|
gptkbp:instanceOf
|
genetic disorder
rare disease
lysosomal storage disorder
|
|
gptkbp:accumulationOf
|
gptkb:glucocerebroside
|
|
gptkbp:alsoKnownAs
|
gptkb:acute_neuronopathic_Gaucher_disease
|
|
gptkbp:characterizedBy
|
failure to thrive
hepatosplenomegaly
rapid neurodegeneration
severe neurological involvement
|
|
gptkbp:diagnosedBy
|
genetic testing
enzyme assay
|
|
gptkbp:enzymeDeficiency
|
gptkb:glucocerebrosidase
|
|
gptkbp:firstDescribed
|
1930s
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Gaucher disease type 2
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:lifeExpectancy
|
usually less than 2 years
|
|
gptkbp:mutationAssociatedWith
|
gptkb:GBA_gene
|
|
gptkbp:notResponsiveTo
|
enzyme replacement therapy
|
|
gptkbp:onset
|
infancy
|
|
gptkbp:parent
|
gptkb:Gaucher_disease
|
|
gptkbp:prevalence
|
very rare
|
|
gptkbp:prognosis
|
poor
|
|
gptkbp:symptom
|
respiratory problems
enlarged liver
enlarged spleen
spasticity
seizures
failure to thrive
swallowing difficulties
|
|
gptkbp:treatment
|
supportive care
palliative care
|
|
gptkbp:bfsParent
|
gptkb:acute_neuronopathic_Gaucher's_disease
|
|
gptkbp:bfsLayer
|
7
|