Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
FEL
MCID: HMP002
MIFTS: 68

Hemophagocytic Lymphohistiocytosis (FEL)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

About this section

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis:

Name: Hemophagocytic Lymphohistiocytosis 39 12 77 54 15
Familial Hemophagocytic Lymphohistiocytosis 54 26 60 38 30 56 6
Familial Erythrophagocytic Lymphohistiocytosis 54 26
Familial Hemophagocytic Lymphocytosis 26 74
Lymphohistiocytosis, Hemophagocytic 45 74
Hemophagocytic Syndrome 26 74
Fhl 54 26
Primary Hemophagocytic Hymphohistiocytosis 26
Familial Hemophagocytic Histiocytosis 26
Familial Hemophagocytic Reticulosis 26
Lymphohistiocytosis Hemophagocytic 56
Familial Histiocytic Reticulosis 54
Haemophagocytic Syndrome 12
Familial Hlh 60
Fhlh 26
Hplh 26
Fel 26
Hlh 54

Characteristics:

Orphanet epidemiological data:

60
familial hemophagocytic lymphohistiocytosis
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Adolescent,Infancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Blood diseases Neuronal diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0050120
KEGG 38 H00109
MeSH 45 D051359
NCIt 51 C34792
ICD10 34 D76.1
ICD10 via Orphanet 35 D76.1
UMLS via Orphanet 75 C0272199
Orphanet 60 ORPHA540
Sources

Summaries for Hemophagocytic Lymphohistiocytosis

About this section
NIH Rare Diseases : 54 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. Symptoms may include fever, enlarged liver or spleen, cytopenia (decreased 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 as 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. When HLH results from an inappropriate immune response to Epstein-Barr virus or another viral illness, it may be due to a separate genetic condition called X-linked lymphoproliferative disease (XLP). XLP is caused by a mutation in the SH2D1A or XIAP gene and is inherited in an X-linked manner.

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, also known as familial hemophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis, familial, 4 and lymphoproliferative syndrome, x-linked, 1, and has symptoms including seizures, ataxia and hemiplegia. An important gene associated with Hemophagocytic Lymphohistiocytosis is UNC13D (Unc-13 Homolog D), and among its related pathways/superpathways are Allograft rejection and Immune response NFAT in immune response. The drugs Dexamethasone acetate and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include t cells, liver and spleen, and related phenotypes are hematopoietic system and cellular

Disease Ontology : 12 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 : 26 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 : 77 Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British... more...

Sources

Related Diseases for Hemophagocytic Lymphohistiocytosis

About this section

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

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

(show top 50) (show all 444)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 4 34.8 FHL2 RAB27A STX11 STXBP2 UNC13D
2 lymphoproliferative syndrome, x-linked, 1 33.3 FHL2 SH2D1A STXBP2 XIAP
3 lymphoproliferative syndrome, x-linked, 2 33.1 SH2D1A STXBP2 XIAP
4 macrophage activation syndrome 32.9 PRF1 RAB27A TNF UNC13D
5 lymphoproliferative syndrome 1 32.7 ITK SH2D1A
6 griscelli syndrome 30.9 LYST RAB27A UNC13D
7 systemic onset juvenile idiopathic arthritis 30.8 IL18 PRF1 TNF
8 lymphoproliferative syndrome 30.7 ITK PRF1 SH2D1A XIAP
9 lymphadenitis 30.6 IFNG IL18 TNF
10 chediak-higashi syndrome 30.5 LAMP1 LYST RAB27A UNC13D
11 brucellosis 30.5 IFNG IL18 IL2RA TNF
12 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 30.5 IFNG IL2RA SH2D1A
13 aplastic anemia 30.5 IFNG PRF1 SH2D1A TNF
14 cutaneous t cell lymphoma 30.5 GZMB IFNG IL2RA
15 juvenile rheumatoid arthritis 30.4 IL18 IL2RA TNF
16 hermansky-pudlak syndrome 2 30.4 AP3B1 LAMP1
17 graft-versus-host disease 30.4 GZMB IFNG TNF
18 acquired immunodeficiency syndrome 30.4 IFNG IL2RA TNF
19 griscelli syndrome, type 2 30.3 LYST RAB27A UNC13B UNC13D
20 chronic graft versus host disease 30.2 IFNG IL2RA TNF
21 melioidosis 30.2 IFNG IL18 TNF
22 plasmodium falciparum malaria 30.2 IFNG IL18 TNF
23 erythema multiforme 30.2 GZMB IFNG TNF
24 sarcoidosis 1 30.1 IFNG IL18 IL2RA TNF
25 mumps 30.0 IFNG IL2RA TNF
26 autoimmune lymphoproliferative syndrome 30.0 IL2RA PRF1 UNC13D
27 multiple sclerosis 30.0 IFNG IL2RA PRF1 TNF
28 mycobacterium tuberculosis 1 30.0 IFNG IL18 LAMP1 TNF
29 large granular lymphocyte leukemia 30.0 IFNG IL2RA
30 lymphoma, non-hodgkin, familial 29.9 GZMB IL2RA PRF1 SH2D1A XIAP
31 mycoplasma pneumoniae pneumonia 29.9 IFNG IL18 TNF
32 pulmonary sarcoidosis 29.7 IFNG IL18 IL2RA TNF
33 hemophagocytic lymphohistiocytosis, familial, 3 12.9
34 hemophagocytic lymphohistiocytosis, familial, 2 12.9
35 hemophagocytic lymphohistiocytosis, familial, 1 12.8
36 hemophagocytic lymphohistiocytosis, familial, 5 12.7
37 acquired hemophagocytic lymphohistiocytosis associated with malignant disease 12.3
38 hypoplastic left heart syndrome 12.0
39 griscelli syndrome, type 1 11.8
40 langerhans cell histiocytosis 11.7
41 subcutaneous panniculitis-like t-cell lymphoma 11.6
42 capillary leak syndrome 11.6
43 hypoplastic left heart syndrome 1 11.5
44 lymphoproliferative syndrome 2 11.5
45 virus associated hemophagocytic syndrome 11.3
46 lymphoma 10.8
47 leukemia 10.7
48 hematopoietic stem cell transplantation 10.6
49 leishmaniasis 10.6
50 lymphocytic leukemia 10.5

