CMS4C
MCID: MYS061
MIFTS: 51

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

Categories: Genetic diseases, Muscle diseases, Neuronal diseases

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 12 29 6 15
Cms4c 57 12 73
Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency 73 71
Congenital Myasthenic Syndrome Type Id 12 73
Cms Id 12 73
Cms1d 12 73
Fim1 12 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 39
Congenital Myasthenic Syndrome 4c Associated with Acetylcholine Receptor Deficiency 12
Myasthenia, Familial Infantile, 1, Formerly; Fim1, Formerly 57
Myasthenic Syndrome, Congenital, Type Id; Cms1d, Formerly 57
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 12
Cms Id, Formerly 57
Cms1d, Formerly 57
Fim1, Formerly 57
Cms-Achrd 73
Cms Ie 73
Cms1e 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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:

31
myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset nonprogressive


Classifications:



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

UniProtKB/Swiss-Prot : 73 Myasthenic syndrome, congenital, 4C, 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. 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 congenital myasthenic syndrome associated with acetylcholine receptor deficiency and myasthenic syndrome, congenital, 4a, slow-channel, 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 PAK Pathway and RNA Polymerase II Transcription Initiation And Promoter Clearance. The drugs Selenium and Nutrients have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and tongue, and related phenotypes are ptosis and dysarthria

Disease Ontology : 12 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.

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 05-Mar-2021)

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

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:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 dysarthria 31 HP:0001260
3 dysphagia 31 HP:0002015
4 facial palsy 31 HP:0010628
5 high palate 31 HP:0000218
6 mandibular prognathia 31 HP:0000303
7 dental malocclusion 31 HP:0000689
8 decreased muscle mass 31 HP:0003199
9 skeletal muscle atrophy 31 HP:0003202
10 strabismus 31 HP:0000486
11 respiratory insufficiency due to muscle weakness 31 HP:0002747
12 motor delay 31 HP:0001270
13 easy fatigability 31 HP:0003388
14 abnormality of the immune system 31 HP:0002715
15 long face 31 HP:0000276
16 decreased fetal movement 31 HP:0001558
17 ophthalmoparesis 31 HP:0000597
18 arthrogryposis multiplex congenita 31 HP:0002804
19 feeding difficulties 31 HP:0011968
20 weak cry 31 HP:0001612
21 generalized hypotonia 31 HP:0001290
22 muscle spasm 31 HP:0003394
23 fatigable weakness 31 HP:0003473
24 gowers sign 31 HP:0003391
25 type 2 muscle fiber atrophy 31 HP:0003554
26 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 31 HP:0003403
27 decreased size of nerve terminals 31 HP:0003443

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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:
easy fatigability
gowers sign
hypotonia
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 05-Mar-2021)

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


ophthalmoparesis, muscle cramp, facial paresis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.02 CSF1R ARPC5
2 Decreased cell migration GR00055-A-3 9.02 MUSK

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.5 ACTN4 CHAT CHRNE GFPT1 MUSK RAPSN
2 nervous system MP:0003631 9.36 ACTN4 ANLN CFL1 CHAT CHRNE CSF1R

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

Drugs for Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Selenium Approved, Investigational, Vet_approved 7782-49-2
2 Nutrients
3 Protective Agents
4 Trace Elements
5 Antioxidants
6 Micronutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 GRAves Selenium Supplementation Trial (GRASS) - an Investigator-initiated Randomised, Blinded, Multicentre Clinical Trial of Selenium Supplementation Versus Placebo in Patients With Graves' Hyperthyroidism Active, not recruiting NCT01611896

Search 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 29 CHRNE GFPT1

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

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

40
Skeletal Muscle, Tongue

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

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

(show all 33)
# Title Authors PMID Year
1
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. 57 6
19064877 2008
2
Congenital myasthenic syndromes. 6 57
15367858 2004
3
Mutation history of the roma/gypsies. 57 6
15322984 2004
4
Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. 57 6
11030414 2000
5
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. 57 6
10534268 1999
6
Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. 57 6
10514102 1999
7
Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene. 6 57
10496269 1999
8
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. 6 57
10211467 1999
9
Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency. 6 57
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 6
9158150 1997
11
Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. 6 57
9097970 1997
12
End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. 6 57
8957026 1996
13
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 57
25792100 2015
14
An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. 6
16087917 2005
15
A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition. 57
15471888 2004
16
Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations. 57
12034803 2002
17
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. 6
8755487 1996
18
Congenital myasthenia: further evidence of disease heterogeneity. 57
3010100 1986
19
Inheritance of congenital myasthenia gravis in smooth fox terrier dogs. 57
6736601 1984
20
Cooperation between tropomyosin and α-actinin inhibits fimbrin association with actin filament networks in fission yeast. 61
31180322 2019
21
Kluyveromyces marxianus developing ethanol tolerance during adaptive evolution with significant improvements of multiple pathways. 61
30949239 2019
22
Mutational Mtc6p attenuates autophagy and improves secretory expression of heterologous proteins in Kluyveromyces marxianus. 61
30217195 2018
23
Investigation of the Fim1 putative pilus locus of Streptococcus equi subspecies equi. 61
28749324 2017
24
Analysis of diarrheagenic potential of uropathogenic Escherichia coli isolates in Dhaka, Bangladesh. 61
30951507 2017
25
Competition between Tropomyosin, Fimbrin, and ADF/Cofilin drives their sorting to distinct actin filament networks. 61
28282023 2017
26
FIMBRIN1 is involved in lily pollen tube growth by stabilizing the actin fringe. 61
23150633 2012
27
α-Actinin and fimbrin cooperate with myosin II to organize actomyosin bundles during contractile-ring assembly. 61
22740629 2012
28
Actin filament bundling by fimbrin is important for endocytosis, cytokinesis, and polarization in fission yeast. 61
21642440 2011
29
Handgrip strength of the elderly after hip fracture repair correlates with functional outcome. 61
20025431 2010
30
Interactions among a fimbrin, a capping protein, and an actin-depolymerizing factor in organization of the fission yeast actin cytoskeleton. 61
11694585 2001
31
Roles of a fimbrin and an alpha-actinin-like protein in fission yeast cell polarization and cytokinesis. 61
11294907 2001
32
The construction of the first balancer chromosome for the Mediterranean fruit fly, Ceratitis capitata. 61
11016842 2000
33
The human homologues of Fim1, Fim2/c-Fms, and Fim3, three retroviral integration regions involved in mouse myeloblastic leukemias, are respectively located on chromosomes 6p23, 5q33, and 3q27. 61
2921036 1989

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

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

6 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHRNE NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) SNV Pathogenic 18345 rs121909514 17:4805227-4805227 17:4901932-4901932
2 CHRNE NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter) SNV Pathogenic 18347 rs121909513 17:4805606-4805606 17:4902311-4902311
3 CHRNE NM_000080.4(CHRNE):c.971del (p.Ile324fs) Deletion Pathogenic 18348 rs879255562 17:4802824-4802824 17:4899529-4899529
4 CHRNE NM_000080.4(CHRNE):c.344+1G>A SNV Pathogenic 18349 rs879253722 17:4805511-4805511 17:4902216-4902216
5 CHRNE NM_000080.4(CHRNE):c.1030del (p.His344fs) Deletion Pathogenic 18350 rs879253723 17:4802765-4802765 17:4899470-4899470
6 CHRNE NM_000080.4(CHRNE):c.-11-85C>T SNV Pathogenic 18353 rs748144899 17:4806454-4806454 17:4903159-4903159
7 CHRNE NM_000080.4(CHRNE):c.1327del Deletion Pathogenic 243031 rs763258280 17:4802186-4802186 17:4898891-4898891
8 CHRNE NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter) Insertion Pathogenic 18355 rs886037628 17:4802550-4802551 17:4899255-4899256
9 CHRNE NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) Deletion Pathogenic 18357 rs753828284 17:4804467-4804473 17:4901172-4901178
10 CHRNE NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) SNV Pathogenic 18358 rs121909515 17:4802804-4802804 17:4899509-4899509
11 CHRNE NM_000080.4(CHRNE):c.501-16G>A SNV Pathogenic 18362 rs879255563 17:4804936-4804936 17:4901641-4901641
12 CHRNE NM_000080.4(CHRNE):c.1033-2A>T SNV Pathogenic 189225 rs786204773 17:4802681-4802681 17:4899386-4899386
13 MUSK NM_005592.4(MUSK):c.79+2T>G SNV Pathogenic 211542 rs200783529 9:113431265-113431265 9:110668985-110668985
14 CHRNE NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs) Deletion Pathogenic 623392 rs1567636493 17:4802613-4802631 17:4899318-4899336
15 RAPSN NM_005055.5(RAPSN):c.193-2A>C SNV Pathogenic 813472 rs1595902947 11:47469704-47469704 11:47448152-47448152
16 CHRNE NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) SNV Pathogenic 282036 rs144169073 17:4806002-4806002 17:4902707-4902707
17 RAPSN NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) SNV Pathogenic 8046 rs104894299 11:47469631-47469631 11:47448079-47448079
18 CHRNE NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) Duplication Pathogenic 243032 rs773526895 17:4802159-4802160 17:4898864-4898865
19 CHRNE NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) SNV Likely pathogenic 18359 rs372635387 17:4806322-4806322 17:4903027-4903027
20 CHRNE NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) SNV Likely pathogenic 18360 rs121909516 17:4805239-4805239 17:4901944-4901944
21 CHRNE NM_000080.4(CHRNE):c.1326+1G>A SNV Likely pathogenic 488482 rs1430654625 17:4802295-4802295 17:4899000-4899000
22 CHAT NM_020549.4(CHAT):c.982del (p.Asp328fs) Deletion Likely pathogenic 813415 rs1590576560 10:50835698-50835698 10:49627652-49627652
23 CHAT NM_020549.4(CHAT):c.1715C>A (p.Ser572Ter) SNV Likely pathogenic 813416 rs753652169 10:50863221-50863221 10:49655175-49655175
24 RAPSN NM_005055.5(RAPSN):c.524A>G (p.Gln175Arg) SNV Likely pathogenic 242500 rs863224912 11:47469371-47469371 11:47447819-47447819
25 MUSK NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) SNV Likely pathogenic 211541 rs375737188 9:113457698-113457698 9:110695418-110695418
26 CHRNB1 NM_000747.3(CHRNB1):c.531G>A (p.Ser177=) SNV Uncertain significance 325078 rs886053393 17:7350890-7350890 17:7447571-7447571
27 CHRNB1 NM_000747.3(CHRNB1):c.305G>C (p.Arg102Pro) SNV Uncertain significance 325076 rs201915086 17:7350213-7350213 17:7446894-7446894
28 CHRNB1 NM_000747.3(CHRNB1):c.*71C>T SNV Uncertain significance 325110 rs886053405 17:7360113-7360113 17:7456794-7456794
29 CHRNB1 NM_000747.3(CHRNB1):c.342G>A (p.Val114=) SNV Uncertain significance 197164 rs75019736 17:7350250-7350250 17:7446931-7446931
30 CHRNB1 NM_000747.3(CHRNB1):c.-19C>T SNV Uncertain significance 325072 rs550926134 17:7348428-7348428 17:7445109-7445109
31 CHRNB1 NM_000747.3(CHRNB1):c.*18C>T SNV Uncertain significance 256770 rs79747991 17:7360060-7360060 17:7456741-7456741
32 CHRNB1 NM_000747.3(CHRNB1):c.565G>A (p.Gly189Arg) SNV Uncertain significance 325079 rs555348704 17:7350924-7350924 17:7447605-7447605
33 CHRNB1 NM_000747.3(CHRNB1):c.*778C>T SNV Uncertain significance 325116 rs556525486 17:7360820-7360820 17:7457501-7457501
34 CHRNB1 NM_000747.3(CHRNB1):c.903C>T (p.Thr301=) SNV Uncertain significance 325101 rs117168441 17:7357698-7357698 17:7454379-7454379
35 CHRNB1 NM_000747.3(CHRNB1):c.680G>A (p.Gly227Glu) SNV Uncertain significance 325092 rs886053399 17:7351967-7351967 17:7448648-7448648
36 CHRNB1 NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala) SNV Uncertain significance 325107 rs202144045 17:7359120-7359120 17:7455801-7455801
37 CHRNB1 NM_000747.3(CHRNB1):c.1087C>A (p.Pro363Thr) SNV Uncertain significance 325104 rs886053402 17:7358645-7358645 17:7455326-7455326
38 CHRNB1 NM_000747.3(CHRNB1):c.*31C>T SNV Uncertain significance 325108 rs75282248 17:7360073-7360073 17:7456754-7456754
39 CHRNB1 NM_000747.3(CHRNB1):c.*136T>C SNV Uncertain significance 325111 rs182995220 17:7360178-7360178 17:7456859-7456859
40 CHRNB1 NM_000747.3(CHRNB1):c.278C>G (p.Ala93Gly) SNV Uncertain significance 325075 rs753646145 17:7350186-7350186 17:7446867-7446867
41 CHRNB1 NM_000747.3(CHRNB1):c.354-3C>T SNV Uncertain significance 325077 rs886053392 17:7350359-7350359 17:7447040-7447040
42 CHRNB1 NM_000747.3(CHRNB1):c.*749C>T SNV Uncertain significance 325114 rs760896819 17:7360791-7360791 17:7457472-7457472
43 CHRNB1 NM_000747.3(CHRNB1):c.*843G>C SNV Uncertain significance 325117 rs886053406 17:7360885-7360885 17:7457566-7457566
44 CHRNB1 NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala) SNV Uncertain significance 523042 rs759668768 17:7348697-7348697 17:7445378-7445378
45 CHRNE NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) SNV Uncertain significance 323995 rs148370803 17:4804915-4804915 17:4901620-4901620
46 CHRNB1 NM_000747.3(CHRNB1):c.669T>C (p.Asp223=) SNV Uncertain significance 888587 17:7351956-7351956 17:7448637-7448637
47 CHRNE NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys) SNV Uncertain significance 284315 rs757968612 17:4802670-4802670 17:4899375-4899375
48 CHRNB1 NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter) SNV Uncertain significance 476151 rs201033437 17:7350875-7350875 17:7447556-7447556
49 CHRNB1 NM_000747.3(CHRNB1):c.605dup (p.Ile203fs) Duplication Uncertain significance 631787 rs1447564693 17:7350961-7350962 17:7447642-7447643
50 CHRNB1 NM_000747.3(CHRNB1):c.1044+9G>A SNV Uncertain significance 325103 rs143871421 17:7357848-7357848 17:7454529-7454529

