CMS4C
MCID: MYS061
MIFTS: 46

Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency (CMS4C)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases
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Aliases & Classifications for Myasthenic Syndrome, Congenital, 4c, Associated with...

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

Name: Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency 57 73
Congenital Myasthenic Syndrome 4c 11 28 5 14
Cms4c 57 11 73
Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency 73 71
Congenital Myasthenic Syndrome Type Id 11 73
Cms Id 11 73
Cms1d 11 73
Fim1 11 73
Congenital Myasthenic Syndrome with Facial Dysmorphism Associated with Acetylcholine Receptor Deficiency 73
Congenital Myasthenic Syndrome Post-Synaptic Associated with Acetylcholine Receptor Deficiency 73
Myasthenic Syndrome, Congenital, Type 4c, Associated with Acetylcholine Receptor Deficiency 38
Congenital Myasthenic Syndrome 4c Associated with Acetylcholine Receptor Deficiency 11
Myasthenia, Familial Infantile, 1, Formerly 57
Myasthenic Syndrome, Congenital, Type Id 57
Congenital Myasthenic Syndrome Type 1d 73
Congenital Myasthenic Syndrome Type 1e 73
Congenital Myasthenic Syndrome Type Ie 73
Myasthenic Syndrome, Congenital, Ie 71
Myasthenia, Familial Infantile, 1 73
Familial Infantile Myasthenia 1 11
Cms Id, Formerly 57
Cms1d, Formerly 57
Fim1, Formerly 57
Cms-Achrd 73
Cms Ie 73
Cms1e 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
variable severity
milder cases have onset in childhood or adulthood with history of muscle weakness since infancy because fetal chrng exhibits phenotypic rescue
favorable response to cholinesterase inhibitors
gypsy groups demonstrate a founder effect (1267delg, )


HPO:

30
myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency:
Onset and clinical course variable expressivity nonprogressive


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 4c, Associated with...

UniProtKB/Swiss-Prot: 73 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. CMS4C 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, 4c, Associated with Acetylcholine Receptor Deficiency, also known as congenital myasthenic syndrome 4c, is related to myasthenic syndrome, congenital, 4a, slow-channel and congenital myasthenic syndrome associated with acetylcholine receptor deficiency, and has symptoms including ophthalmoparesis, muscle cramp and facial paresis. An important gene associated with Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency is CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Postsynaptic nicotinic acetylcholine receptors. Affiliated tissues include skeletal muscle and tongue, and related phenotypes are ptosis and ophthalmoparesis

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. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (100730) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (608931) (Updated 08-Dec-2022)

Disease Ontology: 11 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.

Related Diseases for Myasthenic Syndrome, Congenital, 4c, Associated with...

