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
Disease Ontology
DOID:12798
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
3373 HYAL1 hyaluronidase 1
153642 ARSK arylsulfatase family member K
Displaying all 2 entries
Gene ID Gene Symbol Description Source
74008 Arsg arylsulfatase G
77041 Arsk arylsulfatase K
Displaying 1 entry
Gene ID Gene Symbol Description Source
175063 K09E4.4 Alpha-N-acetylglucosaminidase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9NAP6 Alpha-N-acetylglucosaminidase

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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: April 7, 2025