MCID: CNG113
MIFTS: 16

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 53
Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency 53 29 13 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 sclerosteosis 2, and has symptoms including muscle cramp, facial paresis and ophthalmoparesis. An important gene associated with Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency is CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit). Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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:

# Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 30.6 CHRNE DOK7 MUSK
2 sclerosteosis 2 9.4 DOK7 MUSK
3 cenani-lenz syndactyly syndrome 9.3 DOK7 MUSK
4 fetal akinesia deformation sequence 9.2 DOK7 MUSK
5 myasthenia gravis 9.2 CHRNE MUSK
6 myopathy, tubular aggregate, 1 9.2 DOK7 GFPT1
7 postsynaptic congenital myasthenic syndromes 8.9 CHRNE DOK7 MUSK
8 neuromuscular junction disease 8.8 CHRNE DOK7 MUSK
9 ptosis 8.8 CHRNE DOK7 MUSK
10 congenital myasthenic syndrome 8.2 CHRNE DOK7 GFPT1 MUSK

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...

UMLS symptoms related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency:


muscle cramp, facial paresis, ophthalmoparesis

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

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.58 GFPT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.58 MUSK
3 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.58 GFPT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.58 GFPT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.58 MUSK
6 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.58 GFPT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.58 MUSK
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.58 GFPT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.58 MUSK
10 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.58 GFPT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.58 MUSK
12 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.58 GFPT1 MUSK
13 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.58 GFPT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 MUSK
15 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.58 GFPT1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.58 MUSK
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 MUSK

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 9.13 CHRNE DOK7 MUSK
2 respiratory system MP:0005388 8.8 CHRNE DOK7 MUSK

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...

Genetic tests related to Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency 29 CHRNE GFPT1

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

Publications for Congenital Myasthenic Syndrome Associated with Acetylcholine...

Variations for Congenital Myasthenic Syndrome Associated with Acetylcholine...

