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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
| 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 |
|---|---|---|
| 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:0000020 | Urinary incontinence |
| HP:0000365 | Hearing impairment |
| HP:0000467 | Neck muscle weakness |
| HP:0000505 | Visual impairment |
| HP:0000565 | Esotropia |
| HP:0000572 | Visual loss |
| HP:0000613 | Photophobia |
| HP:0000618 | Blindness |
| HP:0000648 | Optic atrophy |
| HP:0000649 | Abnormality of visual evoked potentials |
