Details of Disease

General Information of Disease (ID: DISYGNOB)

• Disease Name: Disorder of glycogen metabolism
• Synonyms: rare inborn error of glycogen metabolic process; inborn glycogen storage disorder; inborn glycogen metabolic process disorder; inborn error of glycogen metabolic process; glycogenosis; glycogenoses; glycogen storage disorder; glycogen storage disease; glycogen metabolism disorder; GSD
• Definition: An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.
• Disease Hierarchy:
  DISO5FAY: Inborn error of metabolism
  DISV24X3: Carbohydrate metabolism disorder
  DIS0J9MR: Inborn disorder of energy metabolism
  DISYGNOB: Disorder of glycogen metabolism
• Disease Identifiers:
  MONDO ID: MONDO_0002412
  MESH ID: D006008
  UMLS CUI: C0017919
  MedGen ID: 6639
  Orphanet ID: 79201
  SNOMED CT ID: 29633007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GAA	TTLPC70	Limited	Genetic Variation	[1]
LAMP2	TTULDG7	Limited	Genetic Variation	[2]
PYGM	TTZHY6R	Limited	Genetic Variation	[3]
G6PC	TTBQMJ8	Strong	Genetic Variation	[4]
G6PC2	TT7EV4P	Strong	Genetic Variation	[5]
LDHA	TTW76JE	Strong	Biomarker	[6]
MGAM	TTXWASR	Strong	Genetic Variation	[1]
PHKG2	TTI5WS6	Strong	Genetic Variation	[7]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A2	DTUJPOL	Strong	Genetic Variation	[8]

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
G6PC3	DEE1B8O	Strong	Biomarker	[9]
PGM1	DEA3VM1	Strong	Biomarker	[10]
SI	DE5EO4Y	Strong	Genetic Variation	[1]

This Disease Is Related to 25 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GYG1	OT9PU6I2	Limited	Biomarker	[11]
GYG2	OTAJ7YEW	Limited	Biomarker	[12]
PFKM	OT1QY9JM	Limited	CausalMutation	[13]
PGAM2	OT9BE03I	Limited	Biomarker	[14]
AGL	OTWBM7WY	moderate	Genetic Variation	[15]
ACADM	OTA4P0FC	Strong	Biomarker	[16]
ALDOA	OTWRFTIB	Strong	Biomarker	[6]
BTD	OTJYTQ69	Strong	Altered Expression	[17]
C1QTNF5	OTLKU5I2	Strong	Genetic Variation	[18]
EHHADH	OTBAAHL5	Strong	Genetic Variation	[19]
FBP1	OTQBANEP	Strong	Biomarker	[6]
GBE1	OTK2N05B	Strong	Biomarker	[6]
GYS2	OTCKIUYR	Strong	Genetic Variation	[20]
HADHA	OTO557N2	Strong	Biomarker	[21]
MFRP	OTHY9ZA5	Strong	Biomarker	[18]
NT5C3A	OT67KZJA	Strong	Genetic Variation	[22]
PHKA1	OTLPQCRF	Strong	Genetic Variation	[23]
PHKA2	OTJE1KXL	Strong	Genetic Variation	[24]
PHKB	OTKXZZIU	Strong	Biomarker	[6]
POLDIP3	OTTB5SV7	Strong	Genetic Variation	[22]
PRKAG2	OTHTAM54	Strong	Genetic Variation	[25]
PYGL	OTS1YFGR	Strong	Biomarker	[6]
TRAPPC4	OT3THRCA	Strong	CausalMutation	[26]
NSUN2	OTZCNM33	Definitive	Genetic Variation	[27]
PHEX	OTG7N3J7	Definitive	Genetic Variation	[27]

References

• [1] Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.Chin Med J (Engl). 2018 Feb 20;131(4):448-453. doi: 10.4103/0366-6999.225056.
• [2] Glycogen storage diseases presenting as hypertrophic cardiomyopathy.N Engl J Med. 2005 Jan 27;352(4):362-72. doi: 10.1056/NEJMoa033349.
• [3] Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.Mol Genet Metab. 2011 Dec;104(4):587-91. doi: 10.1016/j.ymgme.2011.08.012. Epub 2011 Aug 16.
• [4] Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a.Gene. 2019 Jun 5;700:7-16. doi: 10.1016/j.gene.2019.03.029. Epub 2019 Mar 16.
• [5] Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene.Prenat Diagn. 2007 Jul;27(7):685-6. doi: 10.1002/pd.1764.
• [6] Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
• [7] PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):331-338. doi: 10.1515/jpem-2017-0170.
• [8] Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits. Hum Mutat. 2019 Jul;40(7):983-995. doi: 10.1002/humu.23758. Epub 2019 Apr 25.
• [9] Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.J Inherit Metab Dis. 2015 May;38(3):511-9. doi: 10.1007/s10545-014-9772-x. Epub 2014 Oct 7.
• [10] Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.Transl Res. 2018 Sep;199:62-76. doi: 10.1016/j.trsl.2018.04.008. Epub 2018 May 10.
• [11] Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.J Inherit Metab Dis. 2017 Jan;40(1):139-149. doi: 10.1007/s10545-016-9978-1. Epub 2016 Oct 7.
• [12] Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release.J Clin Endocrinol Metab. 2015 May;100(5):E767-75. doi: 10.1210/jc.2014-4337. Epub 2015 Mar 9.
• [13] Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance.J Clin Invest. 1997 Dec 1;100(11):2833-41. doi: 10.1172/JCI119831.
• [14] 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.
• [15] Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.J Hum Genet. 2016 Jul;61(7):641-5. doi: 10.1038/jhg.2016.24. Epub 2016 Mar 17.
• [16] Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.Biochem Biophys Res Commun. 2014 Dec 5;455(1-2):90-7. doi: 10.1016/j.bbrc.2014.10.096.
• [17] Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S289-94. doi: 10.1007/s10545-010-9139-x. Epub 2010 Jun 8.
• [18] Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.Ophthalmic Genet. 2017 Dec;38(6):544-548. doi: 10.1080/13816810.2017.1323340. Epub 2017 May 16.
• [19] Neonatal metabolic myopathies.Semin Perinatol. 1999 Apr;23(2):125-51. doi: 10.1016/s0146-0005(99)80046-9.
• [20] Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a.Childs Nerv Syst. 2018 Mar;34(3):581-584. doi: 10.1007/s00381-017-3666-9. Epub 2017 Nov 22.
• [21] Clinical Characteristics and Sequelae of Severe Hypertriglyceridemia in Pediatrics.Endocr Pract. 2018 Sep;24(9):789-795. doi: 10.4158/EP-2018-0106. Epub 2018 Aug 7.
• [22] New lessons in the regulation of glucose metabolism taught by the glucose 6-phosphatase system.Eur J Biochem. 2000 Mar;267(6):1533-49. doi: 10.1046/j.1432-1327.2000.01160.x.
• [23] Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.Eur J Pediatr. 2014 May;173(5):647-53. doi: 10.1007/s00431-013-2223-0. Epub 2013 Dec 11.
• [24] Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.Gene. 2017 Sep 5;627:149-156. doi: 10.1016/j.gene.2017.06.026. Epub 2017 Jun 13.
• [25] High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.Europace. 2017 Apr 1;19(4):651-659. doi: 10.1093/europace/euw067.
• [26] Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.Hum Mutat. 2000 Aug;16(2):177. doi: 10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8.
• [27] Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar. Clin Genet. 2014 Aug;86(2):134-41. doi: 10.1111/cge.12280. Epub 2013 Oct 13.