type 2 Gaucher's disease

GPTKB entity

Statements (20)
Predicate Object
gptkbp:instanceOf genetic disorder
lysosomal storage disease
Gaucher's disease subtype
gptkbp:accumulationOf gptkb:glucocerebroside
gptkbp:alsoKnownAs gptkb:acute_neuronopathic_Gaucher's_disease
gptkbp:characterizedBy failure to thrive
hepatosplenomegaly
rapid neurodegeneration
severe neurological involvement
gptkbp:enzymeDeficiency gptkb:glucocerebrosidase
gptkbp:firstDescribed 1950s
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:prognosis poor
gptkbp:treatment supportive care
gptkbp:bfsParent gptkb:acute_neuronopathic_Gaucher's_disease
gptkbp:bfsLayer 7