MCID: CNG114
MIFTS: 22

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 46
Myasthenia Familial Infantile 46 25
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 46
Myasthenic Syndrome Congenital Associated with Episodic Apnea 46
Myasthenia Gravis Familial Infantile 2 46
Congenital Myasthenic Syndrome Type 1a 46
 
Familial Infantile Myasthenia 66
Cms-Ea 46
Cms1a 46
Fimg2 46
Fim 46

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, 6, presynaptic, 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 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 Myasthenia25

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
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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet