FHLH
MCID: HMP008
MIFTS: 26

Hemophagocytic Lymphohistiocytosis, Familial (FHLH) malady

Immune, Genetic categories

Summaries for Hemophagocytic Lymphohistiocytosis, Familial

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19GeneReviews, 33MalaCards
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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 bone marrow, brain and spinal cord, and related mouse phenotype immune system.

GeneReviews summary for hlh

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial

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19GeneReviews, 61UMLS
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Classifications:

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


Aliases & Descriptions:

hemophagocytic lymphohistiocytosis, familial 19
familial erythrophagocytic lymphohistiocytosis 19
familial hemophagocytic lymphocytosis 61
fhlh 19


Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial

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17GeneCards, 18GeneDecks
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Diseases related to Hemophagocytic Lymphohistiocytosis, Familial via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hemophagocytic lymphohistiocytosis31.3PRF1, UNC13D
2hemophagocytic lymphohistiocytosis, familial, 410.7
3hemophagocytic lymphohistiocytosis, familial, 210.6
4hemophagocytic lymphohistiocytosis, familial, 310.6
5familial hemophagocytic lymphohistiocytosis 510.4
6malignant histiocytosis10.3
7chediak-higashi syndrome10.0STX11, UNC13D

Graphical network of diseases related to Hemophagocytic Lymphohistiocytosis, Familial:



Diseases related to hemophagocytic lymphohistiocytosis, familial

Clinical Features for Hemophagocytic Lymphohistiocytosis, Familial

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial

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33MalaCards
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MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial:

33
Bone marrow, Brain, Spinal cord, Liver, Nk cells, T cells, B cells

Animal Models for Hemophagocytic Lymphohistiocytosis, Familial or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.5PRF1, STXBP2, STX11, UNC13D

Publications for Hemophagocytic Lymphohistiocytosis, Familial

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51PubMed
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Articles related to Hemophagocytic Lymphohistiocytosis, Familial:

(show top 50)    (show all 95)
idTitleAuthorsYear
1
Defective UNC13D Gene-associated Familial Hemophagocytic Lymphohistiocytosis Triggered by Visceral Leishmaniasis: A Diagnostic Challenge. (23774160)
2014
2
Unusual Clinical Presentations of Familial Hemophagocytic Lymphohistiocytosis Type-2. (24390453)
2014
3
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
4
Successful engraftment and survival following allogeneic hematopoietic stem cell transplant in a child with familial hemophagocytic lymphohistiocytosis. (22161639)
2013
5
Downbeat Nystagmus Secondary to Familial Hemophagocytic Lymphohistiocytosis. (24149285)
2013
6
Familial Hemophagocytic Lymphohistiocytosis Type 3 Diagnosed at School Age: A Case Report. (23669735)
2013
7
Down-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations. (24051121)
2013
8
Familial and acquired hemophagocytic lymphohistiocytosis. (22248322)
2012
9
Reduced-intensity conditioning in unrelated donor cord blood transplantation for familial hemophagocytic lymphohistiocytosis. (22488407)
2012
10
BCG lymphadenitis in neonates with familial hemophagocytic lymphohistiocytosis. (22330170)
2012
11
Treatment of familial hemophagocytic lymphohistiocytosis with third-party mesenchymal stromal cells. (22738174)
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
Familial hemophagocytic lymphohistiocytosis in 2 siblings with dysmorphogenesis: a new syndrome or an association between 2 syndromes?! (22009007)
2011
18
Pathology of the liver in familial hemophagocytic lymphohistiocytosis. (20442642)
2010
19
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. (20015888)
2010
20
Molecular basis of familial hemophagocytic lymphohistiocytosis. (20378576)
2010
21
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. (20823128)
2010
22
Familial hemophagocytic lymphohistiocytosis: clinical and neuroradiological findings and review of the literature. (19649640)
2010
23
Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation. (20197201)
2010
24
Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5). (21183701)
2010
25
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. (19884660)
2009
26
Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis. (19595804)
2009
27
Prolonged neurologic course of familial hemophagocytic lymphohistiocytosis. (19664539)
2009
28
Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations. (18190960)
2008
29
Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia. (18421721)
2008
30
Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis. (18799942)
2008
31
Severe autoimmune hemolytic anemia after unrelated umbilical cord blood transplant for familial hemophagocytic lymphohistiocytosis: significant improvement after treatment with rituximab. (17279011)
2007
32
Sensorineural hearing loss in a case of familial hemophagocytic lymphohistiocytosis. (16358309)
2007
33
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. (17525286)
2007
34
Familial and acquired hemophagocytic lymphohistiocytosis. (17151879)
2007
35
Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis. (17420270)
2007
36
Atypical familial hemophagocytic lymphohistiocytosis responding to non-cytotoxic therapy. (16724310)
2007
37
Prolonged course of familial hemophagocytic lymphohistiocytosis. (17164654)
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
Near fatal cerebellar swelling in familial hemophagocytic lymphohistiocytosis. (15165642)
2004
42
Familial hemophagocytic lymphohistiocytosis in two brothers. (15535343)
2004
43
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis. (12483306)
2003
44
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). (14622600)
2003
45
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. (11179007)
2001
46
Perforin gene defects in familial hemophagocytic lymphohistiocytosis. (10583959)
1999
47
Reduced Tyk2/SHP-1 interaction and lack of SHP-1 mutation in a kindred of familial hemophagocytic lymphohistiocytosis. (9519782)
1998
48
Familial hemophagocytic lymphohistiocytosis. Differential diagnosis with secondary hemophagocytic syndromes]. (9406478)
1997
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

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

Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial

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

3CDC
13ExPASy
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22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
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