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glycogen storage disease XV
Summary
- Synonym
-
- Glycogen storage disease 15
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- glycogen storage disease type XV
- Definition
- A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1.
- Super Class
- autosomal recessive disease glycogen storage disease
External Links
- Disease Ontology
- DOID:0050579
- ORDO
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P46976 | Glycogenin-1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9R062 | Glycogenin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002875 | Exertional dyspnea |
| HP:0009023 | Abdominal wall muscle weakness |
| HP:0001663 | Ventricular fibrillation |
| HP:0011712 | Right bundle branch block |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0000821 | Hypothyroidism |
| HP:0010872 | T-wave inversion |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0012270 | Decreased muscle glycogen content |
| HP:0001962 | Palpitations |
