WARNING:
JavaScript is turned OFF. None of the links on this concept map will
work until it is reactivated.
If you need help turning JavaScript On, click here.
This Concept Map, created with IHMC CmapTools, has information related to: Gaucher, anemia (Hb 12.5g/dL) present in child, Ashkenazic Jews 4% frequency of being heterozygous (carrier) for Gaucher's disease, myelophthisis (replacement of hemopoietic tissue in bone marrow by abnormal tissue) contributing to leukopenia, severe bone and joint pain symptom of Gaucher's Disease (autosomal recessive), hepatomegaly clogging from Gaucher cell accumulation causes premature killing of RBC, splenomegaly clogging from Gaucher cell accumulation causes premature killing of RBC, IVS2+1G to A mutation means both are heterozygous (carrier) for Gaucher's disease, bone marrow accumulate Gaucher cells causing splenomegaly, Dad has mutation in splice-donor site of intron 2 characterized as IVS2+1G to A mutation, liver accumulate Gaucher cells causing hepatomegaly, spleen accumulate Gaucher cells causing hepatomegaly, IVS2+1G to A mutation result in formation of nonfunctional enzyme of WBC B-glucosidase, repeated bruising present in child, glucocerebrosidase deficiency prevents production of RBC membrane components, WBC B-glucosidase assay revealed in child 81% reduction in normal enzymatic activity, liver accumulate Gaucher cells causing splenomegaly, skeletal problems including severe bone and joint pain, lysosome contains glucocerebrosidase, reticuloendothelial system includes liver, Gaucher's Disease (autosomal recessive) involves reduced activity of WBC B-glucosidase