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Fetal Gaucher disease

1 OMIM reference -
1 associated gene
16 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

Gaucher disease type 2

1 OMIM reference -
1 associated gene
15 signs/symptoms

Fetal Gaucher disease

Gaucher disease type 2

GBA

(UniProt - OMIM)

GBA

(UniProt - OMIM)


COMMON GENES	GBA

Citations in the biomedical literature:

Fetal Gaucher disease		Gaucher disease type 2
	Synonym(s): - Perinatal lethal Gaucher disease		Synonym(s): - Acute neuronopathic Gaucher disease - Infantile cerebral Gaucher disease

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - 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: neonatal/infancy Average age of death: before age 5 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) - Hypertonia / spasticity / rigidity / stiffness - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly

Fetal Gaucher disease		Gaucher disease type 2
	Very frequent - Death in infancy - Hydrops fetalis - Ichthyosis / ichthyosiform dermatitis - Intracranial / cerebral / meningeal hemorrhage - Stillbirth / neonatal death - Thrombocytopenia / thrombopenia 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 - Early death / lethality - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Respiratory rhythm disorder - Strabismus / squint - Weight loss / loss of appetite / break in weight curve / general health alteration Frequent - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Cough - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest