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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 |
|---|---|---|
| O00754 | Lysosomal alpha-mannosidase | |
| O43909 | Exostosin-like 3 | |
| O60502 | Protein O-GlcNAcase | |
| P04040 | Catalase | |
| P04066 | Tissue alpha-L-fucosidase | |
| P07741 | Adenine phosphoribosyltransferase | |
| P08236 | Beta-glucuronidase | |
| P10619 | Lysosomal protective protein | |
| P15289 | Arylsulfatase A | |
| P15586 | N-acetylglucosamine-6-sulfatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000708 | Atypical behavior |
| HP:0000736 | Short attention span |
| HP:0000822 | Hypertension |
| HP:0000900 | Thickened ribs |
| HP:0001085 | Papilledema |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001268 | Mental deterioration |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0001324 | Muscle weakness |
