CMS5
MCID: MYS051
MIFTS: 40

Myasthenic Syndrome, Congenital, 5 (CMS5) malady

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 5

Aliases & Descriptions for Myasthenic Syndrome, Congenital, 5:

Name: Myasthenic Syndrome, Congenital, 5 54 66
Endplate Acetylcholinesterase Deficiency 66 29 13 52 69
Congenital Myasthenic Syndrome Type Ic 12 66
Engel Congenital Myasthenic Syndrome 12 66
Congenital Myasthenic Syndrome 5 12 14
Cms Ic 12 66
Cms5 12 66
Ead 12 66
Myasthenic Syndrome, Congenital, Engel Type 66
Congenital Myasthenic Syndrome Engel Type 12
End Plate Acetylcholinesterase Deficiency 12
End-Plate Acetylcholinesterase Deficiency 66
Synaptic Congenital Myasthenic Syndromes 56
Congenital Myasthenic Syndrome Type 1c 66
Cms1c 66
Cmse 66

Characteristics:

HPO:

32
myasthenic syndrome, congenital, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 603034
Disease Ontology 12 DOID:0110667
Orphanet 56 ORPHA98915
ICD10 via Orphanet 34 G70.2
MedGen 40 C1864233
MeSH 42 D020294

Summaries for Myasthenic Syndrome, Congenital, 5

OMIM : 54 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients... (603034) more...

MalaCards based summary : Myasthenic Syndrome, Congenital, 5, also known as endplate acetylcholinesterase deficiency, is related to myasthenic syndrome, congenital, 1a, slow-channel and atrial fibrillation, familial, 3, and has symptoms including ophthalmoparesis, generalized muscle weakness and ptosis. 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 Ephedrine and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include eye.

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 : 66 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, 5 Myasthenic Syndrome, Congenital, 10
Myasthenic Syndrome, Congenital, 17 Myasthenic Syndrome, Congenital, 16
Myasthenic Syndrome, Congenital, 18 Congenital Myasthenic Syndrome 20
Congenital Myasthenic Syndrome 21 Congenital Myasthenic Syndrome 19
Agrn-Related Congenital Myasthenic Syndrome Chat-Related Congenital Myasthenic Syndrome
Chrna1-Related Congenital Myasthenic Syndrome Chrnb1-Related Congenital Myasthenic Syndrome
Chrnd-Related Congenital Myasthenic Syndrome Chrne-Related Congenital Myasthenic Syndrome
Col13a1-Related Congenital Myasthenic Syndrome Colq-Related Congenital Myasthenic Syndrome
Dok7-Related Congenital Myasthenic Syndrome Gfpt1-Related Congenital Myasthenic Syndrome
Musk-Related Congenital Myasthenic Syndrome Rapsn-Related Congenital Myasthenic Syndrome
Scn4a-Related Congenital Myasthenic Syndrome Snap25-Related Congenital Myasthenic Syndrome
Syt2-Related Congenital Myasthenic Syndrome

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

id Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 1a, slow-channel 10.8
2 atrial fibrillation, familial, 3 10.0 COLQ KCNH1 KCNH2
3 congenital myasthenic syndrome 10.0
4 acneiform dermatitis 9.9 ACHE COLQ DPAGT1 KCNH1
5 conus medullaris neoplasm 9.3 ACHE COLQ DPAGT1 GOLIM4 KCNH1 LAMB2
6 lipodystrophy, familial partial, type 3 7.9 ACHE COLQ DPAGT1 EPX EWSR1 GOLIM4

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

Symptoms by clinical synopsis from OMIM:

603034

Clinical features from OMIM:

603034

Human phenotypes related to Myasthenic Syndrome, Congenital, 5:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 ophthalmoparesis 32 HP:0000597
2 generalized muscle weakness 32 HP:0003324
3 ptosis 32 HP:0000508
4 muscular hypotonia 32 HP:0001252
5 dysarthria 32 HP:0001260
6 dysphagia 32 HP:0002015
7 respiratory insufficiency 32 HP:0002093
8 scoliosis 32 HP:0002650
9 hyperlordosis 32 HP:0003307
10 feeding difficulties in infancy 32 HP:0008872
11 decreased muscle mass 32 HP:0003199
12 respiratory insufficiency due to muscle weakness 32 HP:0002747
13 abnormality of the immune system 32 HP:0002715
14 weak cry 32 HP:0001612
15 fatigable weakness 32 HP:0003473
16 limb muscle weakness 32 HP:0003690
17 easy fatigability 32 HP:0003388
18 emg 32 HP:0003403
19 type 2 muscle fiber atrophy 32 HP:0003554
20 prolonged miniature endplate currents 32 HP:0003436
21 decreased size of nerve terminals 32 HP:0003443

