Details of Disease | DrugMAP

General Information of Disease (ID: DIS9CV2D)

Disease Name	Congenital myasthenic syndrome 19
Synonyms	myasthenic syndrome, congenital, 19; congenital myasthenic syndrome type 19; COL13A1 congenital myasthenic syndrome; myasthenic syndrome, congenital, type 19; congenital myasthenic syndrome caused by mutation in COL13A1; CMS19
Definition	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.
Disease Hierarchy	DIS92VN2: Postsynaptic congenital myasthenic syndrome DISJLG2T: Congenital myasthenic syndrome DIS9CV2D: Congenital myasthenic syndrome 19
Disease Identifiers	MONDO ID MONDO_0014745 UMLS CUI C4225235 OMIM ID 616720 MedGen ID 897962

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
COL13A1	OTM9IM6J	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.