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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 |
|---|---|---|
| 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:0002092 | Pulmonary arterial hypertension |
| HP:0002240 | Hepatomegaly |
| HP:0002318 | Cervical myelopathy |
| HP:0002656 | Epiphyseal dysplasia |
| HP:0002751 | Kyphoscoliosis |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0002829 | Arthralgia |
| HP:0002857 | Genu valgum |
| HP:0002866 | Hypoplastic iliac wing |
| HP:0002869 | Flared iliac wing |
