CMS13
MCID: MYS075
MIFTS: 34

Myasthenic Syndrome, Congenital, 13 (CMS13)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal 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:
slowly progressive
favorable response to acetylcholinesterase inhibitors
onset in childhood (range 0.5 to 7 years)
some patients show improvement in muscle power in the teenage years


HPO:

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


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 fanconi anemia, complementation group f. 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. Affiliated tissues include eye, and 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
Skeletal Spine:
scoliosis

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

Laboratory Abnormalities:
hypoglycosylated serum transferrin

Muscle Soft Tissue:
proximal muscle weakness
hypotonia
tubular aggregates seen on muscle biopsy
decreased achr at the endplate
decreased postsynaptic folding at the neuromuscular junction
more
Head And Neck Eyes:
ptosis, mild (less common)


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 CASP3 DIABLO

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

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 13:

41
Eye

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 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPAGT1 NM_001382.3(DPAGT1): c.509A> G (p.Tyr170Cys) single nucleotide variant Uncertain significance rs28934876 GRCh37 Chromosome 11, 118971106: 118971106
2 DPAGT1 NM_001382.3(DPAGT1): c.509A> G (p.Tyr170Cys) single nucleotide variant Uncertain significance rs28934876 GRCh38 Chromosome 11, 119100396: 119100396
3 DPAGT1 NM_001382.3(DPAGT1): c.349G> A (p.Val117Ile) single nucleotide variant Pathogenic rs387907243 GRCh37 Chromosome 11, 118971487: 118971487
4 DPAGT1 NM_001382.3(DPAGT1): c.349G> A (p.Val117Ile) single nucleotide variant Pathogenic rs387907243 GRCh38 Chromosome 11, 119100777: 119100777
5 DPAGT1 NM_001382.3(DPAGT1): c.324G> C (p.Met108Ile) single nucleotide variant Pathogenic rs376039938 GRCh37 Chromosome 11, 118971512: 118971512
6 DPAGT1 NM_001382.3(DPAGT1): c.324G> C (p.Met108Ile) single nucleotide variant Pathogenic rs376039938 GRCh38 Chromosome 11, 119100802: 119100802
7 DPAGT1 NM_001382.3(DPAGT1): c.699dupC (p.Thr234Hisfs) duplication Pathogenic rs397515321 GRCh37 Chromosome 11, 118969142: 118969142
8 DPAGT1 NM_001382.3(DPAGT1): c.699dupC (p.Thr234Hisfs) duplication Pathogenic rs397515321 GRCh38 Chromosome 11, 119098432: 119098432
9 DPAGT1 NM_001382.3(DPAGT1): c.358C> A (p.Leu120Met) single nucleotide variant Pathogenic rs387907244 GRCh37 Chromosome 11, 118971478: 118971478
10 DPAGT1 NM_001382.3(DPAGT1): c.358C> A (p.Leu120Met) single nucleotide variant Pathogenic rs387907244 GRCh38 Chromosome 11, 119100768: 119100768
11 DPAGT1 NM_001382.3(DPAGT1): c.791T> G (p.Val264Gly) single nucleotide variant Pathogenic rs387907245 GRCh37 Chromosome 11, 118968691: 118968691
12 DPAGT1 NM_001382.3(DPAGT1): c.791T> G (p.Val264Gly) single nucleotide variant Pathogenic rs387907245 GRCh38 Chromosome 11, 119097981: 119097981
13 DPAGT1; HMBS NM_001382.3(DPAGT1): c.994T> G (p.Phe332Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138544311 GRCh37 Chromosome 11, 118968185: 118968185
14 DPAGT1; HMBS NM_001382.3(DPAGT1): c.994T> G (p.Phe332Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138544311 GRCh38 Chromosome 11, 119097475: 119097475
15 DPAGT1 NM_001382.3(DPAGT1): c.918-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201656540 GRCh37 Chromosome 11, 118968265: 118968265
16 DPAGT1 NM_001382.3(DPAGT1): c.918-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201656540 GRCh38 Chromosome 11, 119097555: 119097555
17 DPAGT1 NM_001382.3(DPAGT1): c.125G> A (p.Cys42Tyr) single nucleotide variant Uncertain significance rs375679649 GRCh37 Chromosome 11, 118972241: 118972241
18 DPAGT1 NM_001382.3(DPAGT1): c.125G> A (p.Cys42Tyr) single nucleotide variant Uncertain significance rs375679649 GRCh38 Chromosome 11, 119101531: 119101531
19 DPAGT1 NM_001382.3(DPAGT1): c.729-4A> C single nucleotide variant Benign/Likely benign rs199873583 GRCh37 Chromosome 11, 118968757: 118968757
20 DPAGT1 NM_001382.3(DPAGT1): c.729-4A> C single nucleotide variant Benign/Likely benign rs199873583 GRCh38 Chromosome 11, 119098047: 119098047
21 DPAGT1 NM_001382.3(DPAGT1): c.1A> C (p.Met1Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1057521151 GRCh37 Chromosome 11, 118972365: 118972365
22 DPAGT1 NM_001382.3(DPAGT1): c.1A> C (p.Met1Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1057521151 GRCh38 Chromosome 11, 119101655: 119101655
23 DPAGT1 NM_001382.3(DPAGT1): c.243C> T (p.Cys81=) single nucleotide variant Likely benign rs138519099 GRCh37 Chromosome 11, 118971767: 118971767
24 DPAGT1 NM_001382.3(DPAGT1): c.243C> T (p.Cys81=) single nucleotide variant Likely benign rs138519099 GRCh38 Chromosome 11, 119101057: 119101057
25 DPAGT1 NM_001382.3(DPAGT1): c.918-8C> T single nucleotide variant Likely benign rs531346717 GRCh37 Chromosome 11, 118968269: 118968269
26 DPAGT1 NM_001382.3(DPAGT1): c.918-8C> T single nucleotide variant Likely benign rs531346717 GRCh38 Chromosome 11, 119097559: 119097559
27 DPAGT1 NM_001382.3(DPAGT1): c.1007T> C (p.Val336Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118968006: 118968006
28 DPAGT1 NM_001382.3(DPAGT1): c.1007T> C (p.Val336Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119097296: 119097296
29 DPAGT1 NM_001382.3(DPAGT1): c.423C> G (p.Phe141Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118971413: 118971413
30 DPAGT1 NM_001382.3(DPAGT1): c.423C> G (p.Phe141Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119100703: 119100703
31 DPAGT1 NM_001382.3(DPAGT1): c.330C> T (p.Phe110=) single nucleotide variant Likely benign rs199994118 GRCh38 Chromosome 11, 119100796: 119100796
32 DPAGT1 NM_001382.3(DPAGT1): c.330C> T (p.Phe110=) single nucleotide variant Likely benign rs199994118 GRCh37 Chromosome 11, 118971506: 118971506
33 DPAGT1 NM_001382.3(DPAGT1): c.448G> A (p.Val150Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118971388: 118971388
34 DPAGT1 NM_001382.3(DPAGT1): c.448G> A (p.Val150Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119100678: 119100678
35 DPAGT1 NM_001382.3(DPAGT1): c.161+6C> T single nucleotide variant Uncertain significance rs762402071 GRCh37 Chromosome 11, 118972199: 118972199
36 DPAGT1 NM_001382.3(DPAGT1): c.161+6C> T single nucleotide variant Uncertain significance rs762402071 GRCh38 Chromosome 11, 119101489: 119101489
37 DPAGT1 NM_001382.3(DPAGT1): c.976C> G (p.Leu326Val) single nucleotide variant Uncertain significance rs755527720 GRCh37 Chromosome 11, 118968203: 118968203
38 DPAGT1 NM_001382.3(DPAGT1): c.976C> G (p.Leu326Val) single nucleotide variant Uncertain significance rs755527720 GRCh38 Chromosome 11, 119097493: 119097493
39 DPAGT1 NM_001382.3(DPAGT1): c.250A> C (p.Lys84Gln) single nucleotide variant Uncertain significance rs112355069 GRCh38 Chromosome 11, 119101050: 119101050
40 DPAGT1 NM_001382.3(DPAGT1): c.250A> C (p.Lys84Gln) single nucleotide variant Uncertain significance rs112355069 GRCh37 Chromosome 11, 118971760: 118971760
41 DPAGT1 NM_001382.3(DPAGT1): c.26dup (p.Met9Ilefs) duplication Pathogenic GRCh37 Chromosome 11, 118972340: 118972340
42 DPAGT1 NM_001382.3(DPAGT1): c.26dup (p.Met9Ilefs) duplication Pathogenic GRCh38 Chromosome 11, 119101630: 119101630
43 DPAGT1 NM_001382.3(DPAGT1): c.361C> T (p.Arg121Cys) single nucleotide variant Uncertain significance rs746187785 GRCh37 Chromosome 11, 118971475: 118971475
44 DPAGT1 NM_001382.3(DPAGT1): c.361C> T (p.Arg121Cys) single nucleotide variant Uncertain significance rs746187785 GRCh38 Chromosome 11, 119100765: 119100765
45 DPAGT1 NM_001382.3(DPAGT1): c.790G> A (p.Val264Met) single nucleotide variant Uncertain significance rs745872044 GRCh38 Chromosome 11, 119097982: 119097982
46 DPAGT1 NM_001382.3(DPAGT1): c.790G> A (p.Val264Met) single nucleotide variant Uncertain significance rs745872044 GRCh37 Chromosome 11, 118968692: 118968692
47 DPAGT1 NM_001382.3(DPAGT1): c.360G> C (p.Leu120=) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119100766: 119100766
48 DPAGT1 NM_001382.3(DPAGT1): c.360G> C (p.Leu120=) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118971476: 118971476

