5a. Type 1 Gaucher


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Type 1 Gaucher Disease can present at any time, but you don’t get the most severe phenotypes like the skin abnormality that is only present in type 2 Gaucher Disease. Hepatosplenomegaly is quite frequent, bone crisis may occur, there are no cardiac manifestations, there are no neuro-degenerating manifestations and the survival is variable, ethnic predilection is pan-ethnic but it is more common among people of Ashkenazi jewish ancestry and this type of Gaucher Disease is almost invariably associated with at least one N370S disease mutation.

 

 

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