Mucopolysaccharidosis
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia).
Associated Genes
| Gene Name | Chromosome number | BMRB Entries | PDB Entries |
|---|---|---|---|
| IDUA | 4 | PDB Entries | |
| GLB1 | 3 | PDB Entries | |
| HYAL1 | 3 | PDB Entries | |
| ARSB | 5 | PDB Entries | |
| GUSB | 7 | PDB Entries | |
| GNS | 12 | ||
| GALNS | 16 | PDB Entries | |
| NAGLU | 17 | ||
| SGSH | 17 | PDB Entries |