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.
Inga svenska synonymer finns.
Histiocyte Syndrome, Sea-Blue — Histiocyte Syndromes, Sea-Blue — Sea Blue Histiocyte Syndrome — Sea-Blue Histiocyte Syndromes — Syndrome, Sea-Blue Histiocyte — Syndromes, Sea-Blue Histiocyte — Histiocytosis, Sea-Blue — Histiocytoses, Sea-Blue — Histiocytosis, Sea Blue — Sea-Blue Histiocytoses — Histiocyte Syndrome, Sea Blue — Sea-Blue Histiocytosis — Sea-Blue Histiocyte Disease — Disease, Sea-Blue Histiocyte — Diseases, Sea-Blue Histiocyte — Histiocyte Disease, Sea-Blue — Histiocyte Diseases, Sea-Blue — Sea Blue Histiocyte Disease — Sea-Blue Histiocyte Diseases — Sea Blue Histiocytosis — Histiocytoses, Sea Blue — Sea Blue Histiocytoses — Histiocyte Syndromes, Sea Blue