glycogen storage disease V

Term ID

DOID:2746

Synonyms

• Glycogen storage disease 5
• glycogen storage disease type V
• Glycogen storage disease, type V
• McArdle's disease
• myophosphorylase deficiency

Definition

A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/

References

• GARD:6528
• ICD10CM:E74.04
• MESH:D006012
• MIM:232600
• NCI:C84738
• ORDO:368
• SNOMEDCT_US_2023_03_01:55912009
• UMLS_CUI:C0017924

Ontology

Human Disease   ( DOID:2746 )