FEL
MCID: HMP002
MIFTS: 66

Hemophagocytic Lymphohistiocytosis (FEL) malady

Immune diseases, Blood diseases, Genetic diseases categories

Summaries for Hemophagocytic Lymphohistiocytosis

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 liver, spleen and t cells, 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:63 Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British... more...

Description from OMIM:46 608898,603552,613101,603553

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 30LifeMap Discovery™, 21Genetics Home Reference, 20GeneTests, 22GTR, 44Novoseek, 60UMLS, 46OMIM, 56SNOMED-CT, 39NCIt, 27ICD9CM, 34MeSH, 25ICD10
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Classifications:

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


Aliases & Descriptions:

hemophagocytic lymphohistiocytosis 8 42 10 30
familial hemophagocytic lymphohistiocytosis 42 20 22 21 44
familial erythrophagocytic lymphohistiocytosis 42 21
hemophagocytic lymphohistiocytosis familial -1 42 20
familial hemophagocytic lymphocytosis 21 60
hemophagocytic syndrome 8 21
hemophagocytic lymphohistiocytosis, familial, 1 46
primary hemophagocytic hymphohistiocytosis 21
familial hemophagocytic histiocytosis 21
haemophagocytic lymphohistiocytosis 8
lymphohistiocytosis, hemophagocytic 60
familial hemophagocytic reticulosis 21
lymphohistiocytosis hemophagocytic 44
familial histiocytic reticulosis 42
haemophagocytic syndrome 8
hantavirus infections 60
hplh1 42
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

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17GeneCards, 18GeneDecks
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Diseases in the Hemophagocytic Lymphohistiocytosis family:

Hemophagocytic Lymphohistiocytosis, Familial Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytic Lymphohistiocytosis, Familial, 3 Hemophagocytic Lymphohistiocytosis, Familial, 4
Familial Hemophagocytic Lymphohistiocytosis 5

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

(show top 50)    (show all 422)
idRelated DiseaseScoreTop Affiliating Genes
1arthritis30.6GZMB
2anaplastic large cell lymphoma30.5GZMB, IL2RA
3pancytopenia30.4IL2RA
4systemic lupus erythematosus30.3IRF5
5hepatitis30.3GZMB
6hodgkin's lymphoma30.2IL2RA, SH2D1A, GZMB
7autoimmune lymphoproliferative syndrome30.1SH2D1A, IL2RA
8agammaglobulinemia30.1SH2D1A
9chediak-higashi syndrome30.1RAB27A, SH2D1A, STX11, UNC13D
10diabetes mellitus30.1GK
11griscelli syndrome type 229.8UNC13D, RAB27A
12multiple sclerosis29.6IL2RA
13hemophagocytic lymphohistiocytosis, familial11.1
14leukemia10.8
15acute leukemia10.7
16hemophagocytic lymphohistiocytosis, familial, 410.7
17lymphoblastic leukemia10.6
18visceral leishmaniasis10.5
19leishmaniasis10.5
20hemophagocytic lymphohistiocytosis, familial, 310.5
21kawasaki disease10.5
22influenza10.5
23x-linked disease10.5
24hemophagocytic lymphohistiocytosis, familial, 210.5
25malignant histiocytosis10.5
26lymphoproliferative disease, x-linked10.5
27familial hemophagocytic lymphohistiocytosis 510.5
28chronic lymphocytic leukemia10.4
29pneumonia10.4
30tuberculosis10.4
31acute liver failure10.3
32crohn's disease10.3
33chronic granulomatous disease10.3
34acute myeloid leukemia10.3
35juvenile myelomonocytic leukemia10.3
36autoimmune hemolytic anemia10.3
37dermatomyositis10.3
38hemolytic anemia10.3
39herpes simplex10.3
40myelofibrosis10.3
41myeloid leukemia10.3
42panniculitis10.3
43hantavirus pulmonary syndrome10.3
44miliary tuberculosis10.3
45natural killer cell leukemia10.3
46infectious mononucleosis10.3
47adult lymphoma10.3
48scrub typhus10.3
49hermansky-pudlak syndrome10.3
50disseminated intravascular coagulation10.3

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



Diseases related to hemophagocytic lymphohistiocytosis

Clinical Features for Hemophagocytic Lymphohistiocytosis

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46OMIM
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Clinical features from OMIM:

608898,603552,613101,603553

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:

32
Liver, Spleen, T cells, B cells, Skin, Monocytes, Bone marrow, Bone, Myeloid, Nk cells, Brain, Kidney, Tonsil, Spinal cord, Pancreas, Colon, Lung

Animal Models for Hemophagocytic Lymphohistiocytosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

