ODCs

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1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
12 signs/symptoms

Encephalopathy due to prosaposin deficiency

Pierson syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PSAP	(0.63)	LAMB2

Citations in the biomedical literature:

Encephalopathy due to prosaposin deficiency		Pierson syndrome
	Synonym(s): - Combined prosaposin deficiency		Synonym(s): - Microcoria - congenital nephrosis

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the genitourinary system -

	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: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537185


COMMON SIGNS	- Autosomal recessive inheritance - Hypotonia

Encephalopathy due to prosaposin deficiency		Pierson syndrome
	Very frequent - Abnormal eye movements / oculomotor disorder - Death in infancy - Dystonia / torticollis / writer's cramp / blepharospasms - Hepatomegaly / liver enlargement (excluding storage disease) - Myoclonus / fasciculations - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly		Very frequent - Cataract / lens opacification - Chronic arterial hypertension - EEG anomalies - Hematuria / microhematuria - Hemiplegia / diplegia / hemiparesia / limb palsy - Movement disorder - Nephrotic syndrome - Nystagmus - Proteinuria Frequent - Micropenis / small penis / agenesis