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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 |
|---|---|---|---|
| 8692 | HYAL2 | hyaluronidase 2 | |
| 10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
| 10724 | OGA | O-GlcNAcase | |
| 22901 | ARSG | arylsulfatase G | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma | |
| 138050 | HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase | |
| 159371 | SLC35G1 | solute carrier family 35 member G1 | |
| 285362 | SUMF1 | sulfatase modifying factor 1 | |
| 347527 | ARSH | arylsulfatase family member H |
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: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 |