Diseases related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 4a, slow-channel 32.7 CHRNE C17orf107
2 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 32.3 RAPSN MUSK GFPT1 CHRNE CHAT C17orf107
3 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 11.5
4 myasthenic syndrome, congenital, 12 10.3 RAPSN GFPT1
5 sclerosteosis 2 10.3 RAPSN MUSK
6 myasthenic syndrome, congenital, 21, presynaptic 10.3 GFPT1 CHAT
7 cenani-lenz syndactyly syndrome 10.2 RAPSN MUSK CHRNE
8 spastic paraplegia 3, autosomal dominant 10.2 SPG7 SPAST
9 hereditary spastic paraplegia 49 10.2 SPG7 SPAST
10 hereditary spastic paraplegia 30 10.2 SPG7 SPAST
11 spastic paraplegia 14, autosomal recessive 10.2 SPG7 SPAST
12 neonatal myasthenia gravis 10.2 RAPSN MUSK CHRNG
13 spastic paraplegia 6, autosomal dominant 10.2 SPG7 SPAST
14 spastic paraplegia 61, autosomal recessive 10.2 SPG7 SPAST
15 spastic paraplegia 79, autosomal recessive 10.2 SPG7 SPAST
16 spastic paraplegia 18, autosomal recessive 10.2 SPG7 SPAST
17 spastic paraplegia 11, autosomal recessive 10.2 SPG7 SPAST
18 spastic paraplegia 78, autosomal recessive 10.2 SPG7 SPAST
19 brain angioma 10.2 CHRNE CHRND
20 spastic paraplegia 55, autosomal recessive 10.2 SPG7 SPAST
21 spastic paraplegia 54, autosomal recessive 10.2 SPG7 SPAST
22 spastic paraplegia 8, autosomal dominant 10.1 SPG7 SPAST
23 spastic paraplegia 15, autosomal recessive 10.1 SPG7 SPAST
24 spastic paraplegia 43, autosomal recessive 10.1 SPG7 SPAST
25 spastic paraparesis 10.1 SPG7 SPAST
26 hereditary spastic paraplegia 35 10.1 SPG7 SPAST
27 myasthenia gravis 10.1 RAPSN MUSK CHRNG CHRNE
28 spastic paraplegia 45, autosomal recessive 10.1 SPG7 SPAST
29 ocular motility disease 10.1 SPG7 RAPSN MUSK CHRNE
30 spastic paraplegia 13, autosomal dominant 10.1 SPAST SPG7
31 myasthenic syndrome, congenital, 1b, fast-channel 10.1 CHRNE CHRND C17orf107
32 cystic lymphangioma 10.0 RAPSN CHRNG CHRND
33 primary optic atrophy 10.0 MYBPC1 ECEL1
34 multiple pterygium syndrome, lethal type 10.0 RAPSN CHRNG CHRND
35 fissured tongue 10.0 MYBPC1 ECEL1
36 congenital ptosis 10.0 RAPSN CHRNG CHRND
37 spastic paraplegia 42, autosomal dominant 10.0 SPG7 SPAST
38 leukemia 10.0
39 spastic paraplegia 20, autosomal recessive 10.0 SPG7 SPAST
40 myasthenic syndrome, congenital, 6, presynaptic 9.9 RAPSN CHRNE CHRND CHAT
41 arthrogryposis, distal, type 10 9.9 MYBPC1 GLE1
42 lethal congenital contracture syndrome 2 9.9 MYBPC1 GLE1
43 arthrogryposis, distal, type 5d 9.9 MYBPC1 ECEL1 CHRNG
44 spastic paraplegia 4, autosomal dominant 9.9 SPG7 SPAST
45 arthrogryposis, distal, type 7 9.8 MYBPC1 GLE1
46 lethal congenital contracture syndrome 1 9.8 MYBPC1 GLE1
47 paramyotonia congenita of von eulenburg 9.7 CHRNE CHRND CHRNB1
48 arthrogryposis, distal, type 5 9.7 MYBPC1 GLE1 ECEL1
49 tobacco addiction 9.7 CHRNG CHRND CHRNB1
50 myasthenic syndrome, congenital, 13 9.7 RAPSN CHRNE CHRND CHRNB1

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:



Diseases related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 4c, Associated with...

Human phenotypes related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 30 Very rare (1%) HP:0000508
2 ophthalmoparesis 30 Very rare (1%) HP:0000597
3 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 30 Very rare (1%) HP:0003403
4 dysarthria 30 HP:0001260
5 dysphagia 30 HP:0002015
6 facial palsy 30 HP:0010628
7 high palate 30 HP:0000218
8 mandibular prognathia 30 HP:0000303
9 dental malocclusion 30 HP:0000689
10 decreased muscle mass 30 HP:0003199
11 skeletal muscle atrophy 30 HP:0003202
12 strabismus 30 HP:0000486
13 respiratory insufficiency due to muscle weakness 30 HP:0002747
14 motor delay 30 HP:0001270
15 easy fatigability 30 HP:0003388
16 long face 30 HP:0000276
17 decreased fetal movement 30 HP:0001558
18 arthrogryposis multiplex congenita 30 HP:0002804
19 feeding difficulties 30 HP:0011968
20 gowers sign 30 HP:0003391
21 weak cry 30 HP:0001612
22 generalized hypotonia 30 HP:0001290
23 fatigable weakness 30 HP:0003473
24 muscle spasm 30 HP:0003394
25 type 2 muscle fiber atrophy 30 HP:0003554
26 decreased size of nerve terminals 30 HP:0003443

