Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
mucopolysaccharidosis type VII
Summary
- Synonym
-
- MPS VII - Sly syndrome
- 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 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12265 | Beta-glucuronidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0007957 | Corneal opacity |
| HP:0008155 | Mucopolysacchariduria |
| HP:0001789 | Hydrops fetalis |
| HP:0002103 | Abnormal pleura morphology |
| HP:0003272 | Abnormal hip bone morphology |
| HP:0004607 | Anterior beaking of lower thoracic vertebrae |
| HP:0000280 | Coarse facial features |
| HP:0002650 | Scoliosis |
| HP:0001744 | Splenomegaly |
