FIM
MCID: CNG114
MIFTS: 58

Congenital Myasthenic Syndrome with Episodic Apnea (FIM) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

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MalaCards based summary: Congenital Myasthenic Syndrome with Episodic Apnea, also known as congenital myasthenic syndrome, is related to slow-channel congenital myasthenic syndrome and endplate acetylcholinesterase deficiency, and has symptoms including An important gene associated with Congenital Myasthenic Syndrome with Episodic Apnea is CHAT (choline O-acetyltransferase), and among its related pathways are Neurotransmitter Release Cycle and Agrin Interactions at Neuromuscular Junction. The compounds alpha-bungarotoxin and pyruvate have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are respiratory system and muscle.

Descriptions from OMIM:46 254190, 254210, 254300, 601462, 603034 605809, 608930, 608931, 610542, 614198, 614750, 615120 more

Aliases & Classifications for Congenital Myasthenic Syndrome with Episodic Apnea

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Sources:
48Orphanet, 46OMIM, 62UMLS, 42NIH Rare Diseases, 22GTR, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Congenital Myasthenic Syndrome with Episodic Apnea, Aliases & Descriptions:

Name: Congenital Myasthenic Syndrome with Episodic Apnea 42 62
Congenital Myasthenic Syndrome 48 46 62
Myasthenia Familial Infantile 42 22 62
Congenital Myasthenic Syndrome Type 1a 42 62
Cms-Ea 42 62
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 42
Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 46
Myasthenic Syndrome Congenital Associated with Episodic Apnea 42
 
Congenital Myasthenic Syndromes, Presynaptic 62
Presynaptic Congenital Myasthenic Syndromes 48
Myasthenia Gravis Familial Infantile 2 42
Familial Infantile Myasthenia 62
Cms1a 42
Fimg2 42
Fim 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
congenital myasthenic syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

MESH via Orphanet35 D020294
ICD10 via Orphanet26 G70.2
UMLS via Orphanet63 C0751882

Related Diseases for Congenital Myasthenic Syndrome with Episodic Apnea

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Diseases related to Congenital Myasthenic Syndrome with Episodic Apnea via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1slow-channel congenital myasthenic syndrome31.3CHRNB1, CHRNE, CHRNA1, CHRND
2endplate acetylcholinesterase deficiency31.2COLQ
3congenital myasthenic syndrome31.0MUSK, CHRNE, CHAT, RAPSN, COLQ
4myasthenia, limb-girdle, familial30.9DOK7, AGRN
5congenital myasthenic syndrome associated with acetylcholine receptor deficiency30.7RAPSN, CHRNE, MUSK
6myasthenic syndrome, fast-channel congenital30.6CHRND, CHRNA1, CHRNE
7myasthenia gravis30.5AGRN, RAPSN, MUSK, CHRNA1
8myopathy29.5RAPSN, COX10, DOK7, CHRND, CHRNE, CHRNB1
9leigh syndrome due to mitochondrial cox4 deficiency10.5COX10
10fetal akinesia deformation sequence10.4RAPSN, DOK7
11leigh syndrome due to cytochrome c oxidase deficiency10.4COX15
12congenital myasthenic syndrome with tubular aggregates 210.4
13musk-related congenital myasthenic syndrome10.4
14chrna1-related congenital myasthenic syndrome10.4
15myasthenia, familial infantile, 110.3
16chat-related congenital myasthenic syndrome10.3
17chrne-related congenital myasthenic syndrome10.3
18rapsn-related congenital myasthenic syndrome10.3
19colq-related congenital myasthenic syndrome10.3
20scn4a-related congenital myasthenic syndrome10.3
21chrnb1-related congenital myasthenic syndrome10.3
22chrnd-related congenital myasthenic syndrome10.3
23dok7-related congenital myasthenic syndrome10.3
24agrn-related congenital myasthenic syndrome10.3
25gfpt1-related congenital myasthenic syndrome10.3
26myasthenia, congenital, with tubular aggregates 110.3
27cystic lymphangioma10.2CHRND, CHRNG
28hemiplegia10.2
29multiple pterygium syndrome lethal type10.2CHRNA1, CHRND, CHRNG
30nicotine dependence10.2CHRNB1
31lactic acidosis10.1DLD, SURF1
32mitochondrial disorders10.1SURF1, COX10
33cytochrome-c oxidase deficiency disease10.1SURF1, COX10, COX15
34emery-dreifuss muscular dystrophy10.1
35epidermolysis bullosa10.1
36muscular dystrophy10.1
37respiratory failure10.1
38myasthenic syndrome, congenital, with pre- and postsynaptic defects10.1
39leigh disease10.1SURF1, COX15
40myelofibrosis10.0
41tropical spastic paraparesis10.0
42quadriplegia10.0
43neuromuscular disease10.0
44ovarian cancer10.0
45spastic paraparesis10.0
46chronic pain10.0
47spasticity10.0
48neuropathy9.9RAPSN, CHRNB1, CHRNE, CHRND, DOK7

Graphical network of the top 20 diseases related to Congenital Myasthenic Syndrome with Episodic Apnea:



Diseases related to congenital myasthenic syndrome with episodic apnea

Symptoms for Congenital Myasthenic Syndrome with Episodic Apnea

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Symptoms by clinical synopsis from OMIM:

254190

Clinical features from OMIM:

254190, 254210, 254300, 601462, 603034, 605809, 608930, 608931, 610542, 614198 614750, 615120 more

HPO human phenotypes related to Congenital Myasthenic Syndrome with Episodic Apnea:

(show all 25)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 external ophthalmoplegia HP:0000544
3 abnormality of metabolism/homeostasis HP:0001939
4 proximal muscle weakness HP:0003701
5 congenital ptosis HP:0007970
6 autosomal recessive inheritance HP:0000007
7 strabismus HP:0000486
8 ptosis HP:0000508
9 ophthalmoparesis HP:0000597
10 bulbar palsy HP:0001283
11 weak cry HP:0001612
12 dysphagia HP:0002015
13 poor suck HP:0002033
14 respiratory distress HP:0002098
15 abnormality of the immune system HP:0002715
16 respiratory insufficiency due to muscle weakness HP:0002747
17 arthrogryposis multiplex congenita HP:0002804
18 apneic episodes precipitated by illness, fatigue, stress HP:0002872
19 sudden episodic apnea HP:0002882
20 generalized hypotonia due to defect at the neuromuscular junction HP:0003397
21 decreased miniature endplate potentials HP:0003402
22 emg HP:0003403
23 fatigable weakness HP:0003473
24 type 2 muscle fiber atrophy HP:0003554
25 congenital onset HP:0003577

Drugs & Therapeutics for Congenital Myasthenic Syndrome with Episodic Apnea

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Drug clinical trials:

Search ClinicalTrials for Congenital Myasthenic Syndrome with Episodic Apnea

Search NIH Clinical Center for Congenital Myasthenic Syndrome with Episodic Apnea

Genetic Tests for Congenital Myasthenic Syndrome with Episodic Apnea

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Genetic tests related to Congenital Myasthenic Syndrome with Episodic Apnea:

id Genetic test Affiliating Genes
1 Familial Infantile Myasthenia22

Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

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MalaCards organs/tissues related to Congenital Myasthenic Syndrome with Episodic Apnea:

32
Eye

Animal Models for Congenital Myasthenic Syndrome with Episodic Apnea or affiliated genes

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MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome with Episodic Apnea:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7AGRN, RAPSN, DOK7, CHRNG, MUSK, CHRNE
2MP:00053697.5AGRN, RAPSN, COX10, CHRNG, CHRNE, CHAT
3MP:00053786.8CHAT, CHRNE, CHRNG, COX10, MUSK, COLQ
4MP:00036316.7RAPSN, SURF1, MUSK, CHRNB1, CHAT, CHRNA1
5MP:00053866.5SURF1, MUSK, CHAT, CHRNE, CHRNA1, CHRNG
6MP:00107685.9AGRN, SCN4A, SURF1, MUSK, CHAT, CHRNE

Publications for Congenital Myasthenic Syndrome with Episodic Apnea

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Articles related to Congenital Myasthenic Syndrome with Episodic Apnea:

idTitleAuthorsYear
1
Congenital myasthenic syndrome with episodic apnea. (19520274)
2009
2
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. (15701560)
2005
3
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. (12756141)
2003

