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Standards Ontologies Notations
mucopolysaccharidosis IV

Summary
Synonym
  • Mucopolysaccharidosis, MPS-IV
  • deficiency of N-acetylgalactosamine-6-sulphatase
  • deficiency of chondroitinsulphatase
  • galactosamine-6-sulfatase deficiency
Definition
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
Super Class
mucopolysaccharidosis
Disease Ontology
DOID:12804
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2588 GALNS galactosamine (N-acetyl)-6-sulfatase
2720 GLB1 galactosidase beta 1
6356 CCL11 C-C motif chemokine ligand 11
Displaying all 3 entries
Gene ID Gene Symbol Description Source
12091 Glb1 galactosidase, beta 1
20292 Ccl11 C-C motif chemokine ligand 11
50917 Galns galactosamine (N-acetyl)-6-sulfatase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
29397 Ccl11 C-C motif chemokine ligand 11
292073 Galns galactosamine (N-acetyl)-6-sulfatase
Displaying 1 entry
Gene ID Gene Symbol Description Source
791159 galns galactosamine (N-acetyl)-6-sulfatase
Displaying 1 entry
Gene ID Gene Symbol Description Source
188583 bgal-1 Beta-galactosidase
Related Glycoprotein
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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: December 9, 2024