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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 |
|---|---|---|---|
| 1836 | SLC26A2 | solute carrier family 26 member 2 | |
| 2135 | EXTL2 | exostosin like glycosyltransferase 2 | |
| 2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
| 2517 | FUCA1 | alpha-L-fucosidase 1 | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2799 | GNS | glucosamine (N-acetyl)-6-sulfatase | |
| 2990 | GUSB | glucuronidase beta | |
| 3373 | HYAL1 | hyaluronidase 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:0000023 | Inguinal hernia |
| HP:0000158 | Macroglossia |
| HP:0000212 | Gingival overgrowth |
| HP:0000256 | Macrocephaly |
| HP:0000280 | Coarse facial features |
| HP:0000293 | Full cheeks |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0000362 | Otosclerosis |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
