Details of Disease | DrugMAP

General Information of Disease (ID: DISY2TGK)

Disease Name	Congenital myasthenic syndrome 17
Synonyms	myasthenic syndrome, congenital, 17; LRP4 congenital myasthenic syndrome; myasthenic syndrome, congenital, type 17; CMS17; congenital myasthenic syndrome type 17; congenital myasthenic syndrome caused by mutation in LRP4
Definition	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.
Disease Hierarchy	DIS92VN2: Postsynaptic congenital myasthenic syndrome DISJLG2T: Congenital myasthenic syndrome DISY2TGK: Congenital myasthenic syndrome 17
Disease Identifiers	MONDO ID MONDO_0014578 UMLS CUI C4225377 OMIM ID 616304 MedGen ID 895078

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
LRP4	OTO4M459	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

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.