Summary

A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

All SNPs

Disease Hierarchy

Disease Interacts with Genes

Disease Interacts with Substances

Processes Associated With Trait

Pathways Associated With Trait

Symptoms Associated With Trait