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mucopolysaccharidosis type IIID
Summary
- Synonym
-
- GNS deficiency
- MPS IIID
- MPS3D
- Mucopolysaccharidosis type 3D
- N-acetylglucosamine-6-sulfatase deficiency
- Sanfilippo syndrome D
- Sanfilippo syndrome type D
- Definition
- A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.
- Super Class
- autosomal recessive disease mucopolysaccharidosis III
External Links
- Disease Ontology
- DOID:0111402
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15586 | N-acetylglucosamine-6-sulfatase | |
| P51688 | N-sulphoglucosamine sulphohydrolase | |
| P54802 | Alpha-N-acetylglucosaminidase | |
| Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001744 | Splenomegaly |
| HP:0001761 | Pes cavus |
| HP:0001771 | Achilles tendon contracture |
| HP:0002007 | Frontal bossing |
| HP:0002014 | Diarrhea |
| HP:0002015 | Dysphagia |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0002208 | Coarse hair |
| HP:0002240 | Hepatomegaly |
| HP:0002307 | Drooling |