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



Diseases related to Hemophagocytic Lymphohistiocytosis
Sources

Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis

About this section

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis:


seizures, ataxia, hemiplegia, icterus, bulging fontanelle

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.28 AP3B1 IFNG IL18 IL2RA ITK LYST
2 cellular MP:0005384 10.22 AP3B1 IFNG IL18 ITK LAMP1 LYST
3 immune system MP:0005387 10.21 AP3B1 IFNG IL18 IL2RA ITK LYST
4 growth/size/body region MP:0005378 10.2 AP3B1 IFNG IL18 IL2RA LAMP1 LYST
5 homeostasis/metabolism MP:0005376 10.18 AP3B1 IFNG IL18 IL2RA LYST PRF1
6 mortality/aging MP:0010768 10.03 AP3B1 IFNG IL18 IL2RA LAMP1 LYST
7 integument MP:0010771 9.97 AP3B1 IFNG IL18 LAMP1 LYST PRF1
8 no phenotypic analysis MP:0003012 9.7 AP3B1 IFNG LYST SNAP23 STX11 TNF
9 respiratory system MP:0005388 9.5 AP3B1 IFNG IL2RA LYST RAB27A STXBP2
10 vision/eye MP:0005391 9.23 AP3B1 IFNG IL18 IL2RA LYST RAB27A
Sources

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis

About this section

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

(show top 50) (show all 109)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
2
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
3
Hydrocortisone acetate Approved, Vet_approved Phase 3,Phase 2 50-03-3
4
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
5
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
6
Etoposide Approved Phase 3,Phase 2,Not Applicable 33419-42-0 36462
7
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
8
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1 24280-93-1 446541
9
Methotrexate Approved Phase 3,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
10
leucovorin Approved Phase 3,Phase 2,Not Applicable 58-05-9 6006 143
11
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2 50-23-7 5754
12
Prednisolone phosphate Approved, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 302-25-0
13
Methylprednisolone hemisuccinate Approved Phase 3,Phase 2,Phase 1,Not Applicable 2921-57-5
14
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 83-43-2 6741
15
Prednisolone Approved, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 50-24-8 5755
16
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
17
Pegaspargase Approved, Investigational Phase 3 130167-69-0
18
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Not Applicable 59-30-3 6037
19
Prednisolone hemisuccinate Experimental Phase 3,Phase 2,Phase 1,Not Applicable 2920-86-7
20
Doxil Approved June 1999 Phase 3,Phase 2 31703
21 Hydrocortisone-17-butyrate Phase 3,Phase 2
22 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
23 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Not Applicable
24 Antifungal Agents Phase 3,Phase 2,Phase 1,Not Applicable
25 Hydrocortisone hemisuccinate Phase 3,Phase 2
26 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Phase 1,Not Applicable
27 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Not Applicable
28 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
29 Anti-Infective Agents Phase 3,Phase 1,Phase 2,Not Applicable
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
31 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Not Applicable
32 Autonomic Agents Phase 3,Phase 2,Phase 1,Not Applicable
33 BB 1101 Phase 3,Phase 2,Phase 1,Not Applicable
34 Hydrocortisone 17-butyrate 21-propionate Phase 3,Phase 2
35 Peripheral Nervous System Agents Phase 3,Phase 1,Phase 2,Not Applicable
36 Calcineurin Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
37 Antibiotics, Antitubercular Phase 3,Phase 2
38 Folic Acid Antagonists Phase 3,Phase 2,Not Applicable
39 Dermatologic Agents Phase 3,Phase 2,Phase 1,Not Applicable
40 Vitamin B Complex Phase 3,Phase 2,Not Applicable
41 Folate Phase 3,Phase 2,Not Applicable
42 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
43 Hormones Phase 3,Phase 2,Phase 1,Not Applicable
44 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
45 Cyclosporins Phase 3,Phase 2,Phase 1,Not Applicable
46 Antitubercular Agents Phase 3,Phase 2
47 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
48 Etoposide phosphate Phase 3,Phase 2,Not Applicable
49 Vitamin B9 Phase 3,Phase 2,Not Applicable
50 glucocorticoids Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 54)
# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy Followed By Donor Stem Cell Transplant in Treating Patients With Hemophagocytic Lymphohistiocytosis Unknown status NCT00334672 Phase 3 busulfan;cyclophosphamide;cyclosporine;dexamethasone;etoposide;methotrexate;mycophenolate mofetil;therapeutic hydrocortisone
2 Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology Unknown status NCT02862054 Phase 2, Phase 3
3 Treatment Protocol for Hemophagocytic Lymphohistiocytosis 2004 Completed NCT00426101 Phase 3 Dexamethasone;Etoposide;Cyclosporin
4 L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis Recruiting NCT02631109 Phase 3 Pegaspargase;doxorubicin;etoposide;methylprednisolone
5 L-DEP as an Initial Treatment for EBV-HLH Recruiting NCT02912702 Phase 3 Pegaspargase;doxorubicin hydrochloride liposome injection;etoposide;methylprednisolone;Etoposide;dexamethasone
6 DEP-Ru Regimen as a Salvage Therapy for HLH Recruiting NCT03533790 Phase 3 DEP-Ru
7 Study to Assess the Efficacy and Safety of Emapalumab in Primary Haemophagocytic Lymphohistiocytosis Recruiting NCT03312751 Phase 3 Emapalumab
8 A Study to Investigate the Safety and Efficacy of an Anti-IFNγ mAb in Children Affected by Primary Haemophagocytic Lymphohistiocytosis Active, not recruiting NCT01818492 Phase 2, Phase 3
