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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:0000158 | Macroglossia |
| HP:0000183 | Difficulty in tongue movements |
| HP:0000297 | Facial hypotonia |
| HP:0000365 | Hearing impairment |
| HP:0001249 | Intellectual disability |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| HP:0001324 | Muscle weakness |
| HP:0001508 | Failure to thrive |
| HP:0001639 | Hypertrophic cardiomyopathy |
