Gaucher disease type 2

Orpha code: 77260OMIM code: 230900

Definition

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

Disease data
Classification

Clinical subtype

Synonyms
Acute neuronopathic Gaucher disease
Dziecięca mózgowa choroba Gauchera
Ostra neuropatyczna choroba Gauchera
Infantile cerebral Gaucher disease
ORPHA code
77260
OMIM code
230900
ICD10 code
E75.2
ICD11 code
-

No additional description.

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