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mucopolysaccharidosis type IIIC
Summary
- Synonym
-
- Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
- HGSNAT deficiency
- Heparan-alpha-glucosaminide N-acetyltransferase deficiency
- MPS3C
- MPSIIIC
- Mucopolysaccharidosis type 3C
- Sanfilippo syndrome type C
- mucopolysaccharidosis type IIIC (Sanfilippo C)
- Definition
- A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.
- Super Class
- autosomal recessive disease mucopolysaccharidosis III
External Links
- Disease Ontology
- DOID:0111393
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2135 | EXTL2 | exostosin like glycosyltransferase 2 | |
| 2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
| 2799 | GNS | glucosamine (N-acetyl)-6-sulfatase | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 138050 | HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43909 | Exostosin-like 3 | |
| P15586 | N-acetylglucosamine-6-sulfatase | |
| P51688 | N-sulphoglucosamine sulphohydrolase | |
| P54802 | Alpha-N-acetylglucosaminidase | |
| Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase | |
| Q9UBQ6 | Exostosin-like 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002014 | Diarrhea |
| HP:0000365 | Hearing impairment |
| HP:0002751 | Kyphoscoliosis |
| HP:0001249 | Intellectual disability |
| HP:0003653 | Cellular metachromasia |
| HP:0001387 | Joint stiffness |
| HP:0000900 | Thickened ribs |
| HP:0002240 | Hepatomegaly |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002015 | Dysphagia |
