Hemophagocytic Lymphohistiocytosis (FEL)

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis:

Name: Hemophagocytic Lymphohistiocytosis 12 75 53 59 15 38
Familial Hemophagocytic Lymphohistiocytosis 53 25 59 37 29 55 6
Hemophagocytic Syndrome 25 59 72
Familial Erythrophagocytic Lymphohistiocytosis 53 25
Familial Hemophagocytic Lymphocytosis 25 72
Lymphohistiocytosis, Hemophagocytic 44 72
Fhl 53 25
Hlh 53 59
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


Orphanet epidemiological data:

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


External Ids:

Disease Ontology 12 DOID:0050120
KEGG 37 H00109
MeSH 44 D051359
NCIt 50 C34792
ICD10 33 D76.1
ICD10 via Orphanet 34 D76.1
UMLS via Orphanet 73 C0024291 C0272199 C3887558
UMLS 72 C0024291 C0272199 C3887558

Summaries for Hemophagocytic Lymphohistiocytosis

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. Familial hemophagocytic lymphohistiocytosis also destroys blood-producing cells in the bone marrow, a process called hemophagocytosis. As a result, affected individuals have low numbers of red blood cells (anemia) and a reduction in the number of platelets, which are involved in clotting. A reduction in platelets may cause easy bruising and abnormal bleeding. The brain may also be affected in familial hemophagocytic lymphohistiocytosis. As a result, affected individuals may experience irritability, delayed closure of the bones of the skull in infants, neck stiffness, abnormal muscle tone, impaired muscle coordination, paralysis, blindness, seizures, and coma. In addition to neurological problems, familial hemophagocytic lymphohistiocytosis can cause abnormalities of the heart, kidneys, and other organs and tissues. Affected individuals also have an increased risk of developing cancers of blood-forming cells (leukemia and lymphoma). Signs and symptoms of familial hemophagocytic lymphohistiocytosis usually become apparent during infancy, although occasionally they appear later in life. They usually occur when the immune system launches an exaggerated response to an infection, but may also occur in the absence of infection. Without treatment, most people with familial hemophagocytic lymphohistiocytosis survive only a few months.

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 STXBP2 (Syntaxin Binding Protein 2), and among its related pathways/superpathways are Allograft rejection and NF-kappaB Signaling. The drugs Pegaspargase and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include t cells, liver and bone, 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.

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.

KEGG : 37
Familial hemophagocytic lymphohistiocytosis (FHPL) is an autosomal recessive disorder with uncontrolled activation of T cells and macrophages (hemophagocytic activation) that infiltrate into liver, spleen, bone marrow, and CNS. The symptoms include fever, hepatosplenomegaly, and cytopenia. Homozygous and heterozygous gene mutations of perforin, the major immune cytotoxic protein, were detected with frequency between 15% and 50% of all FHPL patients. UNC13D is the second gene associated with FHPL. The encoded protein (Munc13-4) is important for cytolytic granule exocytosis. Recently a third FHPL associated gene on chromosome 6q24 with mutations in STX11 was identified. The encoded protein, t-SNARE syntaxin 11, also plays a role in intracellular trafficking, but its precise role is not known.

Wikipedia : 75 Hemophagocytic lymphohistiocytosis, also known as haemophagocytic lymphohistiocytosis (British... more...

Related Diseases for 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 Hemophagocytic Lymphohistiocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 810)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 4 35.1 UNC13D STXBP2 STX11 RAB27A FHL2
2 lymphoproliferative syndrome, x-linked, 1 34.0 XIAP STXBP2 SH2D1A FHL2
3 macrophage activation syndrome 33.7 UNC13D RAB27A PRF1
4 lymphoproliferative syndrome, x-linked, 2 33.6 XIAP STXBP2 SH2D1A
5 griscelli syndrome 33.5 UNC13D RAB27A LYST
6 lymphoproliferative syndrome 1 33.2 SH2D1A ITK
7 griscelli syndrome, type 2 33.0 UNC13D UNC13B RAB27A LYST
8 systemic onset juvenile idiopathic arthritis 31.8 PRF1 IL18
9 lymphoproliferative syndrome 31.5 XIAP SH2D1A PRF1 ITK
10 acute graft versus host disease 31.3 IL2RA IL18 IFNG GZMB
11 chediak-higashi syndrome 31.2 UNC13D RAB27A LYST LAMP1
12 brucellosis 31.2 IL2RA IL18 IFNG
13 rheumatic disease 31.0 IL2RA IL18 IFNG
14 hermansky-pudlak syndrome 2 31.0 LAMP1 AP3B1
15 chronic graft versus host disease 31.0 IL2RA IFNG
16 sarcoidosis 1 30.8 IL2RA IL18 IFNG
17 peripheral t-cell lymphoma 30.8 ITK GZMB CD5
18 mycobacterium tuberculosis 1 30.8 LAMP1 IL18 IFNG
19 autoimmune lymphoproliferative syndrome 30.8 UNC13D PRF1 IL2RA
20 cutaneous t cell lymphoma 30.8 IL2RA IFNG GZMB
21 pulmonary sarcoidosis 30.5 IL2RA IL18 IFNG
22 lymphoma, non-hodgkin, familial 30.4 XIAP SH2D1A PRF1 IL2RA GZMB CD5
23 large granular lymphocyte leukemia 30.4 IL2RA IFNG
24 tetanus 30.3 SNAP23 IL2RA IFNG
25 dysgammaglobulinemia 30.1 XIAP SH2D1A
26 hemophagocytic lymphohistiocytosis, familial, 2 13.0
27 hemophagocytic lymphohistiocytosis, familial, 3 13.0
28 hemophagocytic lymphohistiocytosis, familial, 1 13.0
29 hemophagocytic lymphohistiocytosis, familial, 5 13.0
30 secondary hemophagocytic lymphohistiocytosis 12.7
31 primary hemophagocytic lymphohistiocytosis 12.6
32 acquired hemophagocytic lymphohistiocytosis associated with malignant disease 12.4
33 hypoplastic left heart syndrome 12.4
34 t-cell lymphoma, subcutaneous panniculitis-like 12.0
35 langerhans cell histiocytosis 11.8
36 virus associated hemophagocytic syndrome 11.8
37 capillary leak syndrome 11.8
38 lymphoproliferative syndrome 2 11.6
39 hypoplastic left heart syndrome 1 11.6
40 webb-dattani syndrome 11.1
41 pancytopenia 11.1
42 splenomegaly 11.0
43 hematopoietic stem cell transplantation 10.9
44 hypertriglyceridemia, familial 10.9
45 autoimmune disease 10.8
46 thrombocytopenia 10.8
47 autosomal recessive disease 10.8
48 exanthem 10.7
49 neutropenia 10.7
50 kala-azar 1 10.7

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

Diseases related to Hemophagocytic Lymphohistiocytosis

Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis:

seizures, ataxia, hemiplegia, icterus, bulging fontanelle

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 AP3B1 CD5 IFNG IL18 IL2RA ITK
2 immune system MP:0005387 10.1 AP3B1 CD5 IFNG IL18 IL2RA ITK
3 integument MP:0010771 9.81 AP3B1 CD5 IFNG IL18 LAMP1 LYST
4 nervous system MP:0003631 9.65 AP3B1 CD5 IFNG IL18 LAMP1 LYST
5 no phenotypic analysis MP:0003012 9.17 AP3B1 CD5 IFNG LYST SNAP23 STX11

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis

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

(show top 50) (show all 111)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Pegaspargase Approved, Investigational Phase 3 130167-69-0
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
asparaginase Phase 3
5 Antibodies Phase 2, Phase 3
6 Antibodies, Monoclonal Phase 2, Phase 3
7 Immunoglobulins Phase 2, Phase 3
8 interferons Phase 2, Phase 3
9 Interferon-gamma Phase 2, Phase 3
10 Alkylating Agents Phase 2, Phase 3
11 Immunosuppressive Agents Phase 2, Phase 3
12 Immunologic Factors Phase 2, Phase 3
13 Antineoplastic Agents, Alkylating Phase 2, Phase 3
14 Thymoglobulin Phase 2, Phase 3
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
Lenograstim Approved, Investigational Phase 2 135968-09-1
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
Etoposide Approved Phase 2 33419-42-0 36462
leucovorin Approved Phase 2 58-05-9 143 6006
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
Cytarabine Approved, Experimental, Investigational Phase 2 147-94-4, 65-46-3 6253
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
Mesna Approved, Investigational Phase 2 3375-50-6 598
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616 46835353
Hydroxyurea Approved Phase 2 127-07-1 3657
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
Mycophenolic acid Approved Phase 2 24280-93-1 446541
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
alemtuzumab Approved, Investigational Phase 2 216503-57-0
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
rituximab Approved Phase 2 174722-31-7 10201696
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
Treosulfan Investigational Phase 2 299-75-2 9296
48 Analgesics Phase 1, Phase 2
49 Analgesics, Non-Narcotic Phase 1, Phase 2
50 Anti-HIV Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 64)
# Name Status NCT ID Phase Drugs
1 Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology Unknown status NCT02862054 Phase 2, Phase 3
2 Hemophagocytic Lymphohistiocytosis Unknown status NCT00334672 Phase 3 busulfan;cyclophosphamide;cyclosporine;dexamethasone;etoposide;methotrexate;mycophenolate mofetil;therapeutic hydrocortisone
3 HLH-2004 Treatment Protocol Completed NCT00426101 Phase 3 Dexamethasone;Etoposide;Cyclosporin
4 DEP-ruxolitinib Regimen as a Salvage Therapy for Refractory/Relapsed Hemophagocytic Lymphohistiocytosis Recruiting NCT03533790 Phase 3 DEP-Ru
5 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
6 L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis Recruiting NCT02631109 Phase 3 Pegaspargase;doxorubicin;etoposide;methylprednisolone
7 A Randomized Controlled Trial of L-DEP as an Initial Treatment for Epstein-Barr Virus-associated Hemophagocytic Lymphohistiocytosis Recruiting NCT02912702 Phase 3 Pegaspargase;doxorubicin hydrochloride liposome injection;etoposide;methylprednisolone;Etoposide;dexamethasone
8 Open-label Extension Study With Tadekinig Alfa (r-hIL-18BP) to Monitor Safety and Tolerability in Patients With IL-18 Driven Monogenic Autoinflammatory Conditions: NLRC4 Mutation and XIAP Deficiency Recruiting NCT03512314 Phase 3 Tadekinig alfa
9 A Phase 2/3, Open-label, Single Arm, Multicentre Study to Assess Safety, Tolerability, Pharmacokinetics and Efficacy of Intravenous Multiple Administrations of NI-0501, an Anti-interferon Gamma (Anti-IFNγ) Monoclonal Antibody, in Paediatric Patients With Primary Haemophagocytic Lymphohistiocytosis Active, not recruiting NCT01818492 Phase 2, Phase 3
10 A Randomized Controlled Trial of Etoposide in the First-line Treatment of Adult Epstein-barr Virus Associated Hemophagocytic Lymphohistiocytosis Not yet recruiting NCT03742115 Phase 3 Etoposide;Dexamethasone;Etoposide;IVIG
11 A Phase 2/3, Open-label, Single Arm, Multicenter Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Emapalumab in Adult Patients With Hemophagocytic Lymphohistiocytosis Not yet recruiting NCT03985423 Phase 2, Phase 3 Emapalumab-Lzsg
12 In-vivo T-cell Depletion and Hematopoietic Stem Cell Transplantation for Life-Threatening Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
13 Safety and Efficiency Study of Low-dose IL-2 Treatment in Macrophage Activation Syndrome Unknown status NCT02569463 Phase 1, Phase 2 Interleukin-2
14 An Open Label Phase II Pilot Study of Hybrid ImmunoTherapy(ATG/Dexamethasone/Etoposide) for Hemophagocytic LymphoHistiocytosis:HIT-HLH Completed NCT01104025 Phase 2 ATG, rabbit;Etoposide;Methotrexate;hydrocortisone;Dexamethasone
15 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Immunologic or Histiocytic Disorders Using a Non-Myeloablative Preparative Regimen to Achieve Stable Mixed Chimerism Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
16 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2
17 Unrelated Umbilical Cord Blood As An Alternate Source Of Stem Cells Transplantation Completed NCT00055653 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;melphalan;methylprednisolone
18 First Line Treatment of Familiar Lymphohistiocytosis by Alemtuzumab (CAMPATH®) Recruiting NCT02472054 Phase 1, Phase 2 Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
19 CD-34 Selection for Ex-vivo T-Cell Depletion of Mobilized Peripheral Blood Stem Cells for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Receiving Intensive Conditioning Recruiting NCT00368355 Phase 2 Ara-C;Cyclophosphamide
20 Cytokine Blockade With Tocilizumab in Patients With Cytokine Release Syndrome and Hemophagocytic Lymphohistiocytosis Recruiting NCT02007239 Phase 2 tocilizumab
21 Ruxolitinib Combined With Dexamethasone for Pediatric Refractory and Secondary Hemophagocytic Lymphohistiocytosis Recruiting NCT03795909 Phase 1, Phase 2 Ruxolitinib;Dexamethasone
22 Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome Recruiting NCT02400463 Phase 2 Ruxolitinib
23 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
24 A Pilot, Open-label, Single Arm, Multicenter Study to Evaluate Safety, Tolerability, Pharmacokinetics and Efficacy of Intravenous Administrations of NI-0501, an Anti-interferon Gamma (Anti-IFNγ) Monoclonal Antibody, in Patients With Systemic Juvenile Idiopathic Arthritis (sJIA) Developing Macrophage Activation Syndrome/Secondary HLH (MAS/sHLH) Recruiting NCT03311854 Phase 2 NI-0501
25 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
26 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
27 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplant for Malignant Disease Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
28 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
29 Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
30 Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation Recruiting NCT03663933 Phase 2 Immunosuppression Only Conditioning (IOC);Reduced Intensity Conditioning (RIC);GVHD Prophylaxis
31 A Prospective, Single-arm, Open-label, Phase 2 Study to Evaluate Efficacy and Safety of DA-EPOCH Regimen for Non-Hodgkin's Lymphoma With Hemophagocytic Lymphohistiocytosis Active, not recruiting NCT01818908 Phase 2 DA-EPOCH
32 Hematopoietic Cell Transplantation for Treatment of Patients With Primary Immunodeficiencies and Other Nonmalignant Inherited Disorders Using Low-Dose TBI and Fludarabine With or Without Campath® Active, not recruiting NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
33 Administration of Haploidentical Donor T Cells Transduced With the Inducible Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
34 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
35 CASPALLO: A Phase I Study Evaluating the Use of Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene After Haploidentical Stem Cell Transplantation Active, not recruiting NCT00710892 Phase 1
36 A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
37 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;filgrastim;methotrexate
38 The Formation of a Cohort of HLHa Patients in Order to Study Their Physiopathological Characteristics Unknown status NCT02113917
39 Comparison of Predictive Ability of New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
40 Transfusion-related Epstein-Barr Virus (EBV) Infection Among Allogeneic Stem Cell Transplant Pediatric Recipients: a Multicenter Prospective Cohort Study (TREASuRE Study) Unknown status NCT02505789
41 sCD163 & CD19 as Candidate Biomarkers in Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) - A Study of sCD163 in the Cerebrospinal Fluid Unknown status NCT02271724
42 sCD163 as a Potential Biomarker in Guillain- Barré Syndrome Unknown status NCT02582853
43 Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity Completed NCT01125319
44 The Prognostic and Diagnostic Value of Ferritin in Critically Ill Patients With Special Focus on Underlying Hemophagocytic Lymphohistiocytosis Completed NCT02854943
45 Ceftriaxone in Non-neutropenic Fever Completed NCT01225718
46 Role of the IL-2 Inducible Tcell Kinase in EBV-HLH and EBV+ Hodgkin's Lymphoma Completed NCT01490801
47 Inflammation in Amyotrophic Lateral Sclerosis - a Study of Soluble Cluster of Differentiation 163 in the Cerebrospinal Fluid Completed NCT02325375
48 Diagnostic Biomarkers for Adult Hemophagocytic Lymphohistiocytosis in Critically Ill Patients (HEMICU) Recruiting NCT03510650
49 A Prospective Cohort for Subjects With Adult Hemophagocytic Lymphohistiocytosis Like Syndrome Recruiting NCT03117010 Steroids;Etoposide
50 An Observational, Multicenter Study to Evaluate Interferon Gamma (IFNγ) and Other Inflammatory Mediators in Patients With Malignancy-Associated Hemophagocytic Lymphohistiocytosis (M-HLH) Recruiting NCT03259230

