FHL1
MCID: HMP022
MIFTS: 65

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 57 13
Familial Hemophagocytic Lymphohistiocytosis 20 43 58 36 29 54 6
Familial Hemophagocytic Lymphohistiocytosis 1 12 29 15
Hemophagocytic Syndrome 43 58 29
Fhl 57 20 43
Familial Erythrophagocytic Lymphohistiocytosis 20 43
Familial Hemophagocytic Lymphocytosis 43 70
Familial Hlh 20 58
Hplh1 57 12
Fhl1 57 12
Hlh1 57 12
Fel 57 43
Hlh 20 58
Hemophagocytic Lymphohistiocytosis, Familial; Fhl; Fhlh; Hplh 57
Erythrophagocytic Lymphohistiocytosis, Familial; Fel 57
Erythrophagocytic Lymphohistiocytosis, Familial 57
Hemophagocytic Lymphohistiocytosis, Familial 57
Primary Hemophagocytic Hymphohistiocytosis 43
Familial Hemophagocytic Histiocytosis 43
Hemophagocytic Reticulosis, Familial 57
Familial Hemophagocytic Reticulosis 43
Hemophagocytic Lymphohistiocytosis 58
Reticulosis, Familial Histiocytic 57
Familial Histiocytic Reticulosis 20
Fhlh 43
Hplh 43

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®:

57 (Updated 05-Apr-2021)
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

MedlinePlus Genetics : 43 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, 4, and has symptoms including seizures, ataxia and hemiplegia. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 1 is UNC13D (Unc-13 Homolog D), and among its related pathways/superpathways are Myogenesis and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. The drugs Pegaspargase and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include spleen, bone marrow and t cells, and related phenotypes are failure to thrive and ataxia

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

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

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 888)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 5 33.4 UNC13D STXBP2 STX11
2 hemophagocytic lymphohistiocytosis, familial, 4 33.2 UNC13D STXBP2 STX11 RAB27A PRF1 FHL2
3 lymphoproliferative syndrome, x-linked, 1 32.9 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
4 emery-dreifuss muscular dystrophy 32.6 MYOD1 H2AC18 FHL1
5 lymphoproliferative syndrome 2 32.6 STXBP2 STX11 SH2D1A
6 lymphoproliferative syndrome 1 32.6 UNC13D STXBP2 STX11 SH2D1A PRF1
7 myopathy, x-linked, with postural muscle atrophy 32.5 FHL2 FHL1
8 griscelli syndrome 32.4 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
9 griscelli syndrome, type 2 32.3 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
10 lymphoproliferative syndrome, x-linked, 2 32.3 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
11 hemophagocytic lymphohistiocytosis 32.2 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
12 pancytopenia 32.1 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
13 lymphoproliferative syndrome 31.8 UNC13D SH2D1A PRF1
14 pfeiffer syndrome 31.4 SH2D1A PRF1 H2AC18
15 chediak-higashi syndrome 31.3 UNC13D STXBP2 STX11 RAB27A PRF1 H2AC18
16 systemic onset juvenile idiopathic arthritis 31.1 RAB27A PRF1
17 autoimmune lymphoproliferative syndrome 30.8 UNC13D SH2D1A PRF1 H2AC18
18 hermansky-pudlak syndrome 30.7 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
19 primary hemophagocytic lymphohistiocytosis 30.4 UNC13D STX11 RAB27A PRF1
20 macrophage activation syndrome 30.4 UNC13D RAB27A PRF1
21 hemophagocytic lymphohistiocytosis, familial, 3 30.3 UNC13D STX11 RAB27A LOC112533672
22 hemophagocytic lymphohistiocytosis, familial, 2 30.2 UNC119 STXBP2 STX11 PRF1 MEX3D LIFR
23 dysgammaglobulinemia 30.0 STXBP2 SH2D1A
24 secondary hemophagocytic lymphohistiocytosis 11.6
25 scapuloperoneal myopathy, x-linked dominant 11.6
26 reducing body myopathy 11.4
27 griscelli syndrome, type 1 11.4
28 scapuloperoneal myopathy 11.4
29 uruguay faciocardiomusculoskeletal syndrome 11.3
30 myopathy 11.3
31 myofibrillar myopathy 11.3
32 muscular dystrophy 11.3
33 langerhans cell histiocytosis 11.2
34 acquired hemophagocytic lymphohistiocytosis associated with malignant disease 11.2
35 capillary leak syndrome 11.2
36 hypertrophic cardiomyopathy 11.1
37 muscle hypertrophy 11.1
38 reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset 11.1
39 reducing body myopathy, x-linked 1b, with late childhood or adult onset 11.1
40 clubfoot 11.0
41 scoliosis 11.0
42 respiratory failure 11.0
43 cardiomyopathy, familial hypertrophic, 1 11.0
44 muscular dystrophy, congenital, lmna-related 11.0
45 t-cell lymphoma, subcutaneous panniculitis-like 11.0
46 rigid spine muscular dystrophy 1 10.9
47 virus associated hemophagocytic syndrome 10.9
48 lymphoma 10.9
49 webb-dattani syndrome 10.9
50 immune dysregulation and systemic hyperinflammation syndrome 10.9

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
ataxia
tetraplegia
encephalitis
increased intracranial pressure
more
Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
hypertriglyceridemia
hyponatremia
hypoalbuminemia
prolonged prothrombin time
hypoproteinemia
more
Skin Nails Hair Skin:
jaundice
purpuric rashes

Muscle Soft Tissue:
generalized edema

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

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 (Updated 05-Apr-2021)

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 82)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pegaspargase Approved, Investigational Phase 3 130167-69-0
2
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
3
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
4
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
5
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
6
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
7
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
9
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
11
Etoposide Approved Phase 3 33419-42-0 36462
12
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
13
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
14
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
15
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
16
Lenalidomide Approved Phase 3 191732-72-6 216326
17
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
18
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
19
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
20 Hydrocortisone hemisuccinate Phase 3
21 Hydrocortisone 17-butyrate 21-propionate Phase 3
22 Hydrocortisone-17-butyrate Phase 3
23 Cyclosporins Phase 3
24 Antirheumatic Agents Phase 3
25 Anti-Infective Agents Phase 3
26 Dermatologic Agents Phase 3
27 Antineoplastic Agents, Hormonal Phase 3
28 Calcineurin Inhibitors Phase 3
29 Antifungal Agents Phase 3
30 Neuroprotective Agents Phase 3
31 Gastrointestinal Agents Phase 3
32 Methylprednisolone Acetate Phase 3
33 Etoposide phosphate Phase 3
34 glucocorticoids Phase 3
35 Hormone Antagonists Phase 3
36 Hormones Phase 3
37 Antiemetics Phase 3
38 Anti-Inflammatory Agents Phase 3
39 Protective Agents Phase 3
40 Antibiotics, Antitubercular Phase 3
41 Anti-Bacterial Agents Phase 3
42
Liposomal doxorubicin Phase 3 31703
43 Angiogenesis Inhibitors Phase 3
44 Immunosuppressive Agents Phase 2, Phase 3
45 Alkylating Agents Phase 2, Phase 3
46 Immunologic Factors Phase 2, Phase 3
47 Thymoglobulin Phase 2, Phase 3
48
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
49
rituximab Approved Phase 2 174722-31-7 10201696
50
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865

Interventional clinical trials:

(show all 39)
# 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 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
3 L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis Unknown status NCT02631109 Phase 3 Pegaspargase;doxorubicin;etoposide;methylprednisolone
4 A Randomized Controlled Trial of Etoposide in the First-line Treatment of Adult Epstein-barr Virus Associated Hemophagocytic Lymphohistiocytosis Unknown status NCT03742115 Phase 3 Etoposide;Dexamethasone;Etoposide;IVIG
5 Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology Unknown status NCT02862054 Phase 2, Phase 3
6 HLH-2004 Treatment Protocol Completed NCT00426101 Phase 3 Dexamethasone;Etoposide;Cyclosporin
7 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
8 DEP-ruxolitinib Regimen as a Salvage Therapy for Refractory/Relapsed Hemophagocytic Lymphohistiocytosis Recruiting NCT03533790 Phase 3 DEP-Ru
9 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
10 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
11 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
12 A Prospective Study on the Modified DEP Regimen Induction Therapy in Lymphoma Induced Hemophagocytic Lymphohistiocytosis Recruiting NCT04077905 Phase 3 Pegylated liposomal doxorubicin;Etoposide;Methylprednisolone
13 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
14 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 Unknown status NCT01818908 Phase 2 DA-EPOCH
15 First Line Treatment of Familiar Lymphohistiocytosis by Alemtuzumab (CAMPATH®) Unknown status NCT02472054 Phase 1, Phase 2 Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
16 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
17 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2
18 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)
19 Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome Completed NCT02400463 Phase 2 Ruxolitinib
20 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
21 Ruxolitinib Combined With Dexamethasone for Pediatric Refractory and Secondary Hemophagocytic Lymphohistiocytosis Recruiting NCT03795909 Phase 1, Phase 2 Ruxolitinib;Dexamethasone
22 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
23 Use Of A Response-Adapted Ruxolitinib-Containing Regimen For The Treatment Of Hemophagocytic Lymphohistiocytosis Recruiting NCT04551131 Phase 1, Phase 2 Ruxolitinib;Dexamethasone;Etoposide
24 Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen Active, not recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
25 Cytokine Blockade With Tocilizumab in Patients With Cytokine Release Syndrome and Hemophagocytic Lymphohistiocytosis Active, not recruiting NCT02007239 Phase 2 tocilizumab
26 A Single-arm, Open-label, Phase I Study of TQ05105 Tablets in Subjects With Hemophagocytic Lymphohistiocytosis. Recruiting NCT04326348 Phase 1 TQ05105
27 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
28 The Formation of a Cohort of HLHa Patients in Order to Study Their Physiopathological Characteristics Unknown status NCT02113917
29 Role of the IL-2 Inducible Tcell Kinase in EBV-HLH and EBV+ Hodgkin's Lymphoma Completed NCT01490801
30 The Prognostic and Diagnostic Value of Ferritin in Critically Ill Patients With Special Focus on Underlying Hemophagocytic Lymphohistiocytosis Completed NCT02854943
31 Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity Completed NCT01125319
32 An Observational, Multicenter Study to Evaluate Interferon Gamma (IFNγ) and Other Inflammatory Mediators in Patients With Malignancy-Associated Hemophagocytic Lymphohistiocytosis (M-HLH) Completed NCT03259230
33 A Prospective Cohort for Subjects With Adult Hemophagocytic Lymphohistiocytosis Like Syndrome Recruiting NCT03117010 Steroids;Etoposide
34 Diagnostic Biomarkers for Adult Hemophagocytic Lymphohistiocytosis in Critically Ill Patients (HEMICU) Recruiting NCT03510650
35 Establishing a Covid-19 Prospective Cohort to Document Cases of Secondary Hemophagocytic Lymphohistiocytosis (sHLH, Synonoums to Macrophage Activation Syndrome) Recruiting NCT04347460
36 A Multicenter Study for the Long-term Follow-up of HLH Patients Who Received Treatment With NI-0501, an Anti-interferon Gamma Monoclonal Antibody Active, not recruiting NCT02069899 NI-0501
37 A Single-center, Open-label, Controlled Clinical Study to Evaluate the Efficacy and Safety of Jinyouli®(PEG-rhG-CSF) for the Recovery of Neutropenia After Chemotherapy in Patients With Hemophagocytic Syndrome Not yet recruiting NCT04500886 PEG-rhG-CSF;rhG-CSF
38 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
39 Pilot Study of First-line Immunosuppressive Therapy Combined With Etoposide and Allogeneic Hematopoietic Cell Transplantation in Refractory/Reactivated Cases for Hemophagocytic Lymphohistiocytosis (HLH) in Adult Patients Terminated NCT01547143 IST and/or alloHCT

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
3 Hemophagocytic Syndrome 29

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 1

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

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

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 1

Articles related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

(show top 50) (show all 511)
# Title Authors PMID Year
1
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. 57 6 54 61
18710388 2008
2
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. 6 57 61 54
15703195 2005
3
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 61 6 57
16278825 2006
4
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. 6 54 61
19704116 2009
5
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. 61 54 6
19804848 2009
6
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. 61 6 54
17525286 2007
7
Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. 6 54 61
15632205 2005
8
Neurological Abnormality Could be the First and Only Symptom of Familial Hemophagocytic Lymphohistiocytosis: Report of Two Families. 6 61
30539918 2018
9
Predominant Neurologic Manifestations Seen in a Patient With a Biallelic Perforin1 Mutation (PRF1; p.R225W). 61 6
27271812 2017
10
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. 61 6
26342526 2016
11
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. 61 6
25312756 2015
12
First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3). 61 6
25573973 2015
13
First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea. 61 6
25553300 2015
14
[Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis]. 61 6
25297583 2014
15
Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection. 6 61
24825797 2014
16
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. 61 6
24916509 2014
17
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. 6 61
24470399 2014
18
Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency. 6 61
24842371 2014
19
Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report. 61 6
23669735 2014
20
Remission and relapse of hemophagocytic lymphohistiocytosis in a patient harboring a PRF1 homozygous mutation: a case report. 61 6
23073044 2014
21
An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2. 6 61
24459464 2014
22
Syntaxin binding mechanism and disease-causing mutations in Munc18-2. 61 6
24194549 2013
23
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. 6 61
23443029 2013
24
Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations. 6 61
23382066 2013
25
Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations. 6 61
23687090 2013
26
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients. 6 61
23592409 2013
27
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea. 6 61
23180437 2013
28
Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis. 6 61
23264592 2013
29
Familial Hemophagocytic Lymphohistiocytosis with A665G Perforin Gene Mutation: A Case Report. 6 61
24744671 2012
30
Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease. 6 61
22437823 2012
31
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). 6 61
22451424 2012
32
A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function. 61 6
21755595 2012
33
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. 6 61
21881043 2011
34
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. 61 6
21931115 2011
35
Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging. 6 61
21959744 2011
36
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. 61 6
20823128 2010
37
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. 6 61
21152410 2010
38
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. 6 61
20558610 2010
39
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. 61 6
19884660 2009
40
Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis. 6 61
19595804 2009
41
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. 6 61
19487666 2009
42
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. 6 61
18492689 2008
43
Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations. 61 6
18190960 2008
44
A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency. 6 61
18074390 2008
45
Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. 6 61
17266056 2007
46
Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. 6 61
16374518 2006
47
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. 6 61
15755897 2005
48
Unusual immunophenotype of CD8+ T cells in familial hemophagocytic lymphohistiocytosis. 6 61
15205266 2004
49
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 61 6
14622600 2003
50
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis. 61 57
12483306 2003

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 1

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

6 (show top 50) (show all 1032)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UNC13D NM_199242.2(UNC13D):c.1828_1839del (p.Arg610_Gln613del) Deletion Pathogenic 1996 rs796065024 GRCh37: 17:73831499-73831510
GRCh38: 17:75835418-75835429
2 UNC13D NM_199242.2(UNC13D):c.216del (p.Asn73fs) Deletion Pathogenic 1997 rs796065025 GRCh37: 17:73839285-73839285
GRCh38: 17:75843204-75843204
3 UNC13D NM_199242.2(UNC13D):c.1754dup (p.His586fs) Duplication Pathogenic 1998 rs796065026 GRCh37: 17:73831583-73831584
GRCh38: 17:75835502-75835503
4 UNC13D NM_199242.2(UNC13D):c.1208T>C (p.Leu403Pro) SNV Pathogenic 2002 rs121434353 GRCh37: 17:73832743-73832743
GRCh38: 17:75836662-75836662
5 UNC13D NM_199242.2(UNC13D):c.2570T>G (p.Phe857Cys) SNV Pathogenic 2003 rs121434354 GRCh37: 17:73827234-73827234
GRCh38: 17:75831153-75831153
6 STX11 NM_003764.4(STX11):c.369_376delinsTGG (p.Val124fs) Indel Pathogenic 5263 rs483352901 GRCh37: 6:144508133-144508140
GRCh38: 6:144186996-144187003
7 STX11 NC_000006.12:g.144176889_144196077del Deletion Pathogenic 5264 GRCh37: 6:144498026-144517214
GRCh38: 6:144176889-144196077
8 STX11 NM_003764.4(STX11):c.802C>T (p.Gln268Ter) SNV Pathogenic 5265 rs104893996 GRCh37: 6:144508566-144508566
GRCh38: 6:144187429-144187429
9 STXBP2 NM_006949.4(STXBP2):c.693_695del (p.Ile232del) Deletion Pathogenic 7859 rs1599398298 GRCh37: 19:7707117-7707119
GRCh38: 19:7642231-7642233
10 STXBP2 STXBP2, IVS14AS, G-C, -1 SNV Pathogenic 7860 GRCh37:
GRCh38:
11 STXBP2 NM_006949.4(STXBP2):c.626T>C (p.Leu209Pro) SNV Pathogenic 7861 rs121918541 GRCh37: 19:7706967-7706967
GRCh38: 19:7642081-7642081
12 STXBP2 NM_006949.4(STXBP2):c.260del (p.Leu87fs) Deletion Pathogenic 7862 rs1599395085 GRCh37: 19:7705630-7705630
GRCh38: 19:7640744-7640744
13 STXBP2 STXBP2, 1-BP DEL, 706G Deletion Pathogenic 7863 GRCh37:
GRCh38:
14 PRF1 PRF1, 1-BP DEL, 50T Deletion Pathogenic 13708 GRCh37:
GRCh38:
15 PRF1 NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter) SNV Pathogenic 13710 rs104894180 GRCh37: 10:72360469-72360469
GRCh38: 10:70600713-70600713
16 PRF1 NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) SNV Pathogenic 13711 rs28933973 GRCh37: 10:72358804-72358804
GRCh38: 10:70599048-70599048
17 PRF1 NM_001083116.3(PRF1):c.1286G>A (p.Gly429Glu) SNV Pathogenic 13712 rs104894181 GRCh37: 10:72358191-72358191
GRCh38: 10:70598435-70598435
18 PRF1 NM_001083116.3(PRF1):c.1034C>T (p.Pro345Leu) SNV Pathogenic 13713 rs28933374 GRCh37: 10:72358443-72358443
GRCh38: 10:70598687-70598687
19 PRF1 NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr) SNV Pathogenic 13714 rs104894182 GRCh37: 10:72358641-72358641
GRCh38: 10:70598885-70598885
20 PRF1 NM_001083116.3(PRF1):c.548T>G (p.Val183Gly) SNV Pathogenic 13715 rs104894183 GRCh37: 10:72358929-72358929
GRCh38: 10:70599173-70599173
21 PRF1 NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) Deletion Pathogenic 13721 rs771552960 GRCh37: 10:72358386-72358387
GRCh38: 10:70598630-70598631
22 PRF1 NM_001083116.3(PRF1):c.207del (p.Asp70fs) Deletion Pathogenic 13722 rs786205093 GRCh37: 10:72360452-72360452
GRCh38: 10:70600696-70600696
23 PRF1 NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter) SNV Pathogenic 13723 rs193302876 GRCh37: 10:72358231-72358231
GRCh38: 10:70598475-70598475
24 LOC112533672 , UNC13D NM_199242.2(UNC13D):c.2695C>T (p.Arg899Ter) SNV Pathogenic 325247 rs766657895 GRCh37: 17:73826673-73826673
GRCh38: 17:75830592-75830592
25 PRF1 NM_001083116.3(PRF1):c.133G>A (p.Gly45Arg) SNV Pathogenic 468300 rs578092914 GRCh37: 10:72360526-72360526
GRCh38: 10:70600770-70600770
