FEL
MCID: HMP002
MIFTS: 63

Hemophagocytic Lymphohistiocytosis (FEL) malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Neuronal diseases categories
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Summaries for Hemophagocytic Lymphohistiocytosis

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 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 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 wtCFTR and deltaF508 traffic Late endosome and Lysosome norm and CF and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Affiliated tissues include liver, skin and monocytes, and related mouse phenotypes are liver/biliary system and nervous 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...

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 31LifeMap Discovery™, 21Genetics Home Reference, 20GeneTests, 22GTR, 45Novoseek, 62UMLS, 47OMIM, 40NCIt, 58SNOMED-CT, 35MeSH, 27ICD9CM, 25ICD10
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Classifications:



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 62
hemophagocytic syndrome 8 21
hemophagocytic lymphohistiocytosis, familial, 1 47
primary hemophagocytic hymphohistiocytosis 21
familial hemophagocytic histiocytosis 21
haemophagocytic lymphohistiocytosis 8
lymphohistiocytosis, hemophagocytic 62
familial hemophagocytic reticulosis 21
lymphohistiocytosis hemophagocytic 45
familial histiocytic reticulosis 43
haemophagocytic syndrome 8
hantavirus infections 62
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

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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 292)
idRelated DiseaseScoreTop Affiliating Genes
1griscelli syndrome type 230.3UNC13D, RAB27A
2chediak-higashi syndrome30.2UNC13D, SH2D1A, STX11, RAB27A
3leukemia10.8
4hemophagocytic lymphohistiocytosis, familial, 410.7
5hematopoietic stem cell transplantation10.7
6lymphoblastic leukemia10.6
7visceral leishmaniasis10.6
8leishmaniasis10.6
9hemophagocytic lymphohistiocytosis, familial, 310.6
10kawasaki disease10.5
11hemophagocytic lymphohistiocytosis, familial, 210.5
12macrophage activation syndrome10.5
13malignant histiocytosis10.5
14influenza10.5
15familial hemophagocytic lymphohistiocytosis 510.5
16sepsis10.5
17arthritis10.4
18chronic lymphocytic leukemia10.4
19pneumonia10.4
20tuberculosis10.4
21hantavirus pulmonary syndrome10.4
22acute liver failure10.4
23crohn's disease10.4
24autoimmune hemolytic anemia10.4
25chronic granulomatous disease10.4
26acute myeloid leukemia10.4
27juvenile myelomonocytic leukemia10.4
28dermatomyositis10.4
29hemolytic anemia10.4
30herpes simplex10.4
31myelofibrosis10.4
32myeloid leukemia10.4
33panniculitis10.4
34hemophagocytic lymphohistiocytosis, familial10.4
35griscelli syndrome10.4
36hydrops fetalis10.4
37peripheral t-cell lymphoma10.4
38miliary tuberculosis10.3
39langerhans-cell histiocytosis10.3
40infectious mononucleosis10.3
41systemic lupus erythematosus10.3
42pancytopenia10.3
43hermansky-pudlak syndrome10.3
44anaplastic large cell lymphoma10.3
45scrub typhus10.3
46disseminated intravascular coagulation10.3
47encephalitis10.3
48hepatitis10.3
49histoplasmosis10.3
50lupus erythematosus10.3

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



Diseases related to hemophagocytic lymphohistiocytosis

Symptoms for Hemophagocytic Lymphohistiocytosis

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47OMIM
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Clinical features from OMIM:

613101,603553,603552,608898

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis

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42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hemophagocytic Lymphohistiocytosis

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:

33
Liver, Skin, Monocytes, Spleen, T cells, B cells, Bone marrow, Bone, Myeloid, Nk cells, Kidney, Brain, Pancreas, Spinal cord, Lung, Colon, Tonsil

Animal Models for Hemophagocytic Lymphohistiocytosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.2SLC40A1, PRF1, GK, GDF15
2MP:00036317.2GDF15, GK, PRF1, FHL1, RAB27A, SLC40A1
3MP:00053867.2PRF1, STX11, SLC40A1, GDF15, GK, FHL1
4MP:00053877.2SLC40A1, RAB27A, STXBP2, PRF1, STX11, IRF5
5MP:00053787.1GDF15, RAB27A, FHL1, STX11, PRF1, GK
6MP:00053976.6STXBP2, STX11, PRF1, SLC40A1, RAB27A, IRF5
7MP:00053766.4SH2D1A, STX11, GK, GDF15, FHL1, IRF5

Publications for Hemophagocytic Lymphohistiocytosis

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52PubMed
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Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50)    (show all 513)
idTitleAuthorsYear
1
Marrow assessment for hemophagocytic lymphohistiocytosis demonstrates poor correlation with disease probability. (24343738)
2014
2
Spectrum of imaging appearances in Australian children with central nervous system hemophagocytic lymphohistiocytosis. (24119957)
2014
3
Remission and Relapse of Hemophagocytic Lymphohistiocytosis in a Patient Harboring a PRF1 Homozygous Mutation: A Case Report. (23073044)
2014
4
Cognitive and psychosocial function post hematopoietic stem cell transplantation in children with hemophagocytic lymphohistiocytosis. (23987797)
2013
5
Hemophagocytic lymphohistiocytosis in a newborn infant born to a mother with SjAPgren syndrome antibodies. (23803677)
2013
6
Etoposide-containing conditioning regimen reduces the occurrence of hemophagocytic lymphohistiocytosis after SCT. (24037021)
2013
7
Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association. (24058739)
2013
8
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. (23973892)
2013
9
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
10
Use of Recombinant Thrombomodulin in Disseminated Intravascular Coagulation Complicated Hemophagocytic Lymphohistiocytosis. (23912823)
2013
11
Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis. (22682420)
2012
12
Enteric Fever presenting as secondary hemophagocytic lymphohistiocytosis. (22415495)
2012
13
Hemophagocytic lymphohistiocytosis can mimic the superior vena cava syndrome. (22395213)
2012
14
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
15
Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease. (22129058)
2011
16
Serum neopterin levels as a diagnostic marker of hemophagocytic lymphohistiocytosis syndrome. (21270283)
2011
17
Hemophagocytic lymphohistiocytosis following differentiation syndrome in acute promyelocytic leukemia. (21657955)
2011
18
Causes, clinical symptoms, and outcomes of infectious diseases associated with hemophagocytic lymphohistiocytosis in Taiwanese adults. (21524613)
2011
19
Cytotoxic T-lymphocyte-associated antigen 4 gene polymorphisms in Japanese children with infection-associated hemophagocytic lymphohistiocytosis. (20224272)
2010
20
STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. (20486178)
2010
21
Myelodysplastic syndrome (MDS) as a late stage of subclinical hemophagocytic lymphohistiocytosis (HLH): a putative role for Leptospira infection. A hypothesis. (20870590)
2010
22
Alemtuzumab as a bridge to allogeneic SCT in atypical hemophagocytic lymphohistiocytosis. (20404855)
2010
23
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. (19884660)
2009
24
Hemophagocytic lymphohistiocytosis (HLH) and related disorders. (20008190)
2009
25
False positivity of FDG-PET during hemophagocytic lymphohistiocytosis in a child with Hodgkin lymphoma in remission. (19125095)
2009
26
Infection of T lymphocytes in non-Asian patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. (19533652)
2009
27
Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. (18311812)
2008
28
The role of hemophagocytosis in bone marrow aspirates in the diagnosis of hemophagocytic lymphohistiocytosis. (18061932)
2008
29
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. (18710388)
2008
30
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)
2008
31
Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis. (18240215)
2008
32
Myelofibrosis in a child with EBV-associated hemophagocytic lymphohistiocytosis. (18454467)
2008
33
CNS involvement in hemophagocytic lymphohistiocytosis: CT and MR findings. (17277568)
2007
34
Two cases of ampulla (takotsubo-shaped) cardiomyopathy associated with hemophagocytic lymphohistiocytosis. (17215570)
2007
35
An unusual cause of ascites: hemophagocytic lymphohistiocytosis. (17536139)
2007
36
Severe autoimmune hemolytic anemia after unrelated umbilical cord blood transplant for familial hemophagocytic lymphohistiocytosis: significant improvement after treatment with rituximab. (17279011)
2007
37
Cerebrospinal fluid involvement in a case of visceral leishmaniasis associated with hemophagocytic lymphohistiocytosis. (21748112)
2007
38
Nationwide survey of hemophagocytic lymphohistiocytosis in Japan. (17675268)
2007
39
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. (16937360)
2007
40
Successful treatment with liposteroid followed by reduced intensity stem cell transplantation in an infant with perforin deficiency presenting with hemophagocytic lymphohistiocytosis. (17356398)
2007
41
Severe bacteria-associated hemophagocytic lymphohistiocytosis in an extremely premature infant. (17888050)
2007
42
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. (16278825)
2006
43
Disseminated hyperkeratotic and granulomatous nodules in a child with fatal Epstein-Barr-virus-associated hemophagocytic lymphohistiocytosis. (16445409)
2006
44
Evaluation of apoptosis in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. (16419109)
2006
45
Fulminant neonatal liver failure in siblings: probable congenital hemophagocytic lymphohistiocytosis. (16944969)
2006
46
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. (15755897)
2005
47
Neuron-specific enolase in hemophagocytic lymphohistiocytosis: a potential indicator for macrophage activation? (10979210)
2000
48
Reduced Tyk2/SHP-1 interaction and lack of SHP-1 mutation in a kindred of familial hemophagocytic lymphohistiocytosis. (9519782)
1998
49
Familial hemophagocytic lymphohistiocytosis. Differential diagnosis with secondary hemophagocytic syndromes]. (9406478)
1997
50
Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors. (9389690)
1997

Variations for Hemophagocytic Lymphohistiocytosis

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Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis

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2BioGPS, 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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50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 5Cell Signaling Technology
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Pathways related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8RAB27A, UNC13D
29.8RAB27A, UNC13D
39.5SH2D1A, GDF15
49.0IRF5, SH2D1A, GDF15

Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis

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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:0703829.8RAB27A, UNC13D
2cytolytic granuleGO:0441949.6STXBP2, PRF1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of mast cell degranulationGO:04330410.0STXBP2, UNC13D
2cytotoxic T cell degranulationGO:0433169.9RAB27A, STX11
3neutrophil degranulationGO:0433129.9STX11, STXBP2
4cellular defense responseGO:0069689.8PRF1, SH2D1A
5positive regulation of exocytosisGO:0459219.7RAB27A, UNC13D
6natural killer cell degranulationGO:0433209.7RAB27A, STX11, UNC13D
7defense response to virusGO:0516079.1PRF1, IRF5, UNC13D

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055155.6SLC40A1, UNC13D, TNFSF12, SH2D1A, IRF5, PRF1

Products for genes affiliated with Hemophagocytic Lymphohistiocytosis

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Sources for Hemophagocytic Lymphohistiocytosis

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet