| 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
|
| Name
| glucosidase, beta, acid (GBA)
|
| 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
| |