FIM
MCID: CNG114
MIFTS: 21

Congenital Myasthenic Syndrome with Episodic Apnea (FIM) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Congenital Myasthenic Syndrome with Episodic Apnea

Aliases & Descriptions for Congenital Myasthenic Syndrome with Episodic Apnea:

Name: Congenital Myasthenic Syndrome with Episodic Apnea 50
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 50
Myasthenic Syndrome Congenital Associated with Episodic Apnea 50
Congenital Myasthenic Syndrome Type 1a 50
Familial Infantile Myasthenia 69
Myasthenia Familial Infantile 50
Cms W/episodic Apnea 50
Cms-Ea 50
Cms1a 50
Fim 50

Classifications:



Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

MalaCards based summary : Congenital Myasthenic Syndrome with Episodic Apnea, also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, is related to myasthenic syndrome, congenital, 1a, slow-channel and myasthenic syndrome, congenital, 6, presynaptic, and has symptoms including respiratory distress and ophthalmoparesis. An important gene associated with Congenital Myasthenic Syndrome with Episodic Apnea is CHAT (Choline O-Acetyltransferase), and among its related pathways/superpathways are Transmission across Chemical Synapses and Circadian entrainment. Related phenotype is respiratory system.

Related Diseases for Congenital Myasthenic Syndrome with Episodic Apnea

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 1a, slow-channel 11.5
2 myasthenic syndrome, congenital, 6, presynaptic 11.3
3 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 10.6
4 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 10.6
5 myasthenic syndrome, congenital, 13, with tubular aggregates 10.6
6 myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects 10.6
7 myasthenic syndrome, congenital, 4a, slow-channel 10.6
8 myasthenic syndrome, congenital, 15, without tubular aggregates 10.6
9 myasthenic syndrome, congenital, 4b, fast-channel 10.6
10 myasthenic syndrome, congenital, 7, presynaptic 10.6
11 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.6
12 myasthenia, congenital, 12, with tubular aggregates 10.6
13 myasthenic syndrome, congenital, 2a, slow-channel 10.6
14 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.6
15 myasthenic syndrome, congenital, 1b, fast-channel 10.6
16 myasthenic syndrome, congenital, 16 10.6
17 myasthenic syndrome, congenital, 3a, slow-channel 10.6
18 myasthenic syndrome, congenital, 18 10.6
19 myasthenic syndrome, congenital, 3b, fast-channel 10.6
20 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 10.6
21 myasthenic syndrome, congenital, 5 10.6
22 myasthenic syndrome, congenital, 10 10.6
23 myasthenic syndrome, congenital, 14, with tubular aggregates 10.6
24 congenital myasthenic syndrome 10.3
25 conus medullaris neoplasm 9.8 CHAT SLC5A7
26 congenital short femur 9.8 CHAT SLC5A7
27 honey-droplet corneal dystrophy 9.7 CHAT SLC5A7

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 & Phenotypes for Congenital Myasthenic Syndrome with Episodic Apnea

UMLS symptoms related to Congenital Myasthenic Syndrome with Episodic Apnea:


respiratory distress, ophthalmoparesis

MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome with Episodic Apnea:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.62 CHAT SLC5A7

Drugs & Therapeutics for Congenital Myasthenic Syndrome with Episodic Apnea

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

Genetic Tests for Congenital Myasthenic Syndrome with Episodic Apnea

Anatomical Context for Congenital Myasthenic Syndrome with Episodic Apnea

Publications for Congenital Myasthenic Syndrome with Episodic Apnea

Articles related to Congenital Myasthenic Syndrome with Episodic Apnea:

id Title Authors Year
1
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. ( 27569547 )
2016
2
Congenital myasthenic syndrome with episodic apnea. ( 19520274 )
2009
3
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. ( 15701560 )
2005
4
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. ( 12756141 )
2003

Variations for Congenital Myasthenic Syndrome with Episodic Apnea

ClinVar genetic disease variations for Congenital Myasthenic Syndrome with Episodic Apnea:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 CHAT CHAT, 2-BP INS, 523CC insertion Pathogenic
2 CHAT NM_020549.4(CHAT): c.631C> G (p.Pro211Ala) single nucleotide variant Pathogenic rs121912815 GRCh37 Chromosome 10, 50828592: 50828592
3 CHAT NM_020549.4(CHAT): c.1321G> A (p.Glu441Lys) single nucleotide variant Pathogenic rs121912816 GRCh37 Chromosome 10, 50856592: 50856592
4 CHAT NM_020549.4(CHAT): c.1516G> T (p.Val506Leu) single nucleotide variant Pathogenic rs121912817 GRCh37 Chromosome 10, 50859934: 50859934
5 CHAT NM_020549.4(CHAT): c.1444A> G (p.Arg482Gly) single nucleotide variant Pathogenic rs121912818 GRCh37 Chromosome 10, 50857615: 50857615
6 CHAT NM_020549.4(CHAT): c.1679G> A (p.Arg560His) single nucleotide variant Pathogenic rs121912819 GRCh37 Chromosome 10, 50863185: 50863185
7 CHAT NM_020549.4(CHAT): c.629T> C (p.Leu210Pro) single nucleotide variant Pathogenic rs121912820 GRCh37 Chromosome 10, 50828590: 50828590
8 CHAT NM_020549.4(CHAT): c.1493C> T (p.Ser498Leu) single nucleotide variant Pathogenic rs121912821 GRCh37 Chromosome 10, 50857664: 50857664
9 CHAT NM_020549.4(CHAT): c.914T> C (p.Ile305Thr) single nucleotide variant Pathogenic rs75466054 GRCh37 Chromosome 10, 50833680: 50833680
10 CHAT NM_020549.4(CHAT): c.1258C> T (p.Arg420Cys) single nucleotide variant Pathogenic rs121912822 GRCh37 Chromosome 10, 50854697: 50854697
11 CHAT NM_020549.4(CHAT): c.1007T> C (p.Ile336Thr) single nucleotide variant Pathogenic rs121912823 GRCh37 Chromosome 10, 50835727: 50835727
12 CHAT NM_020549.4(CHAT): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs794727516 GRCh37 Chromosome 10, 50827801: 50827801
13 CHAT NM_020549.4(CHAT): c.85A> T (p.Arg29Ter) single nucleotide variant Pathogenic rs772025588 GRCh37 Chromosome 10, 50822320: 50822320
14 CHAT NM_020984.3(CHAT): c.266G> A (p.Arg89His) single nucleotide variant Pathogenic rs764497513 GRCh37 Chromosome 10, 50828581: 50828581

Expression for Congenital Myasthenic Syndrome with Episodic Apnea

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

Pathways for Congenital Myasthenic Syndrome with Episodic Apnea

GO Terms for Congenital Myasthenic Syndrome with Episodic Apnea

Cellular components related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 presynapse GO:0098793 8.62 CHAT SLC5A7

Biological processes related to Congenital Myasthenic Syndrome with Episodic Apnea according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neurotransmitter secretion GO:0007269 8.96 CHAT SLC5A7
2 neurotransmitter biosynthetic process GO:0042136 8.62 CHAT SLC5A7

Sources for Congenital Myasthenic Syndrome with Episodic Apnea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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