ODCs

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1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
5 associated genes
21 signs/symptoms

Encephalopathy due to prosaposin deficiency

Angelman syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PSAP	(0.63)	UBE3A

Citations in the biomedical literature:

Encephalopathy due to prosaposin deficiency		Angelman syndrome
	Synonym(s): - Combined prosaposin deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): (no data available)

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D017204


COMMON SIGNS	- Hypotonia - Seizures / epilepsy / absences / spasms / status epilepticus

Encephalopathy due to prosaposin deficiency		Angelman syndrome
	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) - Myoclonus / fasciculations - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Splenomegaly		Very frequent - Anomalies of eyes and vision - Ataxia / incoordination / trouble of the equilibrium - Brachycephaly / flat occiput - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Face / facial anomalies - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Macroglossia / tongue protrusion / proeminent / hypertrophic - Microcephaly - Prognathism / prognathia - Psychic / behavioural troubles - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Depressed premaxillary region / midface - Hypereflexia - Macrostomia / big mouth Occasional - Inguinal / inguinoscrotal / crural hernia - Strabismus / squint