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FEL
MCID: HMP002
MIFTS: 69

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
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Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

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MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis:

Name: Hemophagocytic Lymphohistiocytosis 38 12 76 53 15
Familial Hemophagocytic Lymphohistiocytosis 53 25 59 37 29 55 6
Hemophagocytic Syndrome 12 25 73
Familial Erythrophagocytic Lymphohistiocytosis 53 25
Familial Hemophagocytic Lymphocytosis 25 73
Lymphohistiocytosis, Hemophagocytic 44 73
Fhl 53 25
Hps 12 3
Primary Hemophagocytic Hymphohistiocytosis 25
Familial Hemophagocytic Histiocytosis 25
Familial Hemophagocytic Reticulosis 25
Lymphohistiocytosis Hemophagocytic 55
Familial Histiocytic Reticulosis 53
Haemophagocytic Syndrome 12
Familial Hlh 59
Fhlh 25
Hplh 25
Fel 25
Hlh 53

Characteristics:

Orphanet epidemiological data:

59
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: 33 34
Orphanet: 59  
Rare neurological diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0050120
ICD10 33 D76.1
MeSH 44 D051359
NCIt 50 C34792
Orphanet 59 ORPHA540
UMLS via Orphanet 74 C0272199
ICD10 via Orphanet 34 D76.1
KEGG 37 H00109
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Summaries for Hemophagocytic Lymphohistiocytosis

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NIH Rare Diseases : 53 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 Influenza A. The drugs Mycophenolic acid and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include t cells, liver and spleen, and related phenotypes are hematopoietic system and immune system

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 : 25 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.

CDC : 3 Infection with hantavirus can progress to Hantavirus Pulmonary Syndrome (HPS), which can be fatal. People become infected through contact with hantavirus-infected rodents or their urine and droppings. The Sin Nombre hantavirus, first recognized in 1993, is one of several New World hantaviruses circulating in the US. Old World hantaviruses, including Seoul virus, are found across the world and can cause Hemorrhagic Fever with Renal Syndrome (HFRS). Rodent control in and around the home remains the primary strategy for preventing hantavirus infection. All cases of Hantavirus infection are reported to the CDC.

Wikipedia : 76 Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British... more...

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Related Diseases for Hemophagocytic Lymphohistiocytosis

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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 486)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 4 34.7 FHL2 RAB27A STX11 STXBP2 UNC13D
2 lymphoproliferative syndrome, x-linked, 1 33.1 FHL2 SH2D1A STXBP2 XIAP
3 lymphoproliferative syndrome, x-linked, 2 32.9 SH2D1A STXBP2 XIAP
4 macrophage activation syndrome 32.8 PRF1 RAB27A TNF UNC13D
5 griscelli syndrome, type 2 32.7 LYST RAB27A UNC13B UNC13D
6 griscelli syndrome 30.8 LYST RAB27A UNC13D
7 lymphadenitis 30.6 IFNG IL18 TNF
8 brucellosis 30.5 IFNG IL18 IL2RA TNF
9 lymphoproliferative syndrome 30.5 PRF1 SH2D1A XIAP
10 aplastic anemia 30.5 IFNG PRF1 SH2D1A TNF
11 chediak-higashi syndrome 30.5 LAMP1 LYST RAB27A UNC13D
12 systemic onset juvenile idiopathic arthritis 30.5 PRF1 TNF
13 juvenile rheumatoid arthritis 30.4 IL18 IL2RA TNF
14 cutaneous t cell lymphoma 30.4 GZMB IFNG IL2RA
15 graft-versus-host disease 30.4 GZMB IFNG TNF
16 acquired immunodeficiency syndrome 30.4 IFNG IL2RA TNF
17 hermansky-pudlak syndrome 2 30.2 AP3B1 LAMP1
18 chronic graft versus host disease 30.2 IFNG IL2RA TNF
19 melioidosis 30.2 IFNG IL18 TNF
20 erythema multiforme 30.2 GZMB IFNG TNF
21 sarcoidosis 1 30.1 IFNG IL18 IL2RA TNF
22 autoimmune lymphoproliferative syndrome 30.1 IL2RA PRF1 UNC13D
23 mycobacterium tuberculosis 1 30.1 IFNG IL18 LAMP1 TNF
24 mumps 30.0 IFNG IL2RA TNF
25 uveitis 30.0 IFNG IL2RA TNF
26 large granular lymphocyte leukemia 29.8 IFNG IL2RA
27 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 29.8 IFNG IL2RA SH2D1A
28 mycoplasma pneumoniae pneumonia 29.8 IFNG IL18 TNF
29 lymphoma, non-hodgkin, familial 29.8 CD5 GZMB IL2RA PRF1 SH2D1A XIAP
30 pulmonary sarcoidosis 29.7 IFNG IL18 IL2RA TNF
31 hemophagocytic lymphohistiocytosis, familial, 3 12.9
32 hemophagocytic lymphohistiocytosis, familial, 2 12.8
33 hemophagocytic lymphohistiocytosis, familial, 1 12.8
34 hemophagocytic lymphohistiocytosis, familial, 5 12.7
35 acquired hemophagocytic lymphohistiocytosis associated with malignant disease 12.3
36 hemophagocytic syndrome associated with an infection 12.2
37 hantavirus pulmonary syndrome 12.1
38 hypoplastic left heart syndrome 12.0
39 griscelli syndrome, type 1 11.8
40 pancreatitis, hereditary 11.7
41 extrinsic allergic alveolitis 11.7
42 langerhans cell histiocytosis 11.6
43 capillary leak syndrome 11.6
44 hepatopulmonary syndrome 11.6
45 hypoplastic left heart syndrome 1 11.5
46 lymphoproliferative syndrome 1 11.4
47 lymphoproliferative syndrome 2 11.4
48 virus associated hemophagocytic syndrome 11.3
49 hermansky-pudlak syndrome 7 11.3
50 hermansky-pudlak syndrome 1 11.1

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



Diseases related to Hemophagocytic Lymphohistiocytosis
Sources

Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis

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UMLS symptoms related to Hemophagocytic Lymphohistiocytosis:


seizures, ataxia, hemiplegia, bulging fontanelle, icterus

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.3 AP3B1 CD5 IFNG IL18 IL2RA LYST
2 immune system MP:0005387 10.25 AP3B1 CD5 IFNG IL18 IL2RA LYST
3 growth/size/body region MP:0005378 10.22 AP3B1 IFNG IL18 IL2RA LAMP1 LYST
4 homeostasis/metabolism MP:0005376 10.21 AP3B1 IFNG IL18 IL2RA LYST PRF1
5 mortality/aging MP:0010768 10.1 AP3B1 IFNG IL18 IL2RA LAMP1 LYST
6 integument MP:0010771 10.07 AP3B1 CD5 IFNG IL18 LAMP1 LYST
7 nervous system MP:0003631 10 AP3B1 CD5 IFNG IL18 LAMP1 LYST
8 no phenotypic analysis MP:0003012 9.76 AP3B1 CD5 IFNG LYST SNAP23 STX11
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

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

(show top 50) (show all 100)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1 24280-93-1 446541
2
Methotrexate Approved Phase 3,Phase 2,Not Applicable 59-05-2, 1959-05-2 126941
3
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
4
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Not Applicable 6055-19-2, 50-18-0 2907
5
Hydrocortisone acetate Approved, Vet_approved Phase 3,Phase 2 50-03-3
6
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 55-98-1 2478
7
Etoposide Approved Phase 3,Phase 2,Not Applicable 33419-42-0 36462
8
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2 50-23-7 5754
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 1177-87-3
10
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 50-02-2 5743
11
leucovorin Approved Phase 3,Phase 2,Not Applicable 58-05-9 6006 143
12
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
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 phosphate Approved, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 302-25-0
16
Prednisolone Approved, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 50-24-8 5755
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
Doxil Approved June 1999 Phase 3,Phase 2 31703
20
Prednisolone hemisuccinate Experimental Phase 3,Phase 2,Phase 1,Not Applicable 2920-86-7
21 Hydrocortisone 17-butyrate 21-propionate Phase 3,Phase 2
22 Hydrocortisone-17-butyrate Phase 3,Phase 2
23 Peripheral Nervous System Agents Phase 3,Phase 1,Phase 2,Not Applicable
24 Anti-Bacterial Agents Phase 3,Phase 2
25 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
26 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
27 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
28 Etoposide phosphate Phase 3,Phase 2,Not Applicable
29 Hormones Phase 3,Phase 2,Phase 1,Not Applicable
30 Vitamin B Complex Phase 3,Phase 2,Not Applicable
31 Anti-Infective Agents Phase 3,Phase 1,Phase 2,Not Applicable
32 Autonomic Agents Phase 3,Phase 2,Phase 1,Not Applicable
33 BB 1101 Phase 3,Phase 2,Not Applicable
34 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
35 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Not Applicable
36 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Phase 1,Not Applicable
37 Cortisol succinate Phase 3,Phase 2
38 Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
39 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
40 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Not Applicable
41 Topoisomerase Inhibitors Phase 3,Phase 2,Not Applicable
42 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
43 Antibiotics, Antitubercular Phase 3,Phase 2
44 Antiemetics Phase 3,Phase 2,Phase 1,Not Applicable
45 Antitubercular Agents Phase 3,Phase 2
46 Vitamin B9 Phase 3,Phase 2,Not Applicable
47 Folate Phase 3,Phase 2,Not Applicable
48 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Not Applicable
49 Cyclosporins Phase 3,Phase 2,Phase 1,Not Applicable
50 Antifungal Agents Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 51)
# 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 A Study to Investigate the Safety and Efficacy of an Anti-IFNγ mAb in Children Affected by Primary Haemophagocytic Lymphohistiocytosis Recruiting NCT01818492 Phase 2, Phase 3
8 Study to Assess the Efficacy and Safety of Emapalumab in Primary Haemophagocytic Lymphohistiocytosis Recruiting NCT03312751 Phase 3 Emapalumab
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 Trial of DA-EPOCH Regimen for NHL With HLH Unknown status NCT01818908 Phase 2 DA-EPOCH
12 Low-dose IL-2 ( Interleukin-2) Treatment in Macrophage Activation Syndrome（MAS） Unknown status NCT02569463 Phase 1, Phase 2 Interleukin-2
13 Hybrid Immunotherapy for Hemophagocytic LymphoHistiocytosis Completed NCT01104025 Phase 2 ATG, rabbit;Etoposide;Methotrexate;hydrocortisone;Dexamethasone
14 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Completed NCT01998633 Phase 2
15 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)
16 Tocilizumab and Hemophagocytic Lymphohistiocytosis (HLH) Recruiting NCT02007239 Phase 2 tocilizumab
17 Treatment of Familiar Lymphohistiocytosis Recruiting NCT02472054 Phase 1, Phase 2 Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
18 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
19 A Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome Recruiting NCT02400463 Phase 2 Ruxolitinib
20 Ruxolitinib Combined With Dexamethasone for HLH Recruiting NCT03795909 Phase 1, Phase 2 Ruxolitinib;Dexamethasone
21 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
22 T Cell Depletion for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Recruiting NCT00368355 Phase 2 Ara-C;Cyclophosphamide
23 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
24 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
25 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
26 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
27 Administration of Donor T Cells With the Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
28 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
29 CASPALLO: Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene Active, not recruiting NCT00710892 Phase 1
30 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
31 Children and Adult Hemophagocytic Syndrome (HLHa) Unknown status NCT02113917
32 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
33 New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
34 Transfusion-related EBV Infection Among Allogeneic Stem Cell Transplant Pediatric Recipients Unknown status NCT02505789
35 The Prognostic and Diagnostic Value of Ferritin in Critically Ill Patients With Special Focus on Underlying Hemophagocytic Lymphohistiocytosis Completed NCT02854943
36 Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity Completed NCT01125319 Not Applicable
37 Ceftriaxone in Non-neutropenic Fever Completed NCT01225718
38 Biomarkers in Blood and Tissue Samples From Patients With Epstein-Barr Virus-Positive Hodgkin Lymphoma Completed NCT01490801
39 Diagnostic Biomarkers for Adult Hemophagocytic Lymphohistiocytosis in Critically Ill Patients (HEMICU) Recruiting NCT03510650
40 Study to Evaluate Interferon Gamma (IFNγ) and Other Inflammatory Mediators in Patients With Malignancy-Associated Hemophagocytic Lymphohistiocytosis (M-HLH) Recruiting NCT03259230
41 Prospective Cohort for Adult Hemophagocytosis Recruiting NCT03117010 Steroids;Etoposide
42 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
43 Intensive Care Unit and Secondary and Primary Immune Deficiency Recruiting NCT02888535
44 Early Detection of Epstein-Barr Virus Related Disease. Recruiting NCT03546101
45 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
46 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
47 Methylprednisolone for Children With Severe Mycoplasma Pneumoniae Pneumonia (MCMP) Recruiting NCT02303587 Not Applicable methylprednisolone
48 Surveillance and Tracking the Outcomes of Chronic Latent EBV Infection Not yet recruiting NCT03491605
49 The Iron Content of Ferritin in Serum and Urine of Children With High Serum Ferritin Levels Not yet recruiting NCT03777904
50 Pilot Study of Etoposide-based Therapy and Hematopoietic Cell Transplantation for Hemophagocytic Lymphohistiocytosis Terminated NCT01547143 Not Applicable IST and/or alloHCT

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

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Genetic tests related to Hemophagocytic Lymphohistiocytosis:

# Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 29
Sources

Anatomical Context for Hemophagocytic Lymphohistiocytosis

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MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:

41
T Cells, Liver, Spleen, B Cells, Bone, Bone Marrow, Monocytes
Sources

Publications for Hemophagocytic Lymphohistiocytosis

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Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 1296)
# Title Authors Year
1
Bilateral pulmonary nodules and intravascular pulmonary histiocytosis: A rare presentation of hemophagocytic lymphohistiocytosis secondary to Epstein-Barr Virus infection. ( 30456165 )
2019
2
Outcomes of Children with Hemophagocytic Lymphohistiocytosis Given Allogeneic Hematopoietic Stem Cell Transplantation in Italy. ( 29410181 )
2018
3
Hemophagocytic lymphohistiocytosis. ( 29904309 )
2018
4
Epstein-Barr Virus (EBV)-induced B-cell Lymphoproliferative Disorder Mimicking the Recurrence of EBV-associated Hemophagocytic Lymphohistiocytosis. ( 29324572 )
2018
5
Epstein-Barr Virus-associated Hemophagocytic Lymphohistiocytosis in Adults: A Retrospective Analysis of 23 Patients in China. ( 29431300 )
2018
6
Hemophagocytic Lymphohistiocytosis in Cutaneous T-Cell Lymphoma. ( 29874360 )
2018
7
EBV-associated hemophagocytic lymphohistiocytosis complicated by severe coagulation disorders and opportunistic infections: case report of a survivor. ( 29375849 )
2018
8
The influence of various therapeutic regimens on early clinical and laboratory response and outcome of children with secondary hemophagocytic lymphohistiocytosis. ( 29379544 )
2018
9
Onset of Hemophagocytic Lymphohistiocytosis during Piperacillin-Tazobactam Therapy in Three Children with Acute Focal Bacterial Nephritis. ( 29798969 )
2018
10
A patient with severe fever with thrombocytopenia syndrome and hemophagocytic lymphohistiocytosis-associated involvement of the central nervous system. ( 29138019 )
2018
11
Parvovirus B19-associated Hemophagocytic Lymphohistiocytosis in a Patient With Glucose-6-phosphate Dehydrogenase Deficiency. ( 29432306 )
2018
12
Hemophagocytic Lymphohistiocytosis: A Case Series. ( 29963339 )
2018
13
Peripheral hemophagocytosis: A rapid clue to severe sepsis and hemophagocytic lymphohistiocytosis. ( 29887209 )
2018
14
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome. ( 29524015 )
2018
15
Quantitative PCR Assays of Cytomegalovirus and Epstein-Barr Virus in Hemophagocytic Lymphohistiocytosis. ( 29313310 )
2018
16
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China. ( 29357941 )
2018
17
Dual Threat of Epstein-Barr Virus: an Autopsy Case Report of HIV-Positive Plasmablastic Lymphoma Complicating EBV-Associated Hemophagocytic Lymphohistiocytosis. ( 29687211 )
2018
18
CD8 T Cell Memory Increases Immunopathology in the Perforin-Deficient Model of Hemophagocytic Lymphohistiocytosis Secondary to TNF-I+. ( 29795796 )
2018
19
Pregnancy-related Hemophagocytic Lymphohistiocytosis Associated with Herpes Simplex Virus-2 Infection: A Diagnostic Dilemma. ( 29796364 )
2018
20
Bone marrow histomorphologic criteria can accurately diagnose hemophagocytic lymphohistiocytosis. ( 29903767 )
2018
21
Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report. ( 29783935 )
2018
22
Ruxolitinib as First-Line Treatment in Secondary Hemophagocytic Lymphohistiocytosis: A Second Experience. ( 29417621 )
2018
23
Hemophagocytic lymphohistiocytosis with immunotherapy: brief review and case report. ( 29871698 )
2018
24
Hemophagocytic Lymphohistiocytosis Secondary to T Cell/Histiocyte-rich Large B Cell Lymphoma in an Adolescent Male. ( 29187030 )
