FIM
MCID: CNG114
MIFTS: 38

Congenital Myasthenic Syndrome with Episodic Apnea (FIM) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

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

Description from OMIM:47 254190, 254210, 254300, 601462, 603034 605809, 608930, 608931, 610542, 614750, 615120, 614198 more

Aliases & Classifications for Congenital Myasthenic Syndrome with Episodic Apnea

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43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

congenital myasthenic syndrome with episodic apnea 43
congenital myasthenic syndrome 49 47
myasthenia familial infantile 43 22
myasthenic syndrome, presynaptic, congenital, associated with episodic apnea 43
myasthenic syndrome, congenital, associated with episodic apnea 47
myasthenic syndrome congenital associated with episodic apnea 43
congenital myasthenic syndrome type 1a 43
myasthenia gravis familial infantile 2 43
familial infantile myasthenia 62
cms-ea 43
cms1a 43
fimg2 43
fim 43


External Ids:

MESH via Orphanet36 D020294
ICD10 via Orphanet26 G70.2
UMLS via Orphanet63 C0751882

Related Diseases for Congenital Myasthenic Syndrome with Episodic Apnea

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17GeneCards, 18GeneDecks
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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 38)
idRelated DiseaseScoreTop Affiliating Genes
1slow-channel congenital myasthenic syndrome10.8
2congenital myasthenic syndrome10.7
3congenital myasthenic syndrome with tubular aggregates 210.4
4congenital myasthenic syndrome associated with acetylcholine receptor deficiency10.3
5musk-related congenital myasthenic syndrome10.3
6chrna1-related congenital myasthenic syndrome10.3
7myasthenic syndrome, congenital, with pre- and postsynaptic defects10.3
8endplate acetylcholinesterase deficiency10.3
9myasthenia, familial infantile, 110.3
10myasthenia gravis10.3
11chat-related congenital myasthenic syndrome10.3
12chrne-related congenital myasthenic syndrome10.3
13rapsn-related congenital myasthenic syndrome10.3
14colq-related congenital myasthenic syndrome10.3
15scn4a-related congenital myasthenic syndrome10.3
16chrnb1-related congenital myasthenic syndrome10.3
17chrnd-related congenital myasthenic syndrome10.3
18dok7-related congenital myasthenic syndrome10.3
19agrn-related congenital myasthenic syndrome10.3
20gfpt1-related congenital myasthenic syndrome10.3
21myasthenic syndrome, fast-channel congenital10.3
22hemiplegia10.2
23pyelonephritis10.2
24emery-dreifuss muscular dystrophy10.1
25epidermolysis bullosa10.1
26muscular dystrophy10.1
27myopathy10.1
28respiratory failure10.1
29myasthenia, congenital, with tubular aggregates 110.1
30tropical spastic paraparesis10.0
31quadriplegia10.0
32myelofibrosis10.0
33neuromuscular disease10.0
34ovarian cancer10.0
35spastic paraparesis10.0
36chronic pain10.0
37spasticity10.0
38myeloproliferative disorder10.0

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 for Congenital Myasthenic Syndrome with Episodic Apnea

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47OMIM
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Symptoms by clinical synopsis from OMIM:

254190

Clinical features from OMIM:

254190, 254210, 254300, 601462, 603034, 605809, 608930, 608931, 610542, 614750 615120, 614198 more

Drugs & Therapeutics for Congenital Myasthenic Syndrome with Episodic Apnea

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42NIH Clinical Center, 6ClinicalTrials
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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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22GTR
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Genetic tests related to Congenital Myasthenic Syndrome with Episodic Apnea:

id Genetic test Affiliating Genes
1 Familial Infantile Myasthenia22

Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

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33MalaCards
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MalaCards organs/tissues related to Congenital Myasthenic Syndrome with Episodic Apnea:

33
Eye

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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52PubMed
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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Myasthenic Syndrome with Episodic Apnea:

64
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 Congenital Myasthenic Syndrome with Episodic Apnea:

1 (show all 11)
id Gene Name 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 Congenital Myasthenic Syndrome with Episodic Apnea

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Myasthenic Syndrome with Episodic Apnea

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
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Sources for Congenital Myasthenic Syndrome with Episodic Apnea

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet