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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:0001714 | Ventricular hypertrophy |
| HP:0003722 | Neck flexor weakness |
| HP:0003691 | Scapular winging |
| HP:0001324 | Muscle weakness |
| HP:0004751 | Paroxysmal ventricular tachycardia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003803 | Type 1 muscle fiber predominance |
