MCID: MYS024
MIFTS: 32

Myasthenic Syndrome, Congenital, Associated with Episodic Apnea malady

Neuronal diseases, Eye diseases categories

Summaries for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

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46OMIM, 32MalaCards
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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). Affiliated tissues include eye.

Description from OMIM:46 254190, 254210, 254300, 601462, 603034 605809, 608930, 608931, 610542, 614750, 614198 more

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

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48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
congenital myasthenic syndromes 48 46
congenital myasthenic syndromes, presynaptic 60
presynaptic congenital myasthenic syndromes 48
myasthenic syndromes, congenital 60


External Ids:

MESH via Orphanet35 D020294
ICD10 via Orphanet26 G70.2
UMLS via Orphanet61 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 31)
idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome11.2
2slow-channel congenital myasthenic syndrome10.6
3congenital myasthenic syndrome with tubular aggregates 210.4
4congenital myasthenic syndrome with episodic apnea10.3
5congenital myasthenic syndrome associated with acetylcholine receptor deficiency10.3
6chrna1-related congenital myasthenic syndrome10.3
7endplate acetylcholinesterase deficiency10.3
8myasthenia gravis10.2
9chat-related congenital myasthenic syndrome10.2
10chrne-related congenital myasthenic syndrome10.2
11musk-related congenital myasthenic syndrome10.2
12rapsn-related congenital myasthenic syndrome10.2
13colq-related congenital myasthenic syndrome10.2
14scn4a-related congenital myasthenic syndrome10.2
15chrnb1-related congenital myasthenic syndrome10.2
16chrnd-related congenital myasthenic syndrome10.2
17dok7-related congenital myasthenic syndrome10.2
18agrn-related congenital myasthenic syndrome10.2
19gfpt1-related congenital myasthenic syndrome10.2
20myasthenic syndrome, fast-channel congenital10.2
21myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency10.2
22lambert-eaton myasthenic syndrome10.1
23sudden infant death syndrome10.1
24emery-dreifuss muscular dystrophy10.1
25n syndrome10.1
26congenital muscular dystrophy10.1
27epidermolysis bullosa10.1
28muscular dystrophy10.1
29myopathy10.1
30respiratory failure10.1
31myasthenia, 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

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46OMIM
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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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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

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32MalaCards
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MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, Associated with Episodic Apnea:

32
Eye

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

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Publications for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea:

62
id Symbol AA change Variation ID 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

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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet