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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 |
|---|---|---|
| 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:0001744 | Splenomegaly |
| HP:0001761 | Pes cavus |
| HP:0001771 | Achilles tendon contracture |
| HP:0002007 | Frontal bossing |
| HP:0002014 | Diarrhea |
| HP:0002015 | Dysphagia |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0002208 | Coarse hair |
| HP:0002240 | Hepatomegaly |
| HP:0002307 | Drooling |
