MCID: CNG113
MIFTS: 22

Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency

Categories: Rare diseases

Aliases & Classifications for Congenital Myasthenic Syndrome Associated with Acetylcholine...

MalaCards integrated aliases for Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency:

Name: Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 20
Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency 20 6

Classifications:



Summaries for Congenital Myasthenic Syndrome Associated with Acetylcholine...

MalaCards based summary : Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency, also known as myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, is related to myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency and myasthenic syndrome, congenital, 4b, fast-channel. An important gene associated with Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency is C17orf107 (Chromosome 17 Open Reading Frame 107), and among its related pathways/superpathways is Agrin Interactions at Neuromuscular Junction. Related phenotypes are muscle and respiratory system

Related Diseases for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Diseases related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 31.0 RAPSN MUSK CHRNE CHAT C17orf107
2 myasthenic syndrome, congenital, 4b, fast-channel 10.0 CHRNE C17orf107
3 myasthenic syndrome, congenital, 1b, fast-channel 10.0 CHRNE C17orf107
4 myasthenic syndrome, congenital, 4a, slow-channel 10.0 CHRNE C17orf107
5 slow-channel congenital myasthenic syndrome 10.0 CHRNE C17orf107
6 myasthenic syndrome, congenital, 21, presynaptic 9.7 RAPSN CHAT
7 myasthenic syndrome, congenital, 13 9.7 RAPSN CHRNE
8 cenani-lenz syndactyly syndrome 9.7 RAPSN MUSK
9 autoimmune disease of peripheral nervous system 9.6 RAPSN MUSK
10 multiple pterygium syndrome, escobar variant 9.6 RAPSN CHRNE
11 polyhydramnios 9.6 RAPSN MUSK
12 fetal akinesia deformation sequence 1 9.5 RAPSN MUSK
13 postsynaptic congenital myasthenic syndromes 9.5 RAPSN MUSK CHRNE
14 myasthenic syndrome, congenital, 19 9.5 RAPSN MUSK CHAT
15 muscular dystrophy, congenital, lmna-related 9.5 RAPSN CHRNE
16 ocular motility disease 9.5 RAPSN MUSK CHRNE
17 myasthenia gravis 9.4 RAPSN MUSK CHRNE
18 neuromuscular junction disease 9.2 RAPSN MUSK CHRNE CHAT
19 ptosis 9.2 RAPSN MUSK CHRNE CHAT
20 neuromuscular disease 9.2 RAPSN MUSK CHRNE CHAT
21 peripheral nervous system disease 9.2 RAPSN MUSK CHRNE CHAT
22 congenital myasthenic syndrome 9.0 RAPSN MUSK CHRNE CHAT C17orf107

Graphical network of the top 20 diseases related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency:



Diseases related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency

Symptoms & Phenotypes for Congenital Myasthenic Syndrome Associated with Acetylcholine...

MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.26 CHAT CHRNE MUSK RAPSN
2 respiratory system MP:0005388 8.92 CHAT CHRNE MUSK RAPSN

Drugs & Therapeutics for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Search Clinical Trials , NIH Clinical Center for Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency

Genetic Tests for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Anatomical Context for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Publications for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Articles related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency:

(show all 29)
# Title Authors PMID Year
1
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. 6
21305573 2011
2
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. 6
20157724 2010
3
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 6
19620612 2009
4
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. 6
19064877 2008
5
Unusual features in a boy with the rapsyn N88K mutation. 6
17190963 2006
6
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. 6
16945936 2006
7
Splicing abnormalities in congenital myasthenic syndromes. 6
16550914 2005
8
An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. 6
16087917 2005
9
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. 6
15482960 2004
10
Mutation history of the roma/gypsies. 6
15322984 2004
11
Congenital myasthenic syndromes. 6
15367858 2004
12
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 6
15328566 2004
13
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 6
15036330 2004
14
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation. 6
14659409 2004
15
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 6
12796535 2003
16
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. 6
12807980 2003
17
Identification of pathogenic mutations in the human rapsyn gene. 6
12730725 2003
18
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 6
11791205 2002
19
Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. 6
11030414 2000
20
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. 6
10534268 1999
21
Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. 6
10514102 1999
22
Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene. 6
10496269 1999
23
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. 6
10211467 1999
24
A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency. 6
9668239 1998
25
Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency. 6
9443457 1998
26
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. 6
9158150 1997
27
Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. 6
9097970 1997
28
End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. 6
8957026 1996
29
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. 6
8755487 1996

Variations for Congenital Myasthenic Syndrome Associated with Acetylcholine...

ClinVar genetic disease variations for Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency:

6 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRNE , C17orf107 NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) SNV Pathogenic 18345 rs121909514 GRCh37: 17:4805227-4805227
GRCh38: 17:4901932-4901932
2 CHRNE , C17orf107 NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter) SNV Pathogenic 18347 rs121909513 GRCh37: 17:4805606-4805606
GRCh38: 17:4902311-4902311
3 CHRNE NM_000080.4(CHRNE):c.971del (p.Ile324fs) Deletion Pathogenic 18348 rs879255562 GRCh37: 17:4802824-4802824
GRCh38: 17:4899529-4899529
4 CHRNE , C17orf107 NM_000080.4(CHRNE):c.344+1G>A SNV Pathogenic 18349 rs879253722 GRCh37: 17:4805511-4805511
GRCh38: 17:4902216-4902216
5 CHRNE NM_000080.4(CHRNE):c.1030del (p.His344fs) Deletion Pathogenic 18350 rs879253723 GRCh37: 17:4802765-4802765
GRCh38: 17:4899470-4899470
6 CHRNE NM_000080.4(CHRNE):c.-11-85C>T SNV Pathogenic 18353 rs748144899 GRCh37: 17:4806454-4806454
GRCh38: 17:4903159-4903159
7 CHRNE NM_000080.4(CHRNE):c.1327del Deletion Pathogenic 243031 rs763258280 GRCh37: 17:4802186-4802186
GRCh38: 17:4898891-4898891
8 CHRNE NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter) Insertion Pathogenic 18355 rs886037628 GRCh37: 17:4802550-4802551
GRCh38: 17:4899255-4899256
9 CHRNE , C17orf107 NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) Deletion Pathogenic 18357 rs753828284 GRCh37: 17:4804467-4804473
GRCh38: 17:4901172-4901178
10 CHRNE NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) SNV Pathogenic 18358 rs121909515 GRCh37: 17:4802804-4802804
GRCh38: 17:4899509-4899509
11 CHRNE , C17orf107 NM_000080.4(CHRNE):c.501-16G>A SNV Pathogenic 18362 rs879255563 GRCh37: 17:4804936-4804936
GRCh38: 17:4901641-4901641
12 CHRNE NM_000080.4(CHRNE):c.1033-2A>T SNV Pathogenic 189225 rs786204773 GRCh37: 17:4802681-4802681
GRCh38: 17:4899386-4899386
13 MUSK NM_005592.4(MUSK):c.79+2T>G SNV Pathogenic 211542 rs200783529 GRCh37: 9:113431265-113431265
GRCh38: 9:110668985-110668985
14 CHRNE NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs) Deletion Pathogenic 623392 rs1567636493 GRCh37: 17:4802613-4802631
GRCh38: 17:4899318-4899336
15 RAPSN NM_005055.5(RAPSN):c.193-2A>C SNV Pathogenic 813472 rs1595902947 GRCh37: 11:47469704-47469704
GRCh38: 11:47448152-47448152
16 CHRNE , C17orf107 NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) SNV Pathogenic 282036 rs144169073 GRCh37: 17:4806002-4806002
GRCh38: 17:4902707-4902707
17 RAPSN NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) SNV Pathogenic 8046 rs104894299 GRCh37: 11:47469631-47469631
GRCh38: 11:47448079-47448079
18 CHRNE NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) Duplication Pathogenic 243032 rs773526895 GRCh37: 17:4802159-4802160
GRCh38: 17:4898864-4898865
