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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 | |
| P32004 | Neural cell adhesion molecule L1 | |
| P34059 | N-acetylgalactosamine-6-sulfatase | |
| P35475 | Alpha-L-iduronidase | |
| P38567 | Hyaluronidase PH-20 | |
| P50443 | Sulfate transporter | |
| P51688 | N-sulphoglucosamine sulphohydrolase | |
| P54802 | Alpha-N-acetylglucosaminidase | |
| Q12794 | Hyaluronidase-1 | |
| Q12891 | Hyaluronidase-2 |
- 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 |
