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Encephalopathy due to prosaposin deficiency

1 OMIM reference -
1 associated gene
39 connected diseases
11 signs/symptoms

Disease	Type of connection
Atypical Gaucher disease due to saposin C deficiency
Infantile Krabbe disease
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Young adult-onset Parkinsonism
CLN10 disease
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Laron syndrome
Primary peritoneal carcinoma
Short stature due to partial GHR deficiency
Heritable pulmonary arterial hypertension
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Angelman syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2C
Familial isolated dilated cardiomyopathy
Fetal Gaucher disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
LAMB-2-related infantile-onset nephrotic syndrome
Muscular dystrophy, Selcen type
Pierson syndrome
Synaptic congenital myasthenic syndromes
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 4A
Parkinsonian-pyramidal syndrome

Synonym(s): - Combined prosaposin deficiency

Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

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

Gene symbol	UniProt reference	OMIM reference
PSAP	P07602	176801

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