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 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
427 ASAH1 N-acylsphingosine amidohydrolase 1
1118 CHIT1 chitinase 1
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
2581 GALC galactosylceramidase
2629 GBA1 glucosylceramidase beta 1
2717 GLA galactosidase alpha
2720 GLB1 galactosidase beta 1
3425 IDUA alpha-L-iduronidase
5660 PSAP prosaposin

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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