chronic neuronopathic Gaucher disease
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
lysosomal storage disorder type 3 Gaucher disease |
| gptkbp:alternativeName |
gptkb:Gaucher_disease_type_3
|
| gptkbp:causedBy |
deficiency of glucocerebrosidase
|
| gptkbp:frequency |
rare
|
| gptkbp:hasGeneticBasis |
mutation in GBA gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
chronic neuronopathic Gaucher disease
|
| gptkbp:ICD-10_code |
gptkb:E75.22
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:onset |
childhood
|
| gptkbp:subclassOf |
gptkb:Gaucher_disease
|
| gptkbp:symptom |
gptkb:bone
cognitive impairment seizures hepatosplenomegaly ataxia neurological symptoms oculomotor abnormalities |
| gptkbp:treatment |
enzyme replacement therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Type_3_Gaucher_disease
|
| gptkbp:bfsLayer |
7
|