CMS18
MCID: MYS065
MIFTS: 30

Myasthenic Syndrome, Congenital, 18 (CMS18)

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 18

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 18:

Name: Myasthenic Syndrome, Congenital, 18 57 72 29 6
Cms18 57 12 72
Congenital Myasthenic Syndrome 18 12 15
Myasthenic Syndrome, Congenital, 18, with Intellectual Disability and Ataxia 57
Myasthenic Syndrome, Congenital, 18 with Intellectual Disability and Ataxia 72
Myasthenic Syndrome, Congenital, Type 18 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in utero
one patient has been reported (last curated april 2015)


HPO:

31
myasthenic syndrome, congenital, 18:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 18

UniProtKB/Swiss-Prot : 72 Myasthenic syndrome, congenital, 18: 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. CMS18 is an autosomal dominant presynaptic disorder clinically characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia.

MalaCards based summary : Myasthenic Syndrome, Congenital, 18, also known as cms18, is related to locked-in syndrome and form agnosia. An important gene associated with Myasthenic Syndrome, Congenital, 18 is SNAP25 (Synaptosome Associated Protein 25). Related phenotypes are ptosis and ataxia

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has material basis in heterozygous mutation in the SNAP25 gene on chromosome 20p11.

OMIM® : 57 Congenital myasthenic syndrome-18 is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by Shen et al., 2014). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616330) (Updated 05-Apr-2021)

Related Diseases for Myasthenic Syndrome, Congenital, 18

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 18:



Diseases related to Myasthenic Syndrome, Congenital, 18

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 18

Human phenotypes related to Myasthenic Syndrome, Congenital, 18:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 ataxia 31 HP:0001251
3 dysarthria 31 HP:0001260
4 muscle weakness 31 HP:0001324
5 respiratory insufficiency 31 HP:0002093
6 global developmental delay 31 HP:0001263
7 flexion contracture 31 HP:0001371
8 easy fatigability 31 HP:0003388
9 areflexia 31 HP:0001284
10 decreased fetal movement 31 HP:0001558
11 difficulty walking 31 HP:0002355
12 poor speech 31 HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis

Muscle Soft Tissue:
muscle weakness
easy fatigability
decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation
decreased spontaneous miniature endplate potentials (mepp)
decreased quantal release

Skeletal:
joint contractures

Respiratory:
respiratory insufficiency, neonatal

Neurologic Central Nervous System:
ataxia
dysarthria
difficulty walking
poor speech
delayed psychomotor development
more
Neurologic Peripheral Nervous System:
areflexia

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Neck:
weak neck muscles

Clinical features from OMIM®:

616330 (Updated 05-Apr-2021)

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 18

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 18

Genetic Tests for Myasthenic Syndrome, Congenital, 18

Genetic tests related to Myasthenic Syndrome, Congenital, 18:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 18 29 SNAP25

Anatomical Context for Myasthenic Syndrome, Congenital, 18

Publications for Myasthenic Syndrome, Congenital, 18

Articles related to Myasthenic Syndrome, Congenital, 18:

# Title Authors PMID Year
1
Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. 6 57
25381298 2014
2
Weak Genetic Structure in Northern African Dromedary Camels Reflects Their Unique Evolutionary History. 61
28103238 2017

