Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0011463 | Childhood onset |
| HP:0001507 | Growth abnormality |
| HP:0000752 | Hyperactivity |
| HP:0002360 | Sleep abnormality |
| HP:0000250 | Dense calvaria |
| HP:0002014 | Diarrhea |
| HP:0001249 | Intellectual disability |
