Details of Disease | DrugMAP

General Information of Disease (ID: DIS46FMA)

Disease Name	Glycogen storage disease VI
Synonyms	glycogen storage disease 6; GSD6; GSD 6; phosphorylase deficiency glycogen-storage disease of liver; glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; glycogen storage disease VI; glycogen storage disease caused by mutation in PYGL; glycogenosis type 6; PYGL glycogen storage disease; liver glycogen phosphorylase deficiency; Glycogen Storage Disease Type VI; GSD type VI; glycogenosis type VI; hers' disease; glycogen storage disease type 6; hers disease; glycogen storage disease type VI; hepatic phosphorylase deficiency; hepatophosphorylase deficiency glycogenosis; glycogenosis due to liver glycogen phosphorylase deficiency; GSD due to liver glycogen phosphorylase deficiency; hepatic glycogen phosphorylase deficiency
Definition	Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.
Disease Hierarchy	DISYGNOB: Disorder of glycogen metabolism DIS46FMA: Glycogen storage disease VI
Disease Identifiers	MONDO ID MONDO_0009294 MESH ID D006013 UMLS CUI C0017925 OMIM ID 232700 MedGen ID 6643 Orphanet ID 369 SNOMED CT ID 29291001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EVPL	OTZIAFEK	Limited	Altered Expression	[1]
MMACHC	OTX0TT3W	Limited	Genetic Variation	[2]
PYGL	OTS1YFGR	Definitive	Autosomal recessive	[3]
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References

1	A Philadelphia chromosome positive acute lymphoblastic leukemia of donor origin after allogeneic bone marrow transplantation for chronic myelogenous leukemia in chronic phase.Bone Marrow Transplant. 2000 Jun;25(11):1209-11. doi: 10.1038/sj.bmt.1702418.
2	First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.Brain Dev. 2015 Mar;37(3):286-91. doi: 10.1016/j.braindev.2014.06.007. Epub 2014 Jun 25.
3	Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. Hum Mol Genet. 1998 May;7(5):865-70. doi: 10.1093/hmg/7.5.865.