Details of Disease | DrugMAP

General Information of Disease (ID: DISR9DGU)

Disease Name	Skeletal muscle disorder
Synonyms	skeletal muscle tissue disease or disorder; skeletal muscle tissue disease; disorder of skeletal muscle tissue; disease of skeletal muscle tissue; disease or disorder of skeletal muscle tissue
Definition	A disease involving the skeletal muscle tissue.
Disease Hierarchy	DISWD40R: Disease DISXAP3G: Muscle tissue disorder DISR9DGU: Skeletal muscle disorder
Disease Identifiers	MONDO ID MONDO_0020120 UMLS CUI C1533847 MedGen ID 735900 HPO ID HP:0003756 Orphanet ID 98472 SNOMED CT ID 75047002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DMPK	TTZQTY2	Limited	Genetic Variation	[1]
PYGM	TTZHY6R	Limited	Genetic Variation	[2]
CRYAB	TT7RUHB	moderate	Genetic Variation	[3]
DMD	TTWLFXU	Strong	Biomarker	[4]
MYH7	TTNIMDP	Strong	Genetic Variation	[5]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LPIN1	OTQ75KF2	Limited	Biomarker	[6]
TK2	OTS1V4XB	Limited	Biomarker	[7]
DES	OTI09KBW	Strong	Genetic Variation	[8]
DNAJB5	OT7WDJ5C	Strong	Genetic Variation	[9]
GYG1	OT9PU6I2	Strong	Genetic Variation	[10]
MYBPC1	OTRPN93S	Strong	Genetic Variation	[11]
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⏷ Show the Full List of 6 DOT(s)

References

1	Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice.Hum Mol Genet. 2016 Oct 1;25(19):4328-4338. doi: 10.1093/hmg/ddw266. Epub 2016 Aug 13.
2	Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model.J Physiol. 2018 Mar 15;596(6):1035-1061. doi: 10.1113/JP275292. Epub 2018 Feb 14.
3	The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.Hum Mutat. 2017 Aug;38(8):947-952. doi: 10.1002/humu.23248. Epub 2017 Jun 21.
4	A novel mutation of dystrophin in a Becker muscular dystrophy family with severe cardiac involvement: from genetics to clinicopathology.Cardiovasc Pathol. 2018 Sep-Oct;36:64-70. doi: 10.1016/j.carpath.2018.07.002. Epub 2018 Jul 26.
5	Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.Neuromuscul Disord. 2015 Apr;25(4):340-4. doi: 10.1016/j.nmd.2015.01.007. Epub 2015 Jan 26.
6	Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice.FASEB J. 2019 Jan;33(1):652-667. doi: 10.1096/fj.201800361R. Epub 2018 Jul 20.
7	Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.Neuromuscul Disord. 2010 Mar;20(3):198-203. doi: 10.1016/j.nmd.2009.11.013. Epub 2010 Jan 18.
8	A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.Mol Genet Genomic Med. 2018 Mar;6(2):288-293. doi: 10.1002/mgg3.358. Epub 2017 Dec 23.
9	Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.
10	Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency. Neuromuscul Disord. 2019 Dec;29(12):951-960. doi: 10.1016/j.nmd.2019.10.002. Epub 2019 Oct 23.
11	Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.Ann Neurol. 2019 Jul;86(1):129-142. doi: 10.1002/ana.25494. Epub 2019 May 17.