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MIRAGE
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
Disease Ontology
DOID:10587
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14420 Galc galactosylceramidase
19156 Psap prosaposin
Displaying 1 entry
Gene ID Gene Symbol Description Source
25524 Psap prosaposin
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
The Human Phenotype Ontology
Displaying entries 51 - 60 of 116 in total
HPO ID HPO Term
HP:0002355 Difficulty walking
HP:0002359 Frequent falls
HP:0002361 Psychomotor deterioration
HP:0002371 Loss of speech
HP:0002373 Febrile seizure (within the age range of 3 months to 6 years)
HP:0002376 Developmental regression
HP:0002418 Abnormal midbrain morphology
HP:0002421 Poor head control
HP:0002445 Tetraplegia
HP:0002492 Abnormal corticospinal tract morphology
Displaying all 2 entries
Gene ID Gene Symbol Description
2581 GALC galactosylceramidase
5660 PSAP prosaposin
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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

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Last updated: February 17, 2025