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mucopolysaccharidosis III
Summary
- Synonym
-
- Mucopolysaccharidosis, MPS-III
- N-sulphoglucosamine sulphohydrolase deficiency
- Sanfilippo's syndrome
- heparan sulfate sulfatase deficiency
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
- Super Class
- mucopolysaccharidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15813 | Antigen-presenting glycoprotein CD1d | |
| P15848 | Arylsulfatase B | |
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 | |
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P20933 | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase | |
| P21589 | 5'-nucleotidase | |
| P22304 | Iduronate 2-sulfatase | |
| P27824 | Calnexin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002355 | Difficulty walking |
| HP:0002360 | Sleep abnormality |
| HP:0002656 | Epiphyseal dysplasia |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0002943 | Thoracic scoliosis |
| HP:0002987 | Elbow flexion contracture |
| HP:0003309 | Ovoid thoracolumbar vertebrae |
| HP:0003593 | Infantile onset |
| HP:0003653 | Cellular metachromasia |
| HP:0003676 | Progressive |
