Details of Disease | DrugMAP

General Information of Disease (ID: DISAG46U)

Disease Name	Congenital myasthenic syndrome 21
Synonyms	congenital myasthenic syndrome caused by mutation in SLC18A3; myasthenic syndrome, congenital, 21, presynaptic; congenital myasthenic syndrome 21, presynaptic; congenital myasthenic syndrome type 21; CMS21; SLC18A3 congenital myasthenic syndrome
Definition	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.
Disease Hierarchy	DISJLG2T: Congenital myasthenic syndrome DISAG46U: Congenital myasthenic syndrome 21
Disease Identifiers	MONDO ID MONDO_0014983 UMLS CUI C4310654 OMIM ID 617239 MedGen ID 934621

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
SLC18A3	TTV8KWS	Strong	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC18A3	DT3T2K0	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC18A3	OTAUUY4B	Strong	Autosomal recessive	[2]
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References

1	SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. Am J Med Genet A. 2019 Jul;179(7):1362-1365. doi: 10.1002/ajmg.a.61186. Epub 2019 May 6.
2	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.