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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
| 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:0006580 | Portal fibrosis |
| HP:0001395 | Hepatic fibrosis |
| HP:0002360 | Sleep abnormality |
| HP:0000077 | Abnormality of the kidney |
| HP:0001510 | Growth delay |
| HP:0003270 | Abdominal distention |
| HP:0000938 | Osteopenia |
| HP:0006568 | Increased hepatic glycogen content |
| HP:0001394 | Cirrhosis |
| HP:0002240 | Hepatomegaly |
