ODCs

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1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1

2 associated genes
No signs/symptoms info

Encephalopathy due to prosaposin deficiency

Hereditary site-specific ovarian cancer syndrome

PSAP	(UniProt - OMIM)		BRCA1	(UniProt - OMIM)
			BRCA2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PSAP	(0.77)	BRCA1

Citations in the biomedical literature:

Encephalopathy due to prosaposin deficiency		Hereditary site-specific ovarian cancer syndrome
	Synonym(s): - Combined prosaposin deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare gynecologic or obstetric disease - Rare oncologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Neoplasms -

	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: - Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

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

Encephalopathy due to prosaposin deficiency
	Very frequent - Abnormal eye movements / oculomotor disorder - Autosomal recessive inheritance - Death in infancy - Dystonia / torticollis / writer's cramp / blepharospasms - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotonia - Myoclonus / fasciculations - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly
Hereditary site-specific ovarian cancer syndrome
(no data available)