36
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

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50PubMed
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Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50)    (show all 521)
idTitleAuthorsYear
1
Spectrum of imaging appearances in Australian children with central nervous system hemophagocytic lymphohistiocytosis. (24119957)
2014
2
Use of Recombinant Thrombomodulin in Disseminated Intravascular Coagulation Complicated Hemophagocytic Lymphohistiocytosis. (23912823)
2013
3
H1N1 Infection-Related Hemophagocytic Lymphohistiocytosis in a Child. (24385840)
2013
4
Evaluation of the plasma micro RNA expression levels in secondary hemophagocytic lymphohistiocytosis. (24363881)
2013
5
Hemophagocytic lymphohistiocytosis (HLH): a review of literature. (24105023)
2013
6
Hemophagocytic lymphohistiocytosis after allogeneic bone marrow transplantation during chronic norovirus infection. (23922241)
2013
7
Clinical implication of F-18 FDG PET/CT in patients with secondary hemophagocytic lymphohistiocytosis. (24061788)
2013
8
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea. (23180437)
2013
9
Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis. (24101757)
2013
10
Evaluation of the role of secretory sphingomyelinase and bioactive sphingolipids as biomarkers in hemophagocytic lymphohistiocytosis. (23828274)
2013
11
Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease. (23190531)
2013
12
Diffuse large B-cell lymphoma in an adolescent female presenting with Epstein-Barr virus-driven hemophagocytic lymphohistiocytosis: a case report. (22657725)
2012
13
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). (22451424)
2012
14
Lymphoma-associated hemophagocytic lymphohistiocytosis. (23030014)
2012
15
A case of hemophagocytic lymphohistiocytosis in a patient with chronic lymphocytic leukemia after treatment with fludarabine, cyclophosphamide, and rituximab chemotherapy, with autopsy findings. (23533846)
2012
16
Protection from inflammatory organ damage in a murine model of hemophagocytic lymphohistiocytosis using treatment with IL-18 binding protein. (22891066)
2012
17
Presentation of hemophagocytic lymphohistiocytosis due to a novel MUNC 13-4 mutation masked by partial therapeutic immunosuppression. (22554126)
2012
18
Hemophagocytic lymphohistiocytosis following differentiation syndrome in acute promyelocytic leukemia. (21657955)
2011
19
Rate of decline of ferritin in patients with hemophagocytic lymphohistiocytosis as a prognostic variable for mortality. (20842751)
2011
20
A665G mutation in PRF1 in a Turkish infant with familial hemophagocytic lymphohistiocytosis. (21157897)
2011
21
Acute respiratory distress syndrome as an initial presentation of hemophagocytic lymphohistiocytosis after induction therapy for acute myeloid leukemia. (21083362)
2011
22
Myelodysplastic syndrome (MDS) as a late stage of subclinical hemophagocytic lymphohistiocytosis (HLH): a putative role for Leptospira infection. A hypothesis. (20870590)
2010
23
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. (20015888)
2010
24
Chronic murine typhoid fever is a natural model of secondary hemophagocytic lymphohistiocytosis. (20195482)
2010
25
Fatal hemophagocytic lymphohistiocytosis in an extremely-low-birthweight infant. (20958877)
2010
26
Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation. (20197201)
2010
27
Beta-blocker therapy and hemophagocytic lymphohistiocytosis: a case report. (20634935)
2010
28
Pediatric acute lymphoblastic leukemia complicated by secondary hemophagocytic lymphohistiocytosis. (19459197)
2009
29
Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation. (19950846)
2009
30
Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant. (19058215)
2009
31
Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. (18311812)
2008
32
Understanding organ dysfunction in hemophagocytic lymphohistiocytosis. (18427781)
2008
33
Acute human immunodeficiency virus syndrome presenting with hemophagocytic lymphohistiocytosis. (18452272)
2008
34
Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis. (18085676)
2008
35
An unusual cause of ascites: hemophagocytic lymphohistiocytosis. (17536139)
2007
36
Dual and discrepant case publication in regard to hemophagocytic lymphohistiocytosis and child abuse. (17576549)
2007
37
Nonfamilial hemophagocytic lymphohistiocytosis. (17696206)
2007
38
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. (17525286)
2007
39
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. (16778144)
2006
40
Newborn infant with hemophagocytic lymphohistiocytosis and generalized skin eruptions. (16958808)
2006
41
Success with infliximab in treating refractory hemophagocytic lymphohistiocytosis. (16369976)
2006
42
Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis. (16251179)
2005
43
Hemophagocytosis in hemophagocytic lymphohistiocytosis. (16315266)
2005
44
Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. (15632205)
2005
45
Hemophagocytic lymphohistiocytosis associated with visceral leishmaniasis: a case report. (16020131)
2005
46
Secondary hemophagocytic lymphohistiocytosis in Turkish children. (16371881)
2005
47
Disseminated Fusarium oxysporum infection in hemophagocytic lymphohistiocytosis. (15597228)
2004
48
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). (14622600)
2003
49
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. (11179007)
2001
50
Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors. (9389690)
1997

Genetic Variations for Hemophagocytic Lymphohistiocytosis

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Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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37NCBI BioSystems Database, 52R&D Systems, 4Cell Signaling Technology, 12EMD Millipore, 29KEGG
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Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis

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44Novoseek, 24HMDB
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Compounds related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chromium4410.3PRF1, GNLY, GZMB
2phospholipid4410.2SMPD1, IL2RA, PRF1, ARF6
3tyrosine4410.2SMPD1, IL2RA, SH2D1A, ARF6, FHL2, IRF5
4mannose 6-phosphate44 2411.0GZMB, SRGN, SMPD1

GO Terms for genes affiliated with Hemophagocytic Lymphohistiocytosis

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet