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
Hemophagocytic Lymphohistiocytosis in Infants: A Single Center Experience from India. (24383954)
2014
2
Trichosporon Asahii, Sepsis, and Secondary Hemophagocytic Lymphohistiocytosis in Children with Hematologic Malignancy. (24383917)
2014
3
Treosulfan-based conditioning regimen for children and adolescents with hemophagocytic lymphohistiocytosis. (24162790)
2014
4
Etoposide-containing conditioning regimen reduces the occurrence of hemophagocytic lymphohistiocytosis after SCT. (24037021)
2013
5
Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association. (24058739)
2013
6
Hemophagocytic Lymphohistiocytosis Complicating T-Cell Lymphoma in a Patient with HIV Infection. (24073345)
2013
7
Perfusion-weighted cranial MR imaging findings in a patient with hemophagocytic lymphohistiocytosis. (23433674)
2013
8
Hemophagocytic lymphohistiocytosis associated with influenza A (H1N1) infection in a patient with chronic lymphocytic leukemia: an autopsy case report and review of the literature. (21724431)
2012
9
Hemophagocytic lymphohistiocytosis after hematopoietic stem cell transplantation in children: a nationwide survey in Japan. (22038983)
2012
10
A case of acute encephalopathy with hemophagocytic lymphohistiocytosis and clonal T-cell expansion. (21784590)
2012
11
Liver transplant for adult hemophagocytic lymphohistiocytosis: case report and literature review. (22920230)
2012
12
Hemophagocytic lymphohistiocytosis in pregnancy: a case report and review of treatment options. (23168071)
2012
13
Characterization of Epstein-Barr virus (EBV) BZLF1 gene promoter variants and comparison of cellular gene expression profiles in Japanese patients with infectious mononucleosis, chronic active EBV infection, and EBV-associated hemophagocytic lymphohistiocytosis. (22511310)
2012
14
Hemophagocytic lymphohistiocytosis as presenting feature of lupus. (23315111)
2012
15
Congenital hemophagocytic lymphohistiocytosis in a preterm infant: cytokine profile and a review of the disease. (21617564)
2011
16
Hemophagocytic Lymphohistiocytosis (HLH) Associated with Plasmodium vivax Infection: Case Report and Review of the Literature. (22247919)
2011
17
Cytomegalovirus associated hemophagocytic lymphohistiocytosis in patients suffering from Crohn's disease treated by azathioprine: a series of four cases. (21710533)
2011
18
How I treat hemophagocytic lymphohistiocytosis. (21828139)
2011
19
Acquired hemophagocytic lymphohistiocytosis associated with multiple myeloma. (20358309)
2011
20
Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome. (21878672)
2011
21
Familial hemophagocytic lymphohistiocytosis in the neonate. (21730897)
2011
22
A novel animal model of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in humanized mice. (21467545)
2011
23
Acute promyelocytic leukemia following chemotherapy for EBV-associated hemophagocytic lymphohistiocytosis. (21370422)
2011
24
Successful resolution of acute myelogenous leukemia-associated hemophagocytic lymphohistiocytosis with decitabine. (21142783)
2011
25
Treatment of Epstein-Barr virus-related hemophagocytic lymphohistiocytosis (EBV-HLH); update 2010. (21088619)
2011
26
Alemtuzumab as a bridge to allogeneic SCT in atypical hemophagocytic lymphohistiocytosis. (20404855)
2010
27
Development of secondary T-cell acute lymphoblastic leukemia in a child with hemophagocytic lymphohistiocytosis. (20589661)
2010
28
Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy. (20383897)
2010
29
Disseminated histoplasmosis associated with hemophagocytic lymphohistiocytosis in kidney transplant recipients. (20121728)
2010
30
Molecular basis of familial hemophagocytic lymphohistiocytosis. (20378576)
2010
31
Critical care management of patients with hemophagocytic lymphohistiocytosis. (20532477)
2010
32
Hemophagocytic lymphohistiocytosis (HLH) and related disorders. (20008190)
2009
33
Hemophagocytic lymphohistiocytosis-late diagnosis in an adult patient. (21847419)
2009
34
Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis. (18000860)
2008
35
Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations. (18190960)
2008
36
Hemophagocytic lymphohistiocytosis associated with uncontrolled inflammatory cytokinemia and chemokinemia was caused by systemic anaplastic large cell lymphoma: a case report and review of the literature. (19011482)
2008
37
Hemophagocytic lymphohistiocytosis onset during induction therapy for precursor B-cell acute lymphoblastic leukemia. (19131791)
2008
38
Prolonged hemophagocytic lymphohistiocytosis syndrome as an initial presentation of Hodgkin lymphoma: a case report. (19055804)
2008
39
Successful treatment of secondary hemophagocytic lymphohistiocytosis in a patient with disseminated histoplasmosis. (18854090)
2008
40
Precursor B-cell acute lymphoblastic leukemia presenting with hemophagocytic lymphohistiocytosis. (16856156)
2008
41
A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency. (18074390)
2008
42
Sensorineural hearing loss in a case of familial hemophagocytic lymphohistiocytosis. (16358309)
2007
43
Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. (17606450)
2007
44
Hemophagocytic lymphohistiocytosis in a neonate with cutis marmorata telangiectatica congenita. (17106557)
2006
45
Disseminated herpes virus (HSV-2) infection with rhabdomyolysis and hemophagocytic lymphohistiocytosis in a patient with bone marrow failure syndrome. (16715456)
2006
46
Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people. (16180048)
2005
47
Hemophagocytic lymphohistiocytosis (HLH). (16052961)
2005
48
Near fatal cerebellar swelling in familial hemophagocytic lymphohistiocytosis. (15165642)
2004
49
Hemophagocytic lymphohistiocytosis: an unusual initial presentation of acute HIV infection. (15602134)
2004
50
Neuron-specific enolase in hemophagocytic lymphohistiocytosis: a potential indicator for macrophage activation? (10979210)
2000

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