Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
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
Krabbe disease

Summary
Synonym
  • Diffuse globoid body sclerosis
  • GLOBOID CELL LEUKOENCEPHALOPATHY
  • Galactosylceramide beta-galactosidase deficiency
  • Krabbe's disease
  • Krabbe's leukodystrophy
  • beta galactocerebrosidase deficiency
  • globoid cell leukodystrophy
Super Class
sphingolipidosis
External Links
Disease Ontology
DOID:10587
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 12 of 12 in total
Gene ID Gene Symbol Description Source
10682 EBP EBP cholestenol delta-isomerase
151056 PLB1 phospholipase B1
Displaying 1 entry
Gene ID Gene Symbol Description Source
14420 Galc galactosylceramidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
449649 galca galactosylceramidase a
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
446948 galc.L galactosylceramidase L homeolog Xenopus laevis (African clawed frog)
779723 galc galactosylceramidase Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
183002 C29E4.10 Putative galactocerebrosidase
Related Glycoprotein
Displaying entry 11 - 11 of 11 in total
UniProt ID Protein Name Source
Q6P1J6 Phospholipase B1, membrane-associated
The Human Phenotype Ontology
Displaying entries 81 - 90 of 116 in total
HPO ID HPO Term
HP:0007141 Sensorimotor neuropathy
HP:0007199 Progressive spastic paraparesis
HP:0007305 CNS demyelination
HP:0007340 Lower limb muscle weakness
HP:0007361 Abnormal pons morphology
HP:0008936 Axial hypotonia
HP:0009062 Infantile axial hypotonia
HP:0009830 Peripheral neuropathy
HP:0010729 Cherry red spot of the macula
HP:0010830 Impaired tactile sensation
Displaying all 2 entries
Gene ID Gene Symbol Description
2581 GALC galactosylceramidase
5660 PSAP prosaposin
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 v4.0.0

Last updated: August 19, 2024