Details of Disease | DrugMAP

General Information of Disease (ID: DISVHGJ2)

Disease Name	Congenital myopathy 22A, classic
Disease Hierarchy	DISLSK9G: Congenital myopathy DISVHGJ2: Congenital myopathy 22A, classic
Disease Identifiers	MONDO ID MONDO_0957247 UMLS CUI C5830453 OMIM ID 620351 MedGen ID 1841089

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN4A	DT7SZIQ	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN4A	OT0MYDHC	Strong	Autosomal recessive	[1]
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References

1	Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.