MCID: MYS057
MIFTS: 22

Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 11, Associated with...

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

Name: Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 57 75 29 6
Cms11 57 12 75
Myasthenic Syndrome, Congenital, Ie 75 73
Cms Ie 12 75
Cms1e 12 75
Myasthenic Syndrome, Congenital, Type 11, Associated with Acetylcholine Receptor Deficiency 40
Congenital Myasthenic Syndrome 11 Associated with Acetylcholine Receptor Deficiency 12
Myasthenic Syndrome, Congenital, Ie, Formerly; Cms1e, Formerly 57
Myasthenic Syndrome, Congenital, Ie, Formerly 57
Congenital Myasthenic Syndrome 11 12
Congenital Myasthenic Syndrome 1e 12
Cms Ie, Formerly 57
Cms1e, Formerly 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
favorable response to treatment with cholinesterase inhibitors or amifampridine


HPO:

32
myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 11, Associated with...

UniProtKB/Swiss-Prot : 75 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency: 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 affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current.

MalaCards based summary : Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency, also known as cms11, is related to myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency. An important gene associated with Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency is RAPSN (Receptor Associated Protein Of The Synapse). Related phenotypes are high palate and long face

OMIM : 57 Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616326)

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has material basis in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.

Related Diseases for Myasthenic Syndrome, Congenital, 11, Associated with...

Diseases related to Myasthenic Syndrome, Congenital, 11, 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 11.1

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 11, Associated with...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
ptosis
long face

Head And Neck Mouth:
high-arched palate

Skeletal:
joint contractures
arthrogryposis (in some patients)

Respiratory:
respiratory insufficiency, episodic

Muscle Soft Tissue:
easy fatigability
hypotonia, neonatal
gower sign
decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation
decreased achr at the endplate
more
Abdomen Gastrointestinal:
poor feeding

Prenatal Manifestations Movement:
decreased fetal movements

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


Clinical features from OMIM:

616326

Human phenotypes related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 long face 32 HP:0000276
3 ptosis 32 HP:0000508
4 neonatal hypotonia 32 HP:0001319
5 decreased fetal movement 32 HP:0001558
6 respiratory insufficiency 32 HP:0002093
7 arthrogryposis multiplex congenita 32 occasional (7.5%) HP:0002804
8 easy fatigability 32 HP:0003388
9 gowers sign 32 HP:0003391
10 feeding difficulties 32 HP:0011968

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 11, Associated with...

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency

Genetic Tests for Myasthenic Syndrome, Congenital, 11, Associated with...

Genetic tests related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 29 RAPSN

Anatomical Context for Myasthenic Syndrome, Congenital, 11, Associated with...

Publications for Myasthenic Syndrome, Congenital, 11, Associated with...

Variations for Myasthenic Syndrome, Congenital, 11, Associated with...

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 RAPSN p.Leu14Pro VAR_021216 rs104894300
2 RAPSN p.Asn88Lys VAR_021217 rs104894299
3 RAPSN p.Val45Met VAR_043898 rs121909254
4 RAPSN p.Glu162Lys VAR_043900 rs121909255
5 RAPSN p.Arg164Cys VAR_043901 rs104894294
6 RAPSN p.Leu283Pro VAR_043903 rs104894293

