Details of Disease | DrugMAP

General Information of Disease (ID: DISMVPNU)

Disease Name	Congenital myasthenic syndrome 9
Synonyms	myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; congenital myasthenic syndrome type 9; MUSK congenital myasthenic syndrome; congenital myasthenic syndrome caused by mutation in MUSK; CMS9; congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
Definition	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.
Disease Hierarchy	DIS92VN2: Postsynaptic congenital myasthenic syndrome DISJLG2T: Congenital myasthenic syndrome DISMVPNU: Congenital myasthenic syndrome 9
Disease Identifiers	MONDO ID MONDO_0014587 UMLS CUI C4225368 OMIM ID 616325 MedGen ID 895641

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
MUSK	TT6SA0X	Strong	Autosomal recessive	[1]
MUSK	TT6SA0X	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MUSK	OTERKP1U	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.
2	Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.Am J Med Genet A. 2019 Apr;179(4):655-658. doi: 10.1002/ajmg.a.61060. Epub 2019 Feb 4.