9 Etoposide in the First-line Treatment of Adult EBV-HLH Not yet recruiting NCT03742115 Phase 3 Etoposide;Dexamethasone;Etoposide;IVIG
10 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
11 Low-dose IL-2 ( Interleukin-2) Treatment in Macrophage Activation Syndrome（MAS） Unknown status NCT02569463 Phase 1, Phase 2 Interleukin-2
12 Hybrid Immunotherapy for Hemophagocytic LymphoHistiocytosis Completed NCT01104025 Phase 2 ATG, rabbit;Etoposide;Methotrexate;hydrocortisone;Dexamethasone
13 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Completed NCT01998633 Phase 2
14 Stem Cell Transplant for Immunologic or Histiocytic Disorders Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
15 Tocilizumab and Hemophagocytic Lymphohistiocytosis (HLH) Recruiting NCT02007239 Phase 2 tocilizumab
16 Treatment of Familiar Lymphohistiocytosis Recruiting NCT02472054 Phase 1, Phase 2 Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
17 Alemtuzumab or Tocilizumab in Combination With Etoposide and Dexamethasone for the Treatment of Adult Patients With Hemophagocytic Lymphohistiocytosis Recruiting NCT02385110 Phase 2 Alemtuzumab;Etoposide;Dexamethasone;Methotrexate;Tocilizumab
18 A Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome Recruiting NCT02400463 Phase 2 Ruxolitinib
19 Ruxolitinib Combined With Dexamethasone for HLH Recruiting NCT03795909 Phase 1, Phase 2 Ruxolitinib;Dexamethasone
20 A Study to Investigate the Safety and Efficacy of an Anti-IFN-gamma mAb in Children With Systemic Juvenile Idiopathic Arthritis (sJIA) Developing Macrophage Activation Syndrome/ Secondary Hemophagocytic Lymphohistiocytosis (MAS/sHLH) Recruiting NCT03311854 Phase 2 NI-0501
21 T Cell Depletion for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Recruiting NCT00368355 Phase 2 Ara-C;Cyclophosphamide
22 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
23 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
24 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
25 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
26 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
27 Trial of DA-EPOCH Regimen for NHL With HLH Active, not recruiting NCT01818908 Phase 2 DA-EPOCH
28 Administration of Donor T Cells With the Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
29 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
30 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
31 CASPALLO: Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene Active, not recruiting NCT00710892 Phase 1
32 Children and Adult Hemophagocytic Syndrome (HLHa) Unknown status NCT02113917
33 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;filgrastim;methotrexate
34 New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
35 Transfusion-related EBV Infection Among Allogeneic Stem Cell Transplant Pediatric Recipients Unknown status NCT02505789
36 The Prognostic and Diagnostic Value of Ferritin in Critically Ill Patients With Special Focus on Underlying Hemophagocytic Lymphohistiocytosis Completed NCT02854943
37 Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity Completed NCT01125319 Not Applicable
38 Ceftriaxone in Non-neutropenic Fever Completed NCT01225718
39 Biomarkers in Blood and Tissue Samples From Patients With Epstein-Barr Virus-Positive Hodgkin Lymphoma Completed NCT01490801
40 Diagnostic Biomarkers for Adult Hemophagocytic Lymphohistiocytosis in Critically Ill Patients (HEMICU) Recruiting NCT03510650
41 Study to Evaluate Interferon Gamma (IFNγ) and Other Inflammatory Mediators in Patients With Malignancy-Associated Hemophagocytic Lymphohistiocytosis (M-HLH) Recruiting NCT03259230
42 Prospective Cohort for Adult Hemophagocytosis Recruiting NCT03117010 Steroids;Etoposide
43 Long-term Follow-up of HLH Patients Who Received Treatment With NI-0501, an Anti-interferon Gamma Monoclonal Antibody Recruiting NCT02069899 Not Applicable NI-0501
44 Intensive Care Unit and Secondary and Primary Immune Deficiency Recruiting NCT02888535
45 Early Detection of Epstein-Barr Virus Related Disease. Recruiting NCT03546101
46 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
47 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
48 Methylprednisolone for Children With Severe Mycoplasma Pneumoniae Pneumonia (MCMP) Recruiting NCT02303587 Not Applicable methylprednisolone
49 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
50 Retrospective Study of Immunotherapy Related Toxicities in Children and Adults With Cancer Active, not recruiting NCT03827343