2018
25
Hypofibrinogenemia Is Associated With Poor Outcome and Secondary Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in Pediatric Severe Sepsis. ( 29470247 )
2018
26
<i>ALK</i>-Negative Anaplastic Large Cell Lymphoma Presenting as Disseminated Intravascular Coagulation and Hemophagocytic Lymphohistiocytosis: A Potentially Fatal Presentation. ( 29850298 )
2018
27
Haploidentical hematopoietic stem cell transplantation for adult patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. ( 28573910 )
2018
28
Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in adults and adolescents-a life-threatening disease: analysis of 133 cases from a single center. ( 29957156 )
2018
29
Hyperferritinemia in Hemophagocytic Lymphohistiocytosis: A Single Institution Experience in Pediatric Patients. ( 29371779 )
2018
30
Initial Characteristics and Clinical Severity of Hemophagocytic Lymphohistiocytosis in Pediatric Patients Admitted in the Emergency Department. ( 29794953 )
2018
31
Low-Frequency Sensorineural Hearing Loss in Familial Hemophagocytic Lymphohistiocytosis Type 5. ( 29776323 )
2018
32
Hemophagocytic lymphohistiocytosis in adults. ( 29966474 )
2018
33
Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa. ( 29705274 )
2018
34
Successful Treatment of Hemophagocytic Lymphohistiocytosis Associated with Low-risk Myelodysplastic Syndrome by Azacitidine. ( 29780114 )
2018
35
Hemophagocytic Lymphohistiocytosis: A Confusing Problem of the Diagnosis of Visceral Leishmaniasis. ( 29398821 )
2018
36
Infection-associated Hemophagocytic Lymphohistiocytosis: An Unusual Clinical Masquerader. ( 29900092 )
2018
37
Hemophagocytic lymphohistiocytosis (HLH) secondary to disseminated histoplasmosis in the setting of Acquired Immunodeficiency Syndrome (AIDS). ( 29657917 )
2018
38
Suspected thrombotic microangiopathy in a child with Epstein-Barr virus-induced hemophagocytic lymphohistiocytosis. ( 29411928 )
2018
39
Differentiation between incomplete Kawasaki disease and secondary hemophagocytic lymphohistiocytosis following Kawasaki disease using N-terminal pro-brain natriuretic peptide. ( 29853942 )
2018
40
Hemophagocytic Lymphohistiocytosis Secondary to Unknown Underlying Hodgkin Lymphoma Presenting with a Cholestatic Pattern of Liver Injury. ( 29805352 )
2018
41
Hemophagocytic lymphohistiocytosis in an HIV-positive patient with concomitant disseminated histoplasmosis. ( 29433397 )
2018
42
Hemophagocytic lymphohistiocytosis (HLH) presenting as fever of unknown origin and acute liver failure. ( 30191126 )
2018
43
Acute liver failure secondary to severe systemic disease from fatal hemophagocytic lymphohistiocytosis: Case report and systematic literature review. ( 30310541 )
2018
44
Successful rescue of acute liver failure and hemophagocytic lymphohistiocytosis following varicella infection: A case report and review of literature. ( 30430121 )
2018
45
T-cell lymphoma with secondary hemophagocytic lymphohistiocytosis as a rare cause of acute liver failure T-cell lymphoma as a cause of acute liver failure. ( 30553939 )
2018
46
Hemophagocytic lymphohistiocytosis presenting with acute liver failure and central nervous system involvement in early infancy. ( 29676379 )
2018
47
Hemophagocytic lymphohistiocytosis presenting with annular erythema multiforme-like eruptions in a patient with angioimmunoblastic T cell lymphoma: A case report. ( 30186440 )
2018
48
Successful resolution of Hemophagocytic lymphohistiocytosis associated to brucellosis in the adult. ( 30430494 )
2018
49
Sudden Cardiac Arrest Due to Hemophagocytic Lymphohistiocytosis in a Child. ( 30253954 )
2018
50
Severe complication during remission of Crohn's disease: hemophagocytic lymphohistiocytosis due to acute cytomegalovirus infection. ( 29529681 )
2018
Sources

Variations for Hemophagocytic Lymphohistiocytosis

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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

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

Pathways for Hemophagocytic Lymphohistiocytosis

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Allograft rejection 1 37
Show member pathways
 12.71 GZMB IFNG IL18 IL2RA PRF1 TNF
2
Influenza A 37
Show member pathways
 12.66 IFNG IL18 IL2RA SH2D1A TNF
3
NF-kappaB Signaling 4
12.39 GZMB IFNG IL2RA SH2D1A TNF
4
Immune response Role of DAP12 receptors in NK cells 22
Show member pathways
 12.31 GZMB IFNG PRF1 SH2D1A TNF
5
Apoptosis and survival Caspase cascade 22
Show member pathways
 12.13 GZMB PRF1 TNF XIAP
6
Tuberculosis 37
12.09 IFNG IL18 LAMP1 TNF
7
Hematopoietic cell lineage 37
11.76 CD5 IL2RA TNF
8
Rheumatoid arthritis 37
11.72 IFNG IL18 TNF
9
IL12-mediated signaling events 1
Show member pathways
 11.72 GZMB IFNG IL18 IL2RA
10
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.72 CD5 IFNG IL2RA LAMP1 TNF
11
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.61 IFNG IL2RA TNF
12
Microglia Activation During Neuroinflammation: Microglia Polarization 65
11.57 IFNG IL18 TNF
13
Malaria 37
11.39 IFNG IL18 TNF
14
MSP-RON Signaling 64
11.37 IFNG IL18 TNF
15
Innate Lymphoid Cell Differentiation Pathways 65
11.26 GZMB IFNG IL18 IL2RA TNF
16
African trypanosomiasis 37
11.18 IFNG IL18 TNF
17
Development and heterogeneity of the ILC family 1
11.09 IFNG IL18 TNF
18
Immune response_IL-12 signaling pathway 22
Show member pathways
 10.96 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) 22
10.66 RAB27A UNC13D
Sources

GO Terms for Hemophagocytic Lymphohistiocytosis

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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 18)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.92 LAMP1 RAB27A SNAP23 STXBP2 UNC13D
2 vesicle-mediated transport GO:0016192 9.86 AP3B1 RAB27A STX11 STXBP2
3 defense response to virus GO:0051607 9.78 IFNG LYST PRF1 UNC13D
4 humoral immune response GO:0006959 9.67 IFNG SH2D1A TNF
5 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.58 IFNG TNF
6 regulation of regulatory T cell differentiation GO:0045589 9.57 IFNG IL2RA
7 synaptic vesicle priming GO:0016082 9.55 SNAP23 UNC13B
8 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.54 SNAP23 STX11
9 regulation of mast cell degranulation GO:0043304 9.51 STXBP2 UNC13D
10 granzyme-mediated apoptotic signaling pathway GO:0008626 9.46 GZMB LAMP1
11 natural killer cell degranulation GO:0043320 9.43 RAB27A UNC13D
12 positive regulation of neuroinflammatory response GO:0150078 9.4 IL18 TNF
13 positive regulation of regulated secretory pathway GO:1903307 9.37 RAB27A UNC13D
14 positive regulation of killing of cells of other organism GO:0051712 9.32 IFNG PRF1
15 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.26 IFNG TNF
16 positive regulation of vitamin D biosynthetic process GO:0060557 9.16 IFNG TNF
17 natural killer cell mediated cytotoxicity GO:0042267 9.13 GZMB IL18 LYST
18 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 CD5 FHL2 GZMB IFNG IL18 IL2RA
Sources

Sources for Hemophagocytic Lymphohistiocytosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
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