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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 |
|---|---|---|---|
| 6120 | RPE | ribulose-5-phosphate-3-epimerase | |
| 6476 | SI | sucrase-isomaltase | |
| 6785 | ELOVL4 | ELOVL fatty acid elongase 4 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 8987 | STBD1 | starch binding domain 1 | |
| 10159 | ATP6AP2 | ATPase H+ transporting accessory protein 2 | |
| 10327 | AKR1A1 | aldo-keto reductase family 1 member A1 | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 54575 | UGT1A10 | UDP glucuronosyltransferase family 1 member A10 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0001324 | Muscle weakness |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0000365 | Hearing impairment |
| HP:0003701 | Proximal muscle weakness |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0000183 | Difficulty in tongue movements |
| HP:0002098 | Respiratory distress |
| HP:0005165 | Shortened PR interval |
