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glycogen storage disease III
Summary
- Synonym
-
- Glycogen storage disease 3
- Glycogen storage disease, type III
- amylo 1,6 glucosidase deficiency
- deficiency of debranching enzyme
- deficiency of dextrin
- Definition
- A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
- Super Class
- autosomal recessive disease glycogen storage disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2548 | GAA | alpha glucosidase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 2998 | GYS2 | glycogen synthase 2 | |
| 5836 | PYGL | glycogen phosphorylase L |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06737 | Glycogen phosphorylase, liver form | |
| P10253 | Lysosomal alpha-glucosidase | |
| P35573 | Glycogen debranching enzyme | |
| P35575 | Glucose-6-phosphatase catalytic subunit 1 | |
| P54840 | Glycogen [starch] synthase, liver | |
| Q04446 | 1,4-alpha-glucan-branching enzyme |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011800 | Midface retrusion |
| HP:0002240 | Hepatomegaly |
| HP:0000219 | Thin upper lip vermilion |
| HP:0003077 | Hyperlipidemia |
| HP:0000490 | Deeply set eye |
| HP:0001714 | Ventricular hypertrophy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000455 | Broad nasal tip |
| HP:0003693 | Distal amyotrophy |