Variations for Congenital Myasthenic Syndrome with Episodic Apnea

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UniProtKB/Swiss-Prot genetic disease variations for Congenital Myasthenic Syndrome with Episodic Apnea:

64
id Symbol AA change Variation ID SNP ID
1CHATp.Leu210ProVAR_011666rs28930071
2CHATp.Pro211AlaVAR_011667
3CHATp.Ile305ThrVAR_011668rs28929482
4CHATp.Arg420CysVAR_011669
5CHATp.Glu441LysVAR_011670rs28930070
6CHATp.Arg482GlyVAR_011671rs28929481
7CHATp.Ser498LeuVAR_011672
8CHATp.Val506LeuVAR_011673
9CHATp.Arg560HisVAR_011674
10CHATp.Ile336ThrVAR_038605

Clinvar genetic disease variations for Congenital Myasthenic Syndrome with Episodic Apnea:

6 (show all 128)
id Gene Name Type Significance SNP ID Assembly Location
1AGRNNM_198576.3(AGRN): c.5179G> T (p.Val1727Phe)single nucleotide variantPathogenicGRCh37Chr 1, 986143: 986143
2AGRNNM_198576.3(AGRN): c.1057C> T (p.Gln353Ter)single nucleotide variantPathogenicGRCh37Chr 1, 976962: 976962
3DOK7DOK7, 4-BP DUP, 1124TGCCduplicationPathogenic
4DOK7DOK7, 1-BP INS, 1263CinsertionPathogenic
5DOK7DOK7, 4-BP DEL, 548TCCTdeletionPathogenic
6SURF1SURF1, 765C-Tsingle nucleotide variantPathogenic
7SURF1SURF1, IVS4, T-C, +2single nucleotide variantPathogenic
8SURF1SURF1, 2-BP INS/10-BP DEL, NT326indelPathogenic
9DOK7DOK7, 4-BP DUP, 1339CTGGduplicationPathogenic
10SURF1SURF1, 2-BP DEL, 855CTdeletionPathogenic
11SURF1SURF1, 1-BP INS, 882TinsertionPathogenic
12SURF1NM_003172.3(SURF1): c.751C> T (p.Gln251Ter)single nucleotide variantPathogenicrs121918657GRCh37Chr 9, 136219301: 136219301
13SURF1SURF1, 1-BP INS, 868TinsertionPathogenic
14SURF1SURF1, IVS5DS, T-G, +2single nucleotide variantPathogenic
15SURF1SURF1, 2-BP DEL, 550AGdeletionPathogenic
16SURF1NM_003172.3(SURF1): c.820T> G (p.Tyr274Asp)single nucleotide variantPathogenicrs121918658GRCh37Chr 9, 136218929: 136218929
17SURF1SURF1, 2-BP DEL, 790AGdeletionPathogenic
18SURF1NM_003172.3(SURF1): c.371G> A (p.Gly124Glu)single nucleotide variantPathogenicrs28933402GRCh37Chr 9, 136220748: 136220748
19SURF1SURF1, 4-BP INS, 572CCCTinsertionPathogenic
20DOK7DOK7, 1-BP INS, 1143CinsertionPathogenic
21SURF1SURF1, 2-BP DEL, 845CTdeletionPathogenic
22DOK7NM_173660.4(DOK7): c.539G> C (p.Gly180Ala)single nucleotide variantPathogenicrs118203994GRCh37Chr 4, 3487272: 3487272
23DOK7NM_173660.4(DOK7): c.601C> T (p.Arg201Ter)single nucleotide variantPathogenicrs118203995GRCh37Chr 4, 3487334: 3487334
24DOK7DOK7, IVS2, G-T, -1single nucleotide variantPathogenic
25DOK7DOK7, 1-BP INS, 1378CinsertionPathogenic
26CHRNA1NM_001039523.2(CHRNA1): c.812C> A (p.Ser271Tyr)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
