glycogen storage disease VII

Term ID

DOID:11721

Synonyms

• Glycogen storage disease 7
• glycogen storage disease type VII
• Glycogen storage disease, type VII
• Muscle phosphofructokinase deficiency
• 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. https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/

References

• ICD10CM:E74.09
• MESH:D006014
• MIM:232800
• NCI:C118437
• SNOMEDCT_US_2023_03_01:89597008
• UMLS_CUI:C0017926

Ontology

Human Disease   ( DOID:11721 )