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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 5236 | PGM1 | phosphoglucomutase 1 | |
| 5836 | PYGL | glycogen phosphorylase L | |
| 5837 | PYGM | glycogen phosphorylase, muscle associated | |
| 6517 | SLC2A4 | solute carrier family 2 member 4 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003596 | Middle age onset |
| HP:0002913 | Myoglobinuria |
| HP:0009045 | Exercise-induced rhabdomyolysis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002149 | Hyperuricemia |
| HP:0011463 | Childhood onset |
| HP:0003621 | Juvenile onset |
