Type 2 Gaucher's disease

GPTKB entity

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