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 1 - 10 of 64 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
176 ACAN aggrecan
224 ALDH3A2 aldehyde dehydrogenase 3 family member A2
249 ALPL alkaline phosphatase, biomineralization associated
353 APRT adenine phosphoribosyltransferase
410 ARSA arylsulfatase A
411 ARSB arylsulfatase B
821 CANX calnexin
847 CAT catalase
912 CD1D CD1d molecule
Displaying 1 entry
Gene ID Gene Symbol Description Source
12091 Glb1 galactosidase, beta 1

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Last updated: August 19, 2024