PSAP-related sphingolipidosis
MONDO:0100517Mondo
Findings
No curated finding names PSAP-related sphingolipidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.
Definition from the Mondo Disease Ontology (MONDO:0100517), read 2026-09-29. CC BY 4.0.
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 · Natera · Autosomal recessive · 2023
Where it sits
- A kind of