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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 |
|---|---|---|---|
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 411 | ARSB | arylsulfatase B | |
| 811 | CALR | calreticulin | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 |
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:0002878 | Respiratory failure |
| HP:0011947 | Respiratory tract infection |
| HP:0002240 | Hepatomegaly |
| HP:0001284 | Areflexia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0000297 | Facial hypotonia |
| HP:0003324 | Generalized muscle weakness |
| HP:0001640 | Cardiomegaly |
| HP:0002202 | Pleural effusion |
| HP:0011462 | Young adult onset |
