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Standards Ontologies Notations
lysosomal storage disease

Summary
Synonym
  • disorder of lysosomal enzyme
  • inborn lysosomal enzyme disorder
  • lysosomal storage metabolism disorder
Definition
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
Super Class
inherited metabolic disorder
External Links
Disease Ontology
DOID:3211
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 40 of 48 in total
Gene ID Gene Symbol Description Source
5476 CTSA cathepsin A
5538 PPT1 palmitoyl-protein thioesterase 1
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5660 PSAP prosaposin
6448 SGSH N-sulfoglucosamine sulfohydrolase
6476 SI sucrase-isomaltase
6609 SMPD1 sphingomyelin phosphodiesterase 1
8972 MGAM maltase-glucoamylase
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10457 GPNMB glycoprotein nmb
Displaying 1 entry
Gene ID Gene Symbol Description Source
15212 Hexb hexosaminidase B
Displaying 1 entry
Gene ID Gene Symbol Description Source
294673 Hexb hexosaminidase subunit beta
Displaying all 3 entries
Gene ID Gene Symbol Description Source
31808 Hexo2 Hexosaminidase 2
38528 Hexo1 Hexosaminidase 1
250735 fdl fused lobes
Displaying 1 entry
Gene ID Gene Symbol Description Source
180533 hex-1 Beta-hexosaminidase A
Related Glycoprotein
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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