Details of Disease | DrugMAP

General Information of Disease (ID: DISSE3BW)

Disease Name	Metabolic myopathy
Definition	A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.
Disease Hierarchy	DISOWG27: Myopathy DISSE3BW: Metabolic myopathy
Disease Identifiers	MONDO ID MONDO_0020123 UMLS CUI C0270984 MedGen ID 452364 Orphanet ID 98486 SNOMED CT ID 26111005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1S	TT94HRF	Limited	Genetic Variation	[1]
GAA	TTLPC70	Limited	Genetic Variation	[2]
PYGM	TTZHY6R	Limited	Genetic Variation	[3]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ENO3	OT3HYKYI	Limited	Biomarker	[4]
GMPPB	OTJ0CCJ8	Limited	Biomarker	[5]
MADD	OTUFYVGG	Limited	Biomarker	[6]
PGAM2	OT9BE03I	Limited	Biomarker	[7]
ACADVL	OT50L4XB	Strong	Biomarker	[8]
COQ2	OTDAKEY4	Strong	Biomarker	[9]
CPT2	OTIN6G20	Strong	Genetic Variation	[10]
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⏷ Show the Full List of 7 DOT(s)

References

1	De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.Arch Iran Med. 2017 Sep;20(9):617-620.
2	Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?.Am J Med Genet A. 2017 Oct;173(10):2628-2634. doi: 10.1002/ajmg.a.38369. Epub 2017 Aug 1.
3	A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.Hum Mutat. 2007 Feb;28(2):203-4. doi: 10.1002/humu.9474.
4	Recurrent rhabdomyolysis due to muscle -enolase deficiency: very rare or underestimated?.J Neurol. 2014 Dec;261(12):2424-8. doi: 10.1007/s00415-014-7512-7. Epub 2014 Sep 30.
5	Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x.
6	Spectrum of metabolic myopathies.Biochim Biophys Acta. 2015 Apr;1852(4):615-21. doi: 10.1016/j.bbadis.2014.06.031. Epub 2014 Jul 2.
7	Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.Neuromuscul Disord. 1999 Oct;9(6-7):399-402. doi: 10.1016/s0960-8966(99)00039-5.
8	Rhabdomyolysis: a genetic perspective.Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3.
9	Iatrogenic myopathies.Curr Opin Neurol. 2010 Oct;23(5):445-9. doi: 10.1097/WCO.0b013e32833c2054.
10	Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency.Neuropediatrics. 2020 Feb;51(1):53-56. doi: 10.1055/s-0039-1694977. Epub 2019 Sep 21.