acute neuronopathic Gaucher's disease
GPTKB entity
Statements (31)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:disease
gptkb:type_2_Gaucher's_disease lysosomal storage disorder |
gptkbp:affectsOrgan |
brain
liver spleen |
gptkbp:alternativeName |
gptkb:Gaucher_disease_type_2
gptkb:infantile_Gaucher's_disease |
gptkbp:causedBy |
deficiency of glucocerebrosidase
|
gptkbp:firstDescribed |
early 20th century
|
gptkbp:hasEnzymeDeficiency |
gptkb:glucocerebrosidase
|
gptkbp:hasGeneticAlteration |
gptkb:GBA_gene
|
https://www.w3.org/2000/01/rdf-schema#label |
acute neuronopathic Gaucher's disease
|
gptkbp:ICD-10_code |
gptkb:E75.22
|
gptkbp:inheritance |
autosomal recessive
|
gptkbp:mortalityRate |
high
|
gptkbp:OMIM |
230900
|
gptkbp:onset |
infancy
|
gptkbp:prevalence |
rare
|
gptkbp:prognosis |
poor
|
gptkbp:symptom |
spasticity
seizures failure to thrive hepatosplenomegaly neurological deterioration strabismus opisthotonus |
gptkbp:treatment |
supportive care
palliative care |
gptkbp:bfsParent |
gptkb:Type_2_Gaucher's_disease
|
gptkbp:bfsLayer |
6
|