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Gaucher disease type 1

1 OMIM reference -
2 associated genes
35 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 22

Gaucher disease type 3

1 OMIM reference -
1 associated gene
34 signs/symptoms

Gaucher disease type 1

Gaucher disease type 3

GBA	(UniProt - OMIM)		GBA	(UniProt - OMIM)
SCARB2	(UniProt - OMIM)


COMMON GENES	GBA

Citations in the biomedical literature:

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