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glycogen storage disease IV
Summary
- Synonym
-
- Amylopectinosis
- Branching-transferase deficiency glycogenosis
- Glycogen storage disease 4
- Glycogen storage disease, type IV
- brancher deficiency glycogenosis
- deficiency of 1,4-alpha-glucan branching enzyme
- Definition
- A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.
- 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:0001252 | Hypotonia |
| HP:0001789 | Hydrops fetalis |
| HP:0001433 | Hepatosplenomegaly |
