MCID: CNG114
MIFTS: 22

Congenital Myasthenic Syndrome with Episodic Apnea

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Congenital Myasthenic Syndrome with Episodic Apnea

MalaCards integrated aliases for Congenital Myasthenic Syndrome with Episodic Apnea:

Name: Congenital Myasthenic Syndrome with Episodic Apnea 49
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 49
Myasthenic Syndrome Congenital Associated with Episodic Apnea 49
Congenital Myasthenic Syndrome Type 1a 49
Familial Infantile Myasthenia 69
Myasthenia Familial Infantile 49
Cms W/episodic Apnea 49
Cms-Ea 49
Cms1a 49
Fim 49

Classifications:



External Ids:

UMLS 69 C0393929

Summaries for Congenital Myasthenic Syndrome with Episodic Apnea

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Congenital myasthenic syndrome.

MalaCards based summary : Congenital Myasthenic Syndrome with Episodic Apnea, also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, is related to congenital myasthenic syndrome and myasthenic syndrome, congenital, 6, presynaptic, and has symptoms including ophthalmoparesis, respiratory distress and apnea. 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 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:

# Related Disease Score Top Affiliating Genes
1 congenital myasthenic syndrome 29.5 CHAT SLC5A7
2 myasthenic syndrome, congenital, 6, presynaptic 11.7
3 myasthenic syndrome, congenital, 1a, slow-channel 11.6
4 presynaptic congenital myasthenic syndromes 9.5 CHAT SLC5A7

Symptoms & Phenotypes for Congenital Myasthenic Syndrome with Episodic Apnea

UMLS symptoms related to Congenital Myasthenic Syndrome with Episodic Apnea:


ophthalmoparesis, respiratory distress, apnea

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:

# 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 16)
# 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_020549.4(CHAT): c.620G> A (p.Arg207His) single nucleotide variant Pathogenic/Likely pathogenic rs764497513 GRCh37 Chromosome 10, 50828581: 50828581
15 CHAT NM_020549.4(CHAT): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic rs369251527 GRCh37 Chromosome 10, 50863148: 50863148
16 CHAT NM_020549.4(CHAT): c.669delG (p.Gln223Hisfs) deletion Pathogenic GRCh37 Chromosome 10, 50828630: 50828630

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:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 8.96 CHAT SLC5A7
2 presynapse GO:0098793 8.62 CHAT SLC5A7

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

# 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

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