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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15121 | Sphingolipid delta(4)-desaturase DES1 | |
| P07602 | Prosaposin | |
| P11717 | Cation-independent mannose-6-phosphate receptor | |
| P15289 | Arylsulfatase A | |
| P16278 | Beta-galactosidase | |
| P35475 | Alpha-L-iduronidase | |
| P54803 | Galactocerebrosidase | |
| Q13231 | Chitotriosidase-1 | |
| Q13510 | Acid ceramidase | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
- The Human Phenotype Ontology
| 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 |
