Details of Disease | DrugMAP

General Information of Disease (ID: DIS1GVCK)

Disease Name	Congenital myasthenic syndrome 18
Synonyms	myasthenic syndrome, congenital, 18; myasthenic syndrome, congenital, 18, with intellectual disability and ataxia; CMS18; congenital myasthenic syndrome type 18; SNAP25 congenital myasthenic syndrome; congenital myasthenic syndrome caused by mutation in SNAP25; myasthenic syndrome, congenital, type 18
Definition	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISJLG2T: Congenital myasthenic syndrome DIS1GVCK: Congenital myasthenic syndrome 18
Disease Identifiers	MONDO ID MONDO_0014590 UMLS CUI C4225364 OMIM ID 616330 MedGen ID 906793

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SNAP25	TTYQWA0	Strong	Autosomal dominant	[1]
SNAP25	TTYQWA0	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SNAP25	OTUIQ81Q	Strong	Autosomal dominant	[1]
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References

1	Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. Neurology. 2014 Dec 9;83(24):2247-55. doi: 10.1212/WNL.0000000000001079. Epub 2014 Nov 7.
2	Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.Mol Cell Probes. 2019 Jun;45:84-88. doi: 10.1016/j.mcp.2019.03.006. Epub 2019 Mar 23.