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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:0003546 | Exercise intolerance |
| HP:0011463 | Childhood onset |
| HP:0001923 | Reticulocytosis |
| HP:0003573 | Increased total bilirubin |
| HP:0000952 | Jaundice |
| HP:0008305 | Exercise-induced myoglobinuria |
| HP:0003326 | Myalgia |