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

Genetic Tests for Hemophagocytic Lymphohistiocytosis

Genetic tests related to Hemophagocytic Lymphohistiocytosis:

# Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 29

Anatomical Context for Hemophagocytic Lymphohistiocytosis

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:

T Cells, Liver, Bone, Bone Marrow, Spleen, B Cells, Kidney

Publications for Hemophagocytic Lymphohistiocytosis

Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 2311)
# Title Authors PMID Year
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. 9 38 71
19804848 2009
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 9 38 71
16278825 2006
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. 9 38 71
15703195 2005
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. 9 38 71
12229880 2002
An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2. 38 71
24459464 2014
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. 38 71
23443029 2013
Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis. 38 71
21234777 2011
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. 38 71
19884660 2009
Hemophagocytic Lymphohistiocytosis, Familial 38 71
20301617 2006
A proportion of patients with lymphoma may harbor mutations of the perforin gene. 38 71
15728124 2005
The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene. 38 71
15365097 2004
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 38 71
14622600 2003
Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing. 38 71
12599189 2003
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 38 71
11179007 2001
Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 38 71
10583959 1999
Hemophagocytic lymphohistiocytosis: pathogenesis and treatment. 38 6
24319239 2013
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. 71
20798128 2010
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. 71
16825436 2006
Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. 71
16582076 2006
Autoimmune lymphoproliferative syndrome and perforin. 71
15659737 2005
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. 71
15459303 2004
Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. 71
14757862 2004
Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan. 71
12716377 2003
A prospective study of CD45 isoform expression in haemophagocytic lymphohistiocytosis; an abnormal inherited immunophenotype in one family. 71
7851014 1995
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. 9 38
20015888 2010
Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. 9 38
20092789 2009
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. 9 38
19704116 2009
[The early diagnosis and clinical analysis of 57 cases of acquired hemophagocytic lymphohistiocytosis]. 9 38
19576122 2009
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). 9 38
18991284 2008
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. 9 38
18710388 2008
Variations of the perforin gene in patients with multiple sclerosis. 9 38
18496551 2008
Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis. 9 38
18000860 2008
Variations of the perforin gene in patients with type 1 diabetes. 9 38
18198357 2008
Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. 9 38
18311812 2008
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. 9 38
17525286 2007
Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. 9 38
17606450 2007
Perforin gene analaysis in an Iranian family with familial hemophagocytic lymphohistiocytosis. 9 38
17652853 2007
Hemophagocytic lymphohistiocytosis and related disorders. 9 38
17088644 2006
Prolonged course of familial hemophagocytic lymphohistiocytosis. 9 38
17164654 2006
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. 9 38
16778144 2006
Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. 9 38
16791263 2006
Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection. 9 38
16956828 2006
[Defect in lytic granule exocytosis: several causes, a same effect]. 9 38
16962048 2006
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. 9 38
16860143 2006
Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL). 9 38
16365863 2006
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. 9 38
15755897 2005
Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. 9 38
15632205 2005
Herpes simplex virus 2-associated hemophagocytic lymphohistiocytosis in a pregnant patient. 9 38
15863596 2005
Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people. 9 38
16180048 2005
Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. 9 38
11571516 2001

Variations for Hemophagocytic Lymphohistiocytosis

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis:

