MCID: MYS044
MIFTS: 34

Myasthenic Syndrome, Congenital, 7, Presynaptic

Categories: Genetic diseases, Neuronal diseases, Eye 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 57 75 29 6
Myasthenic Syndrome, Presynaptic, Congenital, with or Without Motor Neuropathy 57 75 73
Cms7 57 12 75
Congenital Myasthenic Syndrome 7 12 15
Myspc 57 75
Myasthenic Syndrome, Presynaptic, Congenital, with or Without Motor Neuropathy; Myspc 57
Myasthenic Syndrome, Congenital, Type 7, Presynaptic 40
Congenital Myasthenic Syndrome 7 Presynaptic 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
myasthenic syndrome, congenital, 7, presynaptic:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 7, Presynaptic

UniProtKB/Swiss-Prot : 75 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 opsoclonus-myoclonus syndrome and sympathetic ophthalmia. An important gene associated with Myasthenic Syndrome, Congenital, 7, Presynaptic is SYT2 (Synaptotagmin 2), and among its related pathways/superpathways are NF-kappaB Signaling and T cell receptor signaling pathway. Affiliated tissues include skeletal muscle, and related phenotypes are hearing impairment and hyporeflexia

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 : 57 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

Diseases in the Presynaptic Congenital Myasthenic Syndromes family:

Myasthenic Syndrome, Congenital, 6, Presynaptic Myasthenic Syndrome, Congenital, 7, Presynaptic
Myasthenic Syndrome, Congenital, 20, Presynaptic Myasthenic Syndrome, Congenital, 21, Presynaptic

Diseases related to Myasthenic Syndrome, Congenital, 7, Presynaptic via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 opsoclonus-myoclonus syndrome 10.0 CXCL9 CXCR3
2 sympathetic ophthalmia 9.8 CTLA4 PDCD1
3 autoimmune hepatitis 9.6 CTLA4 PDCD1
4 alopecia areata 9.6 CTLA4 CXCL9
5 lichen planus 9.4 CXCL9 CXCR3
6 autoimmune disease 9.3 CTLA4 CXCR3 PDCD1
7 mycosis fungoides 9.2 CTLA4 CXCL9 CXCR3
8 multiple sclerosis 8.8 CTLA4 CXCL9 CXCR3 PDCD1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 occasional (7.5%) HP:0000365
2 hyporeflexia 32 HP:0001265
3 areflexia 32 HP:0001284
4 gait disturbance 32 HP:0001288
5 pes cavus 32 HP:0001761
6 hammertoe 32 HP:0001765
7 distal muscle weakness 32 HP:0002460
8 skeletal muscle atrophy 32 occasional (7.5%) HP:0003202
9 proximal muscle weakness 32 occasional (7.5%) HP:0003701

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:

41
Skeletal Muscle

Publications for Myasthenic Syndrome, Congenital, 7, Presynaptic

Variations for Myasthenic Syndrome, Congenital, 7, Presynaptic

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

75
# Symbol AA change Variation ID SNP ID
1 SYT2 p.Asp307Ala VAR_072578 rs587777781
2 SYT2 p.Pro308Leu VAR_072579 rs587777782

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SYT2 NM_177402.4(SYT2): c.920A> C (p.Asp307Ala) single nucleotide variant Pathogenic rs587777781 GRCh38 Chromosome 1, 202599351: 202599351
2 SYT2 NM_177402.4(SYT2): c.920A> C (p.Asp307Ala) single nucleotide variant Pathogenic rs587777781 GRCh37 Chromosome 1, 202568479: 202568479
3 SYT2 NM_177402.4(SYT2): c.923C> T (p.Pro308Leu) single nucleotide variant Pathogenic rs587777782 GRCh38 Chromosome 1, 202599348: 202599348
4 SYT2 NM_177402.4(SYT2): c.923C> T (p.Pro308Leu) single nucleotide variant Pathogenic rs587777782 GRCh37 Chromosome 1, 202568476: 202568476

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

Cellular components related to Myasthenic Syndrome, Congenital, 7, Presynaptic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.92 CTLA4 CXCL9 CXCR3 PDCD1

Biological processes related to Myasthenic Syndrome, Congenital, 7, Presynaptic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.62 CXCR3 MAPK1 PDCD1 TNFRSF18
2 inflammatory response GO:0006954 9.61 CXCL9 CXCR3 TNFRSF18
3 response to lipopolysaccharide GO:0032496 9.43 CXCL9 MAPK1 TNFRSF18
4 T cell costimulation GO:0031295 9.4 CTLA4 PDCD1
5 chemokine-mediated signaling pathway GO:0070098 9.37 CXCL9 CXCR3
6 chemotaxis GO:0006935 9.33 CXCL9 CXCR3 MAPK1
7 regulation of regulatory T cell differentiation GO:0045589 8.96 CTLA4 TNFRSF18
8 T cell chemotaxis GO:0010818 8.62 CXCL9 CXCR3

Sources for Myasthenic Syndrome, Congenital, 7, Presynaptic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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50 NCIt
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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