Statements (30)
Predicate | Object |
---|---|
gptkbp:instanceOf |
lysosomal storage disorder
Gaucher's disease subtype |
gptkbp:accumulationOf |
gptkb:glucocerebroside
|
gptkbp:affects |
central nervous system
liver spleen |
gptkbp:alsoKnownAs |
gptkb:acute_neuronopathic_Gaucher's_disease
|
gptkbp:characterizedBy |
spasticity
seizures failure to thrive hepatosplenomegaly early onset severe neurological involvement |
gptkbp:diagnosedBy |
genetic testing
enzyme assay |
gptkbp:enzymeReplacementTherapy |
not effective for neurological symptoms
|
gptkbp:firstDescribed |
early 20th century
|
https://www.w3.org/2000/01/rdf-schema#label |
Type 2 Gaucher's disease
|
gptkbp:inheritance |
autosomal recessive
|
gptkbp:lifeExpectancy |
usually less than 2 years
|
gptkbp:mutationAssociatedWith |
gptkb:GBA_gene
|
gptkbp:onset |
infancy
|
gptkbp:prevalence |
rare
|
gptkbp:prognosis |
poor
|
gptkbp:symptom |
respiratory problems
feeding difficulties rapid neurodegeneration |
gptkbp:treatment |
supportive care
|
gptkbp:bfsParent |
gptkb:Gaucher's_disease
|
gptkbp:bfsLayer |
5
|