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 21 - 30 of 48 in total
Gene ID Gene Symbol Description Source
3373 HYAL1 hyaluronidase 1
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase
3482 IGF2R insulin like growth factor 2 receptor
3988 LIPA lipase A, lysosomal acid type
4125 MAN2B1 mannosidase alpha class 2B member 1
4126 MANBA mannosidase beta
4669 NAGLU N-acetyl-alpha-glucosaminidase
4758 NEU1 neuraminidase 1
5305 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
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

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Acknowledgements

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Last updated: August 19, 2024