Details of Disease | DrugMAP

General Information of Disease (ID: DIS2MO09)

Disease Name	Myasthenic syndrome, congenital, 23, presynaptic
Synonyms	MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC; CMS23
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISJLG2T: Congenital myasthenic syndrome DIS2MO09: Myasthenic syndrome, congenital, 23, presynaptic
Disease Identifiers	MONDO ID MONDO_0032596 UMLS CUI C4748678 OMIM ID 618197 MedGen ID 1648392

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
SLC25A1	TTTD730	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A1	DTWU7OK	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
SLC25A1	OTIDXQ9F	Strong	Autosomal recessive	[2]
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References

1	Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. J Neuromuscul Dis. 2014;1(1):75-90. doi: 10.3233/JND-140021.
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.