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ONTOLOGY REPORT - ANNOTATIONS


Term:Familial Hemophagocytic Lymphohistiocytoses
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Accession:DOID:9004404 term browser browse the term
Definition:Hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder, is characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained. Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation. (OMIM)
Synonyms:exact_synonym: FEL;   FHL;   FHLH;   Familial Hemophagocytic Reticuloses;   Familial Hemophagocytic Reticulosis;   Familial Histiocytic Reticuloses;   familial erythrophagocytic lymphohistiocytoses;   familial erythrophagocytic lymphohistiocytosis;   familial hemophagocytic histiocytoses;   familial hemophagocytic histiocytosis;   familial hemophagocytic lymphohistiocytosis;   familial histiocytic reticulosis
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Familial Hemophagocytic Lymphohistiocytoses term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:8554872
G Stx11 syntaxin 11 JBrowse link 1 7,039,160 7,064,870 RGD:8554872
G Stxbp2 syntaxin binding protein 2 JBrowse link 12 2,180,101 2,191,863 RGD:8554872
G Unc13d unc-13 homolog D JBrowse link 10 104,613,907 104,628,664 RGD:8554872
familial hemophagocytic lymphohistiocytosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lifr LIF receptor subunit alpha JBrowse link 2 56,424,910 56,489,346 RGD:8554872
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:6482809
RGD:8554872
RGD:7240710
familial hemophagocytic lymphohistiocytosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Unc13d unc-13 homolog D JBrowse link 10 104,613,907 104,628,664 RGD:1600451
RGD:8554872
RGD:7240710
familial hemophagocytic lymphohistiocytosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stx11 syntaxin 11 JBrowse link 1 7,039,160 7,064,870 RGD:7240710
RGD:8554872
familial hemophagocytic lymphohistiocytosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stxbp2 syntaxin binding protein 2 JBrowse link 12 2,180,101 2,191,863 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          Familial Hemophagocytic Lymphohistiocytoses 5
            familial hemophagocytic lymphohistiocytosis 1 0
            familial hemophagocytic lymphohistiocytosis 2 2
            familial hemophagocytic lymphohistiocytosis 3 1
            familial hemophagocytic lymphohistiocytosis 4 1
            familial hemophagocytic lymphohistiocytosis 5 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Immune & Inflammatory Diseases 3092
        immune system disease 2518
          lymphatic system disease 874
            histiocytosis 27
              non-Langerhans-cell histiocytosis 26
                hemophagocytic lymphohistiocytosis 15
                  Familial Hemophagocytic Lymphohistiocytoses 5
                    familial hemophagocytic lymphohistiocytosis 1 0
                    familial hemophagocytic lymphohistiocytosis 2 2
                    familial hemophagocytic lymphohistiocytosis 3 1
                    familial hemophagocytic lymphohistiocytosis 4 1
                    familial hemophagocytic lymphohistiocytosis 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.