hemophagocytic lymphohistiocytosis Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. (Human Disease Ontology, DOID_0050120)
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Genes

4 genes involed in the disease hemophagocytic lymphohistiocytosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
PRF1 perforin 1 (pore forming protein)
STX11 syntaxin 11
STXBP2 syntaxin binding protein 2
UNC13D unc-13 homolog D (C. elegans)