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References OMIM Gene GeneReviews HGMD HGNC
last update : 10/07/2006
Symbol HPLH4
Location 6q24
Name hemophagocytic lymphohistiocytosis, familial, 4
Corresponding gene STX11
Other symbol(s) FHL4, HLH4
Main clinical features
  • characterized by hyperactivation and proliferation of T cells and macrophages, fever, hepatosplenomegaly, cytopenia, coagulation defect, liver dysfunction, and defect in natural killer cell function
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name syntaxin 11
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function