ODCs

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Gaucher disease type 3

1 OMIM reference -
1 associated gene
34 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Encephalopathy due to prosaposin deficiency

1 OMIM reference -
1 associated gene
11 signs/symptoms

Gaucher disease type 3

Encephalopathy due to prosaposin deficiency

GBA

(UniProt - OMIM)

PSAP

(UniProt - OMIM)


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

Citations in the biomedical literature:

Gaucher disease type 3		Encephalopathy due to prosaposin deficiency
	Synonym(s): - Cerebral juvenile and adult form of Gaucher disease - Chronic neuronopathic Gaucher disease - Gaucher disease, subacute neuronopathic type		Synonym(s): - Combined prosaposin deficiency

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare respiratory 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: variable 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 - No MeSH references


COMMON SIGNS	- Abnormal eye movements / oculomotor disorder - Hepatomegaly / liver enlargement (excluding storage disease) - Repeat respiratory infections - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly

Gaucher disease type 3		Encephalopathy due to prosaposin deficiency
	Very frequent - Asthenia / fatigue / weakness - Bone pain - Mutiple fractures / bone fragility - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Osteolysis / osteoclasia / bone destruction / erosions - Osteonecrosis / bone infarction - Osteosclerosis / osteopetrosis / bone condensation - Strabismus / squint Frequent - Abnormal gait - Anaemia - Ataxia / incoordination / trouble of the equilibrium - Bone marrow failure / pancytopenia - Delayed bone age - Failure to thrive / difficulties for feeding in infancy / growth delay - Hydrops fetalis - Hypergammaglobulinemia - Hypertonia / spasticity / rigidity / stiffness - Leukopenia / hypoleukocytosis - Monoclonal immunoglobulins / gammapathy / dysglobulinemia - Psychic / psychomotor regression / dementia / intellectual decline - Thrombocytopenia / thrombopenia Occasional - Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis - Cardiac valvulopathy - Hematuria / microhematuria - Interstitial / restrictive pneumopathy / restrictive respiratory syndrome - Myocardium anomalies / myocarditis - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion - Proteinuria - Pulmonary hypertension		Very frequent - Autosomal recessive inheritance - Death in infancy - Dystonia / torticollis / writer's cramp / blepharospasms - Hypotonia - Myoclonus / fasciculations - Respiratory distress / dyspnea / respiratory failure / lung volume reduction