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atypical Gaucher disease due to saposin C deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
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
GARD:0012503: 
MESH:C566435: 
Orphanet:309252: 
UMLS:C1864651: