FHL1
MCID: HMP022
MIFTS: 63

Hemophagocytic Lymphohistiocytosis, Familial, 1 (FHL1)

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 1

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis, Familial, 1:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 1 56 13
Familial Hemophagocytic Lymphohistiocytosis 52 25 58 36 29 54 6
Familial Hemophagocytic Lymphohistiocytosis 1 12 29 15
Fhl 56 52 25
Familial Erythrophagocytic Lymphohistiocytosis 52 25
Familial Hemophagocytic Lymphocytosis 25 71
Hemophagocytic Syndrome 25 58
Familial Hlh 52 58
Hplh1 56 12
Fhl1 56 12
Hlh1 56 12
Fel 56 25
Hlh 52 58
Hemophagocytic Lymphohistiocytosis, Familial; Fhl; Fhlh; Hplh 56
Erythrophagocytic Lymphohistiocytosis, Familial; Fel 56
Erythrophagocytic Lymphohistiocytosis, Familial 56
Hemophagocytic Lymphohistiocytosis, Familial 56
Primary Hemophagocytic Hymphohistiocytosis 25
Familial Hemophagocytic Histiocytosis 25
Hemophagocytic Reticulosis, Familial 56
Familial Hemophagocytic Reticulosis 25
Hemophagocytic Lymphohistiocytosis 58
Reticulosis, Familial Histiocytic 56
Familial Histiocytic Reticulosis 52
Fhlh 25
Hplh 25

Characteristics:

Orphanet epidemiological data:

58
familial hemophagocytic lymphohistiocytosis
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Adolescent,Infancy;
hemophagocytic syndrome
Age of onset: Adolescent,Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hemophagocytic lymphohistiocytosis, familial, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare immunological diseases


Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 1

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, Familial, 1, also known as familial hemophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis, familial, 5 and hemophagocytic lymphohistiocytosis, familial, 3, and has symptoms including seizures, ataxia and hemiplegia. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 1 is STXBP2 (Syntaxin Binding Protein 2), and among its related pathways/superpathways are Mesenchymal Stem Cells and Lineage-specific Markers and Myogenesis. The drugs Lenalidomide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include t cells, liver and spleen, and related phenotypes are global developmental delay and splenomegaly

Disease Ontology : 12 A hemophagocytic lymphohistiocytosis that has material basis in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22.

NIH Rare Diseases : 52 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.

OMIM : 56 Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). (267700)

KEGG : 36 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.

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 1

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, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 884)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 5 35.0 STXBP2 STX11
2 hemophagocytic lymphohistiocytosis, familial, 3 34.8 UNC13D SYS1 STX11 SH2D1A RAB27A
3 hemophagocytic lymphohistiocytosis, familial, 4 34.8 UNC13D STXBP2 STX11 RAB27A PRF1 FHL2
4 hemophagocytic lymphohistiocytosis, familial, 2 34.5 UNC13D UNC119 SYS1 STXBP2 STX11 SH2D1A
5 lymphoproliferative syndrome, x-linked, 1 33.9 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
6 lymphoproliferative syndrome, x-linked, 2 33.3 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
7 griscelli syndrome, type 2 33.3 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
8 lymphoproliferative syndrome 1 33.2 UNC13D STXBP2 STX11 SH2D1A PRF1
9 lymphoproliferative syndrome 2 32.8 STXBP2 SH2D1A
10 hemophagocytic lymphohistiocytosis 32.8 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
11 muscular dystrophy, congenital, lmna-related 32.5 MYOG MYOD1 MYF5 FHL1
12 pancytopenia 31.1 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
13 lymphoproliferative syndrome 31.1 UNC13D SH2D1A PRF1
14 hermansky-pudlak syndrome 31.1 UNC13D STXBP2 STX11 RAB27A
15 primary hemophagocytic lymphohistiocytosis 31.0 UNC13D STXBP2 STX11 RAB27A PRF1
16 macrophage activation syndrome 30.9 UNC13D RAB27A PRF1
17 chediak-higashi syndrome 30.6 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
18 griscelli syndrome 30.5 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
19 rhabdomyosarcoma 30.5 MYOG MYOD1 MYF6 MYF5 FHL2
20 secondary hemophagocytic lymphohistiocytosis 12.7
21 acquired hemophagocytic lymphohistiocytosis associated with malignant disease 12.5
22 myopathy, x-linked, with postural muscle atrophy 12.2
23 reducing body myopathy 12.2
24 scapuloperoneal myopathy, x-linked dominant 12.2
25 emery-dreifuss muscular dystrophy 12.1
26 scapuloperoneal myopathy 12.1
27 myofibrillar myopathy 12.0
28 reducing body myopathy 1a 12.0
29 griscelli syndrome, type 1 11.9
30 langerhans cell histiocytosis 11.8
31 myopathy 11.8
32 capillary leak syndrome 11.8
33 reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset 11.8
34 muscular dystrophy 11.8
35 uruguay faciocardiomusculoskeletal syndrome 11.8
36 reducing body myopathy, x-linked 1b, with late childhood or adult onset 11.7
37 hypertrophic cardiomyopathy 11.7
38 muscle hypertrophy 11.6
39 hypoplastic left heart syndrome 1 11.6
40 clubfoot 11.6
41 scoliosis 11.5
42 respiratory failure 11.5
43 rigid spine muscular dystrophy 1 11.4
44 fragile x syndrome 11.4
45 pulmonary artery hypoplasia 11.4
46 t-cell lymphoma, subcutaneous panniculitis-like 11.3
47 virus associated hemophagocytic syndrome 11.2
48 reducing body myopathy 1b 11.2
49 webb-dattani syndrome 11.2
50 emery-dreifuss muscular dystrophy 4, autosomal dominant 11.1

Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 1:



Diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 1

Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis, Familial, 1

Human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 splenomegaly 31 HP:0001744
3 hepatomegaly 31 HP:0002240
4 muscular hypotonia 31 HP:0001252
5 increased intracranial pressure 31 HP:0002516
6 hypertonia 31 HP:0001276
7 failure to thrive 31 HP:0001508
8 hypertriglyceridemia 31 HP:0002155
9 irritability 31 HP:0000737
10 ataxia 31 HP:0001251
11 anemia 31 HP:0001903
12 thrombocytopenia 31 HP:0001873
13 jaundice 31 HP:0000952
14 increased ldl cholesterol concentration 31 HP:0003141
15 hyponatremia 31 HP:0002902
16 meningitis 31 HP:0001287
17 encephalitis 31 HP:0002383
18 hypoalbuminemia 31 HP:0003073
19 decreased hdl cholesterol concentration 31 HP:0003233
20 prolonged prothrombin time 31 HP:0008151
21 lymphadenopathy 31 HP:0002716
22 increased serum ferritin 31 HP:0003281
23 generalized hypotonia 31 HP:0001290
24 leukopenia 31 HP:0001882
25 hemiplegia 31 HP:0002301
26 tetraplegia 31 HP:0002445
27 coma 31 HP:0001259
28 hypoproteinemia 31 HP:0003075
29 increased total bilirubin 31 HP:0003573
30 hemophagocytosis 31 HP:0012156
31 generalized edema 31 HP:0007430
32 prolonged partial thromboplastin time 31 HP:0003645
33 increased csf protein 31 HP:0002922
34 hypofibrinogenemia 31 HP:0011900
35 csf pleocytosis 31 HP:0012229
36 seizure 31 HP:0001250
37 increased vldl cholesterol concentration 31 HP:0003362

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Neurologic Central Nervous System:
increased intracranial pressure
seizures
hypertonia
irritability
ataxia
more
Laboratory Abnormalities:
hypertriglyceridemia
hyponatremia
hypoalbuminemia
prolonged prothrombin time
hypoproteinemia
more
Skin Nails Hair Skin:
jaundice
purpuric rashes

Muscle Soft Tissue:
generalized edema

Abdomen Liver:
hepatomegaly

Growth Other:
failure to thrive

Hematology:
anemia
thrombocytopenia
leukopenia

Immunology:
lymphadenopathy
reduced natural killer cell cytotoxicity
overproduction by t lymphocytes and macrophages of cytokines, particularly interferon gamma and tumor necrosis factor alpha
activated hla dr+ t cells in peripheral blood
reduced t cell cytotoxicity
more
Head And Neck Head:
bulging fontanelle

Clinical features from OMIM:

