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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
glycogen storage disease VI
Summary
- Synonym
-
- Glycogen storage disease 6
- Hers' disease
- glycogen storage disease type VI
- hepatic glycogen phosphorylase deficiency
- hepatophosphorylase deficiency glycogenosis
- Definition
- A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
- Super Class
- autosomal recessive disease glycogen storage disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 2026 | ENO2 | enolase 2 | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2548 | GAA | alpha glucosidase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 3612 | IMPA1 | inositol monophosphatase 1 | |
| 5213 | PFKM | phosphofructokinase, muscle | |
| 5836 | PYGL | glycogen phosphorylase L | |
| 5837 | PYGM | glycogen phosphorylase, muscle associated |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011997 | Postprandial hyperlactemia |
| HP:0001943 | Hypoglycemia |
| HP:0001252 | Hypotonia |
| HP:0004322 | Short stature |
| HP:0000737 | Irritability |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0001402 | Hepatocellular carcinoma |
| HP:0002155 | Hypertriglyceridemia |
| HP:0003124 | Hypercholesterolemia |
| HP:0001531 | Failure to thrive in infancy |
