Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
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
Disease Ontology
DOID:3211
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 14 of 14 in total
Gene ID Gene Symbol Description Source
26503 SLC17A5 solute carrier family 17 member 5
54896 SLC66A1 solute carrier family 66 member 1
64601 VPS16 VPS16 core subunit of CORVET and HOPS complexes
768239 PSAPL1 prosaposin like 1
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
260302 Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3
Displaying all 5 entries
Gene ID Gene Symbol Description Source
25524 Psap prosaposin
290923 Aga aspartylglucosaminidase
294673 Hexb hexosaminidase subunit beta
362642 Slc66a1 solute carrier family 66 member 1
363103 Slc17a5 solute carrier family 17 member 5
Displaying all 5 entries
Gene ID Gene Symbol Description Source
31808 Hexo2 Hexosaminidase 2
31902 Gga Golgi-localized, gamma-adaptin ear containing, ARF binding protein
35989 CG1827 uncharacterized protein
38528 Hexo1 Hexosaminidase 1
250735 fdl fused lobes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
173818 ctsa-1.1 Serine carboxypeptidase ctsa-1.1
174057 ctsa-4.1 Serine carboxypeptidase ctsa-4.1
174189 ctsa-3.1 Serine carboxypeptidase ctsa-3.1
174802 ctsa-1.2 Serine carboxypeptidase ctsa-1.2
176317 slc-17.2 putative transporter slc-17.2
179660 gana-1 Alpha-galactosidase
180533 hex-1 Beta-hexosaminidase A
180550 R04B3.2 Glycosylasparaginase beta chain
3565323 laat-1 Lysosomal amino acid transporter 1
Displaying all 4 entries
Gene ID Gene Symbol Description Source
850671 YCT1 Yct1p
852436 ATG42 carboxypeptidase C
854061 YPQ1 cationic amino acid transporter
855343 PRC1 carboxypeptidase C PRC1
About Release Notes Help Feedback
International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.1.0

Last updated: December 9, 2024