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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 |
|---|---|---|
| Q6P1J6 | Phospholipase B1, membrane-associated |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010846 | EEG with persistent abnormal rhythmic activity |
| HP:0011096 | Peripheral demyelination |
| HP:0011400 | Abnormal CNS myelination |
| HP:0011441 | Abnormal medulla oblongata morphology |
| HP:0011448 | Ankle clonus |
| HP:0011470 | Nasogastric tube feeding in infancy |
| HP:0011968 | Feeding difficulties |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0012706 | Elevated brain choline level by MRS |
| HP:0012708 | Reduced brain N-acetyl aspartate level by MRS |
