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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 |
|---|---|---|---|
| 175 | AGA | aspartylglucosaminidase | |
| 176 | ACAN | aggrecan | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 410 | ARSA | arylsulfatase A | |
| 411 | ARSB | arylsulfatase B | |
| 821 | CANX | calnexin | |
| 847 | CAT | catalase | |
| 912 | CD1D | CD1d molecule | |
| 952 | CD38 | CD38 molecule | |
| 1800 | DPEP1 | dipeptidase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15813 | Antigen-presenting glycoprotein CD1d | |
| P15848 | Arylsulfatase B | |
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 | |
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P20933 | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase | |
| P21589 | 5'-nucleotidase | |
| P22304 | Iduronate 2-sulfatase | |
| P27824 | Calnexin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001371 | Flexion contracture |
| HP:0001385 | Hip dysplasia |
| HP:0001387 | Joint stiffness |
| HP:0001537 | Umbilical hernia |
| HP:0001638 | Cardiomyopathy |
| HP:0001653 | Mitral regurgitation |
| HP:0001718 | Mitral stenosis |
| HP:0001744 | Splenomegaly |
| HP:0002090 | Pneumonia |
| HP:0002091 | Restrictive ventilatory defect |
