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
External Links
Disease Ontology
DOID:12804
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying entries 61 - 64 of 64 in total
Gene ID Gene Symbol Description Source
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
159371 SLC35G1 solute carrier family 35 member G1
285362 SUMF1 sulfatase modifying factor 1
347527 ARSH arylsulfatase family member H
Displaying 1 entry
Gene ID Gene Symbol Description Source
12091 Glb1 galactosidase, beta 1

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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