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mucopolysaccharidosis VI
Summary
- Synonym
-
- MPS VI - Maroteaux-Lamy syndrome
- Maroteaux - Lamy syndrome
- Maroteaux-Lamy syndrome
- arylsulfatase B deficiency
- deficiency of N-acetylgalactosamine-4-sulfatase
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
- Super Class
- mucopolysaccharidosis
External Links
- Disease Ontology
- DOID:12800
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 7124 | TNF | tumor necrosis factor | |
| 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 |
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:0000684 | Delayed eruption of teeth |
| HP:0000768 | Pectus carinatum |
| HP:0000884 | Prominent sternum |
| HP:0000885 | Broad ribs |
| HP:0000943 | Dysostosis multiplex |
| HP:0001007 | Hirsutism |
| HP:0001072 | Thickened skin |
| HP:0001171 | Split hand |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
