ORPHA:77261
Gaucher disease type 3
Also called Cerebral juvenile and adult form of Gaucher disease, Chronic neuronopathic Gaucher disease, Gaucher disease, subacute neuronopathic type
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- <1 / 1 000 000 (Europe)
- Rarity class
- <1 / 1 000 000
ORPHA:77261 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Splenomegaly
- Hepatomegaly
- Increased susceptibility to fractures
- Osteolysis
- Avascular necrosis
- Fatigue