FHLH
MCID: HMP008
MIFTS: 28

Hemophagocytic Lymphohistiocytosis, Familial (FHLH) malady

Immune diseases, Genetic diseases categories

Summaries for Hemophagocytic Lymphohistiocytosis, Familial

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MalaCards: Hemophagocytic Lymphohistiocytosis, Familial, also known as familial erythrophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis and hemophagocytic lymphohistiocytosis, familial, 4. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial is PRF1 (perforin 1 (pore forming protein)). Affiliated tissues include brain, bone marrow and bone, and related mouse phenotype immune system.

GeneReviews summary for hlh

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial

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Classifications:

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


Aliases & Descriptions:

hemophagocytic lymphohistiocytosis, familial 19
familial erythrophagocytic lymphohistiocytosis 19
familial hemophagocytic lymphocytosis 60
fhlh 19


Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial

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Graphical network of diseases related to Hemophagocytic Lymphohistiocytosis, Familial:



Diseases related to hemophagocytic lymphohistiocytosis, familial

Clinical Features for Hemophagocytic Lymphohistiocytosis, Familial

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Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial

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Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial

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32MalaCards
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MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial:

32
Brain, Bone marrow, Bone, Spinal cord, Liver, Nk cells, T cells

Animal Models for Hemophagocytic Lymphohistiocytosis, Familial or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.5PRF1, STXBP2, STX11, UNC13D

Publications for Hemophagocytic Lymphohistiocytosis, Familial

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50PubMed
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Articles related to Hemophagocytic Lymphohistiocytosis, Familial:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
Unusual Clinical Presentations of Familial Hemophagocytic Lymphohistiocytosis Type-2. (24390453)
2014
2
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
3
Successful engraftment and survival following allogeneic hematopoietic stem cell transplant in a child with familial hemophagocytic lymphohistiocytosis. (22161639)
2013
4
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
5
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients. (23592409)
2013
6
Familial Hemophagocytic Lymphohistiocytosis Type 3 Diagnosed at School Age: A Case Report. (23669735)
2013
7
Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations. (23382066)
2013
8
Down-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations. (24051121)
2013
9
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). (22451424)
2012
10
Familial and acquired hemophagocytic lymphohistiocytosis. (22248322)
2012
11
Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity. (21990010)
2012
12
Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series. (22970278)
2012
13
Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis. (22796692)
2012
14
Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease. (22129058)
2011
15
A665G mutation in PRF1 in a Turkish infant with familial hemophagocytic lymphohistiocytosis. (21157897)
2011
16
Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4). (21298754)
2011
17
Pathology of the liver in familial hemophagocytic lymphohistiocytosis. (20442642)
2010
18
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. (20558610)
2010
19
Molecular basis of familial hemophagocytic lymphohistiocytosis. (20378576)
2010
20
Familial hemophagocytic lymphohistiocytosis: clinical and neuroradiological findings and review of the literature. (19649640)
2010
21
Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation. (20197201)
2010
22
XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. (20489057)
2010
23
Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis. (19595804)
2009
24
Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation. (19950846)
2009
25
Prolonged neurologic course of familial hemophagocytic lymphohistiocytosis. (19664539)
2009
26
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. (19804848)
2009
27
Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reports. (18432499)
2008
28
Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia. (18421721)
2008
29
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. (18492689)
2008
30
Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis. (18799942)
2008
31
Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. (17698967)
2007
32
Familial and acquired hemophagocytic lymphohistiocytosis. (17151879)
2007
33
Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis. (17420270)
2007
34
Prolonged course of familial hemophagocytic lymphohistiocytosis. (17164654)
2006
35
Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL). (16365863)
2006
36
Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection. (16956828)
2006
37
Familial hemophagocytic lymphohistiocytosis with the MUNC13-4 mutation: a case report. (16416131)
2006
38
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. (15755897)
2005
39
Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people. (16180048)
2005
40
An inframe perforin gene deletion in familial hemophagocytic lymphohistiocytosis is associated with perforin expression. (15609274)
2005
41
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. (15703195)
2005
42
Near fatal cerebellar swelling in familial hemophagocytic lymphohistiocytosis. (15165642)
2004
43
Familial hemophagocytic lymphohistiocytosis in two brothers. (15535343)
2004
44
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis. (12483306)
2003
45
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). (14622600)
2003
46
Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping. (9915955)
1999
47
Perforin gene defects in familial hemophagocytic lymphohistiocytosis. (10583959)
1999
48
Reduced Tyk2/SHP-1 interaction and lack of SHP-1 mutation in a kindred of familial hemophagocytic lymphohistiocytosis. (9519782)
1998
49
Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors. (9389690)
1997
50
Eruptive fever of rare cause: familial hemophagocytic lymphohistiocytosis]. (7842105)
1994

Genetic Variations for Hemophagocytic Lymphohistiocytosis, Familial

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Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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Pathways for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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GO Terms for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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16Gene Ontology
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Cellular components related to Hemophagocytic Lymphohistiocytosis, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytolytic granuleGO:0441949.4PRF1, STXBP2

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

idNameGO IDScoreTop Affiliating Genes
1defense response to virusGO:0516079.5PRF1, UNC13D
2regulation of mast cell degranulationGO:0433049.0STXBP2, UNC13D

Products for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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Sources for Hemophagocytic Lymphohistiocytosis, Familial

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3CDC
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