Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Gaucher's_disease_subtype
gptkb:lysosomal_storage_disorder |
| 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
|
| 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 |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
Type 2 Gaucher's disease
|