ODCs

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1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
11 signs/symptoms

Fetal Gaucher disease

Encephalopathy due to prosaposin deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GBA	(0.63)	PSAP

Citations in the biomedical literature:

Fetal Gaucher disease		Encephalopathy due to prosaposin deficiency
	Synonym(s): - Perinatal lethal Gaucher disease		Synonym(s): - Combined prosaposin deficiency

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic 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: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Death in infancy - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotonia - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly

Fetal Gaucher disease		Encephalopathy due to prosaposin deficiency
	Very frequent - 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 - Hypertonia / spasticity / rigidity / stiffness - Low set ears / posteriorly rotated ears - Structural and functional anomalies of the spleen		Very frequent - Abnormal eye movements / oculomotor disorder - Autosomal recessive inheritance - Dystonia / torticollis / writer's cramp / blepharospasms - Myoclonus / fasciculations - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction