MCID: MYS024
MIFTS: 21

Myasthenic Syndrome, Congenital, Associated with Episodic Apnea malady

Neuronal, Eye categories

Summaries for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

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47OMIM, 33MalaCards
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MalaCards: Myasthenic Syndrome, Congenital, Associated with Episodic Apnea, also known as congenital myasthenic syndromes, is related to congenital myasthenic syndrome and slow-channel congenital myasthenic syndrome. An important gene associated with Myasthenic Syndrome, Congenital, Associated with Episodic Apnea is CHAT (choline O-acetyltransferase).

Description from OMIM:47 254190, 254210, 254300, 601462, 603034 605809, 608930, 608931, 610542, 614750, 614198 more

Aliases & Classifications for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Sources:
49Orphanet, 47OMIM, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye


Characteristics (Orphanet epidemiological data):

49
congenital myasthenic syndromes:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

myasthenic syndrome, congenital, associated with episodic apnea 47
congenital myasthenic syndromes 49 47
congenital myasthenic syndromes, presynaptic 61
presynaptic congenital myasthenic syndromes 49
myasthenic syndromes, congenital 61


External Ids:

MESH via Orphanet36 D020294
ICD10 via Orphanet26 G70.2
UMLS via Orphanet62 C0751882

Related Diseases for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

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17GeneCards, 18GeneDecks
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Diseases related to Myasthenic Syndrome, Congenital, Associated with Episodic Apnea via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome11.2
2slow-channel congenital myasthenic syndrome10.8
3n syndrome10.8
4myasthenic syndrome, fast-channel congenital10.5
5char syndrome10.4
6congenital myasthenic syndrome with tubular aggregates 210.4
7congenital myasthenic syndrome with episodic apnea10.3
8congenital myasthenic syndrome associated with acetylcholine receptor deficiency10.3
9musk-related congenital myasthenic syndrome10.3
10chrna1-related congenital myasthenic syndrome10.3
11endplate acetylcholinesterase deficiency10.3
12micro syndrome10.2
13myasthenia gravis congenital10.2
14chat-related congenital myasthenic syndrome10.2
15chrne-related congenital myasthenic syndrome10.2
16rapsn-related congenital myasthenic syndrome10.2
17colq-related congenital myasthenic syndrome10.2
18scn4a-related congenital myasthenic syndrome10.2
19chrnb1-related congenital myasthenic syndrome10.2
20chrnd-related congenital myasthenic syndrome10.2
21dok7-related congenital myasthenic syndrome10.2
22agrn-related congenital myasthenic syndrome10.2
23gfpt1-related congenital myasthenic syndrome10.2
24myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency10.2
25lambert-eaton myasthenic syndrome10.1
26sudden infant death syndrome10.1
27emery-dreifuss muscular dystrophy10.1
28down syndrome10.1
29myopathy congenital10.1
30lambert syndrome10.1
31floppy infant syndrome10.1
32myasthenia, congenital, with tubular aggregates 110.1

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, Associated with Episodic Apnea:



Diseases related to myasthenic syndrome, congenital, associated with episodic apnea

Clinical Features for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Sources:
47OMIM
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Clinical features from OMIM:

254190, 254210, 254300, 601462, 603034, 605809, 608930, 608931, 610542, 614750 614198 more

Clinical synopsis from OMIM:

254190

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

Search CenterWatch for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Genetic Tests for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Anatomical Context for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Animal Models for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Genetic Variations for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea:

63
id Symbol AA change Variation SNP ID
1CHATp.Leu210ProVAR_011666rs28930071
2CHATp.Pro211AlaVAR_011667
3CHATp.Ile305ThrVAR_011668rs28929482
4CHATp.Arg420CysVAR_011669
5CHATp.Glu441LysVAR_011670rs28930070
6CHATp.Arg482GlyVAR_011671rs28929481
7CHATp.Ser498LeuVAR_011672
8CHATp.Val506LeuVAR_011673
9CHATp.Arg560HisVAR_011674
10CHATp.Ile336ThrVAR_038605

Expression for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

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

Pathways for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Compounds for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

GO Terms for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

Products for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

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Sources for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet