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