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
ptosis
ophthalmoparesis

Abdomen Gastrointestinal:
dysphagia
poor feeding

Head And Neck Face:
long face
facial muscle weakness

Prenatal Manifestations Movement:
decreased fetal movements (in some patients)

Respiratory:
respiratory insufficiency (due to muscle weakness)

Voice:
dysarthria
weak cry

Muscle Soft Tissue:
hypotonia
easy fatigability
gowers sign
muscle cramps
muscle atrophy
more
Head And Neck Mouth:
malocclusion
high-arched palate
tongue weakness

Skeletal:
arthrogryposis multiplex in severe cases

Neurologic:
delayed motor development (due to muscle weakness)

Clinical features from OMIM®:

608931 (Updated 08-Dec-2022)

UMLS symptoms related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:


ophthalmoparesis; muscle cramp; facial paresis

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.9 CHAT CHRNB1 CHRNE CHRNG CSF1R ECEL1
2 muscle MP:0005369 9.65 ASL CHAT CHRNE CHRNG ECEL1 GFPT1
3 growth/size/body region MP:0005378 9.44 ASL CHAT CHRND CHRNE CHRNG CSF1R

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 4c, Associated with...

Search Clinical Trials, NIH Clinical Center for Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency

Genetic Tests for Myasthenic Syndrome, Congenital, 4c, Associated with...

Genetic tests related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

# Genetic test Affiliating Genes
1 Congenital Myasthenic Syndrome 4c 28 CHRNE GFPT1

Anatomical Context for Myasthenic Syndrome, Congenital, 4c, Associated with...

Organs/tissues related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

MalaCards : Skeletal Muscle, Tongue
ODiseA: Skeletal Muscle

Publications for Myasthenic Syndrome, Congenital, 4c, Associated with...

Articles related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

(show top 50) (show all 52)
# Title Authors PMID Year
1
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. 57 5
19064877 2008
2
Mutation history of the roma/gypsies. 57 5
15322984 2004
3
Congenital myasthenic syndromes. 57 5
15367858 2004
4
Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. 57 5
11030414 2000
5
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. 57 5
10534268 1999
6
Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. 57 5
10514102 1999
7
Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene. 57 5
10496269 1999
8
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. 57 5
10211467 1999
9
Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency. 57 5
9443457 1998
10
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. 57 5
9158150 1997
11
Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. 57 5
9097970 1997
12
End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. 57 5
8957026 1996
13
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
14
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 57
25792100 2015
15
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. 5
21305573 2011
16
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. 5
20157724 2010
17
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 5
19620612 2009
18
Unusual features in a boy with the rapsyn N88K mutation. 5
17190963 2006
19
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. 5
16945936 2006
20
Splicing abnormalities in congenital myasthenic syndromes. 5
16550914 2005
21
An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. 5
16087917 2005
22
A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition. 57
15471888 2004
23
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. 5
15482960 2004
24
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 5
15328566 2004
25
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 5
15036330 2004
26
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation. 5
14659409 2004
27
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 5
12796535 2003
28
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. 5
12807980 2003
29
Identification of pathogenic mutations in the human rapsyn gene. 5
12730725 2003
30
Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations. 57
12034803 2002
31
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 5
11791205 2002
32
A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency. 5
9668239 1998
33
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. 5
8755487 1996
34
Congenital myasthenia: further evidence of disease heterogeneity. 57
3010100 1986
35
Inheritance of congenital myasthenia gravis in smooth fox terrier dogs. 57
6736601 1984
36
Development, Characterization, and in vivo Validation of a Humanized C6 Monoclonal Antibody that Inhibits the Membrane Attack Complex. 62
35551129 2022
37
Functional Independence Measure Subtypes among Inpatients with Subacute Stroke: Classification via Latent Class Analysis. 62
35528116 2022
38
Survival of stemless humeral head replacement in anatomic shoulder arthroplasty: a prospective study. 62
33144222 2021
39
Cooperation between tropomyosin and α-actinin inhibits fimbrin association with actin filament networks in fission yeast. 62
31180322 2019
40
Kluyveromyces marxianus developing ethanol tolerance during adaptive evolution with significant improvements of multiple pathways. 62
30949239 2019
41
Mutational Mtc6p attenuates autophagy and improves secretory expression of heterologous proteins in Kluyveromyces marxianus. 62
30217195 2018
42
Investigation of the Fim1 putative pilus locus of Streptococcus equi subspecies equi. 62
28749324 2017
43
Analysis of diarrheagenic potential of uropathogenic Escherichia coli isolates in Dhaka, Bangladesh. 62
30951507 2017
44
Competition between Tropomyosin, Fimbrin, and ADF/Cofilin drives their sorting to distinct actin filament networks. 62
28282023 2017
45
FIMBRIN1 is involved in lily pollen tube growth by stabilizing the actin fringe. 62
23150633 2012
46
α-Actinin and fimbrin cooperate with myosin II to organize actomyosin bundles during contractile-ring assembly. 62
22740629 2012
47
Actin filament bundling by fimbrin is important for endocytosis, cytokinesis, and polarization in fission yeast. 62
21642440 2011
48
Handgrip strength of the elderly after hip fracture repair correlates with functional outcome. 62
20025431 2010
49
Interactions among a fimbrin, a capping protein, and an actin-depolymerizing factor in organization of the fission yeast actin cytoskeleton. 62
11694585 2001
50
Roles of a fimbrin and an alpha-actinin-like protein in fission yeast cell polarization and cytokinesis. 62
11294907 2001

Variations for Myasthenic Syndrome, Congenital, 4c, Associated with...

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

5 (show top 50) (show all 101)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRNE, C17orf107 NM_000080.4(CHRNE):c.344+1G>A SNV Pathogenic
18349 rs879253722 GRCh37: 17:4805511-4805511
GRCh38: 17:4902216-4902216
2 CHRNE NM_000080.4(CHRNE):c.1030del (p.His344fs) DEL Pathogenic
18350 rs879253723 GRCh37: 17:4802765-4802765
GRCh38: 17:4899470-4899470
3 CHRNE NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter) INSERT Pathogenic
18355 rs886037628 GRCh37: 17:4802550-4802551
GRCh38: 17:4899255-4899256
4 CHRNE, C17orf107 NM_000080.4(CHRNE):c.501-16G>A SNV Pathogenic
18362 rs879255563 GRCh37: 17:4804936-4804936
GRCh38: 17:4901641-4901641
5 CHRNE NM_000080.4(CHRNE):c.1033-2A>T SNV Pathogenic
189225 rs786204773 GRCh37: 17:4802681-4802681
GRCh38: 17:4899386-4899386
6 CHRNE NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs) DEL Pathogenic
623392 rs1567636493 GRCh37: 17:4802613-4802631
GRCh38: 17:4899318-4899336
7 ASL NM_000048.4(ASL):c.1327del (p.Thr443fs) DEL Pathogenic
1299524 GRCh37: 7:65557831-65557831
GRCh38: 7:66092844-66092844
8 CHRNE, C17orf107 NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter) SNV Pathogenic
18347 rs121909513 GRCh37: 17:4805606-4805606
GRCh38: 17:4902311-4902311
9 CHRNE NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) SNV Pathogenic
18358 rs121909515 GRCh37: 17:4802804-4802804
GRCh38: 17:4899509-4899509
10 GFPT1 NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln) SNV Pathogenic
381940 rs922548333 GRCh37: 2:69601212-69601212
GRCh38: 2:69374080-69374080
11 CHRNE, C17orf107 NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) DEL Pathogenic
18357 rs753828284 GRCh37: 17:4804467-4804473
GRCh38: 17:4901172-4901178
12 CHRNE, C17orf107 NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) SNV Pathogenic
18345 rs121909514 GRCh37: 17:4805227-4805227
GRCh38: 17:4901932-4901932
13 CHRNE, C17orf107 NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) SNV Pathogenic
282036 rs144169073 GRCh37: 17:4806002-4806002
GRCh38: 17:4902707-4902707
14 CHRNE NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) DUP Pathogenic
Pathogenic
243032 rs773526895 GRCh37: 17:4802159-4802160
GRCh38: 17:4898864-4898865
15 MUSK NM_005592.4(MUSK):c.79+2T>G SNV Pathogenic
211542 rs200783529 GRCh37: 9:113431265-113431265
GRCh38: 9:110668985-110668985
16 CHRNE, C17orf107 NM_000080.4(CHRNE):c.130dup (p.Glu44fs) DUP Pathogenic
243030 rs762368691 GRCh37: 17:4805974-4805975
GRCh38: 17:4902679-4902680
17 CHRNE NM_000080.4(CHRNE):c.971del (p.Ile324fs) DEL Pathogenic
18348 rs879255562 GRCh37: 17:4802824-4802824
GRCh38: 17:4899529-4899529
18 CHRNE, C17orf107 NM_000080.4(CHRNE):c.-11-85C>T SNV Pathogenic
18353 rs748144899 GRCh37: 17:4806454-4806454
GRCh38: 17:4903159-4903159
19 CHRNE NM_000080.4(CHRNE):c.1327del DEL Pathogenic
Pathogenic
243031 rs763258280 GRCh37: 17:4802186-4802186
GRCh38: 17:4898891-4898891
20 RAPSN NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) SNV Pathogenic
8046 rs104894299 GRCh37: 11:47469631-47469631
GRCh38: 11:47448079-47448079
21 CHRNE NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs) DUP Pathogenic
694644 rs1597613479 GRCh37: 17:4802354-4802355
GRCh38: 17:4899059-4899060
22 CHRNE, C17orf107 NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) SNV Likely Pathogenic
18359 rs372635387 GRCh37: 17:4806322-4806322
GRCh38: 17:4903027-4903027
23 MUSK NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) SNV Likely Pathogenic
211541 rs375737188 GRCh37: 9:113457698-113457698
GRCh38: 9:110695418-110695418
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 CHRNE NM_000080.4(CHRNE):c.1326+1G>A SNV Likely Pathogenic
488482 rs1430654625 GRCh37: 17:4802295-4802295
GRCh38: 17:4899000-4899000
26 CHRNE, C17orf107 NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) SNV Likely Pathogenic
18360 rs121909516 GRCh37: 17:4805239-4805239
GRCh38: 17:4901944-4901944
27 CHAT NM_020549.5(CHAT):c.982del (p.Asp328fs) DEL Likely Pathogenic
813415 rs1590576560 GRCh37: 10:50835698-50835698
GRCh38: 10:49627652-49627652
28 CHAT NM_020549.5(CHAT):c.1715C>A (p.Ser572Ter) SNV Likely Pathogenic
813416 rs753652169 GRCh37: 10:50863221-50863221
GRCh38: 10:49655175-49655175
29 CHRNB1 NM_000747.3(CHRNB1):c.669T>C (p.Asp223=) SNV Uncertain Significance
888587 rs1382103917 GRCh37: 17:7351956-7351956
GRCh38: 17:7448637-7448637
30 CHRNB1 NM_000747.3(CHRNB1):c.1348C>A (p.Gln450Lys) SNV Uncertain Significance
888631 rs746049604 GRCh37: 17:7359243-7359243
GRCh38: 17:7455924-7455924
31 CHRNB1 NM_000747.3(CHRNB1):c.481G>A (p.Asp161Asn) SNV Uncertain Significance
890189 rs766657460 GRCh37: 17:7350840-7350840
GRCh38: 17:7447521-7447521
32 CHRNB1 NM_000747.3(CHRNB1):c.*79G>A SNV Uncertain Significance
890333 rs2069957554 GRCh37: 17:7360121-7360121
GRCh38: 17:7456802-7456802
33 CHRNB1 NM_000747.3(CHRNB1):c.*120G>A SNV Uncertain Significance