27CHRNA1NM_001039523.2(CHRNA1): c.812C> T (p.Ser271Phe)single nucleotide variantPathogenicrs483353046GRCh37Chr 2, 175618272: 175618272
28NM_000080.3(CHRNE): c.421C> A (p.Pro141Thr)single nucleotide variantPathogenicrs483353045GRCh37Chr 17, 4805306: 4805306
29CHATCHAT, 2-BP INS, 523CCinsertionPathogenic
30CHATNM_020549.4(CHAT): c.631C> G (p.Pro211Ala)single nucleotide variantPathogenicrs121912815GRCh37Chr 10, 50828592: 50828592
31CHATNM_020549.4(CHAT): c.1321G> A (p.Glu441Lys)single nucleotide variantPathogenicrs121912816GRCh37Chr 10, 50856592: 50856592
32CHATNM_020549.4(CHAT): c.1516G> T (p.Val506Leu)single nucleotide variantPathogenicrs121912817GRCh37Chr 10, 50859934: 50859934
33CHATNM_020549.4(CHAT): c.1444A> G (p.Arg482Gly)single nucleotide variantPathogenicrs121912818GRCh37Chr 10, 50857615: 50857615
34CHATNM_020549.4(CHAT): c.1679G> A (p.Arg560His)single nucleotide variantPathogenicrs121912819GRCh37Chr 10, 50863185: 50863185
35CHATNM_020549.4(CHAT): c.629T> C (p.Leu210Pro)single nucleotide variantPathogenicrs121912820GRCh37Chr 10, 50828590: 50828590
36CHATNM_020549.4(CHAT): c.1493C> T (p.Ser498Leu)single nucleotide variantPathogenicrs121912821GRCh37Chr 10, 50857664: 50857664
37CHATNM_020549.4(CHAT): c.914T> C (p.Ile305Thr)single nucleotide variantPathogenicrs75466054GRCh37Chr 10, 50833680: 50833680
38CHATNM_020549.4(CHAT): c.1258C> T (p.Arg420Cys)single nucleotide variantPathogenicrs121912822GRCh37Chr 10, 50854697: 50854697
39CHATNM_020549.4(CHAT): c.1007T> C (p.Ile336Thr)single nucleotide variantPathogenicrs121912823GRCh37Chr 10, 50835727: 50835727
40AGRNNM_198576.3(AGRN): c.5125G> C (p.Gly1709Arg)single nucleotide variantPathogenicrs199476396GRCh37Chr 1, 985955: 985955
41NM_000080.3(CHRNE): c.850A> C (p.Thr284Pro)single nucleotide variantPathogenicrs121909510GRCh37Chr 17, 4804155: 4804155
42NM_000080.3(CHRNE): c.865C> T (p.Leu289Phe)single nucleotide variantPathogenicrs121909511GRCh37Chr 17, 4804140: 4804140
43NM_000080.3(CHRNE): c.500G> T (p.Arg167Leu)single nucleotide variantPathogenicrs121909514GRCh37Chr 17, 4805227: 4805227
44NM_000080.3(CHRNE): c.422C> T (p.Pro141Leu)single nucleotide variantPathogenicrs121909512GRCh37Chr 17, 4805305: 4805305
45NM_000080.3(CHRNE): c.250C> T (p.Arg84Ter)single nucleotide variantPathogenicrs121909513GRCh37Chr 17, 4805606: 4805606
46CHRNECHRNE, 1-BP DEL, 911TdeletionPathogenic
47CHRNECHRNE, IVS4DS, G-A, +1single nucleotide variantPathogenic
48CHRNECHRNE, 1-BP DEL, 1030CdeletionPathogenic
49NM_000080.3(CHRNE): c.721C> T (p.Leu241Phe)single nucleotide variantPathogenicrs28999110GRCh37Chr 17, 4804366: 4804366
50CHRNECHRNE, 156C-Tsingle nucleotide variantPathogenic
51CHRNECHRNE, 1-BP DEL, 1267GdeletionPathogenic
52CHRNECHRNE, 1-BP INS, 1101TinsertionPathogenic
