ORPHA:77259
Gaucher disease type 1
Also called Non-cerebral juvenile Gaucher disease
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- 1-9 / 100 000 (Europe)
- Rarity class
- 1-9 / 100 000
ORPHA:77259 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Delayed puberty
- Osteopenia
- Osteoporosis
- Growth delay
- Splenomegaly
- Hypersplenism