MCID: CNG114
MIFTS: 21

Congenital Myasthenic Syndrome with Episodic Apnea

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Congenital Myasthenic Syndrome with Episodic Apnea

MalaCards integrated aliases for Congenital Myasthenic Syndrome with Episodic Apnea:

Name: Congenital Myasthenic Syndrome with Episodic Apnea 53
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 53
Myasthenic Syndrome Congenital Associated with Episodic Apnea 53
Congenital Myasthenic Syndrome Type 1a 53
Familial Infantile Myasthenia 73
Myasthenia Familial Infantile 53
Cms W/episodic Apnea 53
Cms-Ea 53
Cms1a 53
Fim 53

Classifications:



External Ids:

UMLS 73 C0393929

Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

MalaCards based summary : Congenital Myasthenic Syndrome with Episodic Apnea, also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, is related to congenital myasthenic syndrome and myasthenic syndrome, congenital, 1a, slow-channel, and has symptoms including apnea, respiratory distress and ophthalmoparesis. An important gene associated with Congenital Myasthenic Syndrome with Episodic Apnea is CHAT (Choline O-Acetyltransferase), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses.

Related Diseases for Congenital Myasthenic Syndrome with Episodic Apnea

Diseases related to Congenital Myasthenic Syndrome with Episodic Apnea via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital myasthenic syndrome 28.9 CHAT SLC5A7
2 myasthenic syndrome, congenital, 1a, slow-channel 11.6
3 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 11.3
4 myasthenic syndrome, congenital, 6, presynaptic 11.2
5 presynaptic congenital myasthenic syndromes 9.2 CHAT SLC5A7

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 & Phenotypes for Congenital Myasthenic Syndrome with Episodic Apnea

UMLS symptoms related to Congenital Myasthenic Syndrome with Episodic Apnea:


apnea, respiratory distress, ophthalmoparesis

Drugs & Therapeutics for Congenital Myasthenic Syndrome with Episodic Apnea

Search Clinical Trials , NIH Clinical Center for Congenital Myasthenic Syndrome with Episodic Apnea

Genetic Tests for Congenital Myasthenic Syndrome with Episodic Apnea

Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

Publications for Congenital Myasthenic Syndrome with Episodic Apnea

Articles related to Congenital Myasthenic Syndrome with Episodic Apnea:

# Title Authors Year
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

Expression for Congenital Myasthenic Syndrome with Episodic Apnea

Search GEO for disease gene expression data for Congenital Myasthenic Syndrome with Episodic Apnea.

Pathways for Congenital Myasthenic Syndrome with Episodic Apnea

GO Terms for Congenital Myasthenic Syndrome with Episodic Apnea

Cellular components related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 8.96 CHAT SLC5A7
2 presynapse GO:0098793 8.62 CHAT SLC5A7

Biological processes related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter secretion GO:0007269 8.96 CHAT SLC5A7
2 neurotransmitter biosynthetic process GO:0042136 8.62 CHAT SLC5A7

Sources for Congenital Myasthenic Syndrome with Episodic Apnea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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