267700

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 1:


seizures, ataxia, hemiplegia, icterus, bulging fontanelle

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 1

Drugs for Hemophagocytic Lymphohistiocytosis, Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 3 191732-72-6 216326
2
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
4 Hydrocortisone-17-butyrate Phase 3
5 Immunoglobulins Phase 3
6 Antibodies Phase 3
7 interferons Phase 3
8 Antibodies, Monoclonal Phase 3
9 Interferon-gamma Phase 3
10 Angiogenesis Inhibitors Phase 3
11 Immunologic Factors Phase 2, Phase 3
12 Immunosuppressive Agents Phase 2, Phase 3
13 Alkylating Agents Phase 2, Phase 3
14 Thymoglobulin Phase 2, Phase 3
15
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
16
Lenograstim Approved, Investigational Phase 2 135968-09-1
17
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
18
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
19
Cytarabine Approved, Experimental, Investigational Phase 2 147-94-4, 65-46-3 6253
20
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
21
Etoposide Approved Phase 2 33419-42-0 36462
22
leucovorin Approved Phase 2 58-05-9 6006 143
23
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
24
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
25
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
28
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
29
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
30
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
31 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
32
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
33
Pegaspargase Approved, Investigational Phase 2 130167-69-0
34
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
35
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
36
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
37
Hydroxyurea Approved Phase 2 127-07-1 3657
38
Gemcitabine Approved Phase 2 95058-81-4 60750
39
Mesna Approved, Investigational Phase 2 3375-50-6 598
40
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693 40926
41
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
42
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
43
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
44
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
45
rituximab Approved Phase 2 174722-31-7 10201696
46
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
47
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
48
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
49
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
50
Treosulfan Investigational Phase 2 299-75-2 9296

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 Hemophagocytic Lymphohistiocytosis Unknown status NCT00334672 Phase 3 busulfan;cyclophosphamide;cyclosporine;dexamethasone;etoposide;methotrexate;mycophenolate mofetil;therapeutic hydrocortisone
2 L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis Unknown status NCT02631109 Phase 3 Pegaspargase;doxorubicin;etoposide;methylprednisolone
3 A Randomized Controlled Trial of L-DEP as an Initial Treatment for Epstein-Barr Virus-associated Hemophagocytic Lymphohistiocytosis Unknown status NCT02912702 Phase 3 Pegaspargase;doxorubicin hydrochloride liposome injection;etoposide;methylprednisolone;Etoposide;dexamethasone
4 Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology Unknown status NCT02862054 Phase 2, Phase 3
5 HLH-2004 Treatment Protocol Completed NCT00426101 Phase 3 Dexamethasone;Etoposide;Cyclosporin
6 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
7 DEP-ruxolitinib Regimen as a Salvage Therapy for Refractory/Relapsed Hemophagocytic Lymphohistiocytosis Recruiting NCT03533790 Phase 3 DEP-Ru
8 A Prospective Study on the Modified DEP Regimen Induction Therapy in Lymphoma Induced Hemophagocytic Lymphohistiocytosis Recruiting NCT04077905 Phase 3 Pegylated liposomal doxorubicin;Etoposide;Methylprednisolone
9 Clinical Study of Different Doses of Ruxolitinib as a Salvage Therapy for Refractory/Relapsed Hemophagocytic Lymphohistiocytosis Recruiting NCT04120090 Phase 3 low dose ruxolitinib;high dose ruxolitinib
10 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 Recruiting NCT03985423 Phase 2, Phase 3 Emapalumab-Lzsg
11 A Clinical Trial of Programmed Cell Death Protein 1(PD1) Antibody and Lenalidomide as a Treatment for Epstein-Barr Virus-associated Hemophagocytic Lymphohistiocytosis or Chronic Active EBV Infection(CAEBV) Recruiting NCT04084626 Phase 3 PD1 antibody;lenalidomide
12 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
13 Tocilizumab to Prevent the Progression of Hypoxemic Respiratory Failure in Hospitalized Non-Critically Ill Patients With COVID-19 Recruiting NCT04356937 Phase 3 Tocilizumab;Placebos
14 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
15 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
16 Safety and Efficiency Study of Low-dose IL-2 Treatment in Macrophage Activation Syndrome Unknown status NCT02569463 Phase 1, Phase 2 Interleukin-2
17 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 Completed NCT00368355 Phase 2 Ara-C;Cyclophosphamide
18 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
19 Unrelated Umbilical Cord Blood As An Alternate Source Of Stem Cells Transplantation Completed NCT00055653 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;melphalan;methylprednisolone
20 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2
21 Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome Completed NCT02400463 Phase 2 Ruxolitinib
22 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)
23 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® Completed NCT00553098 Phase 2 Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
24 First Line Treatment of Familiar Lymphohistiocytosis by Alemtuzumab (CAMPATH®) Recruiting NCT02472054 Phase 1, Phase 2 Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
25 Ruxolitinib Combined With Dexamethasone for Pediatric Refractory and Secondary Hemophagocytic Lymphohistiocytosis Recruiting NCT03795909 Phase 1, Phase 2 Ruxolitinib;Dexamethasone
26 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
27 A Phase II Single-Center, Randomized, Open-Label, Safety and Efficacy Study of Etoposide in Patients With COVID-19 Infection Recruiting NCT04356690 Phase 2 Etoposide
28 Effectiveness of Interleukin-6 Receptor Inhibitors in the Management of Patients With Severe SARS-CoV-2 Pneumonia: An Open-Label, Multicenter Sequential and Cluster Randomized Trial Recruiting NCT04322773 Phase 2 RoActemra iv;RoActemra sc;Kevzara sc
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 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
31 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 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
32 Gemcitabine, Pegaspargase, Etoposide, and Dexamethasone (GPED) for Patients With Relapsed/Refractory or Advanced NK/T-cell Lymphoma : a Single Arm,Open-lable,Phase II Study Recruiting NCT04405375 Phase 2 gemcitabin;Pegaspargase;Etoposide;Dexamethasone
33 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
34 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
35 Cytokine Blockade With Tocilizumab in Patients With Cytokine Release Syndrome and Hemophagocytic Lymphohistiocytosis Active, not recruiting NCT02007239 Phase 2 tocilizumab
36 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplantation for Non-Malignant Disease Active, not recruiting NCT01966367 Phase 1, Phase 2
37 A Randomized Placebo-Controlled Safety and Dose-Finding Study for the Use of the IL-6 Inhibitor Clazakizumab in Patients With Life-threatening COVID-19 Infection Not yet recruiting NCT04381052 Phase 2 Clazakizumab
38 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
39 Administration of Haploidentical Donor T Cells Transduced With the Inducible Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
40 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
41 A Single-arm, Open-label, Phase I Study of TQ05105 Tablets in Subjects With Hemophagocytic Lymphohistiocytosis. Not yet recruiting NCT04326348 Phase 1 TQ05105
42 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
43 The Formation of a Cohort of HLHa Patients in Order to Study Their Physiopathological Characteristics Unknown status NCT02113917
44 Comparison of Predictive Ability of New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
45 Intensive Care Unit and Secondary and Primary Immune Deficiency Unknown status NCT02888535
46 Transfusion-related Epstein-Barr Virus (EBV) Infection Among Allogeneic Stem Cell Transplant Pediatric Recipients: a Multicenter Prospective Cohort Study (TREASuRE Study) Unknown status NCT02505789
47 Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity Completed NCT01125319
48 An Observational, Multicenter Study to Evaluate Interferon Gamma (IFNγ) and Other Inflammatory Mediators in Patients With Malignancy-Associated Hemophagocytic Lymphohistiocytosis (M-HLH) Completed NCT03259230
49 Ceftriaxone in Non-neutropenic Fever Completed NCT01225718
50 The Prognostic and Diagnostic Value of Ferritin in Critically Ill Patients With Special Focus on Underlying Hemophagocytic Lymphohistiocytosis Completed NCT02854943

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 1

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 1

Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

# Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 1 29
2 Familial Hemophagocytic Lymphohistiocytosis 29

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 1

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

40
T Cells, Liver, Spleen, Bone, Bone Marrow, Brain, Kidney

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 1

Articles related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

(show top 50) (show all 457)
# Title Authors PMID Year
1
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. 6 56 61 54
15703195 2005
2
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 61 56 6
16278825 2006
3
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. 54 6 61
19804848 2009
4
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. 61 56 54
18710388 2008
5
An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2. 6 61
24459464 2014
6
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. 6 61
23443029 2013
7
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. 61 6
19884660 2009
8
Hemophagocytic Lymphohistiocytosis, Familial – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61 6
20301617 2006
9
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 6 61
14622600 2003
10
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis. 61 56
12483306 2003
11
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 6 61
11179007 2001
12
Further evidence for genetic heterogeneity in familial hemophagocytic lymphohistiocytosis (FHLH). 56 61
10926299 2000
13
Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 61 6
10583959 1999
14
Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping. 56 61
9915955 1999
15
Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity. 61 56
9915956 1999
16
Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors. 61 56
9389690 1997
17
Familial hemophagocytic lymphohistiocytosis associated with disseminated T-cell lymphoma: a report of two siblings. 61 56
8080885 1994
18
Hypercytokinemia in familial hemophagocytic lymphohistiocytosis. 56 61
1954380 1991
19
Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis. 56 61
2058392 1991
20
Familial hemophagocytic lymphohistiocytosis. Clinical review based on the findings in seven children. 56 61
2035321 1991
21
Chromosome abnormalities in familial hemophagocytic lymphohistiocytosis. 61 56
3697913 1986
22
Familial hemophagocytic lymphohistiocytosis in Israel. II. Pathologic findings. 61 56
6498734 1984
23
Familial hemophagocytic lymphohistiocytosis (FHLH) in Israel. I. Description of 11 patients of Iranian-Iraqi origin and review of the literature. 61 56
6488137 1984
24
Familial hemophagocytic lymphohistiocytosis. 61 56
6354720 1983
25
Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis. 6
21234777 2011
26
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. 6
20798128 2010
27
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. 56
16937360 2007
28
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. 6
16825436 2006
29
Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. 6
16582076 2006
30
A proportion of patients with lymphoma may harbor mutations of the perforin gene. 6
15728124 2005
31
Autoimmune lymphoproliferative syndrome and perforin. 6
15659737 2005
32
The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene. 6
15365097 2004
33
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. 6
15459303 2004
34
Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. 6
14757862 2004
35
Modern management of children with haemophagocytic lymphohistiocytosis. 56
14675403 2004
36
Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan. 6
12716377 2003
37
Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing. 6
12599189 2003
38
Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. 56
12239144 2002
39
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. 6
12229880 2002
40
Improved outcome in haemophagocytic lymphohistiocytosis after bone marrow transplantation from related and unrelated donors: a single-centre experience of 12 patients. 56
10520013 1999
41
Haemophagocytic lymphohistiocytosis: an inherited primary form and a reactive secondary form. 56
8555093 1995
42
Langerhans cell histiocytosis. 56
7608790 1995
43
A prospective study of CD45 isoform expression in haemophagocytic lymphohistiocytosis; an abnormal inherited immunophenotype in one family. 6
7851014 1995
44
Haemophagocytic lymphohistiocytosis: experience at two U.K. centres. 56
7819097 1994
45
Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society. 56
1992521 1991
46
Familial haemophagocytic lymphohistiocytosis treated with allogeneic bone marrow transplantation. 56
1855079 1991
47
Familial erythrophagocytic lymphohistiocytosis. A neuropathologic study. 56
4013668 1985
48
Genetic analysis of familial erythrophagocytic lymphohistiocytosis. 56
6489375 1984
49
Familial erythrophagocytic reticulosis. Complete response to combination chemotherapy. 56
6546659 1984
50
Familial erythrophagocytic lymphohistiocytosis: an association with serum lipid abnormalities. 56
6822937 1983

