Details of Disease | DrugMAP

General Information of Disease (ID: DIS4PQM3)

Disease Name	Congenital myasthenic syndrome 1A
Synonyms	Cms IIa; myasthenic syndrome, congenital, type IIa, formerly; Cms IIa, formerly; myasthenic syndrome, congenital, type IIa; myasthenic syndrome, congenital, 1A, slow-channel; CMS1A; congenital myasthenic syndrome type 1A; CMS IIa; congenital myasthenic syndrome caused by mutation in CHRNA1; congenital myasthenic syndrome 1A, slow-channel; congenital myasthenic syndrome type IIa; CHRNA1 congenital myasthenic syndrome
Definition	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.
Disease Hierarchy	DIS92VN2: Postsynaptic congenital myasthenic syndrome DISJLG2T: Congenital myasthenic syndrome DIS4PQM3: Congenital myasthenic syndrome 1A
Disease Identifiers	MONDO ID MONDO_0011088 MESH ID C536091 UMLS CUI C2931107 MedGen ID 419336

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHRNA1	TT54JVQ	Strong	Autosomal dominant	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHRNA1	OT2Z2TCB	Strong	Autosomal dominant	[1]
CHRNB1	OTTJXD24	Strong	Autosomal dominant	[2]
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References

1	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.
2	New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1996 Sep;5(9):1217-27. doi: 10.1093/hmg/5.9.1217.