Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 1800 | DPEP1 | dipeptidase 1 | |
| 1836 | SLC26A2 | solute carrier family 26 member 2 | |
| 2131 | EXT1 | exostosin glycosyltransferase 1 | |
| 2132 | EXT2 | exostosin glycosyltransferase 2 | |
| 2135 | EXTL2 | exostosin like glycosyltransferase 2 | |
| 2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
| 2517 | FUCA1 | alpha-L-fucosidase 1 | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
| 2720 | GLB1 | galactosidase beta 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000154 | Wide mouth |
| HP:0000158 | Macroglossia |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000187 | Broad alveolar ridges |
| HP:0000256 | Macrocephaly |
| HP:0000280 | Coarse facial features |
| HP:0000316 | Hypertelorism |
| HP:0000365 | Hearing impairment |
