ODCs

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1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

1 OMIM reference -
1 associated gene
15 signs/symptoms

Encephalopathy due to prosaposin deficiency

Gaucher disease type 2


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

Citations in the biomedical literature:

Encephalopathy due to prosaposin deficiency		Gaucher disease type 2
	Synonym(s): - Combined prosaposin deficiency		Synonym(s): - Acute neuronopathic Gaucher disease - Infantile cerebral Gaucher disease

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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	- Abnormal eye movements / oculomotor disorder - Hepatomegaly / liver enlargement (excluding storage disease) - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly

Encephalopathy due to prosaposin deficiency		Gaucher disease type 2
	Very frequent - Autosomal recessive inheritance - Death in infancy - Dystonia / torticollis / writer's cramp / blepharospasms - Hypotonia - Myoclonus / fasciculations		Very frequent - Early death / lethality - Hypertonia / spasticity / rigidity / stiffness - 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 Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest