MCID: PRM304
MIFTS: 27

Primary Hemophagocytic Lymphohistiocytosis

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Hemophagocytic Lymphohistiocytosis

MalaCards integrated aliases for Primary Hemophagocytic Lymphohistiocytosis:

Name: Primary Hemophagocytic Lymphohistiocytosis 58
Genetic Hemophagocytic Lymphohistiocytosis 58

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

UMLS via Orphanet 72 C0272199
Orphanet 58 ORPHA158038

Summaries for Primary Hemophagocytic Lymphohistiocytosis

MalaCards based summary : Primary Hemophagocytic Lymphohistiocytosis, also known as genetic hemophagocytic lymphohistiocytosis, is related to lymphoproliferative syndrome and macrophage activation syndrome. An important gene associated with Primary Hemophagocytic Lymphohistiocytosis is UNC13D (Unc-13 Homolog D), and among its related pathways/superpathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). The drugs Antibodies, Monoclonal and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and testes.

Related Diseases for Primary Hemophagocytic Lymphohistiocytosis

Diseases in the Hemophagocytic Lymphohistiocytosis family:

Hemophagocytic Lymphohistiocytosis, Familial, 1 Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytic Lymphohistiocytosis, Familial, 2 Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytic Lymphohistiocytosis, Familial, 5 Secondary Hemophagocytic Lymphohistiocytosis
Primary Hemophagocytic Lymphohistiocytosis

Diseases related to Primary Hemophagocytic Lymphohistiocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome 29.9 UNC13D PRF1
2 macrophage activation syndrome 29.4 UNC13D RAB27A PRF1
3 hemophagocytic lymphohistiocytosis, familial, 2 29.2 UNC13D STX11 PRF1
4 hemophagocytic lymphohistiocytosis, familial, 3 29.0 UNC13D STX11 RAB27A
5 hemophagocytic lymphohistiocytosis 28.9 UNC13D STX11 RAB27A PRF1 GPT
6 hemophagocytic lymphohistiocytosis, familial, 1 28.7 UNC13D STX11 RAB27A PRF1
7 griscelli syndrome, type 2 28.6 UNC13D STX11 RAB27A PRF1
8 griscelli syndrome 28.6 UNC13D STX11 RAB27A PRF1
9 hemophagocytic lymphohistiocytosis, familial, 4 28.4 UNC13D STX11 RAB27A PRF1
10 splenomegaly 10.2
11 autosomal recessive disease 10.1
12 juvenile rheumatoid arthritis 10.1
13 systemic onset juvenile idiopathic arthritis 10.1
14 cytomegalovirus infection 10.1
15 hemochromatosis, neonatal 10.0
16 hemochromatosis, type 1 10.0
17 langerhans cell histiocytosis 10.0
18 microcephaly 10.0
19 thrombocytopenia 10.0
20 histiocytosis 10.0
21 acute disseminated encephalomyelitis 10.0
22 homologous wasting disease 10.0
23 secondary hemophagocytic lymphohistiocytosis 10.0
24 selective immunoglobulin deficiency disease 9.9 UNC13D STX11
25 dysgammaglobulinemia 9.9 UNC13D STX11
26 epidemic typhus 9.8 PRF1 GPT
27 severe cutaneous adverse reaction 9.7 PRF1 GPT
28 parasitic protozoa infectious disease 9.7 PRF1 GPT
29 primary bacterial infectious disease 9.7 PRF1 GPT
30 chronic granulomatous disease 9.6 STX11 PRF1
31 autoimmune lymphoproliferative syndrome 9.6 UNC13D PRF1
32 lymphoproliferative syndrome 1 9.5 UNC13D STX11 PRF1
33 lymphatic system disease 9.5 UNC13D STX11 PRF1
34 piebald trait 9.3 UNC13D STX11 RAB27A
35 hermansky-pudlak syndrome 9.2 STX11 RAB27A
36 lymphoproliferative syndrome, x-linked, 2 8.9 UNC13D STX11 RAB27A PRF1
37 lymphoproliferative syndrome, x-linked, 1 8.9 UNC13D STX11 RAB27A PRF1
38 chediak-higashi syndrome 8.9 UNC13D STX11 RAB27A PRF1
39 pancytopenia 8.9 UNC13D STX11 RAB27A PRF1

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



Diseases related to Primary Hemophagocytic Lymphohistiocytosis

Symptoms & Phenotypes for Primary Hemophagocytic Lymphohistiocytosis

Drugs & Therapeutics for Primary Hemophagocytic Lymphohistiocytosis

Drugs for Primary Hemophagocytic Lymphohistiocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies, Monoclonal Phase 3
2 Immunoglobulins Phase 3
3 Antiviral Agents Phase 3
4 Antibodies Phase 3
5 Anti-Infective Agents Phase 3
6 Interferon-gamma Phase 3
7 interferons Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label, Single Arm, Multicenter Study to Broaden Access to Emapalumab, an Anti-Interferon Gamma (Anti-IFNγ) Monoclonal Antibody, and to Assess Its Efficacy, Safety, Impact on Quality of Life, and Long-term Outcome in Pediatric Patients With Primary Hemophagocytic Lymphohistiocytosis Recruiting NCT03312751 Phase 3 Emapalumab

Search NIH Clinical Center for Primary Hemophagocytic Lymphohistiocytosis

Genetic Tests for Primary Hemophagocytic Lymphohistiocytosis

Anatomical Context for Primary Hemophagocytic Lymphohistiocytosis

MalaCards organs/tissues related to Primary Hemophagocytic Lymphohistiocytosis:

40
Bone, Liver, Testes, Bone Marrow, Nk Cells

Publications for Primary Hemophagocytic Lymphohistiocytosis

Articles related to Primary Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 57)
# Title Authors PMID Year
1
The role of allogeneic hematopoietic stem cell transplantation and Epstein-Barr virus infection on the treatment for child primary hemophagocytic lymphohistiocytosis patients with X-linked lymphoproliferative disease: A rare case report and family survey study. 61
32011062 2020
2
Role of interferon-γ in immune-mediated graft failure after allogeneic hematopoietic stem cell transplantation. 61
30792213 2019
3
Emapalumab for the treatment of relapsed/refractory hemophagocytic lymphohistiocytosis. 61
31537529 2019
4
Genetic characterization of pediatric primary hemophagocytic lymphohistiocytosis in China: a single-center study. 61
31388699 2019
5
Application of blood and immunodeficiency gene detection in the diagnosis of hemophagocytic lymphohistiocytosis patients. 61
31562900 2019
6
Senescence-accelerated mice (SAMP1/TA-1) treated repeatedly with lipopolysaccharide develop a condition that resembles hemophagocytic lymphohistiocytosis. 61
30819910 2019
7
Late relapse of primary hemophagocytic lymphohistiocytosis after hematopoietic stem cell transplantation: a consequence of low-level chimerism from a carrier donor? 61
31264179 2019
8
Soluble ST2 and CD163 as Potential Biomarkers to Differentiate Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome. 61
30671214 2019
9
Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis. 61
30104219 2018
10
Is an infectious trigger always required for primary hemophagocytic lymphohistiocytosis? Lessons from in utero and neonatal disease. 61
30070073 2018
11
High Rates of Community and Hospital Acquired Infections in Patients with Cellular Immunodeficiencies. 61
30267241 2018
12
Macrophage activation syndrome in adult systemic lupus erythematosus: report of seven adult cases from a single Italian rheumatology center. 61
29976044 2018
13
Langerhans cell histiocytosis and primary hemophagocytic lymphohistiocytosis with persistent clonal T-large granular lymphocyte proliferation. 61
29582110 2018
14
Neutralization of IFN-γ reverts clinical and laboratory features in a mouse model of macrophage activation syndrome. 61
28807602 2018
15
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China. 61
29357941 2018
16
X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis. 61
28816794 2017
17
Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites. 61
28403691 2017
18
Primary Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome: The Importance of Timely Clinical Differentiation. 61
28838727 2017
19
Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome. 61
28807357 2017
20
Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH. 61
28270454 2017
21
Successful haploidentical stem cell transplantation for three adults with primary hemophagocytic lymphohistiocytosis. 61
27775696 2017
22
Therapeutic plasma exchange in primary hemophagocytic lymphohistiocytosis: Reports of two cases and a review of the literature. 61
27743708 2016
23
[The significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis]. 61
27535855 2016
24
Symptomatic Primary Selective IgM Immunodeficiency - B Lymphoid Cell Defect in Adult Man with Secondary HLH Syndrome. 61
27759358 2016
25
Mouse Cytomegalovirus Infection in BALB/c Mice Resembles Virus-Associated Secondary Hemophagocytic Lymphohistiocytosis and Shows a Pathogenesis Distinct from Primary Hemophagocytic Lymphohistiocytosis. 61
26903481 2016
26
A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis. 61
26880764 2016
27
[Macrovesicular hepatic steatosis revealing pregnancy hemophagocytic lymphohistiocytosis]. 61
25304169 2015
28
Prognostic Factors and Long-Term Outcome in 52 Turkish Children With Hemophagocytic Lymphohistiocytosis. 61
25901543 2015
29
Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden. 61
25382070 2015
30
Hemophagocytic lymphohistiocytosis: a case series of a Brazilian institution. 61
25453655 2014
31
Risk for complications in patients with hemophagocytic lymphohistiocytosis who undergo hematopoietic stem cell transplantation: myeloablative versus reduced-intensity conditioning regimens. 61
24871821 2014
32
Fludarabine-based reduced-intensity conditioning regimen for hematopoietic stem cell transplantation in primary hemophagocytic lymphohistiocytosis. 61
24330187 2014
33
Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood. 61
25233452 2014
34
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning. 61
24795715 2014
35
Defective UNC13D gene-associated familial hemophagocytic lymphohistiocytosis triggered by visceral leishmaniasis: a diagnostic challenge. 61
23774160 2014
36
Feasibility of reduced-intensity conditioning followed by unrelated cord blood transplantation for primary hemophagocytic lymphohistiocytosis: a nationwide retrospective analysis in Japan. 61
23843148 2013
37
Increased complications and morbidity in children with hemophagocytic lymphohistiocytosis undergoing hematopoietic stem cell transplantation. 61
23331022 2013
38
Demonstration of type II latency in T lymphocytes of Epstein-Barr Virus-associated hemophagocytic lymphohistiocytosis. 61
22961815 2013
39
Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice. 61
24379813 2013
40
CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis. 61
22422896 2012
41
Primary hemophagocytic lymphohistiocytosis in Iran: report from a single referral center. 61
22475297 2012
42
[The study of gene mutations in unknown refractory viral infection and primary hemophagocytic lymphohistiocytosis]. 61
21600143 2011
43
Clinical and laboratory data of primary hemophagocytic lymphohistiocytosis: A retrospective review of the Turkish Histiocyte Study Group. 61
27263739 2010
44
Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children. 61
19131769 2008
45
Central nervous system involvement in Turkish children with primary hemophagocytic lymphohistiocytosis. 61
18984839 2008
46
Myelofibrosis in a patient with familial hemophagocytic lymphohistiocytosis. 61
18253962 2008
47
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 61
16278825 2006
48
Macrophage activation syndrome: characteristic findings on liver biopsy illustrating the key role of activated, IFN-gamma-producing lymphocytes and IL-6- and TNF-alpha-producing macrophages. 61
15466922 2005
49
Primary hemophagocytic lymphohistiocytosis in Turkish children. 61
12775534 2003
50
Successful engraftment and stable full donor chimerism after myeloablation with thiotepa, fludarabine, and melphalan and CD34-selected peripheral allogeneic stem cell transplantation in hemophagocytic lymphohistiocytosis. 61
12555220 2003

Variations for Primary Hemophagocytic Lymphohistiocytosis

Expression for Primary Hemophagocytic Lymphohistiocytosis

Search GEO for disease gene expression data for Primary Hemophagocytic Lymphohistiocytosis.

Pathways for Primary Hemophagocytic Lymphohistiocytosis

Pathways related to Primary Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.16 UNC13D RAB27A
2 9.7 UNC13D RAB27A

GO Terms for Primary Hemophagocytic Lymphohistiocytosis

Cellular components related to Primary Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.33 UNC13D RAB27A PRF1
2 late endosome GO:0005770 9.26 UNC13D RAB27A
3 exocytic vesicle GO:0070382 8.96 UNC13D RAB27A
4 Weibel-Palade body GO:0033093 8.62 UNC13D RAB27A

Biological processes related to Primary Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exocytosis GO:0006887 9.33 UNC13D STX11 RAB27A
2 defense response to virus GO:0051607 9.32 UNC13D PRF1
3 positive regulation of exocytosis GO:0045921 9.26 UNC13D RAB27A
4 natural killer cell degranulation GO:0043320 8.96 UNC13D RAB27A
5 positive regulation of regulated secretory pathway GO:1903307 8.62 UNC13D RAB27A

Sources for Primary Hemophagocytic Lymphohistiocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....