Details of Disease

General Information of Disease (ID: DISTXQ1P)

• Disease Name: Glycogen storage disease III
• Synonyms: glycogen storage disease IIIa; glycogen Debrancher deficiency; GSD3; glycogen storage disease due to glycogen debranching enzyme deficiency; glycogen storage disease IIIC; Agl deficiency; Gde deficiency; glycogen storage disease IIID; glycogen storage disease 3; glycogen storage disease IIIb; amylo-1,6-glucosidase deficiency; GDE deficiency; limit dextrinosis; GSDIII; AGL glycogen storage disease; Forbes disease; amylo 1,6 glucosidase deficiency; Cori-Forbes disease; glycogen storage disease type III; glycogenosis due to glycogen debranching enzyme deficiency; glycogen storage disease type 3; deficiency of debranching enzyme; GSD due to glycogen debranching enzyme deficiency; deficiency of dextrin; glycogen storage disease caused by mutation in AGL; glycogenosis type III; glycogenosis type 3; glycogen storage disease III; GSD type 3; glycogen storage disease, type III; Cori disease
• Definition: Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.
• Disease Hierarchy:
  DISYGNOB: Disorder of glycogen metabolism
  DISTXQ1P: Glycogen storage disease III
• Disease Identifiers:
  MONDO ID: MONDO_0009291
  MESH ID: D006010
  UMLS CUI: C0017922
  OMIM ID: 232400
  MedGen ID: 6641
  Orphanet ID: 366
  SNOMED CT ID: 66937008

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
G6PC	TTBQMJ8	Strong	Biomarker	[1]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MADD	OTUFYVGG	Limited	Genetic Variation	[2]
COL6A2	OTQC6PPO	Strong	Genetic Variation	[3]
GBE1	OTK2N05B	Strong	Genetic Variation	[4]
GYS2	OTCKIUYR	Strong	Altered Expression	[5]
OLIG1	OTIMFI31	Strong	Genetic Variation	[6]
PYGL	OTS1YFGR	Strong	Genetic Variation	[1]
AGL	OTWBM7WY	Definitive	Autosomal recessive	[7]

References

• [1] Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.J Inherit Metab Dis. 2007 Nov;30(6):896-902. doi: 10.1007/s10545-007-0734-4. Epub 2007 Nov 12.
• [2] 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.
• [3] Study of consanguineous populations can improve the annotation of SNP databases.Eur J Med Genet. 2011 Mar-Apr;54(2):118-20. doi: 10.1016/j.ejmg.2010.10.009. Epub 2010 Oct 28.
• [4] Acid maltase deficiency and related myopathies.Neurol Clin. 2000 Feb;18(1):151-65. doi: 10.1016/s0733-8619(05)70182-1.
• [5] Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases.Mol Ther. 2018 Jul 5;26(7):1771-1782. doi: 10.1016/j.ymthe.2018.04.023. Epub 2018 Apr 27.
• [6] Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.Clin Chem Lab Med. 2009;47(10):1233-8. doi: 10.1515/CCLM.2009.281.
• [7] 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.