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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 |
|---|---|---|
| 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:0012471 | Thick vermilion border |
| HP:0012478 | Temporomandibular joint ankylosis |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0100490 | Camptodactyly of finger |
| HP:0100543 | Cognitive impairment |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000238 | Hydrocephalus |
| HP:0000268 | Dolichocephaly |
| HP:0000365 | Hearing impairment |
| HP:0000403 | Recurrent otitis media |
