chronic neuronopathic Gaucher's disease
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
lysosomal storage disorder |
| gptkbp:affects |
children and young adults
|
| gptkbp:alsoKnownAs |
gptkb:Type_3_Gaucher's_disease
|
| gptkbp:causedBy |
mutation in GBA gene
|
| gptkbp:characterizedBy |
gptkb:bone
hepatosplenomegaly oculomotor abnormalities progressive neurological symptoms |
| gptkbp:firstDescribed |
1950s
|
| https://www.w3.org/2000/01/rdf-schema#label |
chronic neuronopathic Gaucher's disease
|
| gptkbp:ICD-10_code |
gptkb:E75.22
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:Gaucher's_disease
|
| gptkbp:symptom |
gptkb:horizontal_gaze_palsy
cognitive impairment seizures ataxia |
| gptkbp:treatment |
enzyme replacement therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Type_3_Gaucher's_disease
|
| gptkbp:bfsLayer |
6
|