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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:0002098 | Respiratory distress |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002136 | Broad-based gait |
| HP:0002179 | Opisthotonus |
| HP:0002273 | Tetraparesis |
| HP:0002301 | Hemiplegia |
| HP:0002312 | Clumsiness |
| HP:0002313 | Spastic paraparesis |
| HP:0002344 | Progressive neurologic deterioration |
| HP:0002353 | EEG abnormality |
