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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9D6Y9 | 1,4-alpha-glucan-branching enzyme |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001394 | Cirrhosis |
| HP:0001638 | Cardiomyopathy |
| HP:0001265 | Hyporeflexia |
| HP:0002040 | Esophageal varix |
| HP:0001508 | Failure to thrive |
| HP:0000969 | Edema |
| HP:0001762 | Talipes equinovarus |
| HP:0001409 | Portal hypertension |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0001324 | Muscle weakness |
