Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0005165 | Shortened PR interval |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009805 | Low-output congestive heart failure |
| HP:0010471 | Oligosacchariduria |
| HP:0011947 | Respiratory tract infection |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000020 | Urinary incontinence |
