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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 |
|---|---|---|---|
| 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 |
|---|---|---|
| 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:0000470 | Short neck |
| HP:0000508 | Ptosis |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000687 | Widely spaced teeth |
| HP:0000943 | Dysostosis multiplex |
| HP:0000998 | Hypertrichosis |
| HP:0001171 | Split hand |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001635 | Congestive heart failure |
| HP:0001761 | Pes cavus |