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 CASP3 DIABLO XIAP
2 12.44 CASP3 HSP90B1 XIAP
3
Show member pathways
12.4 CASP3 DIABLO XIAP
4
Show member pathways
12.28 CASP3 DIABLO XIAP
5
Show member pathways
12.22 CASP3 DIABLO XIAP
6
Show member pathways
11.86 CASP3 XIAP
7
Show member pathways
11.84 CASP3 DIABLO XIAP
8 11.8 CASP3 HSP90B1
9
Show member pathways
11.79 CASP3 HSP90B1 XIAP
10 11.76 CASP3 DIABLO XIAP
11 11.7 CASP3 HSP90B1 XIAP
12 11.54 CASP3 XIAP
13
Show member pathways
11.53 CASP3 DIABLO XIAP
14
Show member pathways
11.48 CASP3 DIABLO
15 11.4 CASP3 XIAP
16
Show member pathways
11.33 CASP3 DIABLO
17
Show member pathways
11.26 CASP3 DIABLO XIAP
18 11.21 CASP3 XIAP
19 10.73 CASP3 DIABLO XIAP
20
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 response to hypoxia GO:0001666 9.32 CASP3 HSP90B1
3 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.16 CASP3 DIABLO
4 negative regulation of apoptotic process GO:0043066 9.13 CASP3 HSP90B1 XIAP
5 neuron apoptotic process GO:0051402 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
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