Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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: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 |
