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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mucopolysaccharidosis II
Summary
- Synonym
-
- Hunter syndrome
- Hunter's syndrome
- MPS II - Hunter syndrome
- Mucopolysaccharidosis, MPS-II
- deficiency of iduronate-2-sulphatase
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
- Super Class
- mucopolysaccharidosis
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 175 | AGA | aspartylglucosaminidase | |
| 176 | ACAN | aggrecan | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 410 | ARSA | arylsulfatase A | |
| 411 | ARSB | arylsulfatase B | |
| 821 | CANX | calnexin | |
| 847 | CAT | catalase | |
| 912 | CD1D | CD1d molecule | |
| 952 | CD38 | CD38 molecule | |
| 1800 | DPEP1 | dipeptidase 1 |
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:0000431 | Wide nasal bridge |
| HP:0000445 | Wide nose |
| HP:0000488 | Retinopathy |
| HP:0000493 | Abnormal foveal morphology |
| HP:0000505 | Visual impairment |
| HP:0000553 | Abnormal uvea morphology |
| HP:0000648 | Optic atrophy |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
| HP:0000662 | Nyctalopia |
| HP:0000707 | Abnormality of the nervous system |
