Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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 |
|---|---|---|---|
| 3423 | IDS | iduronate 2-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4125 | MAN2B1 | mannosidase alpha class 2B member 1 | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4758 | NEU1 | neuraminidase 1 | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5476 | CTSA | cathepsin A | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 6677 | SPAM1 | sperm adhesion molecule 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase | |
| Q8NBK3 | Formylglycine-generating enzyme | |
| Q96EG1 | Arylsulfatase G | |
| Q99519 | Sialidase-1 | |
| Q9UBQ6 | Exostosin-like 2 | |
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma |
- 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 |
