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MIRAGE
glycogen storage disease VII

Summary
Synonym
  • Glycogen storage disease 7
  • Glycogen storage disease, type VII
  • Muscle phosphofructokinase deficiency
  • glycogen storage disease type VII
  • phosphofructokinase myopathy
Definition
A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.
Super Class
autosomal recessive disease glycogen storage disease
Disease Ontology
DOID:11721
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
3091 HIF1A hypoxia inducible factor 1 subunit alpha
5213 PFKM phosphofructokinase, muscle
Displaying 1 entry
Gene ID Gene Symbol Description Source
18642 Pfkm phosphofructokinase, muscle
Displaying 1 entry
Gene ID Gene Symbol Description Source
65152 Pfkm phosphofructokinase, muscle
Displaying 1 entry
Gene ID Gene Symbol Description Source
36060 Pfk Phosphofructokinase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
179335 pfk-1.2 ATP-dependent 6-phosphofructokinase 2
180583 pfk-1.1 ATP-dependent 6-phosphofructokinase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
853155 PFK1 6-phosphofructokinase subunit alpha
855245 PFK2 6-phosphofructokinase subunit beta
The Human Phenotype Ontology
Displaying entries 1 - 10 of 27 in total
HPO ID HPO Term
HP:0001324 Muscle weakness
HP:0001903 Anemia
HP:0002149 Hyperuricemia
HP:0002486 Myotonia
HP:0003202 Skeletal muscle atrophy
HP:0009051 Increased muscle glycogen content
HP:0000007 Autosomal recessive inheritance
HP:0000790 Hematuria
HP:0000952 Jaundice
HP:0001081 Cholelithiasis
Displaying 1 entry
Gene ID Gene Symbol Description
5213 PFKM phosphofructokinase, muscle
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025