Variations for Myasthenic Syndrome, Congenital, 18

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 18:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SNAP25 NM_003081.4(SNAP25):c.281+198T>A SNV Pathogenic 253030 rs1555794286 GRCh37: 20:10273845-10273845
GRCh38: 20:10293197-10293197
2 SNAP25 NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter) SNV Likely pathogenic 986340 GRCh37: 20:10286813-10286813
GRCh38: 20:10306165-10306165
3 SNAP25 NM_130811.4(SNAP25):c.553G>C (p.Ala185Pro) SNV Likely pathogenic 803598 rs1600807788 GRCh37: 20:10286777-10286777
GRCh38: 20:10306129-10306129
4 SNAP25 NM_130811.4(SNAP25):c.220G>A (p.Ala74Thr) SNV Uncertain significance 816911 rs1600775326 GRCh37: 20:10273865-10273865
GRCh38: 20:10293217-10293217
5 SNAP25 NM_130811.4(SNAP25):c.569C>T (p.Thr190Ile) SNV Uncertain significance 947540 GRCh37: 20:10286793-10286793
GRCh38: 20:10306145-10306145
6 SNAP25 NM_130811.3(SNAP25):c.256G>A (p.Gly86Arg) SNV Uncertain significance 568687 rs763054916 GRCh37: 20:10273901-10273901
GRCh38: 20:10293253-10293253
7 SNAP25 NM_130811.3(SNAP25):c.114G>C (p.Glu38Asp) SNV Uncertain significance 571417 rs763997141 GRCh37: 20:10258374-10258374
GRCh38: 20:10277726-10277726
8 SNAP25 NM_130811.4(SNAP25):c.47G>A (p.Arg16Gln) SNV Uncertain significance 856211 GRCh37: 20:10256186-10256186
GRCh38: 20:10275538-10275538
9 SNAP25 NM_130811.3(SNAP25):c.503G>A (p.Gly168Asp) SNV Uncertain significance 664612 rs1600791112 GRCh37: 20:10280011-10280011
GRCh38: 20:10299363-10299363
10 SNAP25 NM_130811.3(SNAP25):c.26A>G (p.Asn9Ser) SNV Uncertain significance 665210 rs1364361088 GRCh37: 20:10256165-10256165
GRCh38: 20:10275517-10275517
11 SNAP25 NM_003081.4(SNAP25):c.13G>A (p.Ala5Thr) SNV Uncertain significance 576987 rs201770060 GRCh37: 20:10256152-10256152
GRCh38: 20:10275504-10275504
12 SNAP25 NM_130811.4(SNAP25):c.136A>C (p.Thr46Pro) SNV Uncertain significance 841868 GRCh37: 20:10265393-10265393
GRCh38: 20:10284745-10284745
13 SNAP25 NM_130811.4(SNAP25):c.377A>G (p.Gln126Arg) SNV Uncertain significance 940496 GRCh37: 20:10277668-10277668
GRCh38: 20:10297020-10297020
14 SNAP25 NM_130811.4(SNAP25):c.394G>A (p.Gly132Ser) SNV Uncertain significance 941558 GRCh37: 20:10277685-10277685
GRCh38: 20:10297037-10297037
15 SNAP25 NM_130811.4(SNAP25):c.144_146dup (p.Met49_Leu50insIle) Duplication Uncertain significance 949561 GRCh37: 20:10265399-10265400
GRCh38: 20:10284751-10284752
16 SNAP25 NM_130811.4(SNAP25):c.4G>A (p.Ala2Thr) SNV Uncertain significance 954664 GRCh37: 20:10256143-10256143
GRCh38: 20:10275495-10275495
17 SNAP25 NM_130811.4(SNAP25):c.84C>T (p.Ser28=) SNV Uncertain significance 1022090 GRCh37: 20:10258344-10258344
GRCh38: 20:10277696-10277696
18 SNAP25 NM_130811.4(SNAP25):c.89G>A (p.Arg30His) SNV Uncertain significance 1025754 GRCh37: 20:10258349-10258349
GRCh38: 20:10277701-10277701
19 SNAP25 NM_003081.4(SNAP25):c.358G>A (p.Val120Ile) SNV Uncertain significance 661547 rs761830881 GRCh37: 20:10277649-10277649
GRCh38: 20:10297001-10297001
20 SNAP25 NM_130811.4(SNAP25):c.407+3G>A SNV Uncertain significance 962830 GRCh37: 20:10277701-10277701
GRCh38: 20:10297053-10297053
21 SNAP25 NM_130811.4(SNAP25):c.591A>C (p.Gln197His) SNV Uncertain significance 1042738 GRCh37: 20:10286815-10286815
GRCh38: 20:10306167-10306167
22 SNAP25 NM_130811.4(SNAP25):c.495G>A (p.Leu165=) SNV Uncertain significance 1044007 GRCh37: 20:10280003-10280003
GRCh38: 20:10299355-10299355
23 SNAP25 NM_130811.4(SNAP25):c.534C>T (p.Ile178=) SNV Likely benign 766786 rs200030321 GRCh37: 20:10280042-10280042
GRCh38: 20:10299394-10299394
24 SNAP25 NM_130811.4(SNAP25):c.73-9A>G SNV Likely benign 775005 rs371883444 GRCh37: 20:10258324-10258324
GRCh38: 20:10277676-10277676
25 SNAP25 NM_130811.4(SNAP25):c.552+3G>T SNV Likely benign 800201 rs780941797 GRCh37: 20:10280063-10280063
GRCh38: 20:10299415-10299415
26 SNAP25 NM_130811.3(SNAP25):c.366C>T (p.Asp122=) SNV Likely benign 476113 rs377498338 GRCh37: 20:10277657-10277657
GRCh38: 20:10297009-10297009
27 SNAP25 NM_130811.3(SNAP25):c.552+9G>A SNV Likely benign 476114 rs375161376 GRCh37: 20:10280069-10280069
GRCh38: 20:10299421-10299421
28 SNAP25 NM_003081.4(SNAP25):c.462C>T (p.Ser154=) SNV Likely benign 542729 rs201639889 GRCh37: 20:10279970-10279970
GRCh38: 20:10299322-10299322
29 SNAP25 NM_003081.4(SNAP25):c.6C>T (p.Ala2=) SNV Likely benign 542730 rs11547858 GRCh37: 20:10256145-10256145
GRCh38: 20:10275497-10275497
30 SNAP25 NM_003081.4(SNAP25):c.553-4C>T SNV Benign 476115 rs79020892 GRCh37: 20:10286773-10286773
GRCh38: 20:10306125-10306125
31 SNAP25 NM_130811.3(SNAP25):c.-63-21820G>A SNV Benign 542731 rs363050 GRCh37: 20:10234257-10234257
GRCh38: 20:10253609-10253609
32 SNAP25 NM_130811.4(SNAP25):c.75G>T (p.Ser25=) SNV Benign 707742 rs147866099 GRCh37: 20:10258335-10258335
GRCh38: 20:10277687-10277687

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 18:

72
# Symbol AA change Variation ID SNP ID
1 SNAP25 p.Ile67Asn VAR_073698 rs155579428

Expression for Myasthenic Syndrome, Congenital, 18

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 18.

Pathways for Myasthenic Syndrome, Congenital, 18

GO Terms for Myasthenic Syndrome, Congenital, 18

Cellular components related to Myasthenic Syndrome, Congenital, 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.35 TSNAX SNAP25 SERF1B SERF1A PIR
2 cytosol GO:0005829 9.02 TSNAX SNAP25 SERF1B SERF1A PIR

Biological processes related to Myasthenic Syndrome, Congenital, 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein destabilization GO:0031648 8.96 SERF1B SERF1A
2 amyloid fibril formation GO:1990000 8.62 SERF1B SERF1A

Sources for Myasthenic Syndrome, Congenital, 18

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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