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 41 - 50 of 69 in total
HPO ID HPO Term
HP:0001744 Splenomegaly
HP:0001761 Pes cavus
HP:0001771 Achilles tendon contracture
HP:0002007 Frontal bossing
HP:0002014 Diarrhea
HP:0002015 Dysphagia
HP:0002159 Heparan sulfate excretion in urine
HP:0002208 Coarse hair
HP:0002240 Hepatomegaly
HP:0002307 Drooling
Displaying 1 entry
Gene ID Gene Symbol Description
2799 GNS glucosamine (N-acetyl)-6-sulfatase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024