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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
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 2026 | ENO2 | enolase 2 | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2548 | GAA | alpha glucosidase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 3612 | IMPA1 | inositol monophosphatase 1 | |
| 5213 | PFKM | phosphofructokinase, muscle | |
| 5836 | PYGL | glycogen phosphorylase L | |
| 5837 | PYGM | glycogen phosphorylase, muscle associated |
Related Glycoprotein
- 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 |
