Details of Disease

General Information of Disease (ID: DISJNC0O)

• Disease Name: Glycogen storage disease V
• Synonyms: muscle glycogen phosphorylase deficiency; glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle type glycogen storage disease; Pygm deficiency; GSD5; glycogen storage disease 5; GSD 5; glycogenosis type 5; glycogenosis type V; McArdle disease; McArdle's disease; GSD type 5; glycogen storage disease type 5; GSD due to muscle glycogen phosphorylase deficiency; glycogenosis due to muscle glycogen phosphorylase deficiency; glycogen storage disease caused by mutation in PYGM; Mcardle disease; glycogen storage disease V; myophosphorylase deficiency; GSD type V; glycogen storage disease, type V; PYGM glycogen storage disease; glycogen storage disease type V
• Definition: Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.
• Disease Hierarchy:
  DISYGNOB: Disorder of glycogen metabolism
  DISJNC0O: Glycogen storage disease V
• Disease Identifiers:
  MONDO ID: MONDO_0009293
  MESH ID: D006012
  UMLS CUI: C0017924
  OMIM ID: 232600
  MedGen ID: 5341
  Orphanet ID: 368
  SNOMED CT ID: 55912009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PYGM	TT31JXP	Strong	Autosomal recessive	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PGM1	DEA3VM1	Strong	Altered Expression	[2]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MADD	OTUFYVGG	Limited	Genetic Variation	[3]
ACE	OTDF1964	moderate	Genetic Variation	[4]
ACTN3	OT9DZ7JQ	moderate	Genetic Variation	[5]
AMPD1	OTU17BCI	moderate	Biomarker	[6]
CPT2	OTIN6G20	moderate	Biomarker	[7]
AMPD2	OTBS30JU	Strong	Genetic Variation	[8]
ATP2A1	OT959A3A	Strong	Biomarker	[9]
PPL	OTTM4WDO	Strong	Genetic Variation	[10]
PYGL	OTS1YFGR	Strong	Genetic Variation	[11]
PYGM	OTWLVWTV	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.Mol Genet Metab. 2017 Nov;122(3):117-121. doi: 10.1016/j.ymgme.2017.08.007. Epub 2017 Aug 25.
• [3] 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.
• [4] The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease.Br J Sports Med. 2008 Feb;42(2):134-40. doi: 10.1136/bjsm.2007.038992. Epub 2007 Jul 6.
• [5] Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease.Hum Mutat. 2018 Dec;39(12):1774-1787. doi: 10.1002/humu.23663. Epub 2018 Nov 8.
• [6] Exercise testing-based algorithms to diagnose McArdle disease and MAD defects.Acta Neurol Scand. 2018 Oct;138(4):301-307. doi: 10.1111/ane.12957. Epub 2018 May 10.
• [7] Metabolic myopathies: the challenge of new treatments.Curr Opin Pharmacol. 2010 Jun;10(3):338-45. doi: 10.1016/j.coph.2010.02.006. Epub 2010 Mar 29.
• [8] AMPD1 genotypes and exercise capacity in McArdle patients.Int J Sports Med. 2008 Apr;29(4):331-5. doi: 10.1055/s-2007-965358. Epub 2007 Aug 9.
• [9] A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.PLoS One. 2012;7(2):e31718. doi: 10.1371/journal.pone.0031718. Epub 2012 Feb 9.
• [10] Molecular analysis of Spanish patients with AMP deaminase deficiency.Muscle Nerve. 2000 Aug;23(8):1175-8. doi: 10.1002/1097-4598(200008)23:8<1175::aid-mus3>3.0.co;2-m.
• [11] High frequency of missense mutations in glycogen storage disease type VI.J Inherit Metab Dis. 2007 Oct;30(5):722-34. doi: 10.1007/s10545-007-0499-9. Epub 2007 Aug 21.