890334 rs1340226289 GRCh37: 17:7360162-7360162
GRCh38: 17:7456843-7456843
34 CHRNB1 NM_000747.3(CHRNB1):c.*343C>T SNV Uncertain Significance
890897 rs537009813 GRCh37: 17:7360385-7360385
GRCh38: 17:7457066-7457066
35 CHRNB1 NM_000747.3(CHRNB1):c.*369C>T SNV Uncertain Significance
890898 rs552159525 GRCh37: 17:7360411-7360411
GRCh38: 17:7457092-7457092
36 CHRNB1 NM_000747.3(CHRNB1):c.*403C>G SNV Uncertain Significance
890899 rs1274500712 GRCh37: 17:7360445-7360445
GRCh38: 17:7457126-7457126
37 CHRNB1 NM_000747.3(CHRNB1):c.*512C>T SNV Uncertain Significance
890900 rs1244804394 GRCh37: 17:7360554-7360554
GRCh38: 17:7457235-7457235
38 CHRNB1 NM_000747.3(CHRNB1):c.*701G>A SNV Uncertain Significance
892131 rs564887658 GRCh37: 17:7360743-7360743
GRCh38: 17:7457424-7457424
39 CHRNB1 NM_000747.3(CHRNB1):c.*765G>A SNV Uncertain Significance
892132 rs776762809 GRCh37: 17:7360807-7360807
GRCh38: 17:7457488-7457488
40 CHRNB1 NM_000747.3(CHRNB1):c.*775A>C SNV Uncertain Significance
892133 rs761728841 GRCh37: 17:7360817-7360817
GRCh38: 17:7457498-7457498
41 CHRNB1 NM_000747.3(CHRNB1):c.*71C>T SNV Uncertain Significance
325110 rs886053405 GRCh37: 17:7360113-7360113
GRCh38: 17:7456794-7456794
42 CHRNB1 NM_000747.3(CHRNB1):c.-19C>T SNV Uncertain Significance
325072 rs550926134 GRCh37: 17:7348428-7348428
GRCh38: 17:7445109-7445109
43 CHRNB1 NM_000747.3(CHRNB1):c.*18C>T SNV Uncertain Significance
256770 rs79747991 GRCh37: 17:7360060-7360060
GRCh38: 17:7456741-7456741
44 CHRNB1 NM_000747.3(CHRNB1):c.*778C>T SNV Uncertain Significance
325116 rs556525486 GRCh37: 17:7360820-7360820
GRCh38: 17:7457501-7457501
45 CHRNB1 NM_000747.3(CHRNB1):c.680G>A (p.Gly227Glu) SNV Uncertain Significance
325092 rs886053399 GRCh37: 17:7351967-7351967
GRCh38: 17:7448648-7448648
46 CHRNB1 NM_000747.3(CHRNB1):c.1087C>A (p.Pro363Thr) SNV Uncertain Significance
325104 rs886053402 GRCh37: 17:7358645-7358645
GRCh38: 17:7455326-7455326
47 CHRNB1 NM_000747.3(CHRNB1):c.*31C>T SNV Uncertain Significance
325108 rs75282248 GRCh37: 17:7360073-7360073
GRCh38: 17:7456754-7456754
48 CHRNB1 NM_000747.3(CHRNB1):c.*136T>C SNV Uncertain Significance
325111 rs182995220 GRCh37: 17:7360178-7360178
GRCh38: 17:7456859-7456859
49 CHRNB1 NM_000747.3(CHRNB1):c.278C>G (p.Ala93Gly) SNV Uncertain Significance
325075 rs753646145 GRCh37: 17:7350186-7350186
GRCh38: 17:7446867-7446867
50 CHRNB1 NM_000747.3(CHRNB1):c.354-3C>T SNV Uncertain Significance
325077 rs886053392 GRCh37: 17:7350359-7350359
GRCh38: 17:7447040-7447040

