ODCs

Cytoscape Web

Click node...

Encephalopathy due to prosaposin deficiency

1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1

Primary peritoneal carcinoma

1 associated gene
9 signs/symptoms

Encephalopathy due to prosaposin deficiency

Primary peritoneal carcinoma

(UniProt - OMIM)

(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		Primary peritoneal carcinoma
	Synonym(s): - Combined prosaposin deficiency		Synonym(s): - EOPPC - Extra-ovarian primary peritoneal carcinoma - PPC - Primary peritoneal serous carcinoma - Serous surface papillary carcinoma

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare abdominal surgical 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: unknown Average age onset: adulthood Average age of death: normal Type of inheritance: unknown

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

Encephalopathy due to prosaposin deficiency		Primary peritoneal carcinoma
	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		Very frequent - Acute abdominal pain / colic - Anomalies of the abdominal wall - Constipation - Nausea / vomiting / regurgitation / merycism / hyperemesis - Neoplasms / tumors - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Peritoneal diseases - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Early death / lethality