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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:0001252 | Hypotonia |
| HP:0001265 | Hyporeflexia |
| HP:0001716 | Wolff-Parkinson-White syndrome |
| HP:0001744 | Splenomegaly |
| HP:0001945 | Fever |
| HP:0002094 | Dyspnea |
| HP:0002138 | Subarachnoid hemorrhage |
| HP:0002202 | Pleural effusion |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002355 | Difficulty walking |