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 CHRNE p.Arg167Leu VAR_000290 rs121909514
2 CHRNE p.Pro265Leu VAR_000291 rs759226183
3 CHRNE p.Arg331Trp VAR_000294 rs121909515

Expression for Myasthenic Syndrome, Congenital, 4c, Associated with...

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency.

Pathways for Myasthenic Syndrome, Congenital, 4c, Associated with...

Pathways related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 MUSK CSF1R CHRNG CHRNE CHRND CHRNB1
2
Show member pathways
10.98 CHRNG CHRNE CHRND
3 9.88 CHRNE CHRND CHRNB1

GO Terms for Myasthenic Syndrome, Congenital, 4c, Associated with...

Cellular components related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005887 10.39 CHRNB1 CHRND CHRNE CHRNG CSF1R ECEL1
2 plasma membrane GO:0005886 10.39 CHRNB1 CHRND CHRNE CHRNG CSF1R ECEL1
3 neuron projection GO:0043005 10.13 CHRNG CHRNE CHRND CHRNB1 CHAT
4 synapse GO:0045202 10.1 CHAT CHRNB1 CHRND CHRNE CHRNG MUSK
5 cellular anatomical entity GO:0110165 9.71 CHRNG CHRNE CHRND CHRNB1
6 postsynaptic membrane GO:0045211 9.65 RAPSN MUSK CHRNG CHRNE CHRND CHRNB1
7 acetylcholine-gated channel complex GO:0005892 9.63 CHRNE CHRND CHRNB1
8 postsynaptic specialization membrane GO:0099634 9.56 RAPSN CHRND CHRNB1
9 obsolete integral component of postsynaptic specialization membrane GO:0099060 9.46 CHRND CHRNB1
10 neuromuscular junction GO:0031594 9.32 RAPSN MUSK CHRNE CHRND CHRNB1

Biological processes related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 10.1 RAPSN CHRNG CHRNE CHRND CHRNB1
2 monoatomic ion transmembrane transport GO:0034220 10.06 CHRNG CHRNE CHRND CHRNB1
3 regulation of membrane potential GO:0042391 9.97 CHRNG CHRNE CHRND CHRNB1
4 excitatory postsynaptic potential GO:0060079 9.92 CHRNB1 CHRND CHRNE CHRNG
5 muscle contraction GO:0006936 9.86 CHRNG CHRNE CHRND CHRNB1
6 nervous system process GO:0050877 9.76 CHRNG CHRNE CHRND CHRNB1
7 UDP-N-acetylglucosamine metabolic process GO:0006047 9.73 SLC35A3 GFPT1
8 regulation of postsynaptic membrane potential GO:0060078 9.26 CHRNG CHRNE CHRND CHRNB1
9 synaptic transmission, cholinergic GO:0007271 9.23 RAPSN CHRNG CHRNE CHRNB1

Molecular functions related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter receptor activity GO:0030594 9.97 CHRNG CHRNE CHRND CHRNB1
2 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.86 CHRNB1 CHRND CHRNE CHRNG
3 transmembrane signaling receptor activity GO:0004888 9.85 CHRNG CHRNE CHRND CHRNB1
4 acetylcholine receptor activity GO:0015464 9.8 CHRNG CHRNE CHRNB1
5 excitatory extracellular ligand-gated monoatomic ion channel activity GO:0005231 9.76 CHRNG CHRNE CHRND CHRNB1
6 acetylcholine binding GO:0042166 9.73 CHRND CHRNB1
7 monoatomic ion channel activity GO:0005216 9.71 CHRNG CHRNE CHRND CHRNB1
8 extracellular ligand-gated monoatomic ion channel activity GO:0005230 9.26 CHRNG CHRNE CHRND CHRNB1
9 acetylcholine-gated monoatomic cation-selective channel activity GO:0022848 9.23 CHRNG CHRNE CHRND CHRNB1

Sources for Myasthenic Syndrome, Congenital, 4c, Associated with...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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