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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 |
|---|---|---|
| Q6P1J6 | Phospholipase B1, membrane-associated |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007199 | Progressive spastic paraparesis |
| HP:0007305 | CNS demyelination |
| HP:0007340 | Lower limb muscle weakness |
| HP:0007361 | Abnormal pons morphology |
| HP:0008936 | Axial hypotonia |
| HP:0009062 | Infantile axial hypotonia |
| HP:0009830 | Peripheral neuropathy |
| HP:0010729 | Cherry red spot of the macula |
| HP:0010830 | Impaired tactile sensation |