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

6
(show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 DOK7 NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs) duplication Pathogenic rs606231128 GRCh38 Chromosome 4, 3493110: 3493113
2 DOK7 NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs) duplication Pathogenic rs606231128 GRCh37 Chromosome 4, 3494837: 3494840
3 RAPSN NM_005055.4(RAPSN): c.848T> C (p.Leu283Pro) single nucleotide variant Likely pathogenic rs104894293 GRCh37 Chromosome 11, 47463227: 47463227
4 RAPSN NM_005055.4(RAPSN): c.848T> C (p.Leu283Pro) single nucleotide variant Likely pathogenic rs104894293 GRCh38 Chromosome 11, 47441675: 47441675
5 CHRNE NM_000080.3(CHRNE): c.500G> T (p.Arg167Leu) single nucleotide variant Pathogenic rs121909514 GRCh37 Chromosome 17, 4805227: 4805227
6 CHRNE NM_000080.3(CHRNE): c.500G> T (p.Arg167Leu) single nucleotide variant Pathogenic rs121909514 GRCh38 Chromosome 17, 4901932: 4901932
7 CHRNE NM_000080.3(CHRNE): c.250C> T (p.Arg84Ter) single nucleotide variant Pathogenic rs121909513 GRCh37 Chromosome 17, 4805606: 4805606
8 CHRNE NM_000080.3(CHRNE): c.250C> T (p.Arg84Ter) single nucleotide variant Pathogenic rs121909513 GRCh38 Chromosome 17, 4902311: 4902311
9 CHRNE NM_000080.3(CHRNE): c.971delT (p.Ile324Thrfs) deletion Pathogenic rs879255562 GRCh38 Chromosome 17, 4899529: 4899529
10 CHRNE NM_000080.3(CHRNE): c.971delT (p.Ile324Thrfs) deletion Pathogenic rs879255562 GRCh37 Chromosome 17, 4802824: 4802824
11 CHRNE NM_000080.3(CHRNE): c.344+1G> A single nucleotide variant Pathogenic rs879253722 GRCh38 Chromosome 17, 4902216: 4902216
12 CHRNE NM_000080.3(CHRNE): c.344+1G> A single nucleotide variant Pathogenic rs879253722 GRCh37 Chromosome 17, 4805511: 4805511
13 CHRNE NM_000080.3(CHRNE): c.1030delC (p.His344Thrfs) deletion Pathogenic rs879253723 GRCh37 Chromosome 17, 4802765: 4802765
14 CHRNE NM_000080.3(CHRNE): c.1030delC (p.His344Thrfs) deletion Pathogenic rs879253723 GRCh38 Chromosome 17, 4899470: 4899470
15 CHRNE NM_000080.3(CHRNE): c.-96C> T single nucleotide variant Pathogenic rs748144899 GRCh37 Chromosome 17, 4806454: 4806454
16 CHRNE NM_000080.3(CHRNE): c.-96C> T single nucleotide variant Pathogenic rs748144899 GRCh38 Chromosome 17, 4903159: 4903159
17 CHRNE NM_000080.3(CHRNE): c.1161_1162insT (p.Lys388Terfs) insertion Pathogenic rs886037628 GRCh37 Chromosome 17, 4802550: 4802551
18 CHRNE NM_000080.3(CHRNE): c.1161_1162insT (p.Lys388Terfs) insertion Pathogenic rs886037628 GRCh38 Chromosome 17, 4899255: 4899256
19 CHRNE NM_000080.3(CHRNE): c.614_620delGGGCCAT (p.Trp205Serfs) deletion Pathogenic rs753828284 GRCh38 Chromosome 17, 4901172: 4901178
20 CHRNE NM_000080.3(CHRNE): c.614_620delGGGCCAT (p.Trp205Serfs) deletion Pathogenic rs753828284 GRCh37 Chromosome 17, 4804467: 4804473
21 CHRNE NM_000080.3(CHRNE): c.991C> T (p.Arg331Trp) single nucleotide variant Pathogenic rs121909515 GRCh37 Chromosome 17, 4802804: 4802804
22 CHRNE NM_000080.3(CHRNE): c.991C> T (p.Arg331Trp) single nucleotide variant Pathogenic rs121909515 GRCh38 Chromosome 17, 4899509: 4899509
23 CHRNE NM_000080.3(CHRNE): c.501-16G> A single nucleotide variant Pathogenic rs879255563 GRCh37 Chromosome 17, 4804936: 4804936
24 CHRNE NM_000080.3(CHRNE): c.501-16G> A single nucleotide variant Pathogenic rs879255563 GRCh38 Chromosome 17, 4901641: 4901641
25 CHRNE NM_000080.3(CHRNE): c.1033-2A> T single nucleotide variant Pathogenic rs786204773 GRCh37 Chromosome 17, 4802681: 4802681
26 CHRNE NM_000080.3(CHRNE): c.1033-2A> T single nucleotide variant Pathogenic rs786204773 GRCh38 Chromosome 17, 4899386: 4899386
27 RAPSN NM_005055.4(RAPSN): c.737C> T (p.Ala246Val) single nucleotide variant Likely pathogenic rs559933584 GRCh37 Chromosome 11, 47463427: 47463427
28 RAPSN NM_005055.4(RAPSN): c.737C> T (p.Ala246Val) single nucleotide variant Likely pathogenic rs559933584 GRCh38 Chromosome 11, 47441875: 47441875
29 MUSK NM_005592.3(MUSK): c.79+2T> G single nucleotide variant Pathogenic rs200783529 GRCh37 Chromosome 9, 113431265: 113431265
30 MUSK NM_005592.3(MUSK): c.79+2T> G single nucleotide variant Pathogenic rs200783529 GRCh38 Chromosome 9, 110668985: 110668985
31 MUSK NM_005592.3(MUSK): c.374G> T (p.Arg125Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs375737188 GRCh37 Chromosome 9, 113457698: 113457698
32 MUSK NM_005592.3(MUSK): c.374G> T (p.Arg125Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs375737188 GRCh38 Chromosome 9, 110695418: 110695418
33 RAPSN NM_005055.4(RAPSN): c.829A> G (p.Thr277Ala) single nucleotide variant no interpretation for the single variant rs863224911 GRCh38 Chromosome 11, 47441694: 47441694
34 RAPSN NM_005055.4(RAPSN): c.829A> G (p.Thr277Ala) single nucleotide variant no interpretation for the single variant rs863224911 GRCh37 Chromosome 11, 47463246: 47463246
35 RAPSN NM_005055.4(RAPSN): c.524A> G (p.Gln175Arg) single nucleotide variant no interpretation for the single variant rs863224912 GRCh37 Chromosome 11, 47469371: 47469371
36 RAPSN NM_005055.4(RAPSN): c.524A> G (p.Gln175Arg) single nucleotide variant no interpretation for the single variant rs863224912 GRCh38 Chromosome 11, 47447819: 47447819
37 CHRNE NM_000080.3(CHRNE): c.1353dupG (p.Asn452GlufsTer4) duplication Pathogenic rs773526895 GRCh38 Chromosome 17, 4898865: 4898865
38 CHRNE NM_000080.3(CHRNE): c.1353dupG (p.Asn452GlufsTer4) duplication Pathogenic rs773526895 GRCh37 Chromosome 17, 4802160: 4802160
39 CHRNE NM_000080.3(CHRNE): c.1327delG (p.Glu443LysfsTer64) deletion Pathogenic rs763258280 GRCh37 Chromosome 17, 4802186: 4802186
40 CHRNE NM_000080.3(CHRNE): c.1327delG (p.Glu443LysfsTer64) deletion Pathogenic rs763258280 GRCh38 Chromosome 17, 4898891: 4898891
41 CHAT NM_020549.4(CHAT): c.406G> A (p.Val136Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201479289 GRCh37 Chromosome 10, 50827789: 50827789
42 CHAT NM_020549.4(CHAT): c.406G> A (p.Val136Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201479289 GRCh38 Chromosome 10, 49619743: 49619743
43 CHRNE NM_000080.3(CHRNE): c.1093delG (p.Ala365Profs) deletion Pathogenic rs886043239 GRCh37 Chromosome 17, 4802619: 4802619
44 CHRNE NM_000080.3(CHRNE): c.1093delG (p.Ala365Profs) deletion Pathogenic rs886043239 GRCh38 Chromosome 17, 4899324: 4899324
45 CHRNE NM_000080.3(CHRNE): c.1326+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 4802295: 4802295
46 CHRNE NM_000080.3(CHRNE): c.1326+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 4899000: 4899000
47 CHRNB1 NM_000747.2(CHRNB1): c.167T> C (p.Val56Ala) single nucleotide variant Uncertain significance rs759668768 GRCh38 Chromosome 17, 7445378: 7445378
48 CHRNB1 NM_000747.2(CHRNB1): c.167T> C (p.Val56Ala) single nucleotide variant Uncertain significance rs759668768 GRCh37 Chromosome 17, 7348697: 7348697

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...

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 postsynaptic membrane GO:0045211 9.16 CHRNE MUSK
2 cell junction GO:0030054 9.13 CHRNE DOK7 MUSK
3 synapse GO:0045202 8.8 CHRNE DOK7 MUSK

Sources for Congenital Myasthenic Syndrome Associated with Acetylcholine...

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