sphingolipidosis

Summary
Synonym
  • sphingolipidoses
Definition
A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
Super Class
lipid storage disease
External Links
Disease Ontology
DOID:1927
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying entries 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
6609 SMPD1 sphingomyelin phosphodiesterase 1
6610 SMPD2 sphingomyelin phosphodiesterase 2
8879 SGPL1 sphingosine-1-phosphate lyase 1
10724 OGA O-GlcNAcase
10924 SMPDL3A sphingomyelin phosphodiesterase acid like 3A

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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