FEL
MCID: HMP002
MIFTS: 60

Hemophagocytic Lymphohistiocytosis (FEL) malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Neuronal diseases categories
Download this MalaCard

Summaries for Hemophagocytic Lymphohistiocytosis

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 Hemophagocytic lymphohistiocytosis (hlh) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). people with hlh usually develop symptoms within the first months or years of life which may include fever, enlarged liver or spleen, cytopenia (lower-than-normal number of blood cells), and neurological abnormalities. hlh may be inherited in an autosomal recessive manner or it can have non-genetic causes in which case it is called acquired hlh. there are five subtypes of inherited hlh which are designated familial hlh, types 1-5. each subtype is caused by a change (mutation) in a different gene. the genetic cause of type 1 is currently unknown. types 2-5 are caused by mutations in the prf1 gene, the unc13d gene, the stx11 gene and the stxbp2 gene, respectively. treatment depends on a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. last updated: 11/9/2014

MalaCards based summary: 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 Deregulation of Rab and Rab Effector Genes in Bladder Cancer and wtCFTR and deltaF508 traffic Late endosome and Lysosome norm and CF . Affiliated tissues include liver, spleen and t cells, and related mouse phenotypes are immune system 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:65 Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British... more...

Descriptions from OMIM:46 267700,603553,613101,608898,603552

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

About this section

Hemophagocytic Lymphohistiocytosis, Aliases & Descriptions:

Name: Hemophagocytic Lymphohistiocytosis 30 8 42 10
Familial Hemophagocytic Lymphohistiocytosis 42 20 22 21 44
Familial Erythrophagocytic Lymphohistiocytosis 42 21 62
Primary Hemophagocytic Hymphohistiocytosis 21 62
Familial Hemophagocytic Lymphocytosis 21 62
Hemophagocytic Syndrome 8 21
Fhlh 21 62
Fhl 42 21
Hlh 42 62
Familial Haemophagocytic Lymphohistiocytosis 62
 
Familial Hemophagocytic Histiocytosis 21
Familial Hemophagocytic Reticulosis 21
Lymphohistiocytosis, Hemophagocytic 62
Lymphohistiocytosis Hemophagocytic 44
Familial Histiocytic Reticulosis 42
Haemophagocytic Syndrome 8
Hantavirus Infections 62
Hplh 21
Hps 8
Fel 21


Classifications:



External Ids:

Disease Ontology8 DOID:0050120
ICD9CM27 288.4
ICD1025 D76.1

Related Diseases for Hemophagocytic Lymphohistiocytosis

About this section

Diseases in the Hemophagocytic Lymphohistiocytosis, Familial, 4 family:

hemophagocytic lymphohistiocytosis Hemophagocytic Lymphohistiocytosis, Familial
Hemophagocytic Lymphohistiocytosis, Familial, 2 Hemophagocytic Lymphohistiocytosis, Familial, 3
Familial Hemophagocytic Lymphohistiocytosis 1 Familial Hemophagocytic Lymphohistiocytosis 5

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

(show top 50)    (show all 303)
idRelated DiseaseScoreTop Affiliating Genes
1griscelli syndrome type 229.9RAB27A, UNC13D
2chediak-higashi syndrome29.4UNC13D, SH2D1A, STX11, RAB27A
3leukemia10.8
4hemophagocytic lymphohistiocytosis, familial, 410.7
5hematopoietic stem cell transplantation10.7
6macrophage activation syndrome10.7
7acute lymphoblastic leukemia10.6
8lymphoblastic leukemia10.6
9sepsis10.6
10visceral leishmaniasis10.6
11leishmaniasis10.6
12hemophagocytic lymphohistiocytosis, familial, 310.6
13hypoplastic left heart syndrome10.5
14kawasaki disease10.5
15influenza10.5
16hemophagocytic lymphohistiocytosis, familial, 210.5
17malignant histiocytosis10.5
18arthritis10.5
19hepatitis10.5
20pneumonia10.5
21tuberculosis10.5
22hantavirus pulmonary syndrome10.5
23anaplastic large cell lymphoma10.5
24chronic lymphocytic leukemia10.5
25panniculitis10.5
26hydrops fetalis10.5
27familial hemophagocytic lymphohistiocytosis 510.5
28anhaptoglobinemia10.4
29acute liver failure10.4
30acute myeloid leukemia10.4
31chronic granulomatous disease10.4
32crohn's disease10.4
33hemolytic anemia10.4
34juvenile myelomonocytic leukemia10.4
35myelofibrosis10.4
36peripheral t-cell lymphoma10.4
37autoimmune hemolytic anemia10.4
38scrub typhus10.4
39hepatitis a10.4
40dermatomyositis10.4
41herpes simplex10.4
42myeloid leukemia10.4
43typhus10.4
44hemophagocytic lymphohistiocytosis, familial10.4
45griscelli syndrome10.4
46hemorrhagic fever10.4
47familial hemophagocytic lymphohistiocytosis 110.4
48cytophagic histiocytic panniculitis10.4
49miliary tuberculosis10.3
50artery disease10.3

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



Diseases related to hemophagocytic lymphohistiocytosis

Symptoms for Hemophagocytic Lymphohistiocytosis

About this section


Clinical features from OMIM:

267700,603553,613101,608898,603552

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis

About this section

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

About this section

Genetic tests related to Hemophagocytic Lymphohistiocytosis:

id Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis20 22 UNC13D

Anatomical Context for Hemophagocytic Lymphohistiocytosis

About this section

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:

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

Animal Models for Hemophagocytic Lymphohistiocytosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.0TNFSF12, SH2D1A, PRF1, STX11, STXBP2, RAB27A
2MP:00053976.7RAB27A, UNC13D, TNFSF12, SH2D1A, PRF1, STX11

Publications for Hemophagocytic Lymphohistiocytosis

About this section

Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50)    (show all 562)
idTitleAuthorsYear
1
Hemophagocytic lymphohistiocytosis associated with cytomegalovirus infection in an immunocompetent infant: a diagnostic and therapeutic challenge! (25332603)
2014
2
Hemophagocytic Lymphohistiocytosis (HLH) Associated with T-Cell Lymphomas: Broadening our Differential for Fever of Unknown Origin. (25317396)
2014
3
Marrow assessment for hemophagocytic lymphohistiocytosis demonstrates poor correlation with disease probability. (24343738)
2014
4
Acute brucellosis with typical hemophagocytic lymphohistiocytosis accompanying elevated tumor markers. (25305773)
2014
5
Spectrum of imaging appearances in Australian children with central nervous system hemophagocytic lymphohistiocytosis. (24119957)
2014
6
Hereditary and acquired hemophagocytic lymphohistiocytosis. (25310211)
2014
7
Cognitive and psychosocial function post hematopoietic stem cell transplantation in children with hemophagocytic lymphohistiocytosis. (23987797)
2013
8
Hemophagocytic lymphohistiocytosis in a newborn infant born to a mother with SjAPgren syndrome antibodies. (23803677)
2013
9
Etoposide-containing conditioning regimen reduces the occurrence of hemophagocytic lymphohistiocytosis after SCT. (24037021)
2013
10
Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association. (24058739)
2013
11
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. (23973892)
2013
12
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
13
CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis. (22422896)
2012
14
Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis. (22682420)
2012
15
Enteric Fever presenting as secondary hemophagocytic lymphohistiocytosis. (22415495)
2012
16
Hemophagocytic lymphohistiocytosis can mimic the superior vena cava syndrome. (22395213)
2012
17
Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease. (22129058)
2011
18
Serum neopterin levels as a diagnostic marker of hemophagocytic lymphohistiocytosis syndrome. (21270283)
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
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. (15755897)
2005
46
The role of infections in primary hemophagocytic lymphohistiocytosis: a case series and review of the literature. (11595993)
2001
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

About this section

Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis

About this section
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

About this section

Pathways related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3RAB27A, UNC13D
29.3RAB27A, UNC13D

Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis

About this section

GO Terms for genes affiliated with Hemophagocytic Lymphohistiocytosis

About this section

Cellular components related to Hemophagocytic Lymphohistiocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytolytic granuleGO:0441949.7STXBP2, PRF1
2lysosomeGO:0057649.3RAB27A, UNC13D
3exocytic vesicleGO:0703829.2RAB27A, UNC13D
4late endosomeGO:0057709.0RAB27A, UNC13D

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of mast cell degranulationGO:0433049.8STXBP2, UNC13D
2defense response to virusGO:0516079.8PRF1, UNC13D
3neutrophil degranulationGO:0433129.6STX11, STXBP2
4cytotoxic T cell degranulationGO:0433169.3RAB27A, STX11
5cellular defense responseGO:0069689.3PRF1, SH2D1A
6positive regulation of exocytosisGO:0459219.2RAB27A, UNC13D
7natural killer cell degranulationGO:0433209.0RAB27A, STX11, UNC13D

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.4RAB27A, FHL2, STXBP2, STX11, PRF1, SH2D1A

Products for genes affiliated with Hemophagocytic Lymphohistiocytosis

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Hemophagocytic Lymphohistiocytosis

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet