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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 |
|---|---|---|---|
| 54576 | UGT1A8 | UDP glucuronosyltransferase family 1 member A8 | |
| 54577 | UGT1A7 | UDP glucuronosyltransferase family 1 member A7 | |
| 54578 | UGT1A6 | UDP glucuronosyltransferase family 1 member A6 | |
| 54579 | UGT1A5 | UDP glucuronosyltransferase family 1 member A5 | |
| 54600 | UGT1A9 | UDP glucuronosyltransferase family 1 member A9 | |
| 54657 | UGT1A4 | UDP glucuronosyltransferase family 1 member A4 | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 54659 | UGT1A3 | UDP glucuronosyltransferase family 1 member A3 | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22310 | UDP-glucuronosyltransferase 1A4 | |
| P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
| P27797 | Calreticulin | |
| P35475 | Alpha-L-iduronidase | |
| P35503 | UDP-glucuronosyltransferase 1A3 | |
| P35504 | UDP-glucuronosyltransferase 1A5 | |
| P35573 | Glycogen debranching enzyme | |
| P35575 | Glucose-6-phosphatase catalytic subunit 1 | |
| P46976 | Glycogenin-1 | |
| P54803 | Galactocerebrosidase |
- 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 |
