CMS13
MCID: MYS075
MIFTS: 40

Myasthenic Syndrome, Congenital, 13 (CMS13)

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 13

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 13:

Name: Myasthenic Syndrome, Congenital, 13 57 72
Congenital Myasthenic Syndrome 13 12 29 6 15
Myasthenic Syndrome, Congenital, with Tubular Aggregates 2 57 13 70
Cmsta2 57 12 72
Cms13 57 12 72
Myasthenic Syndrome, Congenital, 13, with Tubular Aggregates 57 29
Myasthenic Syndrome, Congenital, with Tubular Aggregates 2; Cmsta2 57
Myasthenic Syndrome, Congenital, with Tubular Aggregates, Type 2 39
Myasthenic Syndrome, Congenital, with Tubular Aggregates, 2 72
Congenital Myasthenic Syndrome 13 with Tubular Aggregates 12
Congenital Myasthenic Syndrome with Tubular Aggregates 2 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
myasthenic syndrome, congenital, 13:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110676
OMIM® 57 614750
OMIM Phenotypic Series 57 PS601462 PS610542
MeSH 44 D020294
MedGen 41 C3553645
UMLS 70 C3553645

Summaries for Myasthenic Syndrome, Congenital, 13

UniProtKB/Swiss-Prot : 72 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 myasthenic syndrome, congenital, 14 and third cranial nerve disease. An important gene associated with Myasthenic Syndrome, Congenital, 13 is DPAGT1 (Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1), and among its related pathways/superpathways are Acetylcholine Binding And Downstream Events and Agrin Interactions at Neuromuscular Junction. Related phenotypes are scoliosis and ptosis

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) (Updated 05-Apr-2021)

Related Diseases for Myasthenic Syndrome, Congenital, 13

Diseases in the Congenital Myasthenic Syndrome family:

Myasthenic Syndrome, Congenital, 10 Myasthenic Syndrome, Congenital, 5
Myasthenic Syndrome, Congenital, 12 Myasthenic Syndrome, Congenital, 16
Myasthenic Syndrome, Congenital, 13 Myasthenic Syndrome, Congenital, 8
Myasthenic Syndrome, Congenital, 22 Myasthenic Syndrome, Congenital, 15
Myasthenic Syndrome, Congenital, 14 Myasthenic Syndrome, Congenital, 17
Myasthenic Syndrome, Congenital, 18 Myasthenic Syndrome, Congenital, 19

Diseases related to Myasthenic Syndrome, Congenital, 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 14 10.1 CHRND CHRNB1
2 third cranial nerve disease 10.1 COLQ CHRNE
3 oculomotor nerve paralysis 10.1 COLQ CHRNE
4 combined oxidative phosphorylation deficiency 6 10.1 CHRND CHRNB1
5 paramyotonia congenita of von eulenburg 10.0 CHRNE CHRND CHRNB1
6 cystic lymphangioma 10.0 CHRND CHRNA1
7 myasthenic syndrome, congenital, 1a, slow-channel 9.9 CHRND CHRNB1 CHRNA1
8 myasthenic syndrome, congenital, 1b, fast-channel 9.8 CHRNE CHRND CHRNA1
9 tobacco addiction 9.8 CHRND CHRNB1 CHRNA1
10 sclerosteosis 2 9.8 RAPSN DOK7
11 myasthenic syndrome, congenital, 19 9.7 RAPSN DOK7
12 cenani-lenz syndactyly syndrome 9.7 RAPSN DOK7
13 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 9.7 RAPSN CHRNE
14 oligohydramnios 9.7 CHRND CHRNA1
15 slow-channel congenital myasthenic syndrome 9.7 CHRNE CHRND CHRNB1 CHRNA1
16 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 9.7 RAPSN CHRNE
17 ocular motility disease 9.6 RAPSN COLQ CHRNE
18 hydrops fetalis, nonimmune 9.6 RAPSN CHRNA1
19 multiple pterygium syndrome, lethal type 9.6 RAPSN CHRND CHRNA1
20 myasthenic syndrome, congenital, 5 9.6 RAPSN DOK7 COLQ
21 myasthenia gravis 9.5 RAPSN CHRNE CHRNA1
22 myasthenic syndrome, congenital, 21, presynaptic 9.4 RAPSN DPAGT1 DOK7 COLQ
23 muscular dystrophy, congenital, lmna-related 9.4 RAPSN DOK7 COLQ CHRNE
24 peripheral nervous system disease 9.3 RAPSN DOK7 COLQ CHRNE
25 fetal akinesia deformation sequence 1 9.1 RAPSN DOK7 CHRND CHRNB1 CHRNA1
26 postsynaptic congenital myasthenic syndromes 8.9 RAPSN DOK7 CHRNE CHRND CHRNB1 CHRNA1
27 multiple pterygium syndrome, escobar variant 8.9 RAPSN DOK7 CHRNE CHRND CHRNB1 CHRNA1
28 ptosis 8.7 RAPSN DOK7 COLQ CHRNE CHRND CHRNB1
29 neuromuscular junction disease 8.5 RAPSN DPAGT1 DOK7 COLQ CHRNE CHRND
30 neuromuscular disease 8.5 RAPSN DPAGT1 DOK7 COLQ CHRNE CHRND
31 congenital myasthenic syndrome 8.4 RAPSN PURPL DPAGT1 DOK7 COLQ CHRNE

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 13:



Diseases related to Myasthenic Syndrome, Congenital, 13

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 13

Human phenotypes related to Myasthenic Syndrome, Congenital, 13:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 ptosis 31 very rare (1%) HP:0000508
3 proximal muscle weakness 31 very rare (1%) HP:0003701
4 muscle fiber tubular inclusions 31 very rare (1%) HP:0100301
5 increased jitter at single fiber emg 31 very rare (1%) HP:0030205
6 motor delay 31 HP:0001270
7 fatigable weakness 31 HP:0003473
8 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 31 HP:0003403
9 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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
2 Myasthenic Syndrome, Congenital, 13, with Tubular Aggregates 29

Anatomical Context for Myasthenic Syndrome, Congenital, 13

Publications for Myasthenic Syndrome, Congenital, 13

Articles related to Myasthenic Syndrome, Congenital, 13:

# Title Authors PMID Year
1
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. 6 57
22742743 2012
2
Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management. 6
31153949 2019
3
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design. 6
30388443 2018
4
Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'. 57
16870884 2006
5
Rejection of parental meth-a tumor on concomitant inoculation of meth-a cells infected retrovirally with the interferon-gamma gene into (balb/cxc57bl/6)f-1 mice. 61
21552829 1995
6
Expression of a shared tumor-specific antigen by two chemically induced BALB/c sarcomas. 61
3497717 1987

Variations for Myasthenic Syndrome, Congenital, 13

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

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DPAGT1 NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile) SNV Pathogenic 36918 rs387907243 GRCh37: 11:118971487-118971487
GRCh38: 11:119100777-119100777
2 DPAGT1 NM_001382.4(DPAGT1):c.699dup (p.Thr234fs) Duplication Pathogenic 36920 rs397515321 GRCh37: 11:118969141-118969142
GRCh38: 11:119098431-119098432
3 DPAGT1 NM_001382.4(DPAGT1):c.358C>A (p.Leu120Met) SNV Pathogenic 36921 rs387907244 GRCh37: 11:118971478-118971478
GRCh38: 11:119100768-119100768
4 DPAGT1 NM_001382.4(DPAGT1):c.791T>G (p.Val264Gly) SNV Pathogenic 36922 rs387907245 GRCh37: 11:118968691-118968691
GRCh38: 11:119097981-119097981
5 DPAGT1 NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter) SNV Pathogenic 640003 rs1315559074 GRCh37: 11:118971438-118971438
GRCh38: 11:119100728-119100728
6 DPAGT1 NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile) SNV Pathogenic 36919 rs376039938 GRCh37: 11:118971512-118971512
GRCh38: 11:119100802-119100802
7 DPAGT1 NM_001382.4(DPAGT1):c.26dup (p.Met9fs) Duplication Pathogenic 567578 rs768656482 GRCh37: 11:118972339-118972340
GRCh38: 11:119101629-119101630
8 DPAGT1 NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) Duplication Pathogenic 521720 rs1185483085 GRCh37: 11:118971440-118971441
GRCh38: 11:119100730-119100731
9 DPAGT1 NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile) SNV Likely pathogenic 36919 rs376039938 GRCh37: 11:118971512-118971512
GRCh38: 11:119100802-119100802
10 DPAGT1 NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) SNV Conflicting interpretations of pathogenicity 547938 rs112355069 GRCh37: 11:118971760-118971760
GRCh38: 11:119101050-119101050
11 DPAGT1 NM_001382.4(DPAGT1):c.360G>C (p.Leu120=) SNV Uncertain significance 565496 rs1555207826 GRCh37: 11:118971476-118971476
GRCh38: 11:119100766-119100766
12 DPAGT1 NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys) SNV Uncertain significance 572825 rs746187785 GRCh37: 11:118971475-118971475
GRCh38: 11:119100765-119100765
13 DPAGT1 NM_001382.4(DPAGT1):c.790G>A (p.Val264Met) SNV Uncertain significance 582259 rs745872044 GRCh37: 11:118968692-118968692
GRCh38: 11:119097982-119097982
14 DPAGT1 NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser) SNV Uncertain significance 634577 rs1565766177 GRCh37: 11:118971813-118971813
GRCh38: 11:119101103-119101103
15 DPAGT1 NM_001382.4(DPAGT1):c.400C>G (p.Leu134Val) SNV Uncertain significance 863766 GRCh37: 11:118971436-118971436
GRCh38: 11:119100726-119100726
16 DPAGT1 NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly) SNV Uncertain significance 941063 GRCh37: 11:118968235-118968235
GRCh38: 11:119097525-119097525
17 DPAGT1 NM_001382.4(DPAGT1):c.917+6C>T SNV Uncertain significance 941441 GRCh37: 11:118968559-118968559
GRCh38: 11:119097849-119097849
18 DPAGT1 NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val) SNV Uncertain significance 942896 GRCh37: 11:118967914-118967914
GRCh38: 11:119097204-119097204
19 DPAGT1 NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val) SNV Uncertain significance 540460 rs755527720 GRCh37: 11:118968203-118968203
GRCh38: 11:119097493-119097493
20 DPAGT1 NM_001382.4(DPAGT1):c.448G>A (p.Val150Met) SNV Uncertain significance 540461 rs1555207796 GRCh37: 11:118971388-118971388
GRCh38: 11:119100678-119100678
21 DPAGT1 NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) SNV Uncertain significance 12296 rs28934876 GRCh37: 11:118971106-118971106
GRCh38: 11:119100396-119100396
22 DPAGT1 NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu) SNV Uncertain significance 643168 rs1328286236 GRCh37: 11:118971366-118971366
GRCh38: 11:119100656-119100656
23 DPAGT1 NM_001382.4(DPAGT1):c.1005+6A>T SNV Uncertain significance 647040 rs1592225596 GRCh37: 11:118968168-118968168
GRCh38: 11:119097458-119097458
24 DPAGT1 NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val) SNV Uncertain significance 651456 rs376322200 GRCh37: 11:118968614-118968614
GRCh38: 11:119097904-119097904
25 DPAGT1 NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln) SNV Uncertain significance 654609 rs368415403 GRCh37: 11:118971477-118971477
