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 21 - 30 of 64 in total
Gene ID Gene Symbol Description Source
2799 GNS glucosamine (N-acetyl)-6-sulfatase
2990 GUSB glucuronidase beta
3339 HSPG2 heparan sulfate proteoglycan 2
3373 HYAL1 hyaluronidase 1
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase
3897 L1CAM L1 cell adhesion molecule
3955 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
4125 MAN2B1 mannosidase alpha class 2B member 1
4669 NAGLU N-acetyl-alpha-glucosaminidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
12091 Glb1 galactosidase, beta 1

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024