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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
External Links
- Disease Ontology
- DOID:11721
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08237 | ATP-dependent 6-phosphofructokinase, muscle type |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P47857 | ATP-dependent 6-phosphofructokinase, muscle type |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008967 | Exercise-induced muscle stiffness |
| HP:0003388 | Easy fatigability |
| HP:0000790 | Hematuria |
| HP:0003738 | Exercise-induced myalgia |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001878 | Hemolytic anemia |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003710 | Exercise-induced muscle cramps |
| HP:0009020 | Exercise-induced muscle fatigue |
