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glycogen storage disease II
Summary
- Synonym
-
- Generalized glycogenosis
- Glycogen storage disease 2
- Glycogen storage disease, type II
- Glycogenosis, type 2
- Lysosomal alpha-1,4-glucosidase deficiency
- Pompe's disease
- acid maltase deficiency
- deficiency of glucoamylase
- deficiency of maltase
- glycogen storage disease type II
- Definition
- A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
- Super Class
- autosomal recessive disease glycogen storage disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P10253 | Lysosomal alpha-glucosidase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A2AFL3 | Glucosidase, alpha, acid |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001640 | Cardiomegaly |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0002093 | Respiratory insufficiency |
| HP:0002098 | Respiratory distress |
| HP:0002240 | Hepatomegaly |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0002878 | Respiratory failure |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003324 | Generalized muscle weakness |
| HP:0003701 | Proximal muscle weakness |
