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References OMIM Gene GeneReviews HGMD HGNC
last update : 04/11/06
Symbol GBA2
Location 1q22
Name Gaucher disease, types II
Corresponding gene GBA
Main clinical features acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age, patients usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age; neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement
Genetic determination autosomal recessive
Related entries including perinatal lethal Gaucher disease type Collodion (OMIM608013)
Function/system disorder metabolism/lysosomal
Type disease