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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 |
|---|---|---|
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 | |
| P32004 | Neural cell adhesion molecule L1 | |
| P34059 | N-acetylgalactosamine-6-sulfatase | |
| P35475 | Alpha-L-iduronidase | |
| P38567 | Hyaluronidase PH-20 | |
| P50443 | Sulfate transporter | |
| P51688 | N-sulphoglucosamine sulphohydrolase | |
| P54802 | Alpha-N-acetylglucosaminidase | |
| Q12794 | Hyaluronidase-1 | |
| Q12891 | Hyaluronidase-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001641 | Abnormal pulmonary valve morphology |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0001679 | Abnormal aortic morphology |
| HP:0001702 | Abnormal tricuspid valve morphology |
| HP:0001744 | Splenomegaly |
| HP:0002028 | Chronic diarrhea |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0002176 | Spinal cord compression |
| HP:0002360 | Sleep abnormality |
