FIM
MCID: CNG114
MIFTS: 21

Congenital Myasthenic Syndrome with Episodic Apnea (FIM) 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
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
 
Myasthenia Familial Infantile 48
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 myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, is related to myasthenic syndrome, congenital, 1a, slow-channel and myasthenic syndrome, congenital, 6, presynaptic, and has symptoms including 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 are Transmission across Chemical Synapses and Circadian entrainment. Related mouse phenotype respiratory system.

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 27)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 1a, slow-channel11.5
2myasthenic syndrome, congenital, 6, presynaptic11.3
3myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects10.6
4myasthenic syndrome, congenital, 15, without tubular aggregates10.6
5myasthenic syndrome, congenital, 7, presynaptic10.6
6myasthenia, congenital, 12, with tubular aggregates10.6
7myasthenic syndrome, congenital, 1b, fast-channel10.6
8myasthenic syndrome, congenital, 3a, slow-channel10.6
9myasthenic syndrome, congenital, 3b, fast-channel10.6
10myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency10.6
11myasthenic syndrome, congenital, 510.6
12myasthenic syndrome, congenital, 1010.6
13myasthenic syndrome, congenital, 14, with tubular aggregates10.6
14myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency10.6
15myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency10.6
16myasthenic syndrome, congenital, 13, with tubular aggregates10.6
17myasthenic syndrome, congenital, 4a, slow-channel10.6
18myasthenic syndrome, congenital, 4b, fast-channel10.6
19myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency10.6
20myasthenic syndrome, congenital, 2a, slow-channel10.6
21myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.6
22myasthenic syndrome, congenital, 1610.6
23myasthenic syndrome, congenital, 1810.6
24congenital myasthenic syndrome10.3
25conus medullaris neoplasm9.8CHAT, SLC5A7
26congenital short femur9.8CHAT, SLC5A7
27honey-droplet corneal dystrophy9.7CHAT, 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

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UMLS symptoms related to Congenital Myasthenic Syndrome with Episodic Apnea:


respiratory distress, ophthalmoparesis

MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1CHAT, SLC5A7

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

idNameGO IDScoreTop Affiliating Genes
1presynapseGO:00987939.1CHAT, SLC5A7

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

idNameGO IDScoreTop Affiliating Genes
1neurotransmitter biosynthetic processGO:00421369.6CHAT, SLC5A7
2neurotransmitter secretionGO:00072699.1CHAT, SLC5A7

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