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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 Camsap3 calmodulin regulated spectrin-associated protein family, member 3 JBrowse link 12 2,133,935 2,157,403 RGD:8554872
G Ccl25 C-C motif chemokine ligand 25 JBrowse link 12 2,429,492 2,438,928 RGD:8554872
G Cd209 CD209 molecule JBrowse link 12 2,406,879 2,413,324 RGD:8554872
G Cd320 CD320 molecule JBrowse link 7 18,700,445 18,706,244 RGD:8554872
G Cers4 ceramide synthase 4 JBrowse link 12 4,439,750 4,474,759 RGD:8554872
G Clec4g C-type lectin domain family 4, member G JBrowse link 12 2,273,649 2,278,594 RGD:8554872
G Clec4m C-type lectin domain family 4 member M JBrowse link 12 2,817,633 2,826,303 RGD:8554872
G Ctxn1 cortexin 1 JBrowse link 12 2,534,212 2,535,823 RGD:8554872
G Elavl1 ELAV like RNA binding protein 1 JBrowse link 12 2,461,502 2,502,432 RGD:8554872
G Evi5l ecotropic viral integration site 5-like JBrowse link 12 2,588,066 2,626,336 RGD:8554872
G Fcer2 Fc fragment of IgE receptor II JBrowse link 12 2,233,772 2,245,324 RGD:8554872
G Lrrc8e leucine rich repeat containing 8 VRAC subunit E JBrowse link 12 2,557,267 2,568,416 RGD:8554872
G Map2k7 mitogen activated protein kinase kinase 7 JBrowse link 12 2,546,278 2,555,310 RGD:8554872
G Mcemp1 mast cell-expressed membrane protein 1 JBrowse link 12 2,211,970 2,217,005 RGD:8554872
G Mcoln1 mucolipin 1 JBrowse link 12 2,054,629 2,068,682 RGD:8554872
G Pcp2 Purkinje cell protein 2 JBrowse link 12 2,172,378 2,174,674 RGD:8554872
G Pet100 PET100 cytochrome c oxidase chaperone JBrowse link 12 2,170,630 2,173,259 RGD:8554872
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
G Retn resistin JBrowse link 12 2,201,909 2,203,649 RGD:8554872
G Snapc2 small nuclear RNA activating complex, polypeptide 2 JBrowse link 12 2,537,291 2,540,774 RGD:8554872
G Stxbp2 syntaxin binding protein 2 JBrowse link 12 2,180,101 2,191,863 RGD:7240710
RGD:8554872
G Tgfbr3l transforming growth factor beta receptor 3 like JBrowse link 12 2,540,494 2,545,315 RGD:8554872
G Timm44 translocase of inner mitochondrial membrane 44 JBrowse link 12 2,517,006 2,533,707 RGD:8554872
G Trappc5 trafficking protein particle complex 5 JBrowse link 12 2,228,670 2,232,973 RGD:8554872
G Xab2 XPA binding protein 2 JBrowse link 12 2,158,391 2,170,397 RGD:8554872

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  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          Familial Hemophagocytic Lymphohistiocytoses 29
            familial hemophagocytic lymphohistiocytosis 1 0
            familial hemophagocytic lymphohistiocytosis 2 2
            familial hemophagocytic lymphohistiocytosis 3 1
            familial hemophagocytic lymphohistiocytosis 4 1
            familial hemophagocytic lymphohistiocytosis 5 25
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      Immune & Inflammatory Diseases 3408
        immune system disease 2797
          lymphatic system disease 1079
            histiocytosis 55
              non-Langerhans-cell histiocytosis 48
                hemophagocytic lymphohistiocytosis 35
                  Familial Hemophagocytic Lymphohistiocytoses 29
                    familial hemophagocytic lymphohistiocytosis 1 0
                    familial hemophagocytic lymphohistiocytosis 2 2
                    familial hemophagocytic lymphohistiocytosis 3 1
                    familial hemophagocytic lymphohistiocytosis 4 1
                    familial hemophagocytic lymphohistiocytosis 5 25
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.