26 PRF1 NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met) SNV Pathogenic 468301 rs189650890 GRCh37: 10:72358128-72358128
GRCh38: 10:70598372-70598372
27 UNC13D NM_199242.2(UNC13D):c.1472T>A (p.Leu491Ter) SNV Pathogenic 533091 rs1555601754 GRCh37: 17:73832165-73832165
GRCh38: 17:75836084-75836084
28 UNC13D NM_199242.2(UNC13D):c.118-308C>T SNV Pathogenic 533095 rs959968589 GRCh37: 17:73839908-73839908
GRCh38: 17:75843827-75843827
29 STXBP2 NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) SNV Pathogenic 538148 rs773360200 GRCh37: 19:7709606-7709606
GRCh38: 19:7644720-7644720
30 STXBP2 NM_006949.4(STXBP2):c.212_213del (p.Leu71fs) Deletion Pathogenic 538150 rs1555769166 GRCh37: 19:7704659-7704660
GRCh38: 19:7639773-7639774
31 PRF1 NM_001083116.3(PRF1):c.1385C>A (p.Ser462Ter) SNV Pathogenic 561093 rs1564723653 GRCh37: 10:72358092-72358092
GRCh38: 10:70598336-70598336
32 STXBP2 NM_006949.4(STXBP2):c.134del (p.Cys45fs) Deletion Pathogenic 565320 rs1568463402 GRCh37: 19:7703951-7703951
GRCh38: 19:7639065-7639065
33 UNC13D NM_199242.2(UNC13D):c.2258_2267delinsTACCTTGTCCGA (p.Gly753fs) Indel Pathogenic 566475 rs1567818219 GRCh37: 17:73830437-73830446
GRCh38: 17:75834356-75834365
34 UNC13D NM_199242.2(UNC13D):c.3011_3014dup (p.Tyr1006fs) Duplication Pathogenic 569875 rs1567816070 GRCh37: 17:73825004-73825005
GRCh38: 17:75828923-75828924
35 UNC13D NM_199242.2(UNC13D):c.1768C>T (p.Gln590Ter) SNV Pathogenic 573522 rs1567818774 GRCh37: 17:73831570-73831570
GRCh38: 17:75835489-75835489
36 STX11 NC_000006.12:g.(?_144186608)_(144187511_?)del Deletion Pathogenic 583514 GRCh37: 6:144507745-144508648
GRCh38: 6:144186608-144187511
37 UNC13D NM_199242.2(UNC13D):c.2293G>T (p.Glu765Ter) SNV Pathogenic 580834 rs763117746 GRCh37: 17:73830411-73830411
GRCh38: 17:75834330-75834330
38 STXBP2 NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) Indel Pathogenic 662726 rs1599397070 GRCh37: 19:7706635-7706644
GRCh38: 19:7641749-7641758
39 UNC13D NM_199242.2(UNC13D):c.520C>T (p.Gln174Ter) SNV Pathogenic 664792 rs1157287613 GRCh37: 17:73838563-73838563
GRCh38: 17:75842482-75842482
40 PRF1 NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) SNV Pathogenic 502548 rs752858869 GRCh37: 10:72358396-72358396
GRCh38: 10:70598640-70598640
41 STX11 NM_003764.4(STX11):c.581_584del (p.Leu194fs) Deletion Pathogenic 802280 rs1584062332 GRCh37: 6:144508343-144508346
GRCh38: 6:144187206-144187209
42 PRF1 NC_000010.11:g.(?_70598033)_(70600922_?)del Deletion Pathogenic 831689 GRCh37: 10:72357789-72360678
GRCh38:
43 UNC13D NM_199242.3(UNC13D):c.1650del (p.Glu551fs) Deletion Pathogenic 839231 GRCh37: 17:73831805-73831805
GRCh38: 17:75835724-75835724
44 UNC13D NM_199242.3(UNC13D):c.865_877dup (p.Arg293fs) Duplication Pathogenic 848121 GRCh37: 17:73836172-73836173
GRCh38: 17:75840091-75840092
45 UNC13D NM_199242.3(UNC13D):c.1215C>G (p.Tyr405Ter) SNV Pathogenic 870593 GRCh37: 17:73832736-73832736
GRCh38: 17:75836655-75836655
46 UNC13D NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter) SNV Pathogenic 940988 GRCh37: 17:73838532-73838532
GRCh38: 17:75842451-75842451
47 UNC13D NM_199242.3(UNC13D):c.2477_2480del (p.Leu826fs) Deletion Pathogenic 944890 GRCh37: 17:73827397-73827400
GRCh38: 17:75831316-75831319
48 UNC13D NM_199242.3(UNC13D):c.2212C>T (p.Gln738Ter) SNV Pathogenic 944891 GRCh37: 17:73830492-73830492
GRCh38: 17:75834411-75834411
49 STXBP2 NM_006949.4(STXBP2):c.187_190del (p.Lys63fs) Deletion Pathogenic 949674 GRCh37: 19:7704631-7704634
GRCh38: 19:7639745-7639748
50 PRF1 NM_001083116.3(PRF1):c.50del (p.Leu17fs) Deletion Pathogenic 468305 rs147035858 GRCh37: 10:72360609-72360609
GRCh38: 10:70600853-70600853

