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1 OMIM reference -
2 associated genes
35 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 22
1 OMIM reference -
1 associated gene
34 signs/symptoms
Gaucher disease type 1
Gaucher disease type 3

GBA GBA
SCARB2


COMMON
GENES
GBA



Citations in the biomedical literature:


Gaucher disease type 1
GBA SCARB2
Gaucher disease type 3



Gaucher disease type 1
Gaucher disease type 3

Synonym(s):
- Non-cerebral juvenile Gaucher disease

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 (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 -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
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
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Anaemia
- Asthenia / fatigue / weakness
- Bone marrow failure / pancytopenia
- Bone pain
- Delayed bone age
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hematuria / microhematuria
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypergammaglobulinemia
- Interstitial / restrictive pneumopathy / restrictive respiratory syndrome
- Leukopenia / hypoleukocytosis
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Mutiple fractures / bone fragility
- Myocardium anomalies / myocarditis
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteonecrosis / bone infarction
- Osteosclerosis / osteopetrosis / bone condensation
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Proteinuria
- Pulmonary hypertension
- Splenomegaly
- Thrombocytopenia / thrombopenia


Gaucher disease type 1
Gaucher disease type 3

Very frequent
- Late puberty / hypogonadism / hypogenitalism
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Frequent
- Acute abdominal pain / colic
- Bruisability
- Gingivorrhagia / gingival bleeding
- Kyphosis

Occasional
- Ascitis
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Cirrhosis
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Edema of the legs / lower limbs
- Hepatitis / icterus / cholestasis
- Osteoarthritis


Very frequent
- Abnormal eye movements / oculomotor disorder
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Strabismus / squint

Frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Hydrops fetalis
- Hypertonia / spasticity / rigidity / stiffness
- Psychic / psychomotor regression / dementia / intellectual decline
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Cardiac valvulopathy
- Repeat respiratory infections