lipid storage disease

Summary
Synonym
  • Lipoid storage diseas
  • inborn lipid storage disorder
  • lipoidosis
Definition
A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
Super Class
lysosomal storage disease
External Links
Disease Ontology
DOID:9455
Mondo Disease Ontology
MeSH
UMLS
Related Genes
Displaying entries 11 - 20 of 51 in total
Gene ID Gene Symbol Description Source
2548 GAA alpha glucosidase
2581 GALC galactosylceramidase
2629 GBA1 glucosylceramidase beta 1
2632 GBE1 1,4-alpha-glucan branching enzyme 1
2717 GLA galactosidase alpha
2720 GLB1 galactosidase beta 1
2990 GUSB glucuronidase beta
3383 ICAM1 intercellular adhesion molecule 1
3423 IDS iduronate 2-sulfatase
3425 IDUA alpha-L-iduronidase

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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