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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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
Defective UNC13D Gene-associated Familial Hemophagocytic Lymphohistiocytosis Triggered by Visceral Leishmaniasis: A Diagnostic Challenge. (23774160)
2014
2
Successful engraftment and survival following allogeneic hematopoietic stem cell transplant in a child with familial hemophagocytic lymphohistiocytosis. (22161639)
2013
3
Downbeat Nystagmus Secondary to Familial Hemophagocytic Lymphohistiocytosis. (24149285)
2013
4
Familial Hemophagocytic Lymphohistiocytosis Type 3 Diagnosed at School Age: A Case Report. (23669735)
2013
5
Association of nonimmune hydrops fetalis with familial hemophagocytic lymphohistiocytosis in identical twin neonates with perforin His222Arg (c665A>G) mutation. (23073042)
2013
6
Down-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations. (24051121)
2013
7
Reduced-intensity conditioning in unrelated donor cord blood transplantation for familial hemophagocytic lymphohistiocytosis. (22488407)
2012
8
BCG lymphadenitis in neonates with familial hemophagocytic lymphohistiocytosis. (22330170)
2012
9
Treatment of familial hemophagocytic lymphohistiocytosis with third-party mesenchymal stromal cells. (22738174)
2012
10
Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease. (22129058)
2011
11
A665G mutation in PRF1 in a Turkish infant with familial hemophagocytic lymphohistiocytosis. (21157897)
2011
12
Central nervous system involvement in a case of familial hemophagocytic lymphohistiocytosis with perforin mutation. (22029169)
2011
13
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. (21931115)
2011
14
Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging. (21959744)
2011
15
Familial hemophagocytic lymphohistiocytosis in 2 siblings with dysmorphogenesis: a new syndrome or an association between 2 syndromes?! (22009007)
2011
16
STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. (20486178)
2010
17
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. (20015888)
2010
18
Molecular basis of familial hemophagocytic lymphohistiocytosis. (20378576)
2010
19
Familial hemophagocytic lymphohistiocytosis in a 6-week-old male infant. (20698142)
2010
20
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. (20823128)
2010
21
Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5). (21183701)
2010
22
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. (19884660)
2009
23
Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis. (19595804)
2009
24
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. (18710388)
2008
25
Myelofibrosis in a patient with familial hemophagocytic lymphohistiocytosis. (18253962)
2008
26
Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis. (18000860)
2008
27
Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations. (18190960)
2008
28
Severe autoimmune hemolytic anemia after unrelated umbilical cord blood transplant for familial hemophagocytic lymphohistiocytosis: significant improvement after treatment with rituximab. (17279011)
2007
29
Sensorineural hearing loss in a case of familial hemophagocytic lymphohistiocytosis. (16358309)
2007
30
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. (17525286)
2007
31
Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis. (17420270)
2007
32
Perforin gene analaysis in an Iranian family with familial hemophagocytic lymphohistiocytosis. (17652853)
2007
33
A neurologic presentation of familial hemophagocytic lymphohistiocytosis which mimicked septic emboli to the brain. (17715280)
2007
34
Atypical familial hemophagocytic lymphohistiocytosis responding to non-cytotoxic therapy. (16724310)
2007
35
Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients. (17674359)
2007
36
Prolonged course of familial hemophagocytic lymphohistiocytosis. (17164654)
2006
37
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. (16778144)
2006
38
A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis. (16443553)
2006
39
Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people. (16180048)
2005
40
Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. (15632205)
2005
41
Loss of intrahepatic bile ducts: an important feature of familial hemophagocytic lymphohistiocytosis. (15906086)
2005
42
Familial hemophagocytic lymphohistiocytosis in two brothers. (15535343)
2004
43
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. (11179007)
2001
44
Reduced Tyk2/SHP-1 interaction and lack of SHP-1 mutation in a kindred of familial hemophagocytic lymphohistiocytosis. (9519782)
1998
45
Heterogeneity of immune markers in hemophagocytic lymphohistiocytosis: comparative study of 9 familial and 14 familial inheritance-unproved cases. (9628431)
1998
46
Familial hemophagocytic lymphohistiocytosis. Differential diagnosis with secondary hemophagocytic syndromes]. (9406478)
1997
47
Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors. (9389690)
1997
48
Eruptive fever of rare cause: familial hemophagocytic lymphohistiocytosis]. (7842105)
1994
49
Hemophagocytic Lymphohistiocytosis, Familial (20301617)
1993
50
Hyperferritinemia in malignant histiocytosis, virus-associated hemophagocytic syndrome and familial erythrophagocytic lymphohistiocytosis. A survey of pediatric cases. (2929350)
1989

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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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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