MCID: CNG114
MIFTS: 18

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 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:



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UMLS65 C0393929

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. An important gene associated with Congenital Myasthenic Syndrome with Episodic Apnea is CHAT (Choline O-Acetyltransferase). Affiliated tissues include brain.

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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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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Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

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

33
Brain

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
Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): results from a four years follow-up. (24661465)
2014
2
Molecular determinants of angiotensin II type 1 receptor functional selectivity. (18848837)
2009
3
Effectiveness of anakinra in rheumatic disease in patients naive to biological drugs or previously on TNF blocking drugs: an observational study. (16552464)
2006

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
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