CMS7
MCID: MYS044
MIFTS: 30

Myasthenic Syndrome, Congenital, 7, Presynaptic (CMS7)

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 7, Presynaptic

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 7, Presynaptic:

Name: Myasthenic Syndrome, Congenital, 7, Presynaptic 56 73 29 6
Myasthenic Syndrome, Presynaptic, Congenital, with or Without Motor Neuropathy 56 73 71
Cms7 56 12 73
Congenital Myasthenic Syndrome 7 12 15
Myspc 56 73
Myasthenic Syndrome, Presynaptic, Congenital, with or Without Motor Neuropathy; Myspc 56
Myasthenic Syndrome, Congenital, Type 7, Presynaptic 39
Congenital Myasthenic Syndrome 7 Presynaptic 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
two unrelated families have been reported (last curated september 2014)


HPO:

31
myasthenic syndrome, congenital, 7, presynaptic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110659
OMIM 56 616040
OMIM Phenotypic Series 56 PS601462
MeSH 43 D020294
UMLS 71 C4015038

Summaries for Myasthenic Syndrome, Congenital, 7, Presynaptic

UniProtKB/Swiss-Prot : 73 Myasthenic syndrome, congenital, 7, presynaptic: 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. CMS7 is an autosomal dominant, presynaptic disorder resembling Lambert-Eaton myasthenic syndrome. Affected individuals have a variable degree of proximal and distal limb weakness, muscle fatigue that improves with rest, mild gait difficulties, and reduced or absent deep tendon reflexes.

MalaCards based summary : Myasthenic Syndrome, Congenital, 7, Presynaptic, also known as myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy, is related to malt worker's lung and neuromuscular junction disease. An important gene associated with Myasthenic Syndrome, Congenital, 7, Presynaptic is SYT2 (Synaptotagmin 2). Affiliated tissues include skeletal muscle, and related phenotypes are hearing impairment and skeletal muscle atrophy

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has material basis in heterozygous mutation in the SYT2 gene on chromosome 1q32.

OMIM : 56 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). 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. CMS7 is an autosomal dominant CMS resulting from a presynaptic defect; patients have onset of symptoms in early childhood (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616040)

Related Diseases for Myasthenic Syndrome, Congenital, 7, Presynaptic

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 7, Presynaptic:



Diseases related to Myasthenic Syndrome, Congenital, 7, Presynaptic

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 7, Presynaptic

Human phenotypes related to Myasthenic Syndrome, Congenital, 7, Presynaptic:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 skeletal muscle atrophy 31 occasional (7.5%) HP:0003202
3 proximal muscle weakness 31 occasional (7.5%) HP:0003701
4 gait disturbance 31 HP:0001288
5 easy fatigability 31 HP:0003388
6 areflexia 31 HP:0001284
7 pes cavus 31 HP:0001761
8 hyporeflexia 31 HP:0001265
9 hammertoe 31 HP:0001765
10 distal muscle weakness 31 HP:0002460

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
motor neuropathy (1 family)

Head And Neck Ears:
hearing loss (2 patients)

Muscle Soft Tissue:
gait abnormalities
proximal muscle weakness (in some patients)
distal muscle weakness (lower limbs more severely affected than upper limbs)
easy fatigability with exercise
impaired toe-walking
more
Skeletal Pelvis:
hip dislocation, congenital (1 family)

Clinical features from OMIM:

616040

GenomeRNAi Phenotypes related to Myasthenic Syndrome, Congenital, 7, Presynaptic according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.02 DLGAP1 ERAL1 MYL4 MYOM3 PHC3

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 7, Presynaptic

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 7, Presynaptic

Genetic Tests for Myasthenic Syndrome, Congenital, 7, Presynaptic

Genetic tests related to Myasthenic Syndrome, Congenital, 7, Presynaptic:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 7, Presynaptic 29 SYT2

Anatomical Context for Myasthenic Syndrome, Congenital, 7, Presynaptic

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 7, Presynaptic:

40
Skeletal Muscle

Publications for Myasthenic Syndrome, Congenital, 7, Presynaptic

Articles related to Myasthenic Syndrome, Congenital, 7, Presynaptic:

# Title Authors PMID Year
1
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. 6 56
25192047 2014
2
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. 56
26519543 2015
3
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 56
25792100 2015
4
Congenital Myasthenic Syndromes 6
20301347 2003
5
Identification of an immunogenic neo-epitope encoded by mouse sarcoma using CXCR3 ligand mRNAs as sensors. 61
28638727 2017
6
[Methanotrophic bacteria in cold seeps of the floodplains of northern rivers]. 61
25509412 2013
7
Peptides derived from a wild-type murine proto-oncogene c-erbB-2/HER2/neu can induce CTL and tumor suppression in syngeneic hosts. 61
9233630 1997

Variations for Myasthenic Syndrome, Congenital, 7, Presynaptic

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 7, Presynaptic:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SYT2 NM_177402.5(SYT2):c.920A>C (p.Asp307Ala)SNV Pathogenic 156368 rs587777781 1:202568479-202568479 1:202599351-202599351
2 SYT2 NM_177402.5(SYT2):c.923C>T (p.Pro308Leu)SNV Pathogenic 156369 rs587777782 1:202568476-202568476 1:202599348-202599348

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 7, Presynaptic:

73
# Symbol AA change Variation ID SNP ID
1 SYT2 p.Asp307Ala VAR_072578 rs587777781
2 SYT2 p.Pro308Leu VAR_072579 rs587777782

Expression for Myasthenic Syndrome, Congenital, 7, Presynaptic

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 7, Presynaptic.

Pathways for Myasthenic Syndrome, Congenital, 7, Presynaptic

GO Terms for Myasthenic Syndrome, Congenital, 7, Presynaptic

Molecular functions related to Myasthenic Syndrome, Congenital, 7, Presynaptic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.13 NRAP MYOM3 MYL4
2 muscle alpha-actinin binding GO:0051371 8.62 NRAP MYOM3

Sources for Myasthenic Syndrome, Congenital, 7, Presynaptic

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
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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48 NCI
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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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