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

6
(show top 50) (show all 75)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAPSN NM_005055.4(RAPSN): c.41T> C (p.Leu14Pro) single nucleotide variant Pathogenic rs104894300 GRCh37 Chromosome 11, 47470476: 47470476
2 RAPSN NM_005055.4(RAPSN): c.41T> C (p.Leu14Pro) single nucleotide variant Pathogenic rs104894300 GRCh38 Chromosome 11, 47448924: 47448924
3 RAPSN NM_005055.4(RAPSN): c.549_553dupGTTCT (p.Phe185Cysfs) duplication Pathogenic rs786200904 GRCh38 Chromosome 11, 47442793: 47442797
4 RAPSN NM_005055.4(RAPSN): c.549_553dupGTTCT (p.Phe185Cysfs) duplication Pathogenic rs786200904 GRCh37 Chromosome 11, 47464345: 47464349
5 RAPSN RAPSN, 1-BP INS, 46C insertion Pathogenic
6 RAPSN NM_005055.4(RAPSN): c.807C> A (p.Tyr269Ter) single nucleotide variant Pathogenic rs104894301 GRCh37 Chromosome 11, 47463268: 47463268
7 RAPSN NM_005055.4(RAPSN): c.807C> A (p.Tyr269Ter) single nucleotide variant Pathogenic rs104894301 GRCh38 Chromosome 11, 47441716: 47441716
8 RAPSN NM_005055.4(RAPSN): c.-210A> G single nucleotide variant Pathogenic rs786200905 GRCh38 Chromosome 11, 47449174: 47449174
9 RAPSN NM_005055.4(RAPSN): c.-210A> G single nucleotide variant Pathogenic rs786200905 GRCh37 Chromosome 11, 47470726: 47470726
10 RAPSN NM_005055.4(RAPSN): c.848T> C (p.Leu283Pro) single nucleotide variant Likely pathogenic rs104894293 GRCh37 Chromosome 11, 47463227: 47463227
11 RAPSN NM_005055.4(RAPSN): c.848T> C (p.Leu283Pro) single nucleotide variant Likely pathogenic rs104894293 GRCh38 Chromosome 11, 47441675: 47441675
12 RAPSN NM_005055.4(RAPSN): c.193-15C> A single nucleotide variant Pathogenic rs45547231 GRCh38 Chromosome 11, 47448165: 47448165
13 RAPSN NM_005055.4(RAPSN): c.193-15C> A single nucleotide variant Pathogenic rs45547231 GRCh37 Chromosome 11, 47469717: 47469717
14 RAPSN NM_005055.4(RAPSN): c.490C> T (p.Arg164Cys) single nucleotide variant Likely pathogenic rs104894294 GRCh37 Chromosome 11, 47469405: 47469405
15 RAPSN NM_005055.4(RAPSN): c.490C> T (p.Arg164Cys) single nucleotide variant Likely pathogenic rs104894294 GRCh38 Chromosome 11, 47447853: 47447853
16 RAPSN NM_005055.4(RAPSN): c.133G> A (p.Val45Met) single nucleotide variant Pathogenic rs121909254 GRCh37 Chromosome 11, 47470384: 47470384
17 RAPSN NM_005055.4(RAPSN): c.133G> A (p.Val45Met) single nucleotide variant Pathogenic rs121909254 GRCh38 Chromosome 11, 47448832: 47448832
18 RAPSN NM_005055.4(RAPSN): c.484G> A (p.Glu162Lys) single nucleotide variant Pathogenic rs121909255 GRCh37 Chromosome 11, 47469411: 47469411
19 RAPSN NM_005055.4(RAPSN): c.484G> A (p.Glu162Lys) single nucleotide variant Pathogenic rs121909255 GRCh38 Chromosome 11, 47447859: 47447859
20 RAPSN NM_005055.4(RAPSN): c.1083_1084dupCT (p.Tyr362Serfs) duplication Pathogenic rs786205885 GRCh38 Chromosome 11, 47438814: 47438815
21 RAPSN NM_005055.4(RAPSN): c.1083_1084dupCT (p.Tyr362Serfs) duplication Pathogenic rs786205885 GRCh37 Chromosome 11, 47460365: 47460366
22 RAPSN NM_005055.4(RAPSN): c.241T> C (p.Phe81Leu) single nucleotide variant Benign/Likely benign rs57878668 GRCh37 Chromosome 11, 47469654: 47469654
23 RAPSN NM_005055.4(RAPSN): c.241T> C (p.Phe81Leu) single nucleotide variant Benign/Likely benign rs57878668 GRCh38 Chromosome 11, 47448102: 47448102
24 RAPSN NM_005055.4(RAPSN): c.614G> A (p.Arg205Gln) single nucleotide variant Benign/Likely benign rs34625105 GRCh37 Chromosome 11, 47464284: 47464284
25 RAPSN NM_005055.4(RAPSN): c.614G> A (p.Arg205Gln) single nucleotide variant Benign/Likely benign rs34625105 GRCh38 Chromosome 11, 47442732: 47442732
26 RAPSN NM_005055.4(RAPSN): c.474C> T (p.Asp158=) single nucleotide variant Conflicting interpretations of pathogenicity rs56245238 GRCh37 Chromosome 11, 47469421: 47469421
27 RAPSN NM_005055.4(RAPSN): c.474C> T (p.Asp158=) single nucleotide variant Conflicting interpretations of pathogenicity rs56245238 GRCh38 Chromosome 11, 47447869: 47447869
28 RAPSN NM_005055.4(RAPSN): c.162G> A (p.Ser54=) single nucleotide variant Benign/Likely benign rs72905825 GRCh37 Chromosome 11, 47470355: 47470355
29 RAPSN NM_005055.4(RAPSN): c.162G> A (p.Ser54=) single nucleotide variant Benign/Likely benign rs72905825 GRCh38 Chromosome 11, 47448803: 47448803
30 RAPSN NM_005055.4(RAPSN): c.821G> A (p.Ser274Asn) single nucleotide variant Uncertain significance rs140996453 GRCh37 Chromosome 11, 47463254: 47463254
31 RAPSN NM_005055.4(RAPSN): c.821G> A (p.Ser274Asn) single nucleotide variant Uncertain significance rs140996453 GRCh38 Chromosome 11, 47441702: 47441702
32 RAPSN NM_005055.4(RAPSN): c.492C> T (p.Arg164=) single nucleotide variant Conflicting interpretations of pathogenicity rs146237774 GRCh37 Chromosome 11, 47469403: 47469403
33 RAPSN NM_005055.4(RAPSN): c.492C> T (p.Arg164=) single nucleotide variant Conflicting interpretations of pathogenicity rs146237774 GRCh38 Chromosome 11, 47447851: 47447851
34 RAPSN NM_005055.4(RAPSN): c.960G> A (p.Gly320=) single nucleotide variant Benign/Likely benign rs145357531 GRCh38 Chromosome 11, 47441165: 47441165
35 RAPSN NM_005055.4(RAPSN): c.960G> A (p.Gly320=) single nucleotide variant Benign/Likely benign rs145357531 GRCh37 Chromosome 11, 47462716: 47462716
36 RAPSN NM_005055.4(RAPSN): c.216G> A (p.Thr72=) single nucleotide variant Likely benign rs141877523 GRCh38 Chromosome 11, 47448127: 47448127
37 RAPSN NM_005055.4(RAPSN): c.216G> A (p.Thr72=) single nucleotide variant Likely benign rs141877523 GRCh37 Chromosome 11, 47469679: 47469679
38 RAPSN NM_005055.4(RAPSN): c.776G> A (p.Arg259His) single nucleotide variant Uncertain significance rs766051613 GRCh38 Chromosome 11, 47441836: 47441836
39 RAPSN NM_005055.4(RAPSN): c.776G> A (p.Arg259His) single nucleotide variant Uncertain significance rs766051613 GRCh37 Chromosome 11, 47463388: 47463388
40 RAPSN NM_005055.4(RAPSN): c.662G> A (p.Arg221His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 47442684: 47442684
41 RAPSN NM_005055.4(RAPSN): c.662G> A (p.Arg221His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 47464236: 47464236
42 RAPSN NM_005055.4(RAPSN): c.363C> T (p.Leu121=) single nucleotide variant Benign rs190548363 GRCh37 Chromosome 11, 47469532: 47469532
43 RAPSN NM_005055.4(RAPSN): c.363C> T (p.Leu121=) single nucleotide variant Benign rs190548363 GRCh38 Chromosome 11, 47447980: 47447980
44 RAPSN NM_005055.4(RAPSN): c.175T> C (p.Tyr59His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 47448790: 47448790
45 RAPSN NM_005055.4(RAPSN): c.175T> C (p.Tyr59His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 47470342: 47470342
46 RAPSN NM_005055.4(RAPSN): c.1181A> G (p.Asn394Ser) single nucleotide variant Uncertain significance rs370123138 GRCh38 Chromosome 11, 47438033: 47438033
47 RAPSN NM_005055.4(RAPSN): c.1181A> G (p.Asn394Ser) single nucleotide variant Uncertain significance rs370123138 GRCh37 Chromosome 11, 47459584: 47459584
48 RAPSN NM_005055.4(RAPSN): c.640G> A (p.Val214Met) single nucleotide variant Likely benign rs201124957 GRCh37 Chromosome 11, 47464258: 47464258
49 RAPSN NM_005055.4(RAPSN): c.640G> A (p.Val214Met) single nucleotide variant Likely benign rs201124957 GRCh38 Chromosome 11, 47442706: 47442706
50 RAPSN NM_005055.4(RAPSN): c.1189C> T (p.Arg397Trp) single nucleotide variant Uncertain significance rs201796294 GRCh37 Chromosome 11, 47459576: 47459576

Expression for Myasthenic Syndrome, Congenital, 11, Associated with...

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Pathways for Myasthenic Syndrome, Congenital, 11, Associated with...

GO Terms for Myasthenic Syndrome, Congenital, 11, Associated with...

Sources for Myasthenic Syndrome, Congenital, 11, Associated with...

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