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mucopolysaccharidosis type IIIA
Summary
- Synonym
-
- MPS3A
- MPSIIIA
- Sanfilippo syndrome type A
- heparan sulfamidase deficiency
- mucopolysaccharidosis III-A
- mucopolysaccharidosis type 3A
- mucopolysaccharidosis type IIIA (Sanfilippo A)
- Definition
- A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3.
- Super Class
- autosomal recessive disease mucopolysaccharidosis III
External Links
- Disease Ontology
- DOID:0111395
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q68CP4 | Heparan-alpha-glucosaminide N-acetyltransferase | |
| Q8NBK3 | Formylglycine-generating enzyme | |
| Q93063 | Exostosin-2 | |
| Q9UBQ6 | Exostosin-like 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003309 | Ovoid thoracolumbar vertebrae |
| HP:0001007 | Hirsutism |
| HP:0001744 | Splenomegaly |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001263 | Global developmental delay |
| HP:0002208 | Coarse hair |
| HP:0000365 | Hearing impairment |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0000943 | Dysostosis multiplex |
| HP:0001670 | Asymmetric septal hypertrophy |
