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
Disease Ontology
DOID:3211
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
5476 CTSA cathepsin A
Displaying 1 entry
Gene ID Gene Symbol Description Source
235504 Slc17a5 solute carrier family 17 (anion/sugar transporter), member 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
31902 Gga Golgi-localized, gamma-adaptin ear containing, ARF binding protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
3565323 laat-1 Lysosomal amino acid transporter 1
Related Glycoprotein

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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