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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 |
|---|---|---|
| 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:0001369 | Arthritis |
| HP:0001371 | Flexion contracture |
| HP:0001376 | Limitation of joint mobility |
| HP:0001385 | Hip dysplasia |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001510 | Growth delay |
| HP:0001537 | Umbilical hernia |
| HP:0001609 | Hoarse voice |
| HP:0001633 | Abnormal mitral valve morphology |
| HP:0001638 | Cardiomyopathy |
