
28 COLQ NM_005677.3(COLQ): c.391A> G (p.Lys131Glu) single nucleotide variant Uncertain significance rs142980906 GRCh38 Chromosome 3, 15478979: 15478979
29 COLQ NM_005677.3(COLQ): c.1338C> A (p.Ile446=) single nucleotide variant Benign/Likely benign rs73818504 GRCh38 Chromosome 3, 15451674: 15451674
30 COLQ NM_005677.3(COLQ): c.1338C> A (p.Ile446=) single nucleotide variant Benign/Likely benign rs73818504 GRCh37 Chromosome 3, 15493181: 15493181
31 COLQ NM_005677.3(COLQ): c.1108G> A (p.Asp370Asn) single nucleotide variant Benign/Likely benign rs116373583 GRCh38 Chromosome 3, 15455986: 15455986
32 COLQ NM_005677.3(COLQ): c.1108G> A (p.Asp370Asn) single nucleotide variant Benign/Likely benign rs116373583 GRCh37 Chromosome 3, 15497493: 15497493
33 COLQ NM_005677.3(COLQ): c.72G> A (p.Pro24=) single nucleotide variant Likely benign rs111339593 GRCh37 Chromosome 3, 15563061: 15563061
34 COLQ NM_005677.3(COLQ): c.72G> A (p.Pro24=) single nucleotide variant Likely benign rs111339593 GRCh38 Chromosome 3, 15521554: 15521554
35 COLQ NM_005677.3(COLQ): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs770045897 GRCh37 Chromosome 3, 15512081: 15512081
36 COLQ NM_005677.3(COLQ): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs770045897 GRCh38 Chromosome 3, 15470574: 15470574
37 COLQ NM_005677.3(COLQ): c.23C> G (p.Thr8Ser) single nucleotide variant Benign/Likely benign rs189427175 GRCh37 Chromosome 3, 15563110: 15563110
38 COLQ NM_005677.3(COLQ): c.23C> G (p.Thr8Ser) single nucleotide variant Benign/Likely benign rs189427175 GRCh38 Chromosome 3, 15521603: 15521603
39 COLQ NM_005677.3(COLQ): c.106+6T> C single nucleotide variant Uncertain significance rs201376373 GRCh37 Chromosome 3, 15563021: 15563021
40 COLQ NM_005677.3(COLQ): c.106+6T> C single nucleotide variant Uncertain significance rs201376373 GRCh38 Chromosome 3, 15521514: 15521514
41 COLQ NM_005677.3(COLQ): c.1081C> T (p.Pro361Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116828761 GRCh38 Chromosome 3, 15456013: 15456013
42 COLQ NM_005677.3(COLQ): c.1081C> T (p.Pro361Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116828761 GRCh37 Chromosome 3, 15497520: 15497520
43 COLQ NM_005677.3(COLQ): c.912C> T (p.Tyr304=) single nucleotide variant Conflicting interpretations of pathogenicity rs886058099 GRCh38 Chromosome 3, 15458228: 15458228
44 COLQ NM_005677.3(COLQ): c.912C> T (p.Tyr304=) single nucleotide variant Conflicting interpretations of pathogenicity rs886058099 GRCh37 Chromosome 3, 15499735: 15499735
45 COLQ NM_005677.3(COLQ): c.561C> T (p.Ser187=) single nucleotide variant Conflicting interpretations of pathogenicity rs149370622 GRCh38 Chromosome 3, 15474267: 15474267
46 COLQ NM_005677.3(COLQ): c.561C> T (p.Ser187=) single nucleotide variant Conflicting interpretations of pathogenicity rs149370622 GRCh37 Chromosome 3, 15515774: 15515774
47 COLQ NM_005677.3(COLQ): c.788C> T (p.Pro263Leu) single nucleotide variant Uncertain significance rs146619514 GRCh38 Chromosome 3, 15466367: 15466367
48 COLQ NM_005677.3(COLQ): c.788C> T (p.Pro263Leu) single nucleotide variant Uncertain significance rs146619514 GRCh37 Chromosome 3, 15507874: 15507874
49 COLQ NM_005677.3(COLQ): c.1228C> T (p.Arg410Trp) single nucleotide variant Likely pathogenic rs139574075 GRCh38 Chromosome 3, 15453899: 15453899
50 COLQ NM_005677.3(COLQ): c.1228C> T (p.Arg410Trp) single nucleotide variant Likely pathogenic rs139574075 GRCh37 Chromosome 3, 15495406: 15495406

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 10.09 POLR2D POLR2G

GO Terms for Myasthenic Syndrome, Congenital, 5

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

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.33 ACHE COLQ LAMB2
2 RNA polymerase II, core complex GO:0005665 9.26 POLR2D POLR2G
3 neuromuscular junction GO:0031594 9.13 ACHE COLQ LAMB2
4 synaptic cleft GO:0043083 8.8 ACHE COLQ LAMB2

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

# Name GO ID Score Top Affiliating Genes
1 7-methylguanosine mRNA capping GO:0006370 9.32 POLR2D POLR2G
2 positive regulation of translational initiation GO:0045948 9.26 POLR2D POLR2G
3 ventricular cardiac muscle cell action potential GO:0086005 9.16 KCNH2 RYR2
4 neurotransmitter catabolic process GO:0042135 8.96 ACHE COLQ
5 acetylcholine catabolic process in synaptic cleft GO:0001507 8.62 ACHE COLQ

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

# Name GO ID Score Top Affiliating Genes
1 delayed rectifier potassium channel activity GO:0005251 9.16 KCNH1 KCNH2
2 ion channel activity GO:0005216 9.13 KCNH1 KCNH2 RYR2
3 translation initiation factor binding GO:0031369 8.62 POLR2D POLR2G

Sources for Myasthenic Syndrome, Congenital, 5

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70 SNOMED-CT via HPO
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