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Sly syndrome
Summary
- Synonym
-
- MPS VII - Sly syndrome
- beta-glucuronidase deficiency
- deficiency of beta-glucuronidase
- mucopolysaccharidosis VII
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
- Super Class
- mucopolysaccharidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08236 | Beta-glucuronidase | |
| P35475 | Alpha-L-iduronidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005616 | Accelerated skeletal maturation |
| HP:0005619 | Thoracolumbar kyphosis |
| HP:0006119 | Proximal tapering of metacarpals |
| HP:0006536 | Airway obstruction |
| HP:0008301 | Dermatan sulfate excretion in urine |
| HP:0008807 | Acetabular dysplasia |
| HP:0008818 | Large iliac wing |
| HP:0008897 | Postnatal growth retardation |
| HP:0011461 | Fetal onset |
| HP:0012307 | Spatulate ribs |
