Details of Disease

General Information of Disease (ID: DISJ95GS)

Disease Name	X-linked myotubular myopathy
Synonyms	myotubular myopathy, X-linked; CNMX; myopathy, centronuclear, X-linked; myotubular myopathy 1; MTM; centronuclear myopathy, X-linked; X-linked centronuclear myopathy; X-linked myotubular myopathy; myotubular myopathy, X-linked, X-linked recessive; XLCNM; XLMTM
Disease Class	8C72: Congenital myopathy
Definition	A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.
Disease Hierarchy	DIS3PN9X: X-linked disease DISXBEJO: Centronuclear myopathy DISJ95GS: X-linked myotubular myopathy
ICD Code	ICD-11 ICD-11: 8C72 ICD-10 ICD-10: G71.2
Disease Identifiers	MONDO ID MONDO_0010683 MESH ID D020914 UMLS CUI C0410203 OMIM ID 310400 MedGen ID 98374 Orphanet ID 596 SNOMED CT ID 46804001

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
AT132	DMGLW9Q	Phase 1/2	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GABRA3	TT37EDJ	Limited	Biomarker	[2]
IDS	TTNY2AP	Limited	Biomarker	[2]
MTMR1	TTHDERA	Limited	Biomarker	[3]
DNM2	TTVRA5G	Strong	Altered Expression	[4]
RYR1	TTU5CIX	Strong	Biomarker	[5]
MTM1	TTY2TCU	Definitive	X-linked	[6]
MTM1	TTY2TCU	Definitive	Biomarker	[7]
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⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP2B3	OT9DIEOP	Limited	Biomarker	[8]
BIN1	OTK8O0X8	Limited	Genetic Variation	[9]
CMTM1	OTKN7E89	Limited	Biomarker	[10]
MAMLD1	OT9EVMQY	Limited	Biomarker	[11]
MBNL1	OTOV7J85	Limited	Biomarker	[12]
MTMR12	OTH3V9L1	Limited	Biomarker	[13]
DES	OTI09KBW	Definitive	Biomarker	[14]
MTM1	OT3B517W	Definitive	X-linked	[6]
MTMR2	OTNCYGBP	Definitive	Altered Expression	[3]
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⏷ Show the Full List of 9 DOT(s)

References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.Mamm Genome. 1996 Aug;7(8):575-9. doi: 10.1007/s003359900172.
3	Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.J Neuropathol Exp Neurol. 2018 Apr 1;77(4):282-295. doi: 10.1093/jnen/nly002.
4	Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.Nat Commun. 2018 Nov 19;9(1):4848. doi: 10.1038/s41467-018-07058-4.
5	Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.Neuromuscul Disord. 2007 Apr;17(4):338-45. doi: 10.1016/j.nmd.2007.01.016. Epub 2007 Mar 21.
6	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
7	Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.Mol Genet Genomic Med. 2019 May;7(5):e621. doi: 10.1002/mgg3.621. Epub 2019 Mar 18.
8	Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1).Hum Genet. 1996 Dec;98(6):681-4. doi: 10.1007/s004390050284.
9	"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16.
10	AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy.Mol Ther. 2020 Feb 5;28(2):382-393. doi: 10.1016/j.ymthe.2019.10.018. Epub 2019 Nov 11.
11	Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.Genomics. 1997 May 1;41(3):458-62. doi: 10.1006/geno.1997.4662.
12	A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy.Neuromuscul Disord. 2012 Mar;22(3):225-30. doi: 10.1016/j.nmd.2011.10.002. Epub 2011 Nov 22.
13	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.
14	Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.Mol Ther. 2017 Apr 5;25(4):839-854. doi: 10.1016/j.ymthe.2017.02.004. Epub 2017 Feb 22.