Details of Disease | DrugMAP

General Information of Disease (ID: DIS15H2Z)

Disease Name	Congenital myasthenic syndrome 6
Synonyms	FIM, formerly; CMS Ia2, formerly; CMS1A; congenital myasthenic syndrome with episodic apnea; CMS w/episodic apnea; congenital myasthenic syndrome type Ia; myasthenic syndrome, congenital, associated with episodic apnea; myasthenia familial infantile; myasthenia, familial infantile; congenital myasthenic syndrome type 1a; Cms Ia2; Cms Ia2, formerly; congenital myasthenic syndrome type Ia2, formerly; CMS1A2, formerly; myasthenia, familial infantile, formerly; myasthenia gravis, familial infantile, 2, formerly; CMS-ea; FIMG2, formerly; myasthenic syndrome congenital associated with episodic apnea; myasthenic syndrome, congenital, 6, presynaptic; myasthenia gravis familial infantile 2 (formerly); myasthenic syndrome, presynaptic, congenital, associated with episodic apnea; FIMG2 (formerly); myasthenia gravis, familial infantile, 2; congenital presynaptic myasthenic syndrome associated with episodic apnea; congenital myasthenic syndrome 6; congenital myasthenic syndrome type 6; CHAT congenital myasthenic syndrome; FIMG2; familial infantile myasthenia; familial infantile myasthenia gravis 2; CMS Ia2; congenital myasthenic syndrome type Ia2; FIM; congenital myasthenic syndrome 6, presynaptic; CMSEA; congenital myasthenic syndrome caused by mutation in CHAT; CMS1A2; presynaptic congenital myasthenic syndrome 6; CMS6
Definition	Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISJLG2T: Congenital myasthenic syndrome DIS15H2Z: Congenital myasthenic syndrome 6
Disease Identifiers	MONDO ID MONDO_0009689 MESH ID C535759 UMLS CUI C0393929 OMIM ID 254210 MedGen ID 140751 SNOMED CT ID 230670003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC5A7	TTRV7W3	moderate	Biomarker	[1]
CHAT	TTKYFSB	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHAT	DE5NGOW	Strong	Autosomal recessive	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHAT	OTEJWQ45	Strong	Autosomal recessive	[3]
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References

1	Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25.
2	A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.Am J Med Genet A. 2017 Jul;173(7):1979-1982. doi: 10.1002/ajmg.a.38259. Epub 2017 May 12.
3	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.