FEL
MCID: HMP002
MIFTS: 62

Hemophagocytic Lymphohistiocytosis (FEL) malady

Immune, Blood, Genetic categories

Summaries for Hemophagocytic Lymphohistiocytosis

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Hemophagocytic lymphohistiocytosis (hlh) is a rare but potentially fatal condition in which certain white blood cells (histiocytes and lymphocytes) build up in organs including the skin, spleen, and liver, and destroy other blood cells. this causes fever and damages the liver and spleen, resulting in enlargement of these organs. hlh may be inherited or it may be caused by certain conditions or diseases including infections and immunodeficiency (inability of the body to fight infections). it most commonly affects young infants and children. treatment includes antibiotics or antiviral medications to treat or prevent infections, and chemotherapy and immunotherapy prior to allogeneic hematopoietic cell transplantation. last updated: 11/26/2012

MalaCards: Hemophagocytic Lymphohistiocytosis, also known as familial hemophagocytic lymphohistiocytosis, is related to arthritis and anaplastic large cell lymphoma. 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). The compounds chromium and phospholipid have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spleen and brain, and related mouse phenotypes are homeostasis/metabolism 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:64 Hemophagocytic lymphohistiocytosis (HLH), also known as hemophagocytic syndrome, is an uncommon... more...

Description from OMIM:47 608898,603552,613101,603553

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 31LifeMap Discovery™, 21Genetics Home Reference, 20GeneTests, 22GTR, 45Novoseek, 61UMLS, 47OMIM, 57SNOMED-CT, 40NCIt, 27ICD9CM, 35MeSH, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Immune, Blood


Aliases & Descriptions:

hemophagocytic lymphohistiocytosis 8 43 10 31
familial hemophagocytic lymphohistiocytosis 43 20 22 21 45
familial erythrophagocytic lymphohistiocytosis 43 21
hemophagocytic lymphohistiocytosis familial -1 43 20
familial hemophagocytic lymphocytosis 21 61
hemophagocytic syndrome 8 21
hemophagocytic lymphohistiocytosis, familial, 1 47
primary hemophagocytic hymphohistiocytosis 21
familial hemophagocytic histiocytosis 21
haemophagocytic lymphohistiocytosis 8
lymphohistiocytosis, hemophagocytic 61
familial hemophagocytic reticulosis 21
lymphohistiocytosis hemophagocytic 45
familial histiocytic reticulosis 43
haemophagocytic syndrome 8
hantavirus infections 61
hplh1 43
hplh 21
fhlh 21
fhl 21
fel 21
hps 8


External Ids:

Disease Ontology8 DOID:0050120
ICD9CM27 288.4
ICD1025 D76.1

Related Diseases for Hemophagocytic Lymphohistiocytosis

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hemophagocytic Lymphohistiocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 357)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis30.6GZMB
2anaplastic large cell lymphoma30.5GZMB, IL2RA
3pancytopenia30.4IL2RA
4systemic lupus erythematosus30.4IRF5
5autoimmune lymphoproliferative syndrome30.2SH2D1A, IL2RA
6agammaglobulinemia30.2SH2D1A
7chediak-higashi syndrome30.2RAB27A, SH2D1A, STX11, UNC13D
8griscelli syndrome type 229.9UNC13D, RAB27A
9hemophagocytic lymphohistiocytosis, familial11.1
10acute leukemia10.7
11hemophagocytic lymphohistiocytosis, familial, 410.7
12hematopoietic stem cell transplantation10.6
13hemophagocytic lymphohistiocytosis, familial, 310.6
14visceral leishmaniasis10.6
15kawasaki disease10.5
16hemophagocytic lymphohistiocytosis, familial, 210.5
17sepsis10.5
18malignant histiocytosis10.5
19n syndrome10.5
20familial hemophagocytic lymphohistiocytosis 510.5
21tuberculosis10.4
22hydrops fetalis10.4
23kikuchi disease10.4
24hypofibrinogenemia, familial10.4
25acute liver failure10.4
26chronic granulomatous disease10.4
27acute myeloid leukemia10.4
28juvenile myelomonocytic leukemia10.4
29autoimmune hemolytic anemia10.4
30t cell deficiency10.4
31t-cell leukemia10.4
32chronic active epstein-barr virus infection10.4
33griscelli syndrome10.4
34hepatitis a10.4
35hantavirus pulmonary syndrome10.3
36miliary tuberculosis10.3
37micro syndrome10.3
38juvenile xanthogranuloma10.3
39acute t cell leukemia10.3
40natural killer cell leukemia10.3
41infectious mononucleosis10.3
42adult lymphoma10.3
43scrub typhus10.3
44hermansky-pudlak syndrome10.3
45typhus10.3
46lysinuric protein intolerance10.3
47acute promyelocytic leukemia10.3
48hemorrhagic fever10.3
49septic shock10.3
50primary immunodeficiency disease10.3

Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis:



Diseases related to hemophagocytic lymphohistiocytosis

Clinical Features for Hemophagocytic Lymphohistiocytosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

608898,603552,613101,603553

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hemophagocytic Lymphohistiocytosis

Drug clinical trials:

Search ClinicalTrials for Hemophagocytic Lymphohistiocytosis

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis

Search CenterWatch for Hemophagocytic Lymphohistiocytosis

Cell-based therapeutics:


LifeMap Discovery
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:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Hemophagocytic Lymphohistiocytosis:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Hemophagocytic Lymphohistiocytosis

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hemophagocytic Lymphohistiocytosis:

id Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis20 22 UNC13D
2 Familial Hemophagocytic Lymphohistiocytosis 120

Anatomical Context for Hemophagocytic Lymphohistiocytosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:

33
Bone marrow, Spleen, Brain, Spinal cord, Small intestine, Colon, Kidney, Liver, Lung, Pancreas, Skin, Tonsil, Myeloid, Monocytes, Nk cells, T cells, B lymphoblasts, B cells, Fetal brain, Fetal liver, Fetal lung

Animal Models for Hemophagocytic Lymphohistiocytosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.1GZMB, IRF5, FHL1, ARF6, STX11, PRF1
2MP:00053979.9SMPD1, GZMB, TNFSF12, IRF5, UNC13D, ARF6
3MP:00053879.7STX11, UNC13D, IRF5, TNFSF12, GZMB, STXBP2

Publications for Hemophagocytic Lymphohistiocytosis

Sources:
51PubMed
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Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50)    (show all 522)
idTitleAuthorsYear
1
Unusual Clinical Presentations of Familial Hemophagocytic Lymphohistiocytosis Type-2. (24390453)
2014
2
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. (23973892)
2013
3
Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations. (23687090)
2013
4
Hemophagocytic lymphohistiocytosis: critical reappraisal of a potentially under-recognized condition. (24127015)
2013
5
GDF15-mediated upregulation of ferroportin plays a key role in the development of hyperferritinemia in children with hemophagocytic lymphohistiocytosis. (23335088)
2013
6
Report of a Fatal Pediatric Case of Hemophagocytic Lymphohistiocytosis Associated with Pandemic Influenza A (H1N1) Infection in 2009. (23602384)
2013
7
Hemophagocytic lymphohistiocytosis: an uncommon presentation of enteropathy-associated T-cell lymphoma. (23530098)
2013
8
Tuberculosis with Hemophagocytic Lymphohistiocytosis in an Infant. (23604610)
2013
9
Hemophagocytic lymphohistiocytosis masquerading as progressive chronic lymphocytic leukemia. (24371766)
2013
10
Fulminant hemophagocytic lymphohistiocytosis secondary to a reactivated EBV infection: a case report. (23398237)
2013
11
Enteric Fever presenting as secondary hemophagocytic lymphohistiocytosis. (22415495)
2012
12
Hemophagocytic lymphohistiocytosis with multiorgan involvement in children with chronic intestinal pseudo-obstruction receiving parenteral nutrition support. (21866056)
2012
13
Hemophagocytic lymphohistiocytosis: updates and evolving concepts. (22189397)
2012
14
Adult hemophagocytic lymphohistiocytosis with severe pulmonary hypertension and a novel perforin gene mutation. (22359105)
2012
15
Early-onset hemophagocytic lymphohistiocytosis after the start of chemotherapy for advanced neuroblastoma. (22304016)
2012
16
Serum ferritin is a cost-effective laboratory marker for hemophagocytic lymphohistiocytosis in the developing world. (22322940)
2012
17
Killer cell immunoglobulin-like receptor gene polymorphisms predispose susceptibility to Epstein-Barr virus associated hemophagocytic lymphohistiocytosis in Chinese children. (22376216)
2012
18
Reduced intensity conditioning allogeneic hematopoietic stem cell transplant could be beneficial to angioimmunoblastic T-cell lymphoma patients with hemophagocytic lymphohistiocytosis. (21894473)
2012
19
Hemophagocytic lymphohistiocytosis in a 19A year old critically ill patient. (23730021)
2012
20
Hemophagocytic Lymphohistiocytosis Induced by Severe Pandemic Influenza A (H1N1) 2009 Virus Infection: A Case Report. (21559246)
2011
21
Association of Crohn's disease, thiopurines, and primary epstein-barr virus infection with hemophagocytic lymphohistiocytosis. (21722918)
2011
22
Profile of hemophagocytic lymphohistiocytosis in children in a tertiary care hospital in India. (20972297)
2011
23
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. (21931115)
2011
24
Hemophagocytic lymphohistiocytosis associated with precursor B acute lymphoblastic leukemia. (21298755)
2011
25
Clinical characteristics of hemophagocytic lymphohistiocytosis related to Kawasaki disease. (21381871)
2011
26
Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis. (19967551)
2010
27
Pathology of the liver in familial hemophagocytic lymphohistiocytosis. (20442642)
2010
28
Primary Epstein-Barr virus infection associated with Kikuchi's disease and hemophagocytic lymphohistiocytosis: a case report and review of the literature. (21291855)
2010
29
Familial hemophagocytic lymphohistiocytosis in a 6-week-old male infant. (20698142)
2010
30
Preliminary clinical analysis of the hepatic dysfunction in patients with acquired hemophagocytic lymphohistiocytosis]. (19840483)
2009
31
Clinical aspects, immunologic assessment, and genetic analysis in Taiwanese children with hemophagocytic lymphohistiocytosis. (19057461)
2009
32
Pregnancy-induced hemophagocytic lymphohistiocytosis combined with autoimmune hemolytic anemia. (19299225)
2009
33
The role of hemophagocytosis in bone marrow aspirates in the diagnosis of hemophagocytic lymphohistiocytosis. (18061932)
2008
34
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. (18710388)
2008
35
Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis. (18607276)
2008
36
Aggressive natural killer cell leukemia presenting with hemophagocytic lymphohistiocytosis. (17853464)
2008
37
Kawasaki disease associated with reactive hemophagocytic lymphohistiocytosis. (18946363)
2008
38
Visceral leishmaniasis associated hemophagocytic lymphohistiocytosis--case report and systematic review. (18405976)
2008
39
Severe autoimmune hemolytic anemia after unrelated umbilical cord blood transplant for familial hemophagocytic lymphohistiocytosis: significant improvement after treatment with rituximab. (17279011)
2007
40
Hemophagocytic lymphohistiocytosis in a human immunodeficiency virus-positive homosexual high school student. (18045310)
2007
41
Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences. (15718147)
2005
42
An inframe perforin gene deletion in familial hemophagocytic lymphohistiocytosis is associated with perforin expression. (15609274)
2005
43
Longitudinal follow-up of patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. (15003893)
2004
44
Hemophagocytic lymphohistiocytosis (HLH). (15466126)
2004
45
An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder. (15069016)
2004
46
Human herpesvirus type 8-associated episodic multisystem illness in an HIV-infected patient in the absence of hemophagocytic lymphohistiocytosis. (15156456)
2004
47
Hemophagocytic lymphohistiocytosis presenting with nonimmune hydrops fetalis. (15224121)
2004
48
Familial hemophagocytic lymphohistiocytosis in two brothers. (15535343)
2004
49
Demyelinating peripheral neuropathy associated with hemophagocytic lymphohistiocytosis. An immuno-electron microscopic study. (15243760)
2004
50
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. (12229880)
2002

