MCID: CNG114
MIFTS: 25

Congenital Myasthenic Syndrome with Episodic Apnea malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

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MalaCards based summary: Congenital Myasthenic Syndrome with Episodic Apnea, also known as myasthenia familial infantile, is related to congenital myasthenic syndrome and myasthenia, familial infantile, 1. An important gene associated with Congenital Myasthenic Syndrome with Episodic Apnea is CHAT (choline O-acetyltransferase).

Aliases & Classifications for Congenital Myasthenic Syndrome with Episodic Apnea

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Sources:
43NIH Rare Diseases, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet
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Congenital Myasthenic Syndrome with Episodic Apnea, Aliases & Descriptions:

Name: Congenital Myasthenic Syndrome with Episodic Apnea 43 62
Myasthenia Familial Infantile 43 24 62
Cerebrofacial Arteriovenous Metameric Syndrome Type 1 43 49
Congenital Myasthenic Syndrome Type 1a 43 62
Cms-Ea 43 62
Cams1 43 49
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 43
Myasthenic Syndrome Congenital Associated with Episodic Apnea 43
 
Congenital Myasthenic Syndromes, Presynaptic 62
Myasthenia Gravis Familial Infantile 2 43
Congenital Myasthenic Syndrome 62
Familial Infantile Myasthenia 62
Cms1a 43
Fimg2 43
Fim 43


Classifications:



External Ids:

Orphanet49 141194
ICD10 via Orphanet28 Q28.2

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/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome10.7
2myasthenia, familial infantile, 110.4
3myasthenic syndrome, congenital, associated with episodic apnea10.2
4hemiplegia10.2
5pyelonephritis10.2
6myelofibrosis10.0
7tropical spastic paraparesis10.0
8quadriplegia10.0
9neuromuscular disease10.0
10spastic paraparesis10.0
11chronic pain10.0
12spasticity10.0

Graphical network of diseases related to Congenital Myasthenic Syndrome with Episodic Apnea:



Diseases related to congenital myasthenic syndrome with episodic apnea

Symptoms for Congenital Myasthenic Syndrome with Episodic Apnea

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Drugs & Therapeutics for Congenital Myasthenic Syndrome with Episodic Apnea

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Drug clinical trials:

Search ClinicalTrials for Congenital Myasthenic Syndrome with Episodic Apnea

Search NIH Clinical Center for Congenital Myasthenic Syndrome with Episodic Apnea

Genetic Tests for Congenital Myasthenic Syndrome with Episodic Apnea

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Genetic tests related to Congenital Myasthenic Syndrome with Episodic Apnea:

id Genetic test Affiliating Genes
1 Familial Infantile Myasthenia24

Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

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

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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
Congenital myasthenic syndrome with episodic apnea. (19520274)
2009
2
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. (15701560)
2005
3
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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Clinvar genetic disease variations for Congenital Myasthenic Syndrome with Episodic Apnea:

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

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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Compounds 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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Products for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Myasthenic Syndrome with Episodic Apnea

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet