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, Spinal cord, Colon, Pancreas, Tonsil, 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:00053979.9PRF1, SRGN, RAB27A, IL2RA, SH2D1A, STX11
3MP:00053879.7SMPD1, GZMB, SRGN, RAB27A, IL2RA, SH2D1A

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 a newborn infant born to a mother with SjAPgren syndrome antibodies. (23803677)
2013
2
Secondary hemophagocytic lymphohistiocytosis possibly induced by interferon beta-1a therapy. (24399189)
2013
3
Hemophagocytic lymphohistiocytosis associated with visceral leishmaniasis in late adulthood. (23324220)
2013
4
Sudden unexpected death due to hemophagocytic lymphohistiocytosis syndrome. (23682740)
2013
5
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients. (23592409)
2013
6
Characterization of Epstein-Barr virus (EBV)-infected cells in EBV-associated hemophagocytic lymphohistiocytosis in two patients with X-linked lymphoproliferative syndrome type 1 and type 2. (22325832)
2012
7
Hemophagocytic lymphohistiocytosis in a rheumatoid arthritis patient treated with infliximab. (22449679)
2012
8
Secondary hemophagocytic lymphohistiocytosis in adults: an update on diagnosis and therapy. (23271259)
2012
9
Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. (23135662)
2012
10
Spinal cord involvement in a child with familial hemophagocytic lymphohistiocytosis. (23560006)
2012
11
Hemophagocytic lymphohistiocytosis associated with necrotizing enterocolitis in premature newborns. (22315234)
2012
12
Lymphocyte-depleted Hodgkin lymphoma complicating hemophagocytic lymphohistiocytosis as an initial manifestation: a case report and review of the literature. (23124152)
2012
13
Serum neopterin levels as a diagnostic marker of hemophagocytic lymphohistiocytosis syndrome. (21270283)
2011
14
Fulminant hemophagocytic lymphohistiocytosis induced by pandemic A (H1N1) influenza: a case report. (21722406)
2011
15
Diabetes insipidus associated with hemophagocytic lymphohistiocytosis: first case report. (21742615)
2011
16
Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4). (21298754)
2011
17
Significance of soluble interleukin-2 receptor in patients with hemophagocytic lymphohistiocytosis. (21425960)
2011
18
Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation. (20855862)
2010
19
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. (21152410)
2010
20
Cytophagic histiocytic panniculitis and hemophagocytic lymphohistiocytosis: an overview. (20666826)
2010
21
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. (20823128)
2010
22
Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in adults characterized by high viral genome load within circulating natural killer cells. (20504238)
2010
23
Hemophagocytic lymphohistiocytosis at initiation of kawasaki disease and their differential diagnosis. (20367269)
2010
24
Necrotizing epiglottitis and hemophagocytic lymphohistiocytosis. (19062109)
2009
25
Hemophagocytic lymphohistiocytosis in the premature neonate: a case study. (20010143)
2009
26
Association of monoclonal expansion of Epstein-Barr virus-negative CD158a+ NK cells secreting large amounts of gamma interferon with hemophagocytic lymphohistiocytosis. (19020108)
2009
27
Characteristics of hemophagocytic lymphohistiocytosis in neonates: a nationwide survey in Japan. (19446847)
2009
28
The early diagnosis and clinical analysis of 57 cases of acquired hemophagocytic lymphohistiocytosis]. (19576122)
2009
29
Sequential transplants for respective relapse of Hodgkin disease and hemophagocytic lymphohistiocytosis: a treatment dilemma. (19755921)
2009
30
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). (18991284)
2008
31
Increased serum monocyte chemoattractant protein-1, macrophage inflammatory protein-1beta, and interleukin-8 concentrations in hemophagocytic lymphohistiocytosis. (18623207)
2008
32
Hyperferritinemia in hemophagocytic lymphohistiocytosis and related diseases. (18506755)
2008
33
Cerebrospinal fluid involvement in a case of visceral leishmaniasis associated with hemophagocytic lymphohistiocytosis. (21748112)
2007
34
Subcutaneous panniculitis-like T-cell lymphoma presenting with hemophagocytic lymphohistiocytosis and skin lesions with characteristic high-resolution ultrasonographic findings. (16465478)
2007
35
Etoposide-related secondary acute myeloid leukemia (t-AML) in hemophagocytic lymphohistiocytosis. (17066467)
2007
36
Diagnostic difficulties of the hemophagocytic lymphohistiocytosis (HLH) associated with the Epstein-Barr virus. (17356405)
2007
37
A neurologic presentation of familial hemophagocytic lymphohistiocytosis which mimicked septic emboli to the brain. (17715280)
2007
38
Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL). (16365863)
2006
39
Parvovirus B19: a cause for aplastic crisis and hemophagocytic lymphohistiocytosis. (16514614)
2006
40
Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. (16374518)
2006
41
Picture of the month: anaplastic large cell lymphoma with hemophagocytic lymphohistiocytosis. (17088522)
2006
42
Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection. (16956828)
2006
43
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. (16860143)
2006
44
Spontaneous Escherichia coli meningitis associated with hemophagocytic lymphohistiocytosis. (16959624)
2006
45
Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis. (16219800)
2006
46
An exclusive case of juvenile myelomonocytic leukemia in association with Kikuchi's disease and hemophagocytic lymphohistiocytosis and a review of the literature. (16487587)
2006
47
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. (15755897)
2005
48
Development of hemophagocytic lymphohistiocytosis in triplets infected with HHV-8. (15840696)
2005
49
Reduced Tyk2/SHP-1 interaction and lack of SHP-1 mutation in a kindred of familial hemophagocytic lymphohistiocytosis. (9519782)
1998
50
Capillary leak syndrome in patients with hemophagocytic lymphohistiocytosis. (7841719)
1994

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

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