ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
11 signs/symptoms

Gaucher disease - ophthalmoplegia - cardiovascular calcification

Encephalopathy due to prosaposin deficiency


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

Citations in the biomedical literature:

Gaucher disease - ophthalmoplegia - cardiovascular calcification		Encephalopathy due to prosaposin deficiency
	Synonym(s): - Cardiovascular Gaucher disease - Gaucher disease type 3C - Gaucher-like disease		Synonym(s): - Combined prosaposin deficiency

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic 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: childhood Average age of death: no data available 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 - No MeSH references


COMMON SIGNS	- Abnormal eye movements / oculomotor disorder - Autosomal recessive inheritance - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly

Gaucher disease - ophthalmoplegia - cardiovascular calcification		Encephalopathy due to prosaposin deficiency
	Very frequent - Aortic arches anomalies - Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis - Cardiac valvulopathy - Mitral valve atresia / stenosis / narrowing - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy Frequent - Hearing loss / hypoacusia / deafness - Hydrocephaly - Hypertonia / spasticity / rigidity / stiffness Occasional - Heart / cardiac failure		Very frequent - 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