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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 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
427 ASAH1 N-acylsphingosine amidohydrolase 1
1118 CHIT1 chitinase 1
2581 GALC galactosylceramidase
2720 GLB1 galactosidase beta 1
3425 IDUA alpha-L-iduronidase
3482 IGF2R insulin like growth factor 2 receptor
5319 PLA2G1B phospholipase A2 group IB
5660 PSAP prosaposin
8560 DEGS1 delta 4-desaturase, sphingolipid 1
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
The Human Phenotype Ontology
Displaying entries 71 - 80 of 116 in total
HPO ID HPO Term
HP:0003487 Babinski sign
HP:0003547 Shoulder girdle muscle weakness
HP:0003552 Muscle stiffness
HP:0004302 Functional motor deficit
HP:0004326 Cachexia
HP:0004466 Delayed brainstem auditory evoked response conduction time
HP:0005968 Temperature instability
HP:0006801 Hyperactive deep tendon reflexes
HP:0007018 Attention deficit hyperactivity disorder
HP:0007103 Hypointensity of cerebral white matter on MRI
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