UNC13D Gene
STX11 Gene
STXBP2 Gene
CTRP Terminology
CTRP Disease Terminology
Cellosaurus Disease Terminology
Cellosaurus Terminology
Hemophagocytic Lymphohistiocytosis
Familial Hemophagocytic Lymphohistiocytosis
A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11 genes. It is characterized by histiocytic proliferation and phagocytosis. Patients present with fever, lymphadenopathy, and hepatosplenomegaly.
C0272199
C61276
CTRP
Cellosaurus
Disease or Syndrome
Familial Hemophagocytic Lymphohistiocytosis
Familial Hemophagocytic Lymphohistiocytosis
Familiar_Hemophagocytic_Lymphohistiocytosis
Primary Hemophagocytic Lymphohistiocytosis
Primary Hemophagocytic Lymphohistiocytosis
PRF1 Gene