MCID: CNG114
MIFTS: 21

Congenital Myasthenic Syndrome with Episodic Apnea malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Congenital Myasthenic Syndrome with Episodic Apnea

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Aliases & Descriptions for Congenital Myasthenic Syndrome with Episodic Apnea:

Name: Congenital Myasthenic Syndrome with Episodic Apnea 45
Myasthenia Familial Infantile 45 24
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 45
Myasthenic Syndrome Congenital Associated with Episodic Apnea 45
Congenital Myasthenic Syndrome Type 1a 45
Myasthenia Gravis Familial Infantile 2 45
 
Familial Infantile Myasthenia 65
Cms-Ea 45
Cms1a 45
Fimg2 45
Fim 45


Classifications:



Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

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MalaCards based summary: Congenital Myasthenic Syndrome with Episodic Apnea, also known as myasthenia familial infantile, is related to congenital myasthenic syndrome and coronary artery disease. An important gene associated with Congenital Myasthenic Syndrome with Episodic Apnea is CHAT (Choline O-Acetyltransferase).

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 Suite gene sharing:

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome10.6
2coronary artery disease10.3
3coronary stenosis10.3
4myasthenic syndrome, congenital, 1a, slow-channel10.3
5congenital heart disease10.2
6myasthenic syndrome, congenital, 6, presynaptic10.2
7coronary heart disease 210.2
8peripheral vascular disease10.2
9ischemic heart disease10.2
10arteriosclerosis10.2
11artery disease10.2
12vascular disease10.2
13myocardial infarction10.1
14coronary heart disease 610.1
15coronary heart disease 310.1
16coronary thrombosis10.1
17coats disease10.1
18coronary restenosis10.1
19hemiplegia10.1
20pyelonephritis10.1
21neurologic diseases10.1
22myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects10.0
23myasthenic syndrome, congenital, 15, without tubular aggregates10.0
24myasthenic syndrome, congenital, 7, presynaptic10.0
25myasthenia, congenital, 12, with tubular aggregates10.0
26myasthenic syndrome, congenital, 1b, fast-channel10.0
27myasthenic syndrome, congenital, 3a, slow-channel10.0
28myasthenic syndrome, congenital, 3b, fast-channel10.0
29myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency10.0
30myasthenic syndrome, congenital, 510.0
31myasthenic syndrome, congenital, 1010.0
32myasthenic syndrome, congenital, 14, with tubular aggregates10.0
33myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency10.0
34myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency10.0
35myasthenic syndrome, congenital, 13, with tubular aggregates10.0
36myasthenic syndrome, congenital, 4a, slow-channel10.0
37myasthenic syndrome, congenital, 4b, fast-channel10.0
38myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency10.0
39myasthenic syndrome, congenital, 2a, slow-channel10.0
40myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.0
41myasthenic syndrome, congenital, 1610.0
42myasthenic syndrome, congenital, 1810.0
43hypertension, essential9.9
44coronary heart disease 59.9
45coronary heart disease 99.9
46myocardial infarction 29.9
47coronary heart disease 49.9
48myoclonic epilepsy, infantile, familial9.9
49ewing sarcoma9.9
50acute myocardial infarction9.9

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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Drugs & Therapeutics for Congenital Myasthenic Syndrome with Episodic Apnea

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Interventional clinical trials:

Search ClinicalTrials, 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 Myasthenia24

Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

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

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1CHATCHAT, 2-BP INS, 523CCinsertionPathogenic
2CHATNM_020549.4(CHAT): c.631C> G (p.Pro211Ala)single nucleotide variantPathogenicrs121912815GRCh37Chr 10, 50828592: 50828592
3CHATNM_020549.4(CHAT): c.1321G> A (p.Glu441Lys)single nucleotide variantPathogenicrs121912816GRCh37Chr 10, 50856592: 50856592
4CHATNM_020549.4(CHAT): c.1516G> T (p.Val506Leu)single nucleotide variantPathogenicrs121912817GRCh37Chr 10, 50859934: 50859934
5CHATNM_020549.4(CHAT): c.1444A> G (p.Arg482Gly)single nucleotide variantPathogenicrs121912818GRCh37Chr 10, 50857615: 50857615
6CHATNM_020549.4(CHAT): c.1679G> A (p.Arg560His)single nucleotide variantPathogenicrs121912819GRCh37Chr 10, 50863185: 50863185
7CHATNM_020549.4(CHAT): c.629T> C (p.Leu210Pro)single nucleotide variantPathogenicrs121912820GRCh37Chr 10, 50828590: 50828590
8CHATNM_020549.4(CHAT): c.1493C> T (p.Ser498Leu)single nucleotide variantPathogenicrs121912821GRCh37Chr 10, 50857664: 50857664
9CHATNM_020549.4(CHAT): c.914T> C (p.Ile305Thr)single nucleotide variantPathogenicrs75466054GRCh37Chr 10, 50833680: 50833680
10CHATNM_020549.4(CHAT): c.1258C> T (p.Arg420Cys)single nucleotide variantPathogenicrs121912822GRCh37Chr 10, 50854697: 50854697
11CHATNM_020549.4(CHAT): c.1007T> C (p.Ile336Thr)single nucleotide variantPathogenicrs121912823GRCh37Chr 10, 50835727: 50835727
12CHATNM_020549.4(CHAT): c.418C> T (p.Gln140Ter)single nucleotide variantPathogenicrs794727516GRCh37Chr 10, 50827801: 50827801

Expression for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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

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Sources for Congenital Myasthenic Syndrome with Episodic Apnea

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet