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 21 - 30 of 41 in total
Gene ID Gene Symbol Description Source
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase
3897 L1CAM L1 cell adhesion molecule
4125 MAN2B1 mannosidase alpha class 2B member 1
4669 NAGLU N-acetyl-alpha-glucosaminidase
4758 NEU1 neuraminidase 1
4907 NT5E 5'-nucleotidase ecto
5476 CTSA cathepsin A
6448 SGSH N-sulfoglucosamine sulfohydrolase
6677 SPAM1 sperm adhesion molecule 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