MCID: CNG114
MIFTS: 20

Congenital Myasthenic Syndrome with Episodic Apnea malady

Categories: Genetic diseases, Rare diseases

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 48
Myasthenia Familial Infantile 48 27
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 48
Myasthenic Syndrome Congenital Associated with Episodic Apnea 48
Congenital Myasthenic Syndrome Type 1a 48
 
Familial Infantile Myasthenia 68
Cms W/episodic Apnea 48
Cms-Ea 48
Cms1a 48
Fim 48

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 myasthenic syndrome, congenital, 1a, slow-channel and myasthenic syndrome, congenital, 4a, slow-channel, and has symptoms including respiratory distress, respiratory distress and ophthalmoparesis. 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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Graphical network of diseases related to Congenital Myasthenic Syndrome with Episodic Apnea:



Diseases related to congenital myasthenic syndrome with episodic apnea

Symptoms & Phenotypes for Congenital Myasthenic Syndrome with Episodic Apnea

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UMLS symptoms related to Congenital Myasthenic Syndrome with Episodic Apnea:


respiratory distress, ophthalmoparesis

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 Myasthenia27

Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

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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
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. (27569547)
2016
2
Congenital myasthenic syndrome with episodic apnea. (19520274)
2009
3
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. (15701560)
2005
4
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.914T> C (p.Ile305Thr)SNVPathogenicrs75466054GRCh37Chr 10, 50833680: 50833680

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet