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 11 - 20 of 44 in total
Gene ID Gene Symbol Description Source
1800 DPEP1 dipeptidase 1
1836 SLC26A2 solute carrier family 26 member 2
2131 EXT1 exostosin glycosyltransferase 1
2132 EXT2 exostosin glycosyltransferase 2
2135 EXTL2 exostosin like glycosyltransferase 2
2137 EXTL3 exostosin like glycosyltransferase 3
2517 FUCA1 alpha-L-fucosidase 1
2523 FUT1 fucosyltransferase 1 (H blood group)
2588 GALNS galactosamine (N-acetyl)-6-sulfatase
2720 GLB1 galactosidase beta 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 69 in total
HPO ID HPO Term
HP:0000369 Low-set ears
HP:0000403 Recurrent otitis media
HP:0000463 Anteverted nares
HP:0000470 Short neck
HP:0000490 Deeply set eye
HP:0000505 Visual impairment
HP:0000574 Thick eyebrow
HP:0000662 Nyctalopia
HP:0000664 Synophrys
HP:0000711 Restlessness
Displaying 1 entry
Gene ID Gene Symbol Description
2799 GNS glucosamine (N-acetyl)-6-sulfatase

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Last updated: August 19, 2024