MCID: CNG114
MIFTS: 21

Congenital Myasthenic Syndrome with Episodic Apnea malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases categories

Aliases & Classifications for Congenital Myasthenic Syndrome with Episodic Apnea

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Sources:
42NIH Rare Diseases, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Congenital Myasthenic Syndrome with Episodic Apnea:

Name: Congenital Myasthenic Syndrome with Episodic Apnea 42
Cerebrofacial Arteriovenous Metameric Syndrome Type 1 42 48
Myasthenia Familial Infantile 42 22
Cams1 42 48
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 42
Myasthenic Syndrome Congenital Associated with Episodic Apnea 42
Congenital Myasthenic Syndrome Type 1a 42
 
Myasthenia Gravis Familial Infantile 2 42
Familial Infantile Myasthenia 61
Cms-Ea 42
Cms1a 42
Fimg2 42
Fim 42


Classifications:



External Ids:

Orphanet48 141194
ICD10 via Orphanet26 Q28.2

Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

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MalaCards based summary: Congenital Myasthenic Syndrome with Episodic Apnea, also known as cerebrofacial arteriovenous metameric syndrome type 1, is related to congenital myasthenic syndrome and myasthenia, familial infantile, 1. 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 all 12)
idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome10.7
2myasthenia, familial infantile, 110.5
3myasthenic syndrome, congenital, associated with episodic apnea10.2
4hemiplegia10.2
5pyelonephritis10.2
6myelofibrosis10.0
7tropical spastic paraparesis10.0
8quadriplegia10.0
9neuromuscular disease10.0
10spastic paraparesis10.0
11chronic pain10.0
12spasticity10.0

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

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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet