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glycogen storage disease III
Summary
- Synonym
-
- Glycogen storage disease 3
- Glycogen storage disease, type III
- amylo 1,6 glucosidase deficiency
- deficiency of debranching enzyme
- deficiency of dextrin
- Definition
- A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
- Super Class
- autosomal recessive disease glycogen storage disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35573 | Glycogen debranching enzyme |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001638 | Cardiomyopathy |
| HP:0005280 | Depressed nasal bridge |
| HP:0001324 | Muscle weakness |
| HP:0000233 | Thin vermilion border |
