combined PSAP deficiency
Findings
No curated finding names combined PSAP deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.
Definition from the Mondo Disease Ontology (MONDO:0012719), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal onset
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HepatomegalyHPOHP:0002240
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Hyperkinetic movementsHPOHP:0002487
- 2 of 2 reported patients
- MyoclonusHPOHP:0001336
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Abnormality of eye movementHPOHP:0000496
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PSAPHGNC:9498
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: combined PSAP deficiency
- Also called
- combined prosaposin deficiencyencephalopathy due to prosaposin deficiency