Gaucher disease due to saposin C deficiency (MONDO_0012517) is any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene. Also known as: Gaucher disease caused by mutation in PSAP, PSAP Gaucher disease, atypical Gaucher disease due to saposin C deficiency, atypical Gaucher's disease due to saposin c deficiency.