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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 |
|---|---|---|
| O43909 | Exostosin-like 3 | |
| O60502 | Protein O-GlcNAcase | |
| P15586 | N-acetylglucosamine-6-sulfatase | |
| P15848 | Arylsulfatase B | |
| P22304 | Iduronate 2-sulfatase | |
| P28329 | Choline O-acetyltransferase | |
| P35475 | Alpha-L-iduronidase | |
| P51688 | N-sulphoglucosamine sulphohydrolase | |
| P54802 | Alpha-N-acetylglucosaminidase | |
| Q16394 | Exostosin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001537 | Umbilical hernia |
| HP:0000900 | Thickened ribs |
| HP:0002650 | Scoliosis |
| HP:0000280 | Coarse facial features |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0001250 | Seizure |
| HP:0000023 | Inguinal hernia |
| HP:0001387 | Joint stiffness |
| HP:0002240 | Hepatomegaly |
| HP:0000664 | Synophrys |
