Details of Disease

General Information of Disease (ID: DISC5WDN)

• Disease Name: Glycogen storage disease due to phosphoglycerate mutase deficiency
• Synonyms: myopathy due to Phosphoglycerate mutase deficiency; GSD10; Phosphoglycerate mutase, muscle, deficiency of; glycogen storage disease X; Phosphoglycerate mutase deficiency; GSD 10; PGAMM deficiency; glycogen storage disease 10; PGAM deficiency; GSDX; glycogenosis due to phosphoglycerate mutase deficiency; myopathy due to phosphoglycerate mutase deficiency; glycogen storage disease type 10; muscle phosphoglycerate mutase deficiency; glycogen storage disease caused by mutation in PGAM2; GSD type 10; PGAM2 glycogen storage disease; GSD due to phosphoglycerate mutase deficiency
• Definition: A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.
• Disease Hierarchy:
  DISYGNOB: Disorder of glycogen metabolism
  DIS30PPZ: Disorder of glycolysis
  DISC5WDN: Glycogen storage disease due to phosphoglycerate mutase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009865
  MESH ID: C536176
  UMLS CUI: C0268149
  OMIM ID: 261670
  MedGen ID: 120613
  Orphanet ID: 97234
  SNOMED CT ID: 37666005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DBNL	OTT2OQOV	Strong	CausalMutation	[1]
PGAM2	OT9BE03I	Strong	Autosomal recessive	[2]

References

• [1] Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.Neuromuscul Disord. 2016 Oct;26(10):688-690. doi: 10.1016/j.nmd.2016.08.002. Epub 2016 Aug 11.
• [2] 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.