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:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 CSF1R CFL1 ACTN4 ACTN3 ACTN2 ACTN1
2
Show member pathways
12.83 CFL1 ARPC5 ACTN4 ACTN3 ACTN2 ACTN1
3
Show member pathways
12.74 VAMP1 EXOC7 CFL1 ACTN4 ACTN3 ACTN2
4 12.42 CFL1 ARPC5 ACTN4 ACTN1
5
Show member pathways
12.39 CFL1 ARPC5 ACTN4 ACTN3 ACTN2 ACTN1
6
Show member pathways
12.36 CFL1 ARPC5 ACTN4 ACTN3 ACTN2 ACTN1
7 12.33 DBN1 CFL1 ACTN4 ACTN1
8
Show member pathways
12.25 ACTN4 ACTN3 ACTN2 ACTN1
9
Show member pathways
12.2 MUSK EXOC7 CSF1R CFL1 ARPC5
10
Show member pathways
11.98 CFL1 ARPC5 ACTN4 ACTN3 ACTN2 ACTN1
11 11.96 ACTN4 ACTN3 ACTN2 ACTN1
12 11.87 ACTN4 ACTN3 ACTN2 ACTN1
13 11.59 TMOD4 ACTN4 ACTN3 ACTN2
14 11.16 ACTN4 ACTN3 ACTN2 ACTN1
15 10.76 ACTN4 ACTN3 ACTN2 ACTN1
16 10.27 ACTN4 ACTN3 ACTN2 ACTN1

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.29 VAMP1 TRAPPC9 RAPSN GFPT1 EXOC7 CHAT
2 cytoskeleton GO:0005856 9.91 TMOD4 RAPSN DBN1 CFL1 ARPC5 ANLN
3 neuron projection GO:0043005 9.85 VAMP1 CHRNE CHAT ARPC5 ACTN4
4 focal adhesion GO:0005925 9.8 CFL1 ARPC5 ACTN4 ACTN3 ACTN2 ACTN1
5 actin cytoskeleton GO:0015629 9.77 DBN1 CFL1 ARPC5 ANLN ACTN4
6 cell junction GO:0030054 9.76 VAMP1 RAPSN MUSK FMN1 DBN1 CHRNE
7 postsynaptic membrane GO:0045211 9.73 RAPSN MUSK DBN1 CHRNE
8 Z disc GO:0030018 9.7 ACTN3 ACTN2 ACTN1
9 neuromuscular junction GO:0031594 9.67 RAPSN MUSK CHRNE
10 platelet alpha granule lumen GO:0031093 9.65 ACTN4 ACTN2 ACTN1
11 sarcomere GO:0030017 9.58 ACTN3 ACTN2 ACTN1
12 actin filament GO:0005884 9.35 FMN1 DBN1 ACTN3 ACTN2 ACTN1
13 pseudopodium GO:0031143 8.92 ACTN4 ACTN3 ACTN2 ACTN1

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 regulation of apoptotic process GO:0042981 9.62 ACTN4 ACTN3 ACTN2 ACTN1
2 actin filament organization GO:0007015 9.61 TMOD4 DBN1 ACTN1
3 platelet degranulation GO:0002576 9.54 ACTN4 ACTN2 ACTN1
4 synaptic transmission, cholinergic GO:0007271 9.4 RAPSN CHRNE
5 actin filament network formation GO:0051639 9.26 ARPC5 ACTN1
6 positive regulation by host of viral process GO:0044794 9.16 CSF1R CFL1
7 focal adhesion assembly GO:0048041 9.13 ACTN3 ACTN2 ACTN1
8 muscle contraction GO:0006936 8.92 TMOD4 CHRNE ACTN3 ACTN2

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 integrin binding GO:0005178 9.56 ACTN4 ACTN3 ACTN2 ACTN1
2 actin filament binding GO:0051015 9.56 TMOD4 DBN1 CFL1 ARPC5 ACTN4 ACTN3
3 nuclear receptor transcription coactivator activity GO:0030374 9.5 ACTN4 ACTN2 ACTN1
4 ion channel binding GO:0044325 9.46 ACTN4 ACTN3 ACTN2 ACTN1
5 actin binding GO:0003779 9.32 TMOD4 FMN1 DBN1 CFL1 ARPC5 ANLN

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

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....