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MIRAGE
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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15586 | N-acetylglucosamine-6-sulfatase | |
| P51688 | N-sulphoglucosamine sulphohydrolase | |
| Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002240 | Hepatomegaly |
| HP:0000900 | Thickened ribs |
| HP:0001387 | Joint stiffness |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000943 | Dysostosis multiplex |
| HP:0001507 | Growth abnormality |
| HP:0000250 | Dense calvaria |
| HP:0002015 | Dysphagia |
| HP:0000510 | Rod-cone dystrophy |
| HP:0001250 | Seizure |
