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MIRAGE
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
Disease Ontology
DOID:12800
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
11881 Arsb arylsulfatase B
21926 Tnf tumor necrosis factor
21943 Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11
23794 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5
Displaying all 4 entries
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
25227 Arsb arylsulfatase B
117516 Tnfsf11 TNF superfamily member 11
304135 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100488158 adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 Xenopus tropicalis (tropical clawed frog)
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 31 - 40 of 63 in total
HPO ID HPO Term
HP:0002092 Pulmonary arterial hypertension
HP:0002240 Hepatomegaly
HP:0002318 Cervical myelopathy
HP:0002656 Epiphyseal dysplasia
HP:0002751 Kyphoscoliosis
HP:0002788 Recurrent upper respiratory tract infections
HP:0002829 Arthralgia
HP:0002857 Genu valgum
HP:0002866 Hypoplastic iliac wing
HP:0002869 Flared iliac wing
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: February 17, 2025