Details of Disease | DrugMAP

General Information of Disease (ID: DISCPZS5)

Disease Name	Congenital myasthenic syndrome 11
Synonyms	myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; myasthenic syndrome, congenital, Ie; Cms Ie; myasthenic syndrome, congenital, Ie, formerly; Cms Ie, formerly; RAPSN congenital myasthenic syndrome; congenital myasthenic syndrome type 11; CMS1E; CMS11; congenital myasthenic syndrome 1e; CMS Ie; congenital myasthenic syndrome caused by mutation in RAPSN; congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency
Definition	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.
Disease Hierarchy	DIS92VN2: Postsynaptic congenital myasthenic syndrome DISJLG2T: Congenital myasthenic syndrome DISCPZS5: Congenital myasthenic syndrome 11
Disease Identifiers	MONDO ID MONDO_0014588 UMLS CUI C4225367 OMIM ID 616326 MedGen ID 902189

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAPSN	OTGMSWDQ	Strong	Autosomal recessive	[1]
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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.