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glycogen storage disease V
Summary
- Synonym
-
- Glycogen storage disease 5
- Glycogen storage disease, type V
- McArdle's disease
- glycogen storage disease type V
- 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.
- Super Class
- autosomal recessive disease glycogen storage disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9WUB3 | Glycogen phosphorylase, muscle form |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003202 | Skeletal muscle atrophy |
| HP:0008967 | Exercise-induced muscle stiffness |
| HP:0001919 | Acute kidney injury |
| HP:0012622 | Chronic kidney disease |
| HP:0003710 | Exercise-induced muscle cramps |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0005216 | Impaired mastication |
| HP:0002875 | Exertional dyspnea |
| HP:0009073 | Progressive proximal muscle weakness |
| HP:0003546 | Exercise intolerance |
