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mucopolysaccharidosis III
Summary
- Synonym
-
- Mucopolysaccharidosis, MPS-III
- N-sulphoglucosamine sulphohydrolase deficiency
- Sanfilippo's syndrome
- heparan sulfate sulfatase deficiency
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
- Super Class
- mucopolysaccharidosis
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 | |
| 1103 | CHAT | choline O-acetyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28329 | Choline O-acetyltransferase | |
| 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 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002355 | Difficulty walking |
| HP:0002360 | Sleep abnormality |
| HP:0002656 | Epiphyseal dysplasia |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0002943 | Thoracic scoliosis |
| HP:0002987 | Elbow flexion contracture |
| HP:0003309 | Ovoid thoracolumbar vertebrae |
| HP:0003593 | Infantile onset |
| HP:0003653 | Cellular metachromasia |
| HP:0003676 | Progressive |
