Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002355 | Difficulty walking |
| HP:0004944 | Dilatation of the cerebral artery |
| HP:0001744 | Splenomegaly |
| HP:0011400 | Abnormal CNS myelination |
| HP:0002138 | Subarachnoid hemorrhage |
| HP:0003551 | Difficulty climbing stairs |
| HP:0011703 | Sinus tachycardia |
| HP:0002205 | Recurrent respiratory infections |
| HP:0001252 | Hypotonia |
| HP:0006597 | Diaphragmatic paralysis |