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 1

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 1:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STXBP2 NM_006949.4(STXBP2):c.1247-1G>CSNV Pathogenic 330555 rs140148806 19:7710082-7710082 19:7645196-7645196
2 PRF1 NM_001083116.3(PRF1):c.256C>T (p.Gln86Ter)SNV Likely pathogenic 667424 10:72360403-72360403 10:70600647-70600647
3 STX11 NM_003764.4(STX11):c.*1221dupduplication Conflicting interpretations of pathogenicity 355616 rs397725572 6:144509845-144509846 6:144188708-144188709
4 STXBP2 NM_006949.4(STXBP2):c.849G>A (p.Glu283=)SNV Conflicting interpretations of pathogenicity 260110 rs34450592 19:7707369-7707369 19:7642483-7642483
5 STXBP2 NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly)SNV Conflicting interpretations of pathogenicity 330552 rs370890802 19:7707663-7707663 19:7642777-7642777
6 STXBP2 NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)SNV Conflicting interpretations of pathogenicity 330559 rs35490401 19:7712287-7712287 19:7647401-7647401
7 UNC13D NM_199242.2(UNC13D):c.1596+15C>GSNV Uncertain significance 325262 rs574478720 17:73831921-73831921 17:75835840-75835840
8 STX11 NM_003764.4(STX11):c.*2157_*2159GAG[1]short repeat Uncertain significance 355633 rs886061152 6:144510783-144510785 6:144189646-144189648
9 STX11 NM_003764.4(STX11):c.*3104dupduplication Uncertain significance 355644 rs558797705 6:144511720-144511721 6:144190583-144190584
10 STX11 NM_003764.4(STX11):c.-71C>TSNV Uncertain significance 355596 rs886061140 6:144471775-144471775 6:144150638-144150638
11 STX11 NM_003764.4(STX11):c.*939_*942deldeletion Uncertain significance 355612 rs886061145 6:144509564-144509567 6:144188427-144188430
12 STXBP2 NM_006949.4(STXBP2):c.578+11dupduplication Uncertain significance 330549 rs886054704 19:7706746-7706747 19:7641860-7641861
13 STX11 NM_003764.4(STX11):c.24_26del (p.Leu9del)deletion Uncertain significance 355597 rs760492745 6:144507786-144507788 6:144186649-144186651
14 STX11 NM_003764.4(STX11):c.*2014deldeletion Uncertain significance 355632 rs886061151 6:144510640-144510640 6:144189503-144189503
15 STX11 NM_003764.4(STX11):c.*2657_*2659TTC[2]short repeat Uncertain significance 355638 rs886061154 6:144511284-144511286 6:144190147-144190149
16 STX11 NM_003764.4(STX11):c.616G>A (p.Glu206Lys)SNV Uncertain significance 403500 rs145347140 6:144508380-144508380 6:144187243-144187243
17 STX11 NM_003764.4(STX11):c.*770C>TSNV Uncertain significance 355610 rs886061144 6:144509398-144509398 6:144188261-144188261
18 STX11 NM_003764.4(STX11):c.*1253dupduplication Uncertain significance 355617 rs11356106 6:144509862-144509863 6:144188725-144188726
19 STX11 NM_003764.4(STX11):c.*3103_*3104deldeletion Uncertain significance 355646 rs558797705 6:144511721-144511722 6:144190584-144190585
20 STX11 NM_003764.4(STX11):c.*3104deldeletion Uncertain significance 355645 rs558797705 6:144511721-144511721 6:144190584-144190584
21 STX11 NM_003764.4(STX11):c.*4053_*4054dupduplication Uncertain significance 355660 rs397795966 6:144512671-144512672 6:144191534-144191535
22 STX11 NM_003764.4(STX11):c.*1251_*1253dupduplication Uncertain significance 355618 rs11356106 6:144509862-144509863 6:144188725-144188726
23 STX11 NM_003764.4(STX11):c.*1254deldeletion Uncertain significance 355619 rs886061148 6:144509882-144509882 6:144188745-144188745
24 STX11 NM_003764.4(STX11):c.*3336T>CSNV Uncertain significance 355650 rs886061161 6:144511964-144511964 6:144190827-144190827
25 STX11 NM_003764.4(STX11):c.*3036_*3039ATAA[1]short repeat Likely benign 355643 rs146440209 6:144511663-144511666 6:144190526-144190529
26 STX11 NM_003764.3(STX11):c.*4457G>ASNV Likely benign 369515 rs59612420 6:144513085-144513085 6:144191948-144191948
27 STX11 NM_003764.4(STX11):c.*1540dupduplication Likely benign 355626 rs149740241 6:144510162-144510163 6:144189025-144189026
28 STXBP2 NM_006949.4(STXBP2):c.495C>T (p.Arg165=)SNV Benign/Likely benign 260105 rs2303116 19:7706656-7706656 19:7641770-7641770
29 UNC13D NM_199242.2(UNC13D):c.2448-11dupduplication Benign 263226 rs3217698 17:73827436-73827437 17:75831355-75831356
30 STXBP2 NM_006949.4(STXBP2):c.38-7C>TSNV Benign 260104 rs8104339 19:7703605-7703605 19:7638719-7638719
31 STX11 NM_003764.4(STX11):c.*4054dupduplication Benign 355659 rs397795966 6:144512671-144512672 6:144191534-144191535
32 STXBP2 NM_006949.4(STXBP2):c.1443T>C (p.Asp481=)SNV Benign 260089 rs10001 19:7711221-7711221 19:7646335-7646335
33 STXBP2 NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val)SNV Benign 260094 rs6791 19:7712277-7712277 19:7647391-7647391
34 PRF1 NM_001083116.3(PRF1):c.*209deldeletion Benign 300321 rs34914326 10:72357600-72357600 10:70597844-70597844