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
Show member pathways
10.56 MYOD1 MYF6 MYF5
2 10.36 UNC13D RAB27A
3 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 Weibel-Palade body GO:0033093 8.96 UNC13D RAB27A
2 cytolytic granule GO:0044194 8.62 STXBP2 PRF1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 exocytosis GO:0006887 9.67 RAB27A STX11 STXBP2 UNC13D
2 skeletal muscle tissue development GO:0007519 9.65 MYF5 MYF6 MYOD1
3 skeletal muscle cell differentiation GO:0035914 9.58 MYF5 MYF6 MYOD1
4 regulation of mast cell degranulation GO:0043304 9.51 STXBP2 UNC13D
5 positive regulation of muscle cell differentiation GO:0051149 9.5 MYF5 MYF6 MYOD1
6 natural killer cell degranulation GO:0043320 9.49 RAB27A UNC13D
7 muscle tissue morphogenesis GO:0060415 9.46 MYF5 MYF6
8 positive regulation of regulated secretory pathway GO:1903307 9.43 RAB27A UNC13D
9 positive regulation of myoblast differentiation GO:0045663 9.43 MYF5 MYF6 MYOD1
10 muscle organ development GO:0007517 9.35 FHL1 MYF5 MYF6 MYOD1 UNC45B
11 positive regulation of skeletal muscle fiber development GO:0048743 9.33 MYF5 MYF6 MYOD1
12 muscle cell fate commitment GO:0042693 8.8 MYF5 MYF6 MYOD1

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

# Name GO ID Score Top Affiliating Genes
1 E-box binding GO:0070888 8.8 MYOD1 MYF6 MYF5

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 1

3 CDC
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45 MESH via Orphanet
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