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GENATLAS PHENOTYPE

last update : 04/11/06

Symbol	GBA3
Location	1q22
Name	Gaucher disease, types III
Corresponding gene	GBA
Main clinical features	subacute form of neuronopathic Gaucher disease with later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II type IIIA, which is characterized by myoclonus and dementia and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
Type	disease

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