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
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) PMIDs: 10430905

Cochrane evidence based reviews: lymphohistiocytosis, hemophagocytic

Sources

Genetic Tests for Hemophagocytic Lymphohistiocytosis

About this section

Genetic tests related to Hemophagocytic Lymphohistiocytosis:

# Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 30
Sources

Anatomical Context for Hemophagocytic Lymphohistiocytosis

About this section

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:

42
T Cells, Liver, Spleen, B Cells, Bone, Bone Marrow, Monocytes
Sources

Publications for Hemophagocytic Lymphohistiocytosis

About this section

Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 1425)
# Title Authors Year
1
Acute Respiratory Distress Syndrome Secondary to Histoplasmosis-induced Hemophagocytic Lymphohistiocytosis. ( 30777313 )
2019
2
Secondary Hemophagocytic Lymphohistiocytosis: A Challenging Diagnosis in a Patient with Autoimmune Hepatitis. ( 30863647 )
2019
3
Hemophagocytic Lymphohistiocytosis in Dermatomyositis ( 30457107 )
2019
4
Human ehrlichiosis at a tertiary-care academic medical center: Clinical associations and outcomes of transplant patients and patients with hemophagocytic lymphohistiocytosis. ( 30913447 )
2019
5
Hemophagocytic lymphohistiocytosis is a sign of poor outcome in pediatric Epstein-Barr virus-associated post-transplant lymphoproliferative disease after allogeneic hematopoietic stem cell transplantation. ( 30417487 )
2019
6
Pembrolizumab-induced Autoimmune Hemolytic Anemia and Hemophagocytic Lymphohistiocytosis in Non-small Cell Lung Cancer. ( 30828042 )
2019
7
Treatment of refractory hemophagocytic lymphohistiocytosis with emapalumab despite severe concurrent infections. ( 30617216 )
2019
8
Chronic active EBV infection associated with NK cell lymphoma and hemophagocytic lymphohistiocytosis in a 27-year-old woman: A case report. ( 30633196 )
2019
9
Case Report: Hemophagocytic Lymphohistiocytosis Caused by Disseminated Histoplasmosis in a Venezuelan Patient with HIV and Epstein-Barr Virus Reactivation Who Traveled to Japan. ( 30652668 )
2019
10
A rare case of hepatosplenic gamma-delta T-cell lymphoma and secondary hemophagocytic lymphohistiocytosis. ( 30656034 )
2019
11
Hemophagocytic lymphohistiocytosis secondary to pembrolizumab treatment with insufficient response to high-dose steroids. ( 30668880 )
2019
12
Soluble ST2 and CD163 as Potential Biomarkers to Differentiate Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome. ( 30671214 )
2019
13
Specific sequences of infectious challenge lead to secondary hemophagocytic lymphohistiocytosis-like disease in mice. ( 30674681 )
2019
14
Hemophagocytic lymphohistiocytosis followed by an episode of peritoneal dialysis associated peritonitis: a case report. ( 30696397 )
2019
15
Recognition of hemophagocytic lymphohistiocytosis in sickle cell vasoocclusive crises is a potentially lifesaving diagnosis. ( 30705096 )
2019
16
Identification of a novel CCDC22 mutation in a patient with severe Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia. ( 30706328 )
2019
17
A Review of Neuropathological Features of Familial and Adult Hemophagocytic Lymphohistiocytosis. ( 30726926 )
2019
18
Central nervous system-restricted familial hemophagocytic lymphohistiocytosis responds to hematopoietic cell transplantation. ( 30760465 )
2019
19
Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome. ( 30764840 )
2019
20
Clinical characteristics of extranodal NK/T-cell lymphoma-associated hemophagocytic lymphohistiocytosis. ( 30774427 )
2019
21
Requirement for etoposide in the treatment of pregnancy related hemophagocytic lymphohistiocytosis: a multicenter retrospective study. ( 30777105 )
2019
22
Successful Management of Late-Onset Cytomegalovirus-Induced Hemophagocytic Lymphohistiocytosis in Kidney Transplant Recipient After Coronary Artery Bypass Graft Surgery. ( 30777556 )
2019
23
Liver Transplant in a Patient With Hemophagocytic Lymphohistiocytosis. ( 30777561 )
2019
24
Hemophagocytic Lymphohistiocytosis (HLH) Triggered by Wasp Venom Immunotherapy Is Rare but Noteworthy. ( 30785100 )
2019
25
Factors predicting the recurrence of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children after treatment using the HLH-2004 protocol. ( 30788725 )
2019
26
Posttransplant Hemophagocytic Lymphohistiocytosis Driven by Myeloid Cytokines and Vicious Cycles of T-Cell and Macrophage Activation in Humanized Mice. ( 30814997 )
2019
27
Senescence-accelerated mice (SAMP1/TA-1) treated repeatedly with lipopolysaccharide develop a condition that resembles hemophagocytic lymphohistiocytosis. ( 30819910 )
2019
28
Secondary hemophagocytic lymphohistiocytosis in pediatric patients: a single center experience and factors that influenced patient prognosis. ( 30821552 )
2019
29
Lamotrigine-associated hemophagocytic lymphohistiocytosis. ( 30846511 )
2019
30
Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review. ( 30849948 )
2019
31
Hemophagocytic lymphohistiocytosis as a harbinger of aggressive lymphoma: a case series. ( 30850926 )
2019
32
The Performance of Diagnostic Criteria for Hemophagocytic Lymphohistiocytosis in Critically Ill Patients. ( 30862243 )
2019
33
Severe skin disease in lupus associated with hemophagocytic lymphohistiocytosis: case reports and review of the literature. ( 30886995 )
2019
34
Hemophagocytic Lymphohistiocytosis in Pregnancy: A Case Series and Review of the Current Literature. ( 30891322 )
2019
35
Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis. ( 30899265 )
2019
36
The inhibitory receptors on NK cells and CTLs are upregulated in adult and adolescent patients with secondary hemophagocytic lymphohistiocytosis. ( 30914280 )
2019
37
A Rare Case of Hemophagocytic Lymphohistiocytosis Associated With Myelodysplastic Syndrome and Trisomy 8 in a Pediatric Patient. ( 29683949 )
2019
38
A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis. ( 29702543 )
2019
39
Hemophagocytic Lymphohistiocytosis in a Patient With Multiple Myeloma. ( 30309798 )
2019
40
Bilateral pulmonary nodules and intravascular pulmonary histiocytosis: A rare presentation of hemophagocytic lymphohistiocytosis secondary to Epstein-Barr Virus infection. ( 30456165 )
2019
41
Hemophagocytic lymphohistiocytosis secondary to Babesia in an immunocompetent adult. ( 30478854 )
2019
42
Outcomes in children with hemophagocytic lymphohistiocytosis treated using HLH-2004 protocol in Japan. ( 30535855 )
2019
43
Clinical characteristics and effective treatments of scrub typhus-associated hemophagocytic lymphohistiocytosis in children. ( 30581619 )
2019
44
Outcomes of Children with Hemophagocytic Lymphohistiocytosis Given Allogeneic Hematopoietic Stem Cell Transplantation in Italy. ( 29410181 )
2018
45
Hemophagocytic lymphohistiocytosis. ( 29904309 )
2018
46
Epstein-Barr Virus (EBV)-induced B-cell Lymphoproliferative Disorder Mimicking the Recurrence of EBV-associated Hemophagocytic Lymphohistiocytosis. ( 29324572 )
2018
47
Epstein-Barr Virus-associated Hemophagocytic Lymphohistiocytosis in Adults: A Retrospective Analysis of 23 Patients in China. ( 29431300 )
2018
48
Hemophagocytic Lymphohistiocytosis in Cutaneous T-Cell Lymphoma. ( 29874360 )
2018
49
EBV-associated hemophagocytic lymphohistiocytosis complicated by severe coagulation disorders and opportunistic infections: case report of a survivor. ( 29375849 )
2018
50
The influence of various therapeutic regimens on early clinical and laboratory response and outcome of children with secondary hemophagocytic lymphohistiocytosis. ( 29379544 )
2018
Sources

Variations for Hemophagocytic Lymphohistiocytosis

About this section

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis:

6 (show top 50) (show all 440)
# Gene Variation Type Significance SNP ID Assembly Location
1 UNC13D NM_199242.2(UNC13D): c.1389+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs777759523 GRCh37 Chromosome 17, 73832419: 73832419
2 UNC13D NM_199242.2(UNC13D): c.1389+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs777759523 GRCh38 Chromosome 17, 75836338: 75836338
3 PRF1 NM_001083116.2(PRF1): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs28933973 GRCh37 Chromosome 10, 72358804: 72358804
4 PRF1 NM_001083116.2(PRF1): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs28933973 GRCh38 Chromosome 10, 70599048: 70599048
5 PRF1 NM_001083116.2(PRF1): c.272C> T (p.Ala91Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35947132 GRCh37 Chromosome 10, 72360387: 72360387
6 PRF1 NM_001083116.2(PRF1): c.272C> T (p.Ala91Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35947132 GRCh38 Chromosome 10, 70600631: 70600631
7 PRF1 NM_001083116.2(PRF1): c.11G> A (p.Arg4His) single nucleotide variant Conflicting interpretations of pathogenicity rs35418374 GRCh37 Chromosome 10, 72360648: 72360648
8 PRF1 NM_001083116.2(PRF1): c.11G> A (p.Arg4His) single nucleotide variant Conflicting interpretations of pathogenicity rs35418374 GRCh38 Chromosome 10, 70600892: 70600892
9 UNC13D NM_199242.2(UNC13D): c.1228A> C (p.Ile410Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117221419 GRCh38 Chromosome 17, 75836642: 75836642
10 UNC13D NM_199242.2(UNC13D): c.1228A> C (p.Ile410Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117221419 GRCh37 Chromosome 17, 73832723: 73832723
11 UNC13D NM_199242.2(UNC13D): c.1579C> T (p.Arg527Trp) single nucleotide variant Benign/Likely benign rs75366116 GRCh37 Chromosome 17, 73831953: 73831953
12 UNC13D NM_199242.2(UNC13D): c.1579C> T (p.Arg527Trp) single nucleotide variant Benign/Likely benign rs75366116 GRCh38 Chromosome 17, 75835872: 75835872
13 STX11 NM_003764.3(STX11): c.146G> A (p.Arg49Gln) single nucleotide variant Benign/Likely benign rs17073498 GRCh37 Chromosome 6, 144507910: 144507910
14 STX11 NM_003764.3(STX11): c.146G> A (p.Arg49Gln) single nucleotide variant Benign/Likely benign rs17073498 GRCh38 Chromosome 6, 144186773: 144186773
15 STX11 NM_003764.3(STX11): c.546G> A (p.Glu182=) single nucleotide variant Conflicting interpretations of pathogenicity rs146949718 GRCh37 Chromosome 6, 144508310: 144508310
16 STX11 NM_003764.3(STX11): c.546G> A (p.Glu182=) single nucleotide variant Conflicting interpretations of pathogenicity rs146949718 GRCh38 Chromosome 6, 144187173: 144187173
17 STX11 NM_003764.3(STX11): c.829A> G (p.Thr277Ala) single nucleotide variant Benign/Likely benign rs9496891 GRCh38 Chromosome 6, 144187456: 144187456
18 STX11 NM_003764.3(STX11): c.829A> G (p.Thr277Ala) single nucleotide variant Benign/Likely benign rs9496891 GRCh37 Chromosome 6, 144508593: 144508593
19 PRF1 NM_001083116.2(PRF1): c.900C> T (p.His300=) single nucleotide variant Benign rs885822 GRCh37 Chromosome 10, 72358577: 72358577
20 PRF1 NM_001083116.2(PRF1): c.900C> T (p.His300=) single nucleotide variant Benign rs885822 GRCh38 Chromosome 10, 70598821: 70598821
21 PRF1 NM_001083116.2(PRF1): c.822C> T (p.Ala274=) single nucleotide variant Benign/Likely benign rs885821 GRCh37 Chromosome 10, 72358655: 72358655
22 PRF1 NM_001083116.2(PRF1): c.822C> T (p.Ala274=) single nucleotide variant Benign/Likely benign rs885821 GRCh38 Chromosome 10, 70598899: 70598899
23 PRF1 NM_001083116.2(PRF1): c.630C> T (p.Pro210=) single nucleotide variant Conflicting interpretations of pathogenicity rs144004164 GRCh38 Chromosome 10, 70599091: 70599091
24 PRF1 NM_001083116.2(PRF1): c.630C> T (p.Pro210=) single nucleotide variant Conflicting interpretations of pathogenicity rs144004164 GRCh37 Chromosome 10, 72358847: 72358847
25 PRF1 NM_001083116.2(PRF1): c.462A> G (p.Ala154=) single nucleotide variant Conflicting interpretations of pathogenicity rs116554195 GRCh38 Chromosome 10, 70600441: 70600441
26 PRF1 NM_001083116.2(PRF1): c.462A> G (p.Ala154=) single nucleotide variant Conflicting interpretations of pathogenicity rs116554195 GRCh37 Chromosome 10, 72360197: 72360197
27 UNC13D NM_199242.2(UNC13D): c.3252T> C (p.His1084=) single nucleotide variant Benign/Likely benign rs61753922 GRCh38 Chromosome 17, 75827986: 75827986
28 UNC13D NM_199242.2(UNC13D): c.3252T> C (p.His1084=) single nucleotide variant Benign/Likely benign rs61753922 GRCh37 Chromosome 17, 73824067: 73824067
29 UNC13D NM_199242.2(UNC13D): c.3198A> G (p.Glu1066=) single nucleotide variant Benign rs7210574 GRCh38 Chromosome 17, 75828040: 75828040
30 UNC13D NM_199242.2(UNC13D): c.3198A> G (p.Glu1066=) single nucleotide variant Benign rs7210574 GRCh37 Chromosome 17, 73824121: 73824121
31 UNC13D NM_199242.2(UNC13D): c.3078C> T (p.Pro1026=) single nucleotide variant Conflicting interpretations of pathogenicity rs372034111 GRCh38 Chromosome 17, 75828860: 75828860
32 UNC13D NM_199242.2(UNC13D): c.3078C> T (p.Pro1026=) single nucleotide variant Conflicting interpretations of pathogenicity rs372034111 GRCh37 Chromosome 17, 73824941: 73824941
33 UNC13D NM_199242.2(UNC13D): c.2943G> A (p.Glu981=) single nucleotide variant Benign/Likely benign rs35628234 GRCh38 Chromosome 17, 75830039: 75830039
34 UNC13D NM_199242.2(UNC13D): c.2943G> A (p.Glu981=) single nucleotide variant Benign/Likely benign rs35628234 GRCh37 Chromosome 17, 73826120: 73826120
35 UNC13D NM_199242.2(UNC13D): c.2896C> T (p.Arg966Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs118049905 GRCh37 Chromosome 17, 73826167: 73826167
36 UNC13D NM_199242.2(UNC13D): c.2896C> T (p.Arg966Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs118049905 GRCh38 Chromosome 17, 75830086: 75830086
37 UNC13D NM_199242.2(UNC13D): c.2782C> T (p.Arg928Cys) single nucleotide variant Benign/Likely benign rs35037984 GRCh38 Chromosome 17, 75830410: 75830410
38 UNC13D NM_199242.2(UNC13D): c.2782C> T (p.Arg928Cys) single nucleotide variant Benign/Likely benign rs35037984 GRCh37 Chromosome 17, 73826491: 73826491
39 UNC13D NM_199242.2(UNC13D): c.2599A> G (p.Lys867Glu) single nucleotide variant Benign rs1135688 GRCh38 Chromosome 17, 75831124: 75831124
40 UNC13D NM_199242.2(UNC13D): c.2599A> G (p.Lys867Glu) single nucleotide variant Benign rs1135688 GRCh37 Chromosome 17, 73827205: 73827205
41 UNC13D NM_199242.2(UNC13D): c.2448-8dupC duplication Benign rs3217698 GRCh37 Chromosome 17, 73827437: 73827437
42 UNC13D NM_199242.2(UNC13D): c.2448-8dupC duplication Benign rs3217698 GRCh38 Chromosome 17, 75831356: 75831356
43 UNC13D NM_199242.2(UNC13D): c.2298+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs112341334 GRCh37 Chromosome 17, 73830391: 73830391
44 UNC13D NM_199242.2(UNC13D): c.2298+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs112341334 GRCh38 Chromosome 17, 75834310: 75834310
45 UNC13D NM_199242.2(UNC13D): c.2052C> G (p.Leu684=) single nucleotide variant Conflicting interpretations of pathogenicity rs150861045 GRCh38 Chromosome 17, 75834657: 75834657
46 UNC13D NM_199242.2(UNC13D): c.2052C> G (p.Leu684=) single nucleotide variant Conflicting interpretations of pathogenicity rs150861045 GRCh37 Chromosome 17, 73830738: 73830738
47 UNC13D NM_199242.2(UNC13D): c.1992+5G> A single nucleotide variant Benign/Likely benign rs17581728 GRCh38 Chromosome 17, 75834915: 75834915
48 UNC13D NM_199242.2(UNC13D): c.1992+5G> A single nucleotide variant Benign/Likely benign rs17581728 GRCh37 Chromosome 17, 73830996: 73830996
49 UNC13D NM_199242.2(UNC13D): c.1977C> T (p.Thr659=) single nucleotide variant Benign/Likely benign rs2290770 GRCh37 Chromosome 17, 73831016: 73831016
50 UNC13D NM_199242.2(UNC13D): c.1977C> T (p.Thr659=) single nucleotide variant Benign/Likely benign rs2290770 GRCh38 Chromosome 17, 75834935: 75834935
Sources