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 15)
id 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 Adrenergic Agents Phase 1, Phase 2
4 Nasal Decongestants Phase 1, Phase 2
5 Neurotransmitter Agents Phase 1, Phase 2
6 Peripheral Nervous System Agents Phase 1, Phase 2
7 Vasoconstrictor Agents Phase 1, Phase 2
8 Anti-Asthmatic Agents Phase 1, Phase 2
9 Respiratory System Agents Phase 1, Phase 2
10 Autonomic Agents Phase 1, Phase 2
11 Bronchodilator Agents Phase 1, Phase 2
12 Central Nervous System Stimulants Phase 1, Phase 2
13
4-Aminopyridine Approved 504-24-5 1727
14 Potassium Channel Blockers
15 3,4-diaminopyridine

Interventional clinical trials:


id Name Status NCT ID Phase
1 Ephedrine for the Treatment of Congenital Myasthenia Unknown status NCT00541216 Phase 1, Phase 2
2 Treatment of Lambert-Eaton Myasthenic Syndrome (LEMS) With 3, 4 DAP No longer available NCT01378546

Search NIH Clinical Center for Myasthenic Syndrome, Congenital, 5

Genetic Tests for Myasthenic Syndrome, Congenital, 5

Genetic tests related to Myasthenic Syndrome, Congenital, 5:

id 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:

39
Eye

Publications for Myasthenic Syndrome, Congenital, 5

Variations for Myasthenic Syndrome, Congenital, 5

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

66
id 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
4 COLQ p.Tyr430Ser VAR_010136 rs121908923
5 COLQ p.Cys444Tyr VAR_010137
6 COLQ p.Ile337Thr VAR_071710

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

6 (show all 11)
id 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.506C> G (p.Ser169Ter) single nucleotide variant Pathogenic rs104893734 GRCh37 Chromosome 3, 15516954: 15516954
4 COLQ NM_005677.3(COLQ): c.844A> T (p.Arg282Ter) single nucleotide variant Pathogenic rs121908922 GRCh37 Chromosome 3, 15499803: 15499803
5 COLQ NM_005677.3(COLQ): c.1082delC (p.Pro361Leufs) deletion Pathogenic rs769982050 GRCh37 Chromosome 3, 15497519: 15497519
6 COLQ NM_005677.3(COLQ): c.788dupC (p.Pro265Alafs) duplication Pathogenic rs759911990 GRCh37 Chromosome 3, 15507874: 15507874
7 COLQ NM_005677.3(COLQ): c.1289A> C (p.Tyr430Ser) single nucleotide variant Pathogenic rs121908923 GRCh37 Chromosome 3, 15495345: 15495345
8 COLQ NM_005677.3(COLQ): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs121908924 GRCh37 Chromosome 3, 15499704: 15499704
9 COLQ COLQ, IVS16DS, A-G, +3 single nucleotide variant Pathogenic
10 COLQ NM_005677.3(COLQ): c.718G> T (p.Gly240Ter) single nucleotide variant Pathogenic rs104893735 GRCh37 Chromosome 3, 15507944: 15507944
11 COLQ NM_005677.3(COLQ): c.529-2A> G single nucleotide variant Pathogenic rs755236236 GRCh37 Chromosome 3, 15516460: 15516460

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 DNA-directed RNA polymerase II, core complex GO:0005665 9.16 POLR2D POLR2G
2 basal lamina GO:0005605 9.13 ACHE COLQ LAMB2
3 synaptic cleft GO:0043083 8.8 ACHE COLQ LAMB2

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

id Name GO ID Score Top Affiliating Genes
1 7-methylguanosine mRNA capping GO:0006370 9.37 POLR2D POLR2G
2 positive regulation of viral transcription GO:0050434 9.32 POLR2D POLR2G
3 positive regulation of translational initiation GO:0045948 9.26 POLR2D POLR2G
4 neurotransmitter catabolic process GO:0042135 9.16 ACHE COLQ
5 phosphorelay signal transduction system GO:0000160 8.96 KCNH1 KCNH2
6 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:

id Name GO ID Score Top Affiliating Genes
1 translation initiation factor binding GO:0031369 9.16 POLR2D POLR2G
2 delayed rectifier potassium channel activity GO:0005251 8.96 KCNH1 KCNH2
3 phosphorelay sensor kinase activity GO:0000155 8.62 KCNH1 KCNH2

Sources for Myasthenic Syndrome, Congenital, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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