Hemophagocytic Lymphohistiocytosis malady
Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Neuronal diseases
Aliases & Descriptions for Hemophagocytic Lymphohistiocytosis:
Orphanet epidemiological data:51
familial hemophagocytic lymphohistiocytosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Adolescent,Infancy
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases, Neuronal diseases
ICD10: 28 27
NIH Rare Diseases:45 Hemophagocytic lymphohistiocytosis (hlh) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). people with hlh usually develop symptoms within the first months or years of life which may include fever, enlarged liver or spleen, cytopenia (lower-than-normal number of blood cells), and neurological abnormalities. hlh may be inherited in an autosomal recessive manner or it can have non-genetic causes in which case it is called acquired hlh. there are five subtypes of inherited hlh which are designated familial hlh, types 1-5. each subtype is caused by a change (mutation) in a different gene. the genetic cause of type 1 is currently unknown. types 2-5 are caused by mutations in the prf1 gene, the unc13d gene, the stx11 gene and the stxbp2 gene, respectively. treatment depends on a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. last updated: 11/9/2014
MalaCards based summary: Hemophagocytic Lymphohistiocytosis, also known as familial hemophagocytic lymphohistiocytosis, is related to hepatitis and hemophagocytic lymphohistiocytosis, familial, 4. An important gene associated with Hemophagocytic Lymphohistiocytosis is UNC13D (Unc-13 Homolog D), and among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). Affiliated tissues include liver, t cells and spleen, and related mouse phenotypes are immune system and hematopoietic system.
Disease Ontology:10 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.
Genetics Home Reference:23 Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs.
Wikipedia:68 Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British... more...
Drugs for Hemophagocytic Lymphohistiocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 107)
Interventional clinical trials:(show all 37)
Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hemophagocytic Lymphohistiocytosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hemophagocytic Lymphohistiocytosis:
Embryonic/Adult Cultured Cells Related to Hemophagocytic Lymphohistiocytosis:
MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:33
Liver, T cells, Spleen, Monocytes, B cells, Breast, Skin
Articles related to Hemophagocytic Lymphohistiocytosis:(show top 50) (show all 632)
Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis.
Pathways related to Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:(show all 14)
Biological processes related to Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet