MCID: MYS075
MIFTS: 32

Myasthenic Syndrome, Congenital, 13

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 13

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 13:

Name: Myasthenic Syndrome, Congenital, 13 57 75
Congenital Myasthenic Syndrome 13 12 29 6 15
Myasthenic Syndrome, Congenital, with Tubular Aggregates 2 57 13 73
Cmsta2 57 12 75
Cms13 57 12 75
Myasthenic Syndrome, Congenital, with Tubular Aggregates 2; Cmsta2 57
Myasthenic Syndrome, Congenital, with Tubular Aggregates, Type 2 40
Myasthenic Syndrome, Congenital, 13, with Tubular Aggregates 57
Myasthenic Syndrome, Congenital, with Tubular Aggregates, 2 75
Congenital Myasthenic Syndrome 13 with Tubular Aggregates 12
Congenital Myasthenic Syndrome with Tubular Aggregates 2 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood (range 0.5 to 7 years)
slowly progressive
some patients show improvement in muscle power in the teenage years
favorable response to acetylcholinesterase inhibitors


HPO:

32
myasthenic syndrome, congenital, 13:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

OMIM 57 614750
Disease Ontology 12 DOID:0110676
MedGen 42 C3553645
MeSH 44 D020294
UMLS 73 C3553645

Summaries for Myasthenic Syndrome, Congenital, 13

UniProtKB/Swiss-Prot : 75 Myasthenic syndrome, congenital, 13: 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. CMS13 is characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography.

MalaCards based summary : Myasthenic Syndrome, Congenital, 13, also known as congenital myasthenic syndrome 13, is related to cowpox and skin melanoma. An important gene associated with Myasthenic Syndrome, Congenital, 13 is DPAGT1 (Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1), and among its related pathways/superpathways are TNFR1 Pathway and Pathways in cancer. Related phenotypes are ptosis and scoliosis

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has material basis in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.

OMIM : 57 Congenital myasthenic syndrome-13 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Belaya et al., 2012). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (614750)

Related Diseases for Myasthenic Syndrome, Congenital, 13

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 13

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis, mild (less common)

Muscle Soft Tissue:
hypotonia
proximal muscle weakness
tubular aggregates seen on muscle biopsy
decreased achr at the endplate
decreased postsynaptic folding at the neuromuscular junction
more
Laboratory Abnormalities:
hypoglycosylated serum transferrin

Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
delayed motor development
unsteady gait due to muscle weakness


Clinical features from OMIM:

614750

Human phenotypes related to Myasthenic Syndrome, Congenital, 13:

32
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 scoliosis 32 HP:0002650
3 motor delay 32 HP:0001270
4 proximal muscle weakness 32 HP:0003701
5 generalized hypotonia 32 HP:0001290

GenomeRNAi Phenotypes related to Myasthenic Syndrome, Congenital, 13 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 8.62 DIABLO CASP3

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 13

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 13

Genetic Tests for Myasthenic Syndrome, Congenital, 13

Genetic tests related to Myasthenic Syndrome, Congenital, 13:

# Genetic test Affiliating Genes
1 Congenital Myasthenic Syndrome 13 29 DPAGT1

Anatomical Context for Myasthenic Syndrome, Congenital, 13

Publications for Myasthenic Syndrome, Congenital, 13

Variations for Myasthenic Syndrome, Congenital, 13

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 13:

75
# Symbol AA change Variation ID SNP ID
1 DPAGT1 p.Met108Ile VAR_068810 rs376039938
2 DPAGT1 p.Val117Ile VAR_068811 rs387907243
3 DPAGT1 p.Leu120Met VAR_068812 rs387907244
4 DPAGT1 p.Gly160Ser VAR_068813 rs762676399
5 DPAGT1 p.Gly192Ser VAR_068814 rs768464558
6 DPAGT1 p.Val264Gly VAR_068815 rs387907245

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 13:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPAGT1 NM_001382.3(DPAGT1): c.349G> A (p.Val117Ile) single nucleotide variant Pathogenic rs387907243 GRCh37 Chromosome 11, 118971487: 118971487
2 DPAGT1 NM_001382.3(DPAGT1): c.349G> A (p.Val117Ile) single nucleotide variant Pathogenic rs387907243 GRCh38 Chromosome 11, 119100777: 119100777
3 DPAGT1 NM_001382.3(DPAGT1): c.324G> C (p.Met108Ile) single nucleotide variant Pathogenic rs376039938 GRCh37 Chromosome 11, 118971512: 118971512
4 DPAGT1 NM_001382.3(DPAGT1): c.324G> C (p.Met108Ile) single nucleotide variant Pathogenic rs376039938 GRCh38 Chromosome 11, 119100802: 119100802
5 DPAGT1 NM_001382.3(DPAGT1): c.699dupC (p.Thr234Hisfs) duplication Pathogenic rs397515321 GRCh37 Chromosome 11, 118969142: 118969142
6 DPAGT1 NM_001382.3(DPAGT1): c.699dupC (p.Thr234Hisfs) duplication Pathogenic rs397515321 GRCh38 Chromosome 11, 119098432: 119098432
7 DPAGT1 NM_001382.3(DPAGT1): c.358C> A (p.Leu120Met) single nucleotide variant Pathogenic rs387907244 GRCh37 Chromosome 11, 118971478: 118971478
8 DPAGT1 NM_001382.3(DPAGT1): c.358C> A (p.Leu120Met) single nucleotide variant Pathogenic rs387907244 GRCh38 Chromosome 11, 119100768: 119100768
9 DPAGT1 NM_001382.3(DPAGT1): c.791T> G (p.Val264Gly) single nucleotide variant Pathogenic rs387907245 GRCh37 Chromosome 11, 118968691: 118968691
10 DPAGT1 NM_001382.3(DPAGT1): c.791T> G (p.Val264Gly) single nucleotide variant Pathogenic rs387907245 GRCh38 Chromosome 11, 119097981: 119097981
11 DPAGT1; HMBS NM_001382.3(DPAGT1): c.994T> G (p.Phe332Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138544311 GRCh37 Chromosome 11, 118968185: 118968185
12 DPAGT1; HMBS NM_001382.3(DPAGT1): c.994T> G (p.Phe332Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138544311 GRCh38 Chromosome 11, 119097475: 119097475
13 DPAGT1 NM_001382.3(DPAGT1): c.918-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201656540 GRCh37 Chromosome 11, 118968265: 118968265
14 DPAGT1 NM_001382.3(DPAGT1): c.918-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201656540 GRCh38 Chromosome 11, 119097555: 119097555
15 DPAGT1 NM_001382.3(DPAGT1): c.125G> A (p.Cys42Tyr) single nucleotide variant Uncertain significance rs375679649 GRCh37 Chromosome 11, 118972241: 118972241
16 DPAGT1 NM_001382.3(DPAGT1): c.125G> A (p.Cys42Tyr) single nucleotide variant Uncertain significance rs375679649 GRCh38 Chromosome 11, 119101531: 119101531
17 DPAGT1 NM_001382.3(DPAGT1): c.729-4A> C single nucleotide variant Benign/Likely benign rs199873583 GRCh38 Chromosome 11, 119098047: 119098047
18 DPAGT1 NM_001382.3(DPAGT1): c.729-4A> C single nucleotide variant Benign/Likely benign rs199873583 GRCh37 Chromosome 11, 118968757: 118968757
19 DPAGT1 NM_001382.3(DPAGT1): c.243C> T (p.Cys81=) single nucleotide variant Likely benign rs138519099 GRCh37 Chromosome 11, 118971767: 118971767
20 DPAGT1 NM_001382.3(DPAGT1): c.243C> T (p.Cys81=) single nucleotide variant Likely benign rs138519099 GRCh38 Chromosome 11, 119101057: 119101057
21 DPAGT1 NM_001382.3(DPAGT1): c.918-8C> T single nucleotide variant Likely benign rs531346717 GRCh37 Chromosome 11, 118968269: 118968269
22 DPAGT1 NM_001382.3(DPAGT1): c.918-8C> T single nucleotide variant Likely benign rs531346717 GRCh38 Chromosome 11, 119097559: 119097559
23 DPAGT1 NM_001382.3(DPAGT1): c.1007T> C (p.Val336Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118968006: 118968006
24 DPAGT1 NM_001382.3(DPAGT1): c.1007T> C (p.Val336Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119097296: 119097296
25 DPAGT1 NM_001382.3(DPAGT1): c.423C> G (p.Phe141Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118971413: 118971413
26 DPAGT1 NM_001382.3(DPAGT1): c.423C> G (p.Phe141Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119100703: 119100703
27 DPAGT1 NM_001382.3(DPAGT1): c.330C> T (p.Phe110=) single nucleotide variant Likely benign rs199994118 GRCh38 Chromosome 11, 119100796: 119100796
28 DPAGT1 NM_001382.3(DPAGT1): c.330C> T (p.Phe110=) single nucleotide variant Likely benign rs199994118 GRCh37 Chromosome 11, 118971506: 118971506
29 DPAGT1 NM_001382.3(DPAGT1): c.448G> A (p.Val150Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118971388: 118971388
30 DPAGT1 NM_001382.3(DPAGT1): c.448G> A (p.Val150Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119100678: 119100678
31 DPAGT1 NM_001382.3(DPAGT1): c.161+6C> T single nucleotide variant Uncertain significance rs762402071 GRCh38 Chromosome 11, 119101489: 119101489
32 DPAGT1 NM_001382.3(DPAGT1): c.161+6C> T single nucleotide variant Uncertain significance rs762402071 GRCh37 Chromosome 11, 118972199: 118972199
33 DPAGT1 NM_001382.3(DPAGT1): c.976C> G (p.Leu326Val) single nucleotide variant Uncertain significance rs755527720 GRCh37 Chromosome 11, 118968203: 118968203
34 DPAGT1 NM_001382.3(DPAGT1): c.976C> G (p.Leu326Val) single nucleotide variant Uncertain significance rs755527720 GRCh38 Chromosome 11, 119097493: 119097493

Expression for Myasthenic Syndrome, Congenital, 13

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 13.

Pathways for Myasthenic Syndrome, Congenital, 13

Pathways related to Myasthenic Syndrome, Congenital, 13 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 CASP3 DIABLO XIAP
2 12.45 CASP3 HSP90B1 XIAP
3
Show member pathways
12.41 CASP3 DIABLO XIAP
4
Show member pathways
12.28 CASP3 DIABLO XIAP
5
Show member pathways
12.22 CASP3 DIABLO XIAP
6 11.81 CASP3 DIABLO XIAP
7
Show member pathways
11.76 CASP3 DIABLO XIAP
8 11.74 CASP3 HSP90B1 XIAP
9 11.54 CASP3 XIAP
10
Show member pathways
11.53 CASP3 DIABLO XIAP
11
Show member pathways
11.47 CASP3 DIABLO
12 11.37 CASP3 XIAP
13
Show member pathways
11.3 CASP3 DIABLO
14
Show member pathways
11.26 CASP3 DIABLO XIAP
15 11.17 CASP3 XIAP
16 10.73 CASP3 DIABLO XIAP
17
Show member pathways
10.25 CASP3 DIABLO XIAP

GO Terms for Myasthenic Syndrome, Congenital, 13

Biological processes related to Myasthenic Syndrome, Congenital, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.43 CASP3 DIABLO XIAP
2 negative regulation of apoptotic process GO:0043066 9.33 CASP3 HSP90B1 XIAP
3 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 8.96 CASP3 DIABLO
4 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008635 8.62 CASP3 DIABLO

Sources for Myasthenic Syndrome, Congenital, 13

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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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
Content
Loading form....