Expression for Hemophagocytic Lymphohistiocytosis, Familial, 1

Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis, Familial, 1.

Pathways for Hemophagocytic Lymphohistiocytosis, Familial, 1

Pathways related to Hemophagocytic Lymphohistiocytosis, Familial, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.31 MYOG MYOD1 MYF5
2
Show member pathways
10.69 MYOG MYOD1 MYF6 MYF5
3 10.46 UNC13D RAB27A
4 10.03 UNC13D RAB27A

GO Terms for Hemophagocytic Lymphohistiocytosis, Familial, 1

Cellular components related to Hemophagocytic Lymphohistiocytosis, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exocytic vesicle GO:0070382 9.16 UNC13D RAB27A
2 cytolytic granule GO:0044194 8.96 STXBP2 PRF1
3 Weibel-Palade body GO:0033093 8.62 UNC13D RAB27A

Biological processes related to Hemophagocytic Lymphohistiocytosis, Familial, 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.02 UNC45B MYOG MYOD1 MYF6 MYF5 FHL1
2 exocytosis GO:0006887 9.76 UNC13D STXBP2 STX11 RAB27A
3 skeletal muscle tissue development GO:0007519 9.73 MYOG MYOD1 MYF6 MYF5
4 skeletal muscle cell differentiation GO:0035914 9.71 MYOG MYOD1 MYF6 MYF5
5 positive regulation of muscle cell differentiation GO:0051149 9.67 MYOG MYOD1 MYF6 MYF5
6 muscle organ development GO:0007517 9.63 UNC45B MYOG MYOD1 MYF6 MYF5 FHL1
7 positive regulation of myoblast differentiation GO:0045663 9.62 MYOG MYOD1 MYF6 MYF5
8 skeletal muscle fiber development GO:0048741 9.58 MYOG MYOD1
9 skeletal muscle tissue regeneration GO:0043403 9.58 MYOG MYF6
10 positive regulation of exocytosis GO:0045921 9.57 UNC13D RAB27A
11 myoblast differentiation GO:0045445 9.56 MYOG MYOD1
12 positive regulation of myoblast fusion GO:1901741 9.56 MYOG MYOD1 MYF6 MYF5
13 myotube differentiation GO:0014902 9.54 MYOG MYOD1
14 regulation of mast cell degranulation GO:0043304 9.52 UNC13D STXBP2
15 muscle tissue morphogenesis GO:0060415 9.51 MYF6 MYF5
16 natural killer cell degranulation GO:0043320 9.49 UNC13D RAB27A
17 positive regulation of regulated secretory pathway GO:1903307 9.48 UNC13D RAB27A
18 positive regulation of skeletal muscle fiber development GO:0048743 9.26 MYOG MYOD1 MYF6 MYF5
19 muscle cell fate commitment GO:0042693 8.92 MYOG MYOD1 MYF6 MYF5

Molecular functions related to Hemophagocytic Lymphohistiocytosis, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.19 UNC45B UNC13D UNC119 STXBP2 STX11 SH2D1A
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.55 RBBP4 MYOG MYOD1 MYF6 MYF5
3 protein dimerization activity GO:0046983 9.26 MYOG MYOD1 MYF6 MYF5
4 E-box binding GO:0070888 8.92 MYOG MYOD1 MYF6 MYF5

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 1

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