Details of Disease | DrugMAP

General Information of Disease (ID: DISZ9NC0)

Disease Name	Congenital myasthenic syndrome 20
Synonyms	congenital myasthenic syndrome caused by mutation in SLC5A7; congenital myasthenic syndrome 20 presynaptic; congenital myasthenic syndrome type 20; myasthenic syndrome, congenital, 20, presynaptic; SLC5A7 congenital myasthenic syndrome; CMS20
Definition	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.
Disease Hierarchy	DISJLG2T: Congenital myasthenic syndrome DISZ9NC0: Congenital myasthenic syndrome 20
Disease Identifiers	MONDO ID MONDO_0014939 UMLS CUI C4310694 OMIM ID 617143 MedGen ID 934661

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
SLC5A7	TTRV7W3	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
SLC5A7	DTWI9TE	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
SLC5A7	OTLZO8QS	Strong	Autosomal recessive	[2]
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References

1	Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis.Pract Neurol. 2016 Jun;16(3):247-51. doi: 10.1136/practneurol-2015-001307. Epub 2016 Jan 19.
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.