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Fetal Gaucher disease

1 OMIM reference -
1 associated gene
16 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Gaucher disease type 3

1 OMIM reference -
1 associated gene
34 signs/symptoms

Fetal Gaucher disease

Gaucher disease type 3

GBA

(UniProt - OMIM)

GBA

(UniProt - OMIM)


COMMON GENES	GBA

Citations in the biomedical literature:

Fetal Gaucher disease		Gaucher disease type 3
	Synonym(s): - Perinatal lethal 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 genetic disease - Rare skin 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: (no data available)		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	- Hepatomegaly / liver enlargement (excluding storage disease) - Hydrops fetalis - Hypertonia / spasticity / rigidity / stiffness - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly - Thrombocytopenia / thrombopenia

Fetal Gaucher disease		Gaucher disease type 3
	Very frequent - Death in infancy - Ichthyosis / ichthyosiform dermatitis - Intracranial / cerebral / meningeal hemorrhage - Stillbirth / neonatal death Frequent - Depressed nasal bridge - Ectropion / entropion / eyelid eversion - High vaulted / narrow palate - Hypotonia - Low set ears / posteriorly rotated ears - Structural and functional anomalies of the spleen		Very frequent - Abnormal eye movements / oculomotor disorder - Asthenia / fatigue / weakness - Bone pain - Mutiple fractures / bone fragility - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Osteolysis / osteoclasia / bone destruction / erosions - Osteonecrosis / bone infarction - Osteosclerosis / osteopetrosis / bone condensation - 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 - Hypergammaglobulinemia - Leukopenia / hypoleukocytosis - Monoclonal immunoglobulins / gammapathy / dysglobulinemia - Psychic / psychomotor regression / dementia / intellectual decline 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