Mondo Description Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.
Uniprot Description A disease characterized by marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease. Gaucher disease is a lysosomal storage disorder characterized by skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Mondo Term and Equivalent IDs
MONDO:0012517: atypical Gaucher disease due to saposin C deficiency