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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06737 | Glycogen phosphorylase, liver form |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001946 | Ketosis |
| HP:0001270 | Motor delay |
| HP:0004913 | Intermittent lactic acidemia |
| HP:0000823 | Delayed puberty |
| HP:0003077 | Hyperlipidemia |
| HP:0001508 | Failure to thrive |
| HP:0000093 | Proteinuria |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0003710 | Exercise-induced muscle cramps |
| HP:0000939 | Osteoporosis |
