mucopolysaccharidosis

Summary
Definition
A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
Super Class
lysosomal storage disease
External Links
Disease Ontology
DOID:12798
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 40 of 41 in total
Gene ID Gene Symbol Description Source
8692 HYAL2 hyaluronidase 2
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
10724 OGA O-GlcNAcase
22901 ARSG arylsulfatase G
79158 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
84572 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
153642 ARSK arylsulfatase family member K
159371 SLC35G1 solute carrier family 35 member G1
285362 SUMF1 sulfatase modifying factor 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
15586 Hyal1 hyaluronoglucosaminidase 1
110006 Gusb glucuronidase, beta
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24434 Gusb glucuronidase, beta
367166 Hyal1 hyaluronidase 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