mucopolysaccharidosis III

Summary
Synonym
  • Mucopolysaccharidosis, MPS-III
  • N-sulphoglucosamine sulphohydrolase deficiency
  • Sanfilippo's syndrome
  • heparan sulfate sulfatase deficiency
Definition
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
Super Class
mucopolysaccharidosis
External Links
Disease Ontology
DOID:12801
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 40 of 44 in total
Gene ID Gene Symbol Description Source
5476 CTSA cathepsin A
6448 SGSH N-sulfoglucosamine sulfohydrolase
6677 SPAM1 sperm adhesion molecule 1
8692 HYAL2 hyaluronidase 2
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
10724 OGA O-GlcNAcase
22901 ARSG arylsulfatase G
51172 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
79158 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
84572 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma
Related Glycoprotein
Displaying entry 41 - 41 of 41 in total
UniProt ID Protein Name Source
Q9UK23 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
The Human Phenotype Ontology
Displaying entries 51 - 60 of 69 in total
HPO ID HPO Term
HP:0002355 Difficulty walking
HP:0002360 Sleep abnormality
HP:0002656 Epiphyseal dysplasia
HP:0002788 Recurrent upper respiratory tract infections
HP:0002943 Thoracic scoliosis
HP:0002987 Elbow flexion contracture
HP:0003309 Ovoid thoracolumbar vertebrae
HP:0003593 Infantile onset
HP:0003653 Cellular metachromasia
HP:0003676 Progressive
Displaying 1 entry
Gene ID Gene Symbol Description
2799 GNS glucosamine (N-acetyl)-6-sulfatase

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Last updated: August 19, 2024