6 (show top 50) (show all 213)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 STXBP2 NM_006949.4(STXBP2): c.1247-1G> C single nucleotide variant Pathogenic rs140148806 19:7710082-7710082 19:7645196-7645196
2 PRF1 NM_001083116.3(PRF1): c.272C> T (p.Ala91Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35947132 10:72360387-72360387 10:70600631-70600631
3 UNC13D NM_199242.2(UNC13D): c.1228A> C (p.Ile410Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117221419 17:73832723-73832723 17:75836642-75836642
4 STX11 NM_003764.4(STX11): c.546G> A (p.Glu182=) single nucleotide variant Conflicting interpretations of pathogenicity rs146949718 6:144508310-144508310 6:144187173-144187173
5 UNC13D NM_199242.2(UNC13D): c.2341G> A (p.Val781Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149871493 17:73830182-73830182 17:75834101-75834101
6 UNC13D NM_199242.2(UNC13D): c.444G> A (p.Gly148=) single nucleotide variant Conflicting interpretations of pathogenicity rs373551579 17:73838639-73838639 17:75842558-75842558
7 PRF1 NM_001083116.3(PRF1): c.630C> T (p.Pro210=) single nucleotide variant Conflicting interpretations of pathogenicity rs144004164 10:72358847-72358847 10:70599091-70599091
8 PRF1 NM_001083116.3(PRF1): c.462A> G (p.Ala154=) single nucleotide variant Conflicting interpretations of pathogenicity rs116554195 10:72360197-72360197 10:70600441-70600441
9 UNC13D NM_199242.2(UNC13D): c.2896C> T (p.Arg966Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs118049905 17:73826167-73826167 17:75830086-75830086
10 UNC13D NM_199242.2(UNC13D): c.2298+15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs112341334 17:73830391-73830391 17:75834310-75834310
11 UNC13D NM_199242.2(UNC13D): c.2052C> G (p.Leu684=) single nucleotide variant Conflicting interpretations of pathogenicity rs150861045 17:73830738-73830738 17:75834657-75834657
12 UNC13D NM_199242.2(UNC13D): c.3078C> T (p.Pro1026=) single nucleotide variant Conflicting interpretations of pathogenicity rs372034111 17:73824941-73824941 17:75828860-75828860
13 UNC13D NM_199242.2(UNC13D): c.951+13T> G single nucleotide variant Conflicting interpretations of pathogenicity rs140758914 17:73836086-73836086 17:75840005-75840005
14 UNC13D NM_199242.2(UNC13D): c.99G> A (p.Pro33=) single nucleotide variant Conflicting interpretations of pathogenicity rs147886860 17:73840320-73840320 17:75844239-75844239
15 UNC13D NM_199242.2(UNC13D): c.24G> A (p.Pro8=) single nucleotide variant Conflicting interpretations of pathogenicity rs143320460 17:73840395-73840395 17:75844314-75844314
16 STXBP2 NM_006949.4(STXBP2): c.849G> A (p.Glu283=) single nucleotide variant Conflicting interpretations of pathogenicity rs34450592 19:7707369-7707369 19:7642483-7642483
17 STX11 NM_003764.4(STX11): c.*1221dup duplication Conflicting interpretations of pathogenicity rs397725572 6:144509849-144509849 6:144188712-144188712
18 UNC13D NM_199242.2(UNC13D): c.904C> T (p.Leu302Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs55661958 17:73836146-73836146 17:75840065-75840065
19 STXBP2 NM_006949.4(STXBP2): c.1455C> T (p.Asp485=) single nucleotide variant Conflicting interpretations of pathogenicity rs146425381 19:7712050-7712050 19:7647164-7647164
20 UNC13D NM_199242.2(UNC13D): c.3033C> T (p.Ala1011=) single nucleotide variant Conflicting interpretations of pathogenicity rs144730861 17:73824986-73824986 17:75828905-75828905
21 STXBP2 NM_006949.4(STXBP2): c.1586G> C (p.Arg529Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs35490401 19:7712287-7712287 19:7647401-7647401
22 UNC13D NM_199242.2(UNC13D): c.2368-5C> T single nucleotide variant Uncertain significance rs180768962 17:73829131-73829131 17:75833050-75833050
23 UNC13D NM_199242.2(UNC13D): c.2044C> T (p.Arg682Cys) single nucleotide variant Uncertain significance rs755931780 17:73830746-73830746 17:75834665-75834665
24 UNC13D NM_199242.2(UNC13D): c.1772C> T (p.Pro591Leu) single nucleotide variant Uncertain significance rs144852879 17:73831566-73831566 17:75835485-75835485
25 UNC13D NM_199242.2(UNC13D): c.1389+12G> A single nucleotide variant Uncertain significance rs199536082 17:73832408-73832408 17:75836327-75836327
26 UNC13D NM_199242.2(UNC13D): c.273G> A (p.Val91=) single nucleotide variant Uncertain significance rs149494974 17:73839143-73839143 17:75843062-75843062
27 UNC13D NM_199242.2(UNC13D): c.-229C> G single nucleotide variant Uncertain significance rs569893312 17:73840647-73840647 17:75844566-75844566
28 UNC13D NM_199242.2(UNC13D): c.-260C> T single nucleotide variant Uncertain significance rs113482537 17:73840678-73840678 17:75844597-75844597
29 STXBP2 NM_006949.4(STXBP2): c.14G> A (p.Gly5Glu) single nucleotide variant Uncertain significance rs886054700 19:7702049-7702049 19:7637163-7637163
30 STXBP2 NM_006949.4(STXBP2): c.145G> C (p.Asp49His) single nucleotide variant Uncertain significance rs886054701 19:7703962-7703962 19:7639076-7639076
31 STXBP2 NM_006949.4(STXBP2): c.270C> T (p.Asp90=) single nucleotide variant Uncertain significance rs886054702 19:7705640-7705640 19:7640754-7640754
32 STXBP2 NM_006949.4(STXBP2): c.333C> T (p.Pro111=) single nucleotide variant Uncertain significance rs144233139 19:7705793-7705793 19:7640907-7640907
33 STXBP2 NM_006949.4(STXBP2): c.1616T> C (p.Met539Thr) single nucleotide variant Uncertain significance rs886054705 19:7712317-7712317 19:7647431-7647431
34 UNC13D NM_199242.2(UNC13D): c.*317C> T single nucleotide variant Uncertain significance rs767459692 17:73823729-73823729 17:75827648-75827648
35 UNC13D NM_199242.2(UNC13D): c.*18G> A single nucleotide variant Uncertain significance rs886053421 17:73824028-73824028 17:75827947-75827947
36 UNC13D NM_199242.2(UNC13D): c.3079G> A (p.Gly1027Arg) single nucleotide variant Uncertain significance rs776703437 17:73824940-73824940 17:75828859-75828859
37 UNC13D NM_199242.2(UNC13D): c.-363C> T single nucleotide variant Uncertain significance rs886053429 17:73840781-73840781 17:75844700-75844700
38 STXBP2 NM_006949.4(STXBP2): c.914A> G (p.Glu305Gly) single nucleotide variant Uncertain significance rs370890802 19:7707663-7707663 19:7642777-7642777
39 STXBP2 NM_006949.4(STXBP2): c.1027-10C> T single nucleotide variant Uncertain significance rs201961771 19:7708041-7708041 19:7643155-7643155
40 UNC13D NM_199242.2(UNC13D): c.156G> T (p.Arg52=) single nucleotide variant Uncertain significance rs111728477 17:73839345-73839345 17:75843264-75843264
41 UNC13D NM_199242.2(UNC13D): c.43T> G (p.Leu15Val) single nucleotide variant Uncertain significance rs886053424 17:73840376-73840376 17:75844295-75844295
42 UNC13D NM_199242.2(UNC13D): c.-176G> A single nucleotide variant Uncertain significance rs886053427 17:73840594-73840594 17:75844513-75844513
43 UNC13D NM_199242.2(UNC13D): c.-278C> T single nucleotide variant Uncertain significance rs886053428 17:73840696-73840696 17:75844615-75844615
44 UNC13D NM_199242.2(UNC13D): c.-332G> A single nucleotide variant Uncertain significance rs560759175 17:73840750-73840750 17:75844669-75844669
45 PRF1 NM_001083116.3(PRF1): c.591C> T (p.Leu197=) single nucleotide variant Uncertain significance rs767273601 10:72358886-72358886 10:70599130-70599130
46 PRF1 NM_001083116.3(PRF1): c.-41C> T single nucleotide variant Uncertain significance rs886047110 10:72362411-72362411 10:70602655-70602655
47 PRF1 NM_001083116.3(PRF1): c.-109G> A single nucleotide variant Uncertain significance rs114178404 10:72362479-72362479 10:70602723-70602723
48 PRF1 NM_001083116.3(PRF1): c.*559T> G single nucleotide variant Uncertain significance rs530803679 10:72357250-72357250 10:70597494-70597494
49 PRF1 NM_001083116.3(PRF1): c.*367G> A single nucleotide variant Uncertain significance rs146245380 10:72357442-72357442 10:70597686-70597686
50 PRF1 NM_001083116.3(PRF1): c.*46T> C single nucleotide variant Uncertain significance rs140956842 10:72357763-72357763 10:70598007-70598007

