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mucopolysaccharidosis III
Summary
- Synonym
-
- Mucopolysaccharidosis, MPS-III
- N-sulphoglucosamine sulphohydrolase deficiency
- Sanfilippo's syndrome
- heparan sulfate sulfatase deficiency
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
- Super Class
- mucopolysaccharidosis
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5476 | CTSA | cathepsin A | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 6677 | SPAM1 | sperm adhesion molecule 1 | |
| 8692 | HYAL2 | hyaluronidase 2 | |
| 10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
| 10724 | OGA | O-GlcNAcase | |
| 22901 | ARSG | arylsulfatase G | |
| 51172 | NAGPA | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000369 | Low-set ears |
| HP:0000403 | Recurrent otitis media |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000490 | Deeply set eye |
| HP:0000505 | Visual impairment |
| HP:0000574 | Thick eyebrow |
| HP:0000662 | Nyctalopia |
| HP:0000664 | Synophrys |
| HP:0000711 | Restlessness |
