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 1 - 10 of 48 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
410 ARSA arylsulfatase A
411 ARSB arylsulfatase B
427 ASAH1 N-acylsphingosine amidohydrolase 1
912 CD1D CD1d molecule
1118 CHIT1 chitinase 1
1497 CTNS cystinosin, lysosomal cystine transporter
2517 FUCA1 alpha-L-fucosidase 1
2523 FUT1 fucosyltransferase 1 (H blood group)
2548 GAA alpha glucosidase
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

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