acute neuronopathic Gaucher disease
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:Gaucher_disease_type_2 lysosomal storage disorder |
| gptkbp:affects |
gptkb:nervous_system
liver spleen |
| gptkbp:alternativeName |
gptkb:Gaucher_disease_type_2
infantile neuronopathic Gaucher disease |
| gptkbp:causedBy |
deficiency of glucocerebrosidase
|
| gptkbp:hasGeneticCause |
mutation in GBA gene
|
| gptkbp:hasOrphanetID |
ORPHA:79254
|
| https://www.w3.org/2000/01/rdf-schema#label |
acute neuronopathic Gaucher disease
|
| gptkbp:ICD-10_code |
gptkb:E75.22
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mortalityRate |
death usually by age 2-4 years
|
| gptkbp:OMIM |
230900
|
| gptkbp:onset |
infancy
|
| gptkbp:prognosis |
poor
|
| gptkbp:subspecies |
gptkb:Gaucher_disease
|
| gptkbp:symptom |
spasticity
seizures failure to thrive hepatosplenomegaly dysphagia stridor opisthotonus severe neurological impairment |
| gptkbp:treatment |
supportive care
palliative care |
| gptkbp:bfsParent |
gptkb:Type_2_Gaucher_disease
|
| gptkbp:bfsLayer |
7
|