Details of Disease

General Information of Disease (ID: DISZ9JP4)

Disease Name	Congenital structural myopathy
Synonyms	centronuclear myopathy
Disease Class	8C72: Congenital myopathy
Definition	A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.
Disease Hierarchy	DISLSK9G: Congenital myopathy DISZ9JP4: Congenital structural myopathy
ICD Code	ICD-11 ICD-11: 8C72.0
Disease Identifiers	MONDO ID MONDO_0002921 MESH ID D020914 UMLS CUI C0752282 MedGen ID 156050

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
DYN101	DMVGAI4	Phase 1/2	Antisense oligonucleotide	[1]
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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
DNM2	TTVRA5G	Strong	Biomarker	[2]
RYR1	TTU5CIX	Strong	Genetic Variation	[3]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTMR12	OTH3V9L1	Limited	Biomarker	[4]
AMPH	OTWPGWZX	Strong	Biomarker	[5]
BIN1	OTK8O0X8	Strong	Genetic Variation	[6]
MTMR14	OTUUEY6Q	Strong	Genetic Variation	[7]
MTMR2	OTNCYGBP	Strong	Genetic Variation	[5]
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References

1	ClinicalTrials.gov (NCT04033159) A Phase 1/2 Trial on the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of DYN101 in Patients >= 16 Years of Age With Centronuclear Myopathies Caused by Mutations in DNM2 or MTM1. U.S.National Institutes of Health.
2	Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.Mol Ther. 2018 Apr 4;26(4):1082-1092. doi: 10.1016/j.ymthe.2018.02.008. Epub 2018 Feb 14.
3	Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.Neurol Sci. 2018 Dec;39(12):2043-2051. doi: 10.1007/s10072-018-3534-8. Epub 2018 Sep 19.
4	Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.PLoS Genet. 2013 Jun;9(6):e1003583. doi: 10.1371/journal.pgen.1003583. Epub 2013 Jun 20.
5	Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.Sci Transl Med. 2019 Mar 20;11(484):eaav1866. doi: 10.1126/scitranslmed.aav1866.
6	Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet. 2007 Sep;39(9):1134-9. doi: 10.1038/ng2086. Epub 2007 Aug 5.
7	A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.Hum Mol Genet. 2006 Nov 1;15(21):3098-106. doi: 10.1093/hmg/ddl250. Epub 2006 Sep 28.