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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 |
|---|---|---|---|
| 2799 | GNS | glucosamine (N-acetyl)-6-sulfatase | |
| 2990 | GUSB | glucuronidase beta | |
| 3373 | HYAL1 | hyaluronidase 1 | |
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12891 | Hyaluronidase-2 | |
| Q16394 | Exostosin-1 | |
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase | |
| Q8NBK3 | Formylglycine-generating enzyme | |
| Q93063 | Exostosin-2 | |
| 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: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 |