53CHRNECHRNE, 1-BP INS, 1293GinsertionPathogenic
54CHRNECHRNE, 7-BP DEL, 553deletionPathogenic
55CHRNENM_000080.3(CHRNE): c.991C> T (p.Arg331Trp)single nucleotide variantPathogenicrs121909515GRCh37Chr 17, 4802804: 4802804
56CHRNENM_000080.3(CHRNE): c.37G> A (p.Gly13Arg)single nucleotide variantPathogenicrs372635387GRCh37Chr 17, 4806322: 4806322
57NM_000080.3(CHRNE): c.488C> T (p.Ser163Leu)single nucleotide variantPathogenicrs121909516GRCh37Chr 17, 4805239: 4805239
58CHRNENM_000080.3(CHRNE): c.1291G> C (p.Ala431Pro)single nucleotide variantPathogenicrs121909517GRCh37Chr 17, 4802331: 4802331
59CHRNECHRNE, IVS5AS, G-A, -16single nucleotide variantPathogenic
60CHRNDNM_000751.2(CHRND): c.866C> T (p.Ser289Phe)single nucleotide variantPathogenicrs121909502GRCh37Chr 2, 233396107: 233396107
61CHRNDNM_000751.2(CHRND): c.812C> A (p.Pro271Gln)single nucleotide variantPathogenicrs121909503GRCh37Chr 2, 233394841: 233394841
62CHRNDNM_000751.2(CHRND): c.236T> A (p.Ile79Lys)single nucleotide variantPathogenicrs121909509GRCh37Chr 2, 233392148: 233392148
63CHRNDNM_000751.2(CHRND): c.238G> A (p.Glu80Lys)single nucleotide variantPathogenicrs121909504GRCh37Chr 2, 233392150: 233392150
64CHRNDCHRND, 2-BP DEL, 756AGdeletionPathogenic
65CHRNDNM_000751.2(CHRND): c.188T> C (p.Leu63Pro)single nucleotide variantPathogenicrs121909508GRCh37Chr 2, 233391374: 233391374
66CHRNB1NM_000747.2(CHRNB1): c.865G> A (p.Val289Met)single nucleotide variantPathogenicrs137852810GRCh37Chr 17, 7357660: 7357660
67CHRNB1NM_000747.2(CHRNB1): c.853C> A (p.Leu285Met)single nucleotide variantPathogenicrs137852811GRCh37Chr 17, 7357648: 7357648
68CHRNB1CHRNB1, 9-BP DEL, NT1276deletionPathogenic
69CHRNB1CHRNB1, EX8DELdeletionPathogenic
70CHRNA1NM_001039523.2(CHRNA1): c.786C> G (p.Asn262Lys)single nucleotide variantPathogenicrs137852798GRCh37Chr 2, 175618298: 175618298
71CHRNA1NM_001039523.2(CHRNA1): c.601G> A (p.Val201Met)single nucleotide variantPathogenicrs137852799GRCh37Chr 2, 175618961: 175618961
72CHRNA1NM_001039523.2(CHRNA1): c.896C> T (p.Thr299Ile)single nucleotide variantPathogenicrs137852800GRCh37Chr 2, 175614855: 175614855
73CHRNA1NM_001039523.2(CHRNA1): c.592G> A (p.Gly198Ser)single nucleotide variantPathogenicrs137852801GRCh37Chr 2, 175618970: 175618970
74CHRNA1NM_001039523.2(CHRNA1): c.941G> T (p.Ser314Ile)single nucleotide variantPathogenicrs137852802GRCh37Chr 2, 175614810: 175614810
75CHRNA1NM_001039523.2(CHRNA1): c.880G> T (p.Val294Phe)single nucleotide variantPathogenicrs137852803GRCh37Chr 2, 175614871: 175614871
76CHRNA1NM_001039523.2(CHRNA1): c.988G> A (p.Val330Ile)single nucleotide variantPathogenicrs137852804GRCh37Chr 2, 175614763: 175614763
77CHRNA1NM_001039523.2(CHRNA1): c.832T> G (p.Phe278Val)single nucleotide variantPathogenicrs137852805GRCh37Chr 2, 175618252: 175618252
78CHRNA1NM_001039523.2(CHRNA1): c.901T> C (p.Phe301Leu)single nucleotide variantPathogenicrs137852806GRCh37Chr 2, 175614850: 175614850
79CHRNA1NM_001039523.2(CHRNA1): c.529G> C (p.Val177Leu)single nucleotide variantPathogenicrs137852807GRCh37Chr 2, 175619033: 175619033
80CHRNA1CHRNA1, 1-BP DEL, 381CdeletionPathogenic
81CHRNA1NM_001039523.2(CHRNA1): c.1389C> G (p.Cys463Trp)single nucleotide variantPathogenicrs137852808GRCh37Chr 2, 175612912: 175612912
82CHRNA1CHRNA1, IVS3AS, G-A, -8single nucleotide variantPathogenic
83CHRNA1CHRNA1, ARG313TRPundetermined variantPathogenic
84GFPT1NM_001244710.1(GFPT1): c.331C> T (p.Arg111Cys)single nucleotide variantPathogenicrs201322234GRCh37Chr 2, 69590695: 69590695
85GFPT1GFPT1, 1-BP INS, 222AinsertionPathogenic
86GFPT1GFPT1, TRP240TERsingle nucleotide variantPathogenic
87GFPT1GFPT1, ASP348TYRsingle nucleotide variantPathogenic
88GFPT1NM_001244710.1(GFPT1): c.43A> G (p.Thr15Ala)single nucleotide variantPathogenicrs387906638GRCh37Chr 2, 69601210: 69601210
89GFPT1GFPT1, 1-BP DEL, NT621deletionPathogenic
90SURF1NM_003172.3(SURF1): c.679T> C (p.Trp227Arg)single nucleotide variantPathogenicrs398122806GRCh37Chr 9, 136219373: 136219373
91MUSKNM_005592.3(MUSK): c.1031C> G (p.Pro344Arg)single nucleotide variantPathogenicrs387906803GRCh37Chr 9, 113530210: 113530210
92DPAGT1NM_001382.3(DPAGT1): c.349G> A (p.Val117Ile)single nucleotide variantPathogenicrs387907243GRCh37Chr 11, 118971487: 118971487
93DPAGT1NM_001382.3(DPAGT1): c.324G> C (p.Met108Ile)single nucleotide variantPathogenicrs376039938GRCh37Chr 11, 118971512: 118971512
94DPAGT1NM_001382.3(DPAGT1): c.699dupC (p.Thr234Hisfs)duplicationPathogenicrs397515321GRCh37Chr 11, 118969142: 118969142
95DPAGT1NM_001382.3(DPAGT1): c.358C> A (p.Leu120Met)single nucleotide variantPathogenicrs387907244GRCh37Chr 11, 118971478: 118971478
96DPAGT1NM_001382.3(DPAGT1): c.791T> G (p.Val264Gly)single nucleotide variantPathogenicrs387907245GRCh37Chr 11, 118968691: 118968691
97NM_000080.3(CHRNE): c.223T> C (p.Trp75Arg)single nucleotide variantPathogenicrs193919341GRCh37Chr 17, 4805756: 4805756
98COX15NM_004376.5(COX15): c.1030T> C (p.Ser344Pro)single nucleotide variantPathogenicrs397514662GRCh37Chr 10, 101476176: 101476176
99COX15COX15, SER151TERundetermined variantPathogenic
100TACO1NM_016360.3(TACO1): c.472dupC (p.His158Profs)duplicationPathogenicGRCh37Chr 17, 61683757: 61683758
101SCN4ANM_000334.4(SCN4A): c.4325T> A (p.Val1442Glu)single nucleotide variantPathogenicrs121908553GRCh37Chr 17, 62019317: 62019317
102MUSKMUSK, MET605ILEundetermined variantPathogenic
103MUSKNM_005592.3(MUSK): c.2180C> T (p.Ala727Val)single nucleotide variantPathogenicrs397515450GRCh37Chr 9, 113562838: 113562838
104COLQCOLQ, 215-BP DEL, NT107deletionPathogenic
105COLQNM_005677.3(COLQ): c.640G> T (p.Glu214Ter)single nucleotide variantPathogenicrs104893733GRCh37Chr 3, 15512120: 15512120
106COLQNM_005677.3(COLQ): c.506C> G (p.Ser169Ter)single nucleotide variantPathogenicrs104893734GRCh37Chr 3, 15516954: 15516954
107COLQNM_005677.3(COLQ): c.844A> T (p.Arg282Ter)single nucleotide variantPathogenicrs121908922GRCh37Chr 3, 15499803: 15499803
108COLQCOLQ, 1-BP DEL, 1082CdeletionPathogenic
109COLQCOLQ, 1-BP INS, 788CinsertionPathogenic
110COLQNM_005677.3(COLQ): c.1289A> C (p.Tyr430Ser)single nucleotide variantPathogenicrs121908923GRCh37Chr 3, 15495345: 15495345
111COLQNM_005677.3(COLQ): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs121908924GRCh37Chr 3, 15499704: 15499704
112COLQCOLQ, IVS16DS, A-G, +3single nucleotide variantPathogenic
113COLQNM_005677.3(COLQ): c.718G> T (p.Gly240Ter)single nucleotide variantPathogenicrs104893735GRCh37Chr 3, 15507944: 15507944
114COX10NM_001303.3(COX10): c.1007A> T (p.Asp336Val)single nucleotide variantPathogenicrs104894557GRCh37Chr 17, 14110205: 14110205
115COX10NM_001303.3(COX10): c.1007A> G (p.Asp336Gly)single nucleotide variantPathogenicrs104894557GRCh37Chr 17, 14110205: 14110205
116COX10NM_001303.3(COX10): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs387906383GRCh37Chr 17, 13972924: 13972924
117RAPSNNM_005055.4(RAPSN): c.264C> A (p.Asn88Lys)single nucleotide variantPathogenicrs104894299GRCh37Chr 11, 47469631: 47469631
118RAPSNNM_005055.4(RAPSN): c.41T> C (p.Leu14Pro)single nucleotide variantPathogenicrs104894300GRCh37Chr 11, 47470476: 47470476
119RAPSNRAPSN, 5-BP INSinsertionPathogenic
120RAPSNRAPSN, 1-BP INS, 46CinsertionPathogenic
121RAPSNNM_005055.4(RAPSN): c.807C> A (p.Tyr269Ter)single nucleotide variantPathogenicrs104894301GRCh37Chr 11, 47463268: 47463268
122RAPSNNM_005055.4(RAPSN): c.848T> C (p.Leu283Pro)single nucleotide variantPathogenicrs104894293GRCh37Chr 11, 47463227: 47463227
123RAPSNRAPSN, IVS1AS, C-A, -15single nucleotide variantPathogenic
124RAPSNNM_005055.4(RAPSN): c.490C> T (p.Arg164Cys)single nucleotide variantPathogenicrs104894294GRCh37Chr 11, 47469405: 47469405
125RAPSNNM_005055.4(RAPSN): c.133G> A (p.Val45Met)single nucleotide variantPathogenicrs121909254GRCh37Chr 11, 47470384: 47470384
126RAPSNNM_005055.4(RAPSN): c.484G> A (p.Glu162Lys)single nucleotide variantPathogenicrs121909255GRCh37Chr 11, 47469411: 47469411
127MUSKNM_005592.3(MUSK): c.2368G> A (p.Val790Met)single nucleotide variantPathogenicrs199476083GRCh37Chr 9, 113563026: 113563026
128MUSKMUSK, 1-BP INS, 220CinsertionPathogenic