GRCh38: 11:119100767-119100767
26 DPAGT1 NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe) SNV Uncertain significance 656894 rs751590922 GRCh37: 11:118969170-118969170
GRCh38: 11:119098460-119098460
27 DPAGT1 NM_001382.4(DPAGT1):c.918-10C>A SNV Uncertain significance 664042 rs764154648 GRCh37: 11:118968271-118968271
GRCh38: 11:119097561-119097561
28 DPAGT1 NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) SNV Uncertain significance 302751 rs375679649 GRCh37: 11:118972241-118972241
GRCh38: 11:119101531-119101531
29 DPAGT1 NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu) SNV Uncertain significance 473242 rs1403883479 GRCh37: 11:118971413-118971413
GRCh38: 11:119100703-119100703
30 DPAGT1 NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala) SNV Uncertain significance 473241 rs1555207196 GRCh37: 11:118968006-118968006
GRCh38: 11:119097296-119097296
31 DPAGT1 NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln) SNV Uncertain significance 838195 GRCh37: 11:118967742-118967742
GRCh38: 11:119097032-119097032
32 DPAGT1 NM_001382.4(DPAGT1):c.495G>A (p.Leu165=) SNV Uncertain significance 848846 GRCh37: 11:118971341-118971341
GRCh38: 11:119100631-119100631
33 DPAGT1 NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser) SNV Uncertain significance 851346 GRCh37: 11:118971041-118971041
GRCh38: 11:119100331-119100331
34 DPAGT1 NM_001382.4(DPAGT1):c.335G>T (p.Gly112Val) SNV Uncertain significance 935087 GRCh37: 11:118971501-118971501
GRCh38: 11:119100791-119100791
35 overlap with 8 genes NC_000011.9:g.(?_118967698)_(119170501_?)dup Duplication Uncertain significance 833331 GRCh37: 11:118967698-119170501
GRCh38:
36 DPAGT1 NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser) SNV Uncertain significance 844095 GRCh37: 11:118972278-118972278
GRCh38: 11:119101568-119101568
37 DPAGT1 NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val) SNV Uncertain significance 1000269 GRCh37: 11:118971373-118971373
GRCh38: 11:119100663-119100663
38 DPAGT1 NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu) SNV Uncertain significance 1001621 GRCh37: 11:118972352-118972352
GRCh38: 11:119101642-119101642
39 DPAGT1 NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg) SNV Uncertain significance 1009921 GRCh37: 11:118967859-118967859
GRCh38: 11:119097149-119097149
40 DPAGT1 NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser) SNV Uncertain significance 1011872 GRCh37: 11:118969146-118969146
GRCh38: 11:119098436-119098436
41 DPAGT1 NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe) SNV Uncertain significance 652219 rs150532554 GRCh37: 11:118967734-118967734
GRCh38: 11:119097024-119097024
42 DPAGT1 NM_001382.4(DPAGT1):c.457A>C (p.Lys153Gln) SNV Uncertain significance 942081 GRCh37: 11:118971379-118971379
GRCh38: 11:119100669-119100669
43 DPAGT1 NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp) SNV Uncertain significance 957811 GRCh37: 11:118968709-118968709
GRCh38: 11:119097999-119097999
44 DPAGT1 NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr) SNV Uncertain significance 965363 GRCh37: 11:118968175-118968175
GRCh38: 11:119097465-119097465
45 overlap with 8 genes NC_000011.9:g.(?_118967698)_(119170501_?)dup Duplication Uncertain significance 1014943 GRCh37: 11:118967698-119170501
GRCh38:
46 DPAGT1 NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe) SNV Uncertain significance 1016245 GRCh37: 11:118969126-118969126
GRCh38: 11:119098416-119098416
47 DPAGT1 NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg) SNV Uncertain significance 1017431 GRCh37: 11:118971835-118971835
GRCh38: 11:119101125-119101125
48 DPAGT1 NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val) SNV Uncertain significance 1018370 GRCh37: 11:118967989-118967989
GRCh38: 11:119097279-119097279
49 DPAGT1 NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp) SNV Uncertain significance 1021954 GRCh37: 11:118968190-118968190
GRCh38: 11:119097480-119097480
50 DPAGT1 NM_001382.4(DPAGT1):c.484C>A (p.His162Asn) SNV Uncertain significance 836721 GRCh37: 11:118971352-118971352
GRCh38: 11:119100642-119100642

