|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:lysosomal_storage_disease
|
|
gptkbp:affects
|
liver
spleen
bone marrow
nervous system (in Types 2 and 3)
|
|
gptkbp:cause
|
accumulation of glucocerebroside
|
|
gptkbp:causedBy
|
mutation in GBA gene
|
|
gptkbp:characterizedBy
|
deficiency of glucocerebrosidase
|
|
gptkbp:diagnosedBy
|
genetic testing
enzyme assay
|
|
gptkbp:firstDescribed
|
gptkb:Philippe_Gaucher
1882
|
|
gptkbp:hasType
|
gptkb:Type_1_Gaucher's_disease
gptkb:Type_2_Gaucher's_disease
gptkb:Type_3_Gaucher's_disease
|
|
gptkbp:ICD-10_code
|
E75.2
|
|
gptkbp:inheritsFrom
|
autosomal recessive
|
|
gptkbp:MeSH_ID
|
D005782
|
|
gptkbp:mostCommonType
|
gptkb:Type_1_Gaucher's_disease
|
|
gptkbp:namedAfter
|
gptkb:Philippe_Gaucher
|
|
gptkbp:OMIM
|
230800
|
|
gptkbp:prevalence
|
higher in Ashkenazi Jewish population
|
|
gptkbp:symptom
|
gptkb:anemia
fatigue
hepatosplenomegaly
bone pain
thrombocytopenia
|
|
gptkbp:treatment
|
gptkb:enzyme_replacement_therapy
substrate reduction therapy
|
|
gptkbp:bfsParent
|
gptkb:Ashkenazi_Jews
|
|
gptkbp:bfsLayer
|
5
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Gaucher's disease
|