Details of Disease | DrugMAP

General Information of Disease (ID: DISEFB80)

Disease Name	Congenital myasthenic syndrome 7
Synonyms	myasthenic syndrome, congenital, 7, presynaptic; myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy; CMS7; congenital myasthenic syndrome 7 presynaptic; myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant; congenital myasthenic syndrome caused by mutation in SYT2; SYT2 congenital myasthenic syndrome; congenital myasthenic syndrome type 7
Definition	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.
Disease Hierarchy	DISJLG2T: Congenital myasthenic syndrome DISEFB80: Congenital myasthenic syndrome 7
Disease Identifiers	MONDO ID MONDO_0014468 UMLS CUI C4015038 OMIM ID 616040 MedGen ID 863475

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
SYT2	OTJYGTY4	Strong	Autosomal dominant	[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.