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GENATLAS PHENOTYPE

last update : 3/07/2006

Symbol	GBA1
Location	1q22
Name	Gaucher disease, types I
Corresponding gene	GBA
Main clinical features	corneal opacities and severe neonatal Gaucher disease type II with hydrops fetalis and/or ichtyosis, arthrogryposis, neuronal apoptosis and early death, macrophage enzyme replacement therapy is effective in the non neurological type I
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
Type	disease

Gene product

Name	glucosidase, beta, acid (GBA)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types			four mutations N3705,C84-85 insG,IVS2 +1G to A, L444P account for more than 95p100 of cases in Askenazi Jews and about 50p100 of non-jewish patients

Remark(s)