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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:0002486 | Myotonia |
| HP:0001903 | Anemia |
| HP:0009051 | Increased muscle glycogen content |
| HP:0001324 | Muscle weakness |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0002149 | Hyperuricemia |
| HP:0003621 | Juvenile onset |
| HP:0001997 | Gout |
| HP:0012544 | Elevated circulating aldolase concentration |
| HP:0001081 | Cholelithiasis |
