Gaucher disease due to saposin C deficiency
Findings
No curated finding names Gaucher disease due to saposin C deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.
Definition from the Mondo Disease Ontology (MONDO:0012517), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
35 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.
- Abducens palsyHPOHP:0006897
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 1 reported patient
- Bone painHPOHP:0002653
- 2 of 2 reported patients
- Chronic fatigueHPOHP:0012432
- 2 of 2 reported patients
- Clonic seizureHPOHP:0020221
- 1 of 1 reported patient
- Developmental regressionHPO
Show the remaining 23
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 3 of 3 reported patients
- Status epilepticusHPOHP:0002133
- 1 of 1 reported patient
- Supranuclear gaze palsyHPOHP:0000605
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- HepatosplenomegalyHPOHP:0001433
- 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
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: Gaucher disease due to saposin C deficiency
- Also called
- atypical Gaucher disease due to saposin C deficiencyatypical Gaucher's disease due to saposin c deficiencyGaucher disease caused by mutation in PSAPPSAP Gaucher disease