Expression for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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Expression patterns in normal tissues for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

Search GEO for disease gene expression data for Congenital Myasthenic Syndrome with Episodic Apnea.

Pathways for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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Pathways related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9CHRNA1, CHAT
29.3AGRN, RAPSN, CHRNA1, MUSK
3
Show member pathways
9.2DLD, COX15, COX10, SURF1
4
Show member pathways
9.2CHRNB1, CHRNA1, COX10, COX15
5
Show member pathways
9.1CHRNG, CHRND, CHRNA1, CHRNE
6
Show member pathways
8.9CHAT, CHRNE, CHRNA1, CHRND, CHRNG
78.7CHRNB1, CHRNE, CHRNA1, CHRND, CHRNG
8
Show member pathways
8.7CHRNB1, CHRNE, CHRNA1, CHRND, CHRNG
9
Show member pathways
8.7MUSK, CHRNE, CHRNA1, CHRND, CHRNG
10
Show member pathways
8.3MUSK, CHRNB1, CHRNE, CHRNA1, CHRND, CHRNG
11
Show member pathways
7.8GFPT1, CHAT, DPAGT1, COX10, COX15, DLD

Compounds for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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Compounds related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin44 28 6111.9AGRN, CHRNA1, CHAT
2pyruvate449.5DLD, CHAT, SURF1
3succinylcholine44 50 28 1112.4SCN4A, CHRNA1
4nicotine44 28 50 1112.4MUSK, CHAT, CHRNA1, AGRN
5potassium44 24 1111.0RAPSN, CHAT, MUSK, SCN4A
6sodium44 2410.0AGRN, RAPSN, CHAT, SCN4A
7acetylcholine44 50 28 24 1112.9MUSK, CHAT, CHRNA1, CHRND, RAPSN, AGRN
8galantamine44 50 1110.9CHRNG, CHRND, CHRNA1, CHRNE, CHRNB1

GO Terms for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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Cellular components related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:00560510.1AGRN, COLQ
2mitochondrial respiratory chainGO:0057469.7COX15, SURF1
3synapseGO:0452029.5CHRNB1, COLQ, AGRN
4mitochondrionGO:0057399.4TACO1, DLD, COX15, COX10, CHAT
5neuromuscular junctionGO:0315949.3MUSK, CHRNA1, DOK7, RAPSN
6acetylcholine-gated channel complexGO:0058928.9CHRNB1, CHRNE, CHRNA1, CHRND, CHRNG
7postsynaptic membraneGO:0452118.2MUSK, CHRNB1, CHRNE, CHRNA1, CHRND, CHRNG
8integral component of plasma membraneGO:0058878.0SCN4A, MUSK, CHRNB1, CHRNE, CHRNG
9cell junctionGO:0300547.6AGRN, MUSK, CHRNB1, CHRNE, CHRNA1, CHRND

Biological processes related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1heme a biosynthetic processGO:00678410.3COX10, COX15
2mitochondrial electron transport, cytochrome c to oxygenGO:00612310.3COX10, COX15
3receptor clusteringGO:04311310.2DOK7, AGRN
4cellular respirationGO:04533310.1COX15, COX10
5skeletal muscle tissue growthGO:04863010.1CHRND, CHRNA1
6musculoskeletal movementGO:05088110.0CHRND, CHRNA1
7porphyrin-containing compound metabolic processGO:00677810.0COX15, COX10
8neuromuscular processGO:05090510.0CHRND, CHRNA1
9positive regulation of neuron apoptotic processGO:0435259.9MUSK, RAPSN, AGRN
10neuromuscular synaptic transmissionGO:0072749.9CHRNB1, CHAT, CHRNA1
11respiratory chain complex IV assemblyGO:0085359.8SURF1, COX10, COX15
12synaptic transmission, cholinergicGO:0072719.8RAPSN, CHRNE, CHRNB1
13hydrogen ion transmembrane transportGO:19026009.8COX15, COX10, SURF1
14heme biosynthetic processGO:0067839.7COX10, COX15
15aerobic respirationGO:0090609.6SURF1, COX10
16neuromuscular junction developmentGO:0075289.5MUSK, CHRNA1, DOK7, AGRN
17dolichol-linked oligosaccharide biosynthetic processGO:0064889.4DPAGT1, GFPT1
18cation transportGO:0068129.4CHRND, CHRNA1, CHRNE, CHRNB1
19transportGO:0068109.3CHRNE, CHRNA1, CHRND, CHRNG
20synaptic transmissionGO:0072689.1RAPSN, CHRNG, CHRND, CHRNA1, CHRNE, CHAT
21small molecule metabolic processGO:0442818.9CHAT, COX10, COX15, DLD, SLC25A1, AGRN
22regulation of membrane potentialGO:0423918.9DLD, CHRNG, CHRND, CHRNA1, CHRNE, CHRNB1
23muscle contractionGO:0069368.8SCN4A, CHRNB1, CHRNE, CHRND, CHRNG
24signal transductionGO:0071658.8CHRNB1, CHRNE, CHRNA1, CHRND, CHRNG, AGRN

Molecular functions related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:0152679.8CHRNG, CHRNB1
2acetylcholine bindingGO:0421669.3CHRND, CHRNA1, CHRNB1
3cytochrome-c oxidase activityGO:0041299.2SURF1, COX10, COX15
4acetylcholine receptor activityGO:0154649.0CHRNB1, CHRNE, CHRNA1, CHRNG
5acetylcholine-activated cation-selective channel activityGO:0048898.8CHRNG, CHRND, CHRNA1, CHRNE, CHRNB1

Products for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Myasthenic Syndrome with Episodic Apnea

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet