Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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

Remark(s)