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Gaucher disease type 3
1 OMIM reference -
1 associated gene
16 connected diseases
34 signs/symptoms
Disease Type of connection
Young adult-onset Parkinsonism
Fetal Gaucher disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Gaucher disease type 1
Gaucher disease type 2
Parkinsonian-pyramidal syndrome
Atypical Gaucher disease due to saposin C deficiency
Autosomal recessive distal renal tubular acidosis with deafness
Encephalopathy due to prosaposin deficiency
Infantile Krabbe disease
Juvenile myelomonocytic leukemia
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Syndromic multisystem autoimmune disease due to Itch deficiency
Synonym(s):
- Cerebral juvenile and adult form of Gaucher disease
- Chronic neuronopathic Gaucher disease
- Gaucher disease, subacute neuronopathic type
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare respiratory disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GBA P04062606463
Very frequent
- Abnormal eye movements / oculomotor disorder
- Asthenia / fatigue / weakness
- Bone pain
- Hepatomegaly / liver enlargement (excluding storage disease)
- Mutiple fractures / bone fragility
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteonecrosis / bone infarction
- Osteosclerosis / osteopetrosis / bone condensation
- Splenomegaly
- Strabismus / squint

Frequent
- Abnormal gait
- Anaemia
- Ataxia / incoordination / trouble of the equilibrium
- Bone marrow failure / pancytopenia
- Delayed bone age
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hydrops fetalis
- Hypergammaglobulinemia
- Hypertonia / spasticity / rigidity / stiffness
- Leukopenia / hypoleukocytosis
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Psychic / psychomotor regression / dementia / intellectual decline
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thrombocytopenia / thrombopenia

Occasional
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Cardiac valvulopathy
- Hematuria / microhematuria
- Interstitial / restrictive pneumopathy / restrictive respiratory syndrome
- Myocardium anomalies / myocarditis
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Proteinuria
- Pulmonary hypertension
- Repeat respiratory infections