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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 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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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