19 CHRNE NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) SNV Likely pathogenic 18359 rs372635387 GRCh37: 17:4806322-4806322
GRCh38: 17:4903027-4903027
20 CHRNE , C17orf107 NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) SNV Likely pathogenic 18360 rs121909516 GRCh37: 17:4805239-4805239
GRCh38: 17:4901944-4901944
21 CHAT NM_020549.4(CHAT):c.982del (p.Asp328fs) Deletion Likely pathogenic 813415 rs1590576560 GRCh37: 10:50835698-50835698
GRCh38: 10:49627652-49627652
22 CHAT NM_020549.4(CHAT):c.1715C>A (p.Ser572Ter) SNV Likely pathogenic 813416 rs753652169 GRCh37: 10:50863221-50863221
GRCh38: 10:49655175-49655175
23 CHRNE NM_000080.4(CHRNE):c.1326+1G>A SNV Likely pathogenic 488482 rs1430654625 GRCh37: 17:4802295-4802295
GRCh38: 17:4899000-4899000
24 RAPSN NM_005055.5(RAPSN):c.524A>G (p.Gln175Arg) SNV Likely pathogenic 242500 rs863224912 GRCh37: 11:47469371-47469371
GRCh38: 11:47447819-47447819
25 MUSK NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) SNV Likely pathogenic 211541 rs375737188 GRCh37: 9:113457698-113457698
GRCh38: 9:110695418-110695418
26 CHRNB1 NM_000747.3(CHRNB1):c.531G>A (p.Ser177=) SNV Uncertain significance 325078 rs886053393 GRCh37: 17:7350890-7350890
GRCh38: 17:7447571-7447571
27 CHRNB1 NM_000747.3(CHRNB1):c.305G>C (p.Arg102Pro) SNV Uncertain significance 325076 rs201915086 GRCh37: 17:7350213-7350213
GRCh38: 17:7446894-7446894
28 CHRNB1 NM_000747.3(CHRNB1):c.*71C>T SNV Uncertain significance 325110 rs886053405 GRCh37: 17:7360113-7360113
GRCh38: 17:7456794-7456794
29 CHRNB1 NM_000747.3(CHRNB1):c.342G>A (p.Val114=) SNV Uncertain significance 197164 rs75019736 GRCh37: 17:7350250-7350250
GRCh38: 17:7446931-7446931
30 CHRNB1 NM_000747.3(CHRNB1):c.-19C>T SNV Uncertain significance 325072 rs550926134 GRCh37: 17:7348428-7348428
GRCh38: 17:7445109-7445109
31 CHRNB1 NM_000747.3(CHRNB1):c.*18C>T SNV Uncertain significance 256770 rs79747991 GRCh37: 17:7360060-7360060
GRCh38: 17:7456741-7456741
32 CHRNB1 NM_000747.3(CHRNB1):c.565G>A (p.Gly189Arg) SNV Uncertain significance 325079 rs555348704 GRCh37: 17:7350924-7350924
GRCh38: 17:7447605-7447605
33 CHRNB1 NM_000747.3(CHRNB1):c.*778C>T SNV Uncertain significance 325116 rs556525486 GRCh37: 17:7360820-7360820
GRCh38: 17:7457501-7457501
34 CHRNB1 NM_000747.3(CHRNB1):c.903C>T (p.Thr301=) SNV Uncertain significance 325101 rs117168441 GRCh37: 17:7357698-7357698
GRCh38: 17:7454379-7454379
35 CHRNB1 NM_000747.3(CHRNB1):c.680G>A (p.Gly227Glu) SNV Uncertain significance 325092 rs886053399 GRCh37: 17:7351967-7351967
GRCh38: 17:7448648-7448648
36 CHRNB1 NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala) SNV Uncertain significance 325107 rs202144045 GRCh37: 17:7359120-7359120
GRCh38: 17:7455801-7455801
37 CHRNB1 NM_000747.3(CHRNB1):c.1087C>A (p.Pro363Thr) SNV Uncertain significance 325104 rs886053402 GRCh37: 17:7358645-7358645
GRCh38: 17:7455326-7455326
38 CHRNB1 NM_000747.3(CHRNB1):c.*31C>T SNV Uncertain significance 325108 rs75282248 GRCh37: 17:7360073-7360073
GRCh38: 17:7456754-7456754
39 CHRNB1 NM_000747.3(CHRNB1):c.*136T>C SNV Uncertain significance 325111 rs182995220 GRCh37: 17:7360178-7360178
GRCh38: 17:7456859-7456859
40 CHRNB1 NM_000747.3(CHRNB1):c.278C>G (p.Ala93Gly) SNV Uncertain significance 325075 rs753646145 GRCh37: 17:7350186-7350186
GRCh38: 17:7446867-7446867
41 CHRNB1 NM_000747.3(CHRNB1):c.354-3C>T SNV Uncertain significance 325077 rs886053392 GRCh37: 17:7350359-7350359
GRCh38: 17:7447040-7447040
42 CHRNB1 NM_000747.3(CHRNB1):c.*749C>T SNV Uncertain significance 325114 rs760896819 GRCh37: 17:7360791-7360791
GRCh38: 17:7457472-7457472
43 CHRNB1 NM_000747.3(CHRNB1):c.*843G>C SNV Uncertain significance 325117 rs886053406 GRCh37: 17:7360885-7360885
GRCh38: 17:7457566-7457566
44 CHRNB1 NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala) SNV Uncertain significance 523042 rs759668768 GRCh37: 17:7348697-7348697
GRCh38: 17:7445378-7445378
45 CHRNE , C17orf107 NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) SNV Uncertain significance 323995 rs148370803 GRCh37: 17:4804915-4804915
GRCh38: 17:4901620-4901620
46 CHRNB1 NM_000747.3(CHRNB1):c.1044+9G>A SNV Uncertain significance 325103 rs143871421 GRCh37: 17:7357848-7357848
GRCh38: 17:7454529-7454529
47 CHRNB1 NM_000747.3(CHRNB1):c.1218-3C>T SNV Uncertain significance 325106 rs886053404 GRCh37: 17:7359110-7359110
GRCh38: 17:7455791-7455791
48 CHRNE NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys) SNV Uncertain significance 284315 rs757968612 GRCh37: 17:4802670-4802670
GRCh38: 17:4899375-4899375
49 CHRNB1 NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter) SNV Uncertain significance 476151 rs201033437 GRCh37: 17:7350875-7350875
GRCh38: 17:7447556-7447556
50 CHRNB1 NM_000747.3(CHRNB1):c.605dup (p.Ile203fs) Duplication Uncertain significance 631787 rs1447564693 GRCh37: 17:7350961-7350962
GRCh38: 17:7447642-7447643

Expression for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Search GEO for disease gene expression data for Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency.

Pathways for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Pathways related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.38 RAPSN MUSK

GO Terms for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Cellular components related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.46 RAPSN MUSK CHRNE CHAT
2 cell junction GO:0030054 9.43 RAPSN MUSK CHRNE
3 postsynaptic membrane GO:0045211 9.13 RAPSN MUSK CHRNE
4 neuromuscular junction GO:0031594 8.8 RAPSN MUSK CHRNE

Biological processes related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synaptic transmission, cholinergic GO:0007271 8.62 RAPSN CHRNE

Sources for Congenital Myasthenic Syndrome Associated with Acetylcholine...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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20 GARD
28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
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