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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 |
|---|---|---|---|
| 3423 | IDS | iduronate 2-sulfatase | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4125 | MAN2B1 | mannosidase alpha class 2B member 1 | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4758 | NEU1 | neuraminidase 1 | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5476 | CTSA | cathepsin A | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 6677 | SPAM1 | sperm adhesion molecule 1 |
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:0002938 | Lumbar hyperlordosis |
| HP:0003016 | Metaphyseal widening |
| HP:0003025 | Metaphyseal irregularity |
| HP:0003274 | Hypoplastic acetabulae |
| HP:0003300 | Ovoid vertebral bodies |
| HP:0003311 | Hypoplasia of the odontoid process |
| HP:0003521 | Disproportionate short-trunk short stature |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0005180 | Tricuspid regurgitation |
