Details of Disease

General Information of Disease (ID: DISWZUF2)

• Disease Name: Glycogen storage disease VII
• Synonyms: muscle phosphofructokinase deficiency; GSD 7; glycogen storage disease 7; glycogen storage disease due to muscle phosphofructokinase deficiency; GSD7; Pfkm deficiency; glycogen storage disease caused by mutation in PFKM; glycogen storage disease type 7; GSD due to muscle phosphofructokinase deficiency; glycogenosis type VII; glycogen storage disease type VII; phosphofructokinase deficiency; GSD type 7; Tarui disease; glycogenosis due to muscle phosphofructokinase deficiency; PFKM glycogen storage disease; GSDVII; Glycogen Storage Disease Type 7; glycogen storage disease VII; glycogen storage disease, type VII; GSD type VII; glycogenosis type 7; phosphofructokinase myopathy
• Definition: Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
• Disease Hierarchy:
  DIS487SI: Hereditary haemolytic anemia
  DIS0Y78V: Anemia due to erythrocyte enzyme disorder
  DISYGNOB: Disorder of glycogen metabolism
  DIS30PPZ: Disorder of glycolysis
  DISWZUF2: Glycogen storage disease VII
• Disease Identifiers:
  MONDO ID: MONDO_0009295
  MESH ID: D006014
  UMLS CUI: C0017926
  OMIM ID: 232800
  MedGen ID: 5342
  Orphanet ID: 371
  SNOMED CT ID: 89597008

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
PYGM	TTZHY6R	Strong	Genetic Variation	[1]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMPD3	OT5SP1KJ	Strong	Biomarker	[2]
BRAP	OTB7BAFQ	Strong	Altered Expression	[2]
IMPA1	OTBUVW1Z	Strong	Altered Expression	[2]
PFKM	OT1QY9JM	Definitive	Autosomal recessive	[3]

References

• [1] Glycogen storage diseases in animals and their potential value as models of human disease.J Inherit Metab Dis. 1983;6(1):3-16. doi: 10.1007/BF02391186.
• [2] The contribution of Ca+ calmodulin activation of human erythrocyte AMP deaminase (isoform E) to the erythrocyte metabolic dysregulation of familial phosphofructokinase deficiency.Haematologica. 2006 May;91(5):652-5.
• [3] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.