Expression for Hemophagocytic Lymphohistiocytosis

Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis.

Pathways for Hemophagocytic Lymphohistiocytosis

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

(show all 12)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
4 11.73 LAMP1 IL2RA IFNG CD5
Show member pathways
6 11.36 IL2RA IL18 IFNG GZMB
Show member pathways
Show member pathways
9 10.81 IL18 IFNG
10 10.68 UNC13D RAB27A
11 10.54 UNC13D RAB27A
12 10.37 PRF1 IL2RA IL18 IFNG

GO Terms for Hemophagocytic Lymphohistiocytosis

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 STXBP2 SNAP23
2 azurophil granule GO:0042582 9.16 STXBP2 SNAP23
3 Weibel-Palade body GO:0033093 8.96 UNC13D RAB27A
4 cytolytic granule GO:0044194 8.8 STXBP2 PRF1 LAMP1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.98 STXBP2 STX11 SNAP23 LYST AP3B1
2 neutrophil degranulation GO:0043312 9.88 UNC13D STXBP2 SNAP23 RAB27A LAMP1
3 vesicle-mediated transport GO:0016192 9.84 STXBP2 STX11 RAB27A AP3B1
4 defense response to virus GO:0051607 9.71 UNC13D PRF1 LYST IFNG
5 cellular defense response GO:0006968 9.61 SH2D1A PRF1 ITK
6 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.58 SH2D1A LAMP1
7 cytolysis GO:0019835 9.57 PRF1 GZMB
8 melanosome organization GO:0032438 9.56 LYST AP3B1
9 regulation of regulatory T cell differentiation GO:0045589 9.55 IL2RA IFNG
10 synaptic vesicle priming GO:0016082 9.52 UNC13B SNAP23
11 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.51 STX11 SNAP23
12 regulation of mast cell degranulation GO:0043304 9.46 UNC13D STXBP2
13 natural killer cell degranulation GO:0043320 9.37 UNC13D RAB27A
14 granzyme-mediated apoptotic signaling pathway GO:0008626 9.32 LAMP1 GZMB
15 positive regulation of regulated secretory pathway GO:1903307 9.26 UNC13D RAB27A
16 interferon-gamma production GO:0032609 9.19 ITK
17 positive regulation of killing of cells of other organism GO:0051712 9.16 PRF1 IFNG
18 natural killer cell mediated cytotoxicity GO:0042267 9.13 LYST IL18 GZMB
19 exocytosis GO:0006887 9.1 UNC13D UNC13B STXBP2 STX11 SNAP23 RAB27A

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 XIAP UNC13D UNC13B STXBP2 STX11 SNAP23
2 syntaxin-1 binding GO:0017075 8.96 UNC13B STXBP2

Sources for Hemophagocytic Lymphohistiocytosis

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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