Expression for Hemophagocytic Lymphohistiocytosis

About this section
Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis.
Sources

Pathways for Hemophagocytic Lymphohistiocytosis

About this section

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Allograft rejection 1 38
Show member pathways
 12.61 GZMB IFNG IL18 IL2RA ITK PRF1
2
Immune response NFAT in immune response 23
Show member pathways
 12.49 IFNG IL18 IL2RA ITK TNF
3
Influenza A 38
Show member pathways
 12.46 IFNG IL18 IL2RA SH2D1A TNF
4
Immune response Role of DAP12 receptors in NK cells 23
Show member pathways
 12.35 GZMB IFNG PRF1 SH2D1A TNF
5
NF-kappaB Signaling 4
12.25 GZMB IFNG IL2RA ITK SH2D1A TNF
6
Apoptosis and survival Caspase cascade 23
Show member pathways
 12.14 GZMB PRF1 TNF XIAP
7
Tuberculosis 38
12.1 IFNG IL18 LAMP1 TNF
8
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.8 IFNG IL2RA LAMP1 TNF
9
IL12-mediated signaling events 1
Show member pathways
 11.76 GZMB IFNG IL18 IL2RA
10
Rheumatoid arthritis 38
11.73 IFNG IL18 TNF
11
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.62 IFNG IL2RA TNF
12
Microglia Activation During Neuroinflammation: Microglia Polarization 66
11.59 IFNG IL18 TNF
13
Malaria 38
11.39 IFNG IL18 TNF
14
MSP-RON Signaling 65
11.37 IFNG IL18 TNF
15
Innate Lymphoid Cell Differentiation Pathways 66
11.26 GZMB IFNG IL18 IL2RA TNF
16
African trypanosomiasis 38
11.24 IFNG IL18 TNF
17
Development and heterogeneity of the ILC family 1
11.14 IFNG IL18 TNF
18
Immune response_IL-12 signaling pathway 23
Show member pathways
 11.01 IFNG IL2RA PRF1
19
IL12 signaling mediated by STAT4 1
10.9 IFNG IL18 IL2RA PRF1
20
Deregulation of Rab and Rab Effector Genes in Bladder Cancer 1
10.81 RAB27A UNC13D
21
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 10.81 GZMB IFNG IL2RA PRF1 TNF
22
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) 23
10.67 RAB27A UNC13D
Sources

GO Terms for Hemophagocytic Lymphohistiocytosis

About this section

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

# Name GO ID Score Top Affiliating Genes
1 specific granule GO:0042581 9.26 SNAP23 STXBP2
2 azurophil granule GO:0042582 9.16 SNAP23 STXBP2
3 Weibel-Palade body GO:0033093 8.96 RAB27A UNC13D
4 cytolytic granule GO:0044194 8.8 LAMP1 PRF1 STXBP2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.93 LAMP1 RAB27A SNAP23 STXBP2 UNC13D
2 vesicle-mediated transport GO:0016192 9.88 AP3B1 RAB27A STX11 STXBP2
3 defense response to virus GO:0051607 9.78 IFNG LYST PRF1 UNC13D
4 cellular defense response GO:0006968 9.69 ITK PRF1 SH2D1A
5 humoral immune response GO:0006959 9.67 IFNG SH2D1A TNF
6 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.59 IFNG TNF
7 regulation of regulatory T cell differentiation GO:0045589 9.58 IFNG IL2RA
8 synaptic vesicle priming GO:0016082 9.57 SNAP23 UNC13B
9 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.56 SNAP23 STX11
10 interferon-gamma production GO:0032609 9.55 IL18 ITK
11 regulation of mast cell degranulation GO:0043304 9.52 STXBP2 UNC13D
12 granzyme-mediated apoptotic signaling pathway GO:0008626 9.46 GZMB LAMP1
13 natural killer cell degranulation GO:0043320 9.43 RAB27A UNC13D
14 positive regulation of neuroinflammatory response GO:0150078 9.4 IL18 TNF
15 positive regulation of regulated secretory pathway GO:1903307 9.37 RAB27A UNC13D
16 positive regulation of killing of cells of other organism GO:0051712 9.32 IFNG PRF1
17 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.26 IFNG TNF
18 positive regulation of vitamin D biosynthetic process GO:0060557 9.16 IFNG TNF
19 natural killer cell mediated cytotoxicity GO:0042267 9.13 GZMB IL18 LYST
20 exocytosis GO:0006887 9.1 RAB27A SNAP23 STX11 STXBP2 UNC13B UNC13D

Molecular functions related to Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 FHL2 GZMB IFNG IL18 IL2RA ITK
Sources

Sources for Hemophagocytic Lymphohistiocytosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....