Genetic Variations for Hemophagocytic Lymphohistiocytosis

Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hemophagocytic Lymphohistiocytosis

Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis.

Pathways for genes affiliated with Hemophagocytic Lymphohistiocytosis

Sources:
38NCBI BioSystems Database, 53R&D Systems, 4Cell Signaling Technology, 12EMD Millipore, 30KEGG
See all sources

Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis

Sources:
45Novoseek, 24HMDB
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Compounds related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chromium4510.3PRF1, GNLY, GZMB
2phospholipid4510.2SMPD1, IL2RA, PRF1, ARF6
3tyrosine4510.2SMPD1, IL2RA, SH2D1A, ARF6, FHL2, IRF5
4mannose 6-phosphate45 2411.0GZMB, SRGN, SMPD1

GO Terms for genes affiliated with Hemophagocytic Lymphohistiocytosis

Sources:
16Gene Ontology
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Cellular components related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1exocytic vesicleGO:07038210.4RAB27A, UNC13D
2cytolytic granuleGO:04419410.1PRF1, STXBP2

Biological processes related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1natural killer cell degranulationGO:04332010.6RAB27A, UNC13D
2regulation of mast cell degranulationGO:04330410.5STXBP2, UNC13D
3cellular defense responseGO:00696810.4GNLY, PRF1, SH2D1A
4positive regulation of exocytosisGO:04592110.4RAB27A, UNC13D
5defense response to virusGO:05160710.4PRF1, UNC13D, IRF5
6apoptotic processGO:00691510.2GZMB, TNFSF12, ARF6, PRF1, IL2RA
7cytolysisGO:01983510.1PRF1, GZMB

Molecular functions related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055159.9SMPD1, GZMB, TNFSF12, IRF5, FHL1, FHL2

Products for genes affiliated with Hemophagocytic Lymphohistiocytosis

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Sources for Hemophagocytic Lymphohistiocytosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet