mucopolysaccharidosis VI

Summary
Synonym
  • MPS VI - Maroteaux-Lamy syndrome
  • Maroteaux - Lamy syndrome
  • Maroteaux-Lamy syndrome
  • arylsulfatase B deficiency
  • deficiency of N-acetylgalactosamine-4-sulfatase
Definition
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
Super Class
mucopolysaccharidosis
External Links
Disease Ontology
DOID:12800
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 41 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
176 ACAN aggrecan
353 APRT adenine phosphoribosyltransferase
410 ARSA arylsulfatase A
411 ARSB arylsulfatase B
821 CANX calnexin
847 CAT catalase
912 CD1D CD1d molecule
952 CD38 CD38 molecule
1800 DPEP1 dipeptidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
21926 Tnf tumor necrosis factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
The Human Phenotype Ontology
Displaying entries 61 - 63 of 63 in total
HPO ID HPO Term
HP:0011941 Anterior wedging of L2
HP:0012185 Constrictive median neuropathy
HP:0012450 Chronic constipation
Displaying 1 entry
Gene ID Gene Symbol Description
411 ARSB arylsulfatase B

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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