Hemophagocytic Lymphohistiocytosis (FEL) malady
Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Neuronal diseases categories
|Download this MalaCard|
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 65Wikipedia, 46OMIM, 32MalaCards
See all sources
Fully expand this MalaCard
NIH Rare Diseases:42 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┬áwhich 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.┬átypes 2-5 are┬ácaused by mutations in the prf1┬ágene, the unc13d gene, the stx11 gene and the stxbp2 gene, respectively. treatment depends on a number of factors, including┬áthe severity of symptoms, the┬áage 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 griscelli syndrome type 2 and chediak-higashi syndrome. An important gene associated with Hemophagocytic Lymphohistiocytosis is UNC13D (unc-13 homolog D (C. elegans)), 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, spleen and t cells, and related mouse phenotypes are immune system and hematopoietic system.
Disease Ontology:8 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:21 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:65 Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British... more...
Descriptions from OMIM:46 267700,603553,613101,608898,603552
Hemophagocytic Lymphohistiocytosis, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases, Neuronal diseases
Drug clinical trials:
Search ClinicalTrials for Hemophagocytic Lymphohistiocytosis
Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis
The database of embryonic development, stem cell research and regenerative medicine
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:32
Liver, Spleen, T cells, B cells, Monocytes, Bone marrow, Bone, Kidney, Skin, Myeloid, Nk cells, Brain, Lung, Spinal cord, Colon, Pancreas, Tonsil, Neutrophil
Articles related to Hemophagocytic Lymphohistiocytosis:(show top 50) (show all 562)
Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis.
Pathways related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:
Cellular components related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:
Biological processes related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:(show all 7)
Molecular functions related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet