Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Genes
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6P1J6 | Phospholipase B1, membrane-associated |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001350 | Slurred speech |
| HP:0001508 | Failure to thrive |
| HP:0001601 | Laryngomalacia |
| HP:0001761 | Pes cavus |
| HP:0001955 | Unexplained fevers |
| HP:0002013 | Vomiting |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002061 | Lower limb spasticity |
| HP:0002062 | Abnormal pyramidal tract morphology |
| HP:0002068 | Neuromuscular dysphagia |
