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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
External Links
- Disease Ontology
- DOID:10587
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
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: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 |
