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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2548 | GAA | alpha glucosidase | |
| 2581 | GALC | galactosylceramidase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2992 | GYG1 | glycogenin 1 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 3990 | LIPC | lipase C, hepatic type | |
| 4125 | MAN2B1 | mannosidase alpha class 2B member 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q04446 | 1,4-alpha-glucan-branching enzyme | |
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 | |
| Q96AT9 | Ribulose-phosphate 3-epimerase | |
| Q9GZR5 | Very long chain fatty acid elongase 4 | |
| Q9HAW7 | UDP-glucuronosyltransferase 1A7 | |
| Q9HAW8 | UDP-glucuronosyltransferase 1A10 | |
| Q9HAW9 | UDP-glucuronosyltransferase 1A8 | |
| Q9NRA2 | Sialin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001270 | Motor delay |
| HP:0010471 | Oligosacchariduria |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0000158 | Macroglossia |
| HP:0002093 | Respiratory insufficiency |
| HP:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0001249 | Intellectual disability |
| HP:0009805 | Low-output congestive heart failure |
| HP:0001508 | Failure to thrive |
