Details of Disease

General Information of Disease (ID: DIS9MXRP)

• Disease Name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
• Synonyms: PGK deficiency; PHOSPHOGLYCERATE KINASE 1 deficiency; Phosphoglycerate kinase deficiency; Pgk1 deficiency; PGK1 glycogen storage disease; Phosphoglycerate Kinase Deficiency; glycogenosis due to phosphoglycerate kinase 1 deficiency; GSD due to phosphoglycerate kinase 1 deficiency; glycogen storage disease caused by mutation in PGK1; phosphoglycerate kinase 1 deficiency, X-linked recessive; glycogen storage disease due to phosphoglycerate kinase 1 deficiency
• Definition: Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
• Disease Hierarchy:
  DISYGNOB: Disorder of glycogen metabolism
  DIS30PPZ: Disorder of glycolysis
  DIS9MXRP: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0010392
  MESH ID: C567067
  UMLS CUI: C1970848
  OMIM ID: 300653
  MedGen ID: 410166
  Orphanet ID: 713

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
IMPDH1	TT3GRLK	Limited	Genetic Variation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PGK1	OT6V1ICH	Definitive	X-linked	[2]

References

• [1] Genome-wide identification of pseudogenes capable of disease-causing gene conversion.Hum Mutat. 2006 Jun;27(6):545-52. doi: 10.1002/humu.20335.
• [2] Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. Proc Natl Acad Sci U S A. 1981 Apr;78(4):2587-90. doi: 10.1073/pnas.78.4.2587.