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

72
# 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

Expression for Myasthenic Syndrome, Congenital, 13

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

Pathways for Myasthenic Syndrome, Congenital, 13

GO Terms for Myasthenic Syndrome, Congenital, 13

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.03 RAPSN ITGBL1 DOK7 COLQ CHRNE CHRND
2 cell junction GO:0030054 9.87 RAPSN DOK7 COLQ CHRNE CHRND CHRNB1
3 neuron projection GO:0043005 9.71 CHRNE CHRND CHRNB1 CHRNA1
4 synapse GO:0045202 9.7 RAPSN DOK7 COLQ CHRNE CHRND CHRNB1
5 postsynaptic membrane GO:0045211 9.65 RAPSN CHRNE CHRND CHRNB1 CHRNA1
6 integral component of postsynaptic specialization membrane GO:0099060 9.54 CHRND CHRNB1 CHRNA1
7 acetylcholine-gated channel complex GO:0005892 9.26 CHRNE CHRND CHRNB1 CHRNA1
8 neuromuscular junction GO:0031594 9.1 RAPSN COLQ CHRNE CHRND CHRNB1 CHRNA1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.86 CHRNE CHRND CHRNB1 CHRNA1
2 ion transmembrane transport GO:0034220 9.8 CHRNE CHRND CHRNB1 CHRNA1
3 chemical synaptic transmission GO:0007268 9.72 RAPSN CHRNE CHRND CHRNB1 CHRNA1
4 muscle contraction GO:0006936 9.69 CHRNE CHRND CHRNB1
5 regulation of membrane potential GO:0042391 9.67 CHRNE CHRND CHRNB1 CHRNA1
6 cation transport GO:0006812 9.65 CHRND CHRNB1 CHRNA1
7 skeletal muscle contraction GO:0003009 9.58 CHRND CHRNB1 CHRNA1
8 excitatory postsynaptic potential GO:0060079 9.56 CHRNE CHRND CHRNB1 CHRNA1
9 neuromuscular junction development GO:0007528 9.55 DOK7 CHRNA1
10 neuromuscular process GO:0050905 9.54 CHRND CHRNA1
11 neuromuscular synaptic transmission GO:0007274 9.52 CHRNB1 CHRNA1
12 musculoskeletal movement GO:0050881 9.46 CHRND CHRNA1
13 nervous system process GO:0050877 9.46 CHRNE CHRND CHRNB1 CHRNA1
14 skeletal muscle tissue growth GO:0048630 9.43 CHRND CHRNA1
15 regulation of postsynaptic membrane potential GO:0060078 9.26 CHRNE CHRND CHRNB1 CHRNA1
16 synaptic transmission, cholinergic GO:0007271 8.92 RAPSN CHRNE CHRNB1 CHRNA1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.73 CHRNE CHRND CHRNB1 CHRNA1
2 ion channel activity GO:0005216 9.71 CHRNE CHRND CHRNB1 CHRNA1
3 neurotransmitter receptor activity GO:0030594 9.67 CHRNE CHRND CHRNB1 CHRNA1
4 acetylcholine receptor activity GO:0015464 9.5 CHRNE CHRNB1 CHRNA1
5 ligand-gated ion channel activity GO:0015276 9.46 CHRND CHRNB1
6 extracellular ligand-gated ion channel activity GO:0005230 9.46 CHRNE CHRND CHRNB1 CHRNA1
7 acetylcholine binding GO:0042166 9.43 CHRND CHRNB1 CHRNA1
8 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.26 CHRNE CHRND CHRNB1 CHRNA1
9 acetylcholine-gated cation-selective channel activity GO:0022848 8.92 CHRNE CHRND CHRNB1 CHRNA1

Sources for Myasthenic Syndrome, Congenital, 13

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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