MCID: MYS024
MIFTS: 14

Myasthenic Syndrome, Congenital, Associated with Episodic Apnea malady

Genetic diseases (common) category

Summaries for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

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OMIM:45 Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction and can be classified by the site... (254210) more...

MalaCards based summary: Myasthenic Syndrome, Congenital, Associated with Episodic Apnea is related to congenital myasthenic syndrome with episodic apnea, and has symptoms including autosomal recessive inheritance, strabismus and ptosis. An important gene associated with Myasthenic Syndrome, Congenital, Associated with Episodic Apnea is CHAT (choline O-acetyltransferase).

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

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Myasthenic Syndrome, Congenital, Associated with Episodic Apnea, Aliases & Descriptions:

Name: Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 45 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 254210

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

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

idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome with episodic apnea10.5

Symptoms for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

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Symptoms by clinical synopsis from OMIM:

254210

Clinical features from OMIM:

254210

HPO human phenotypes related to Myasthenic Syndrome, Congenital, Associated with Episodic Apnea:

(show all 20)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 strabismus HP:0000486
3 ptosis HP:0000508
4 ophthalmoparesis HP:0000597
5 bulbar palsy HP:0001283
6 weak cry HP:0001612
7 dysphagia HP:0002015
8 poor suck HP:0002033
9 respiratory distress HP:0002098
10 abnormality of the immune system HP:0002715
11 respiratory insufficiency due to muscle weakness HP:0002747
12 arthrogryposis multiplex congenita HP:0002804
13 apneic episodes precipitated by illness, fatigue, stress HP:0002872
14 sudden episodic apnea HP:0002882
15 generalized hypotonia due to defect at the neuromuscular junction HP:0003397
16 decreased miniature endplate potentials HP:0003402
17 emg HP:0003403
18 fatigable weakness HP:0003473
19 type 2 muscle fiber atrophy HP:0003554
20 congenital onset HP:0003577

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

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Drug clinical trials:

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

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

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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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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Variations for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea

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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Myasthenic Syndrome, Congenital, Associated with Episodic Apnea:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1CHATCHAT, 2-BP INS, 523CCinsertionPathogenic
2CHATNM_020549.4(CHAT): c.631C> G (p.Pro211Ala)single nucleotide variantPathogenicrs121912815GRCh37Chr 10, 50828592: 50828592
3CHATNM_020549.4(CHAT): c.1321G> A (p.Glu441Lys)single nucleotide variantPathogenicrs121912816GRCh37Chr 10, 50856592: 50856592
4CHATNM_020549.4(CHAT): c.1516G> T (p.Val506Leu)single nucleotide variantPathogenicrs121912817GRCh37Chr 10, 50859934: 50859934
5CHATNM_020549.4(CHAT): c.1444A> G (p.Arg482Gly)single nucleotide variantPathogenicrs121912818GRCh37Chr 10, 50857615: 50857615
6CHATNM_020549.4(CHAT): c.1679G> A (p.Arg560His)single nucleotide variantPathogenicrs121912819GRCh37Chr 10, 50863185: 50863185
7CHATNM_020549.4(CHAT): c.629T> C (p.Leu210Pro)single nucleotide variantPathogenicrs121912820GRCh37Chr 10, 50828590: 50828590
8CHATNM_020549.4(CHAT): c.1493C> T (p.Ser498Leu)single nucleotide variantPathogenicrs121912821GRCh37Chr 10, 50857664: 50857664
9CHATNM_020549.4(CHAT): c.914T> C (p.Ile305Thr)single nucleotide variantPathogenicrs75466054GRCh37Chr 10, 50833680: 50833680
10CHATNM_020549.4(CHAT): c.1258C> T (p.Arg420Cys)single nucleotide variantPathogenicrs121912822GRCh37Chr 10, 50854697: 50854697
11CHATNM_020549.4(CHAT): c.1007T> C (p.Ile336Thr)single nucleotide variantPathogenicrs121912823GRCh37Chr 10, 50835727: 50835727

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

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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
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  • Antibodies
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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet