MCID: HMP002
MIFTS: 67

Hemophagocytic Lymphohistiocytosis

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis:

Name: Hemophagocytic Lymphohistiocytosis 38 12 76 53 15
Familial Hemophagocytic Lymphohistiocytosis 53 25 59 37 29 55 6
Hemophagocytic Syndrome 12 25 73
Familial Erythrophagocytic Lymphohistiocytosis 53 25
Familial Hemophagocytic Lymphocytosis 25 73
Lymphohistiocytosis, Hemophagocytic 44 73
Fhl 53 25
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
Hps 12
Hlh 53

Characteristics:

Orphanet epidemiological data:

59
familial hemophagocytic lymphohistiocytosis
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Adolescent,Infancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050120
ICD10 33 D76.1
MeSH 44 D051359
NCIt 50 C34792
SNOMED-CT 68 190958003 234437005
Orphanet 59 ORPHA540
UMLS via Orphanet 74 C0272199
ICD10 via Orphanet 34 D76.1
KEGG 37 H00109

Summaries for Hemophagocytic Lymphohistiocytosis

NIH Rare Diseases : 53 Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). People with HLH usually develop symptoms within the first months or years of life. Symptoms may include fever, enlarged liver or spleen, cytopenia (decreased number of blood cells), and neurological abnormalities. HLH may be inherited in an autosomal recessive manner or it can have non-genetic causes in which case it is called acquired HLH. There are five subtypes of inherited HLH which are designated as familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene. The genetic cause of type 1 is currently unknown. Types 2-5 are caused by mutations in the PRF1 gene, the UNC13D gene, the STX11 gene and the STXBP2 gene, respectively. Treatment depends on a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. When HLH results from an inappropriate immune response to Epstein-Barr virus or another viral illness, it may be due to a separate genetic condition called X-linked lymphoproliferative disease (XLP). XLP is caused by a mutation in the SH2D1A or XIAP gene and is inherited in an X-linked manner.

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, also known as familial hemophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis, familial, 4 and lymphoproliferative syndrome, x-linked, 1, and has symptoms including ataxia, hemiplegia and icterus. An important gene associated with Hemophagocytic Lymphohistiocytosis is PRF1 (Perforin 1), and among its related pathways/superpathways are Allograft rejection and Influenza A. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include t cells, liver and spleen, and related phenotypes are hematopoietic system and immune system

Disease Ontology : 12 A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.

Genetics Home Reference : 25 Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs.

Wikipedia : 76 Hemophagocytic lymphohistiocytosis (HLH), 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

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

(show top 50) (show all 256)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 4 35.2 FHL2 RAB27A STX11 STXBP2 UNC13D
2 lymphoproliferative syndrome, x-linked, 1 33.8 SH2D1A STXBP2 XIAP
3 lymphoproliferative syndrome, x-linked, 2 33.7 SH2D1A STXBP2 XIAP
4 macrophage activation syndrome 33.3 PRF1 RAB27A TNF UNC13D
5 griscelli syndrome, type 2 33.0 LYST RAB27A UNC13B UNC13D
6 griscelli syndrome 31.4 LYST RAB27A UNC13D
7 chediak-higashi syndrome 31.2 LYST RAB27A UNC13D
8 visceral leishmaniasis 31.2 IFNG IL18 TNF
9 cytomegalovirus infection 31.1 IFNG IL2RA TNF
10 lymphadenitis 31.1 IFNG IL18 TNF
11 brucellosis 31.0 IFNG IL2RA TNF
12 hermansky-pudlak syndrome 2 30.9 AP3B1 LAMP1
13 systemic onset juvenile idiopathic arthritis 30.9 IL18 PRF1 TNF
14 lymphoproliferative syndrome 30.8 IL2RA SH2D1A XIAP
15 aplastic anemia 30.7 IFNG PRF1 SH2D1A TNF
16 cutaneous t cell lymphoma 30.7 GZMB IFNG IL2RA
17 autoimmune lymphoproliferative syndrome 30.6 IL2RA PRF1 UNC13D
18 juvenile rheumatoid arthritis 30.6 IL18 IL2RA TNF
19 graft-versus-host disease 30.5 GZMB IFNG TNF
20 hemophagocytic lymphohistiocytosis, familial, 3 12.7
21 hemophagocytic lymphohistiocytosis, familial, 1 12.7
22 hemophagocytic lymphohistiocytosis, familial, 2 12.6
23 hemophagocytic lymphohistiocytosis, familial, 5 12.6
24 acquired hemophagocytic lymphohistiocytosis associated with malignant disease 12.1
25 hantavirus pulmonary syndrome 12.0
26 hypoplastic left heart syndrome 11.9
27 langerhans cell histiocytosis 11.5
28 capillary leak syndrome 11.4
29 lymphoproliferative syndrome 1 11.3
30 lymphoproliferative syndrome 2 11.3
31 virus associated hemophagocytic syndrome 11.1
32 acute necrotizing encephalitis 10.9 GZMB IFNG
33 hyperlucent lung 10.9 IFNG IL2RA
34 selective immunoglobulin deficiency disease 10.9 SH2D1A STXBP2
35 staphylococcal toxic shock syndrome 10.7 IFNG TNF
36 good syndrome 10.7 STX11 UNC13D
37 posterior uveitis 10.7 IFNG IL2RA TNF
38 lymphatic system disease 10.7 RAB27A SH2D1A STX11 STXBP2 UNC13D
39 pleural tuberculosis 10.7 IFNG IL18 TNF
40 intermediate uveitis 10.7 IFNG IL2RA TNF
41 autoimmune myocarditis 10.7 IFNG TNF
42 paracoccidioidomycosis 10.7 IFNG IL18 TNF
43 cutaneous lupus erythematosus 10.7 GZMB IL18 TNF
44 melioidosis 10.7 IFNG IL18 TNF
45 erythema multiforme 10.7 GZMB IFNG TNF
46 smallpox 10.7 IFNG IL18 TNF
47 b-cell expansion with nfkb and t-cell anergy 10.6 CD5 GZMB IL2RA
48 autoinflammation, lipodystrophy, and dermatosis syndrome 10.6 IFNG IL18 TNF
49 bronchiolitis obliterans 10.6 GZMB IFNG TNF
50 plasmodium falciparum malaria 10.6 IFNG IL18 TNF

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:


ataxia, hemiplegia, icterus, seizures, bulging fontanelle

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.3 AP3B1 CD5 IFNG IL18 IL2RA LYST
2 immune system MP:0005387 10.25 XIAP AP3B1 CD5 IFNG IL18 IL2RA
3 growth/size/body region MP:0005378 10.22 AP3B1 IFNG IL18 IL2RA LAMP1 LYST
4 homeostasis/metabolism MP:0005376 10.21 AP3B1 IFNG IL18 IL2RA LYST PRF1
5 mortality/aging MP:0010768 10.1 AP3B1 IFNG IL18 IL2RA LAMP1 LYST
6 integument MP:0010771 10.07 AP3B1 CD5 IFNG IL18 LAMP1 LYST
7 nervous system MP:0003631 10 UNC13B AP3B1 CD5 IFNG IL18 LAMP1
8 no phenotypic analysis MP:0003012 9.76 AP3B1 CD5 IFNG LYST SNAP23 STX11
9 respiratory system MP:0005388 9.5 TNF AP3B1 IFNG IL2RA LYST RAB27A
10 vision/eye MP:0005391 9.23 AP3B1 IFNG IL18 IL2RA LYST RAB27A

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis

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

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
3
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 50-02-2 5743
4
Etoposide Approved Phase 3,Phase 2,Not Applicable 33419-42-0 36462
5
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2 50-23-7 5754
6
Methotrexate Approved Phase 3,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
7
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
8
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2,Phase 1 128794-94-5 5281078
9
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1 24280-93-1 446541
10
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
11
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 83-43-2 6741
12
Prednisolone Approved, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 50-24-8 5755
13
Pegaspargase Approved, Investigational Phase 3 130167-69-0
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Not Applicable 59-30-3 6037
15
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Not Applicable 58-05-9 143 6006
16
Butyric Acid Experimental, Investigational Phase 3,Phase 2 107-92-6 264
17
Doxil Approved June 1999 Phase 3,Phase 2 31703
18 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
19 Anti-Bacterial Agents Phase 3,Phase 2
20 Antibiotics, Antitubercular Phase 3,Phase 2
21 Antiemetics Phase 3,Phase 2,Phase 1,Not Applicable
22 Antifungal Agents Phase 3,Phase 2,Phase 1,Not Applicable
23 Anti-Infective Agents Phase 3,Phase 1,Phase 2,Not Applicable
24 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
25 Antilymphocyte Serum Phase 3,Phase 2,Not Applicable
26 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
27 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Not Applicable
28 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
29 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Phase 1,Not Applicable
30 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Not Applicable
31 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
32 Antitubercular Agents Phase 3,Phase 2
33 Autonomic Agents Phase 3,Phase 2,Phase 1,Not Applicable
34 BB 1101 Phase 3,Phase 2,Not Applicable
35 Calcineurin Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
36 Cortisol succinate Phase 3,Phase 2
37 Cyclosporins Phase 3,Phase 2,Phase 1,Not Applicable
38 Dermatologic Agents Phase 3,Phase 2,Phase 1,Not Applicable
39 Dexamethasone acetate Phase 3,Phase 2,Not Applicable 1177-87-3
40 Etoposide phosphate Phase 3,Phase 2,Not Applicable
41 Folic Acid Antagonists Phase 3,Phase 2,Not Applicable
42 Gastrointestinal Agents Phase 3,Phase 2,Phase 1,Not Applicable
43 glucocorticoids Phase 3,Phase 2,Phase 1,Not Applicable
44 Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
45 Hormones Phase 3,Phase 2,Phase 1,Not Applicable
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
47 Hydrocortisone 17-butyrate 21-propionate Phase 3,Phase 2
48 Hydrocortisone acetate Phase 3,Phase 2
49 Hydrocortisone-17-butyrate Phase 3,Phase 2
50 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy Followed By Donor Stem Cell Transplant in Treating Patients With Hemophagocytic Lymphohistiocytosis Unknown status NCT00334672 Phase 3 busulfan;cyclophosphamide;cyclosporine;dexamethasone;etoposide;methotrexate;mycophenolate mofetil;therapeutic hydrocortisone
2 Treatment Protocol for Hemophagocytic Lymphohistiocytosis 2004 Completed NCT00426101 Phase 3 Dexamethasone;Etoposide;Cyclosporin
3 L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis Recruiting NCT02631109 Phase 3 Pegaspargase;doxorubicin;etoposide;methylprednisolone
4 L-DEP as an Initial Treatment for EBV-HLH Recruiting NCT02912702 Phase 3 Pegaspargase;doxorubicin hydrochloride liposome injection;etoposide;methylprednisolone;Etoposide;dexamethasone
5 Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology Recruiting NCT02862054 Phase 2, Phase 3
6 DEP-Ru Regimen as a Salvage Therapy for HLH Recruiting NCT03533790 Phase 3 DEP-Ru
7 A Study to Investigate the Safety and Efficacy of an Anti-IFNγ mAb in Children Affected by Primary Haemophagocytic Lymphohistiocytosis Recruiting NCT01818492 Phase 2, Phase 3
8 Study to Assess the Efficacy and Safety of Emapalumab in Primary Haemophagocytic Lymphohistiocytosis Not yet recruiting NCT03312751 Phase 3 Emapalumab
9 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
10 Trial of DA-EPOCH Regimen for NHL With HLH Unknown status NCT01818908 Phase 2 DA-EPOCH
11 Low-dose IL-2 ( Interleukin-2) Treatment in Macrophage Activation Syndrome(MAS) Unknown status NCT02569463 Phase 1, Phase 2 Interleukin-2
12 Hybrid Immunotherapy for Hemophagocytic LymphoHistiocytosis Completed NCT01104025 Phase 2 ATG, rabbit;Etoposide;Methotrexate;hydrocortisone;Dexamethasone
13 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Completed NCT01998633 Phase 2
14 Stem Cell Transplant for Immunologic or Histiocytic Disorders Completed NCT00176865 Phase 2 Fludarabine;Melphalan;Anti-thymocyte globulin (ATG);Campath 1H;Cyclosporin A;Mycophenolate mofetil;Intravenous immunoglobulin (IVIG)
15 Tocilizumab and Hemophagocytic Lymphohistiocytosis (HLH) Recruiting NCT02007239 Phase 2 tocilizumab
16 Treatment of Familiar Lymphohistiocytosis Recruiting NCT02472054 Phase 1, Phase 2 Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
17 Alemtuzumab or Tocilizumab in Combination With Etoposide and Dexamethasone for the Treatment of Adult Patients With Hemophagocytic Lymphohistiocytosis Recruiting NCT02385110 Phase 2 Alemtuzumab;Etoposide;Dexamethasone;Methotrexate;Tocilizumab
18 A Study to Investigate the Safety and Efficacy of an Anti-IFN-gamma mAb in Children With Systemic Juvenile Idiopathic Arthritis (sJIA) Developing Macrophage Activation Syndrome/ Secondary Hemophagocytic Lymphohistiocytosis (MAS/sHLH) Recruiting NCT03311854 Phase 2 NI-0501
19 T Cell Depletion for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Recruiting NCT00368355 Phase 2 Ara-C;Cyclophosphamide
20 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
21 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
22 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
23 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
24 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
25 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
26 Administration of Donor T Cells With the Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
27 CASPALLO: Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene Active, not recruiting NCT00710892 Phase 1
28 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
29 Children and Adult Hemophagocytic Syndrome (HLHa) Unknown status NCT02113917
30 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;filgrastim;methotrexate
31 New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
32 The Prognostic and Diagnostic Value of Ferritin in Critically Ill Patients With Special Focus on Underlying Hemophagocytic Lymphohistiocytosis Completed NCT02854943
33 Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity Completed NCT01125319 Not Applicable
34 Ceftriaxone in Non-neutropenic Fever Completed NCT01225718
35 Biomarkers in Blood and Tissue Samples From Patients With Epstein-Barr Virus-Positive Hodgkin Lymphoma Completed NCT01490801
36 Investigation of the Role of FHL-1 and Myostatin in Intensive Care Unit Acquired Paresis (ICUAP) Completed NCT01321320 Not Applicable
37 Study to Evaluate Interferon Gamma (IFNγ) and Other Inflammatory Mediators in Patients With Malignancy-Associated Hemophagocytic Lymphohistiocytosis (M-HLH) Recruiting NCT03259230
38 Prospective Cohort for Adult Hemophagocytosis Recruiting NCT03117010 Steroids;Etoposide
39 A Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome Recruiting NCT02400463 Early Phase 1 Ruxolitinib
40 Long-term Follow-up of HLH Patients Who Received Treatment With NI-0501, an Anti-interferon Gamma Monoclonal Antibody Recruiting NCT02069899 Not Applicable NI-0501
41 Intensive Care Unit and Secondary and Primary Immune Deficiency Recruiting NCT02888535
42 Early Detection of Epstein-Barr Virus Related Disease. Recruiting NCT03546101
43 Transfusion-related EBV Infection Among Allogeneic Stem Cell Transplant Pediatric Recipients Recruiting NCT02505789
44 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
45 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
46 Methylprednisolone for Children With Severe Mycoplasma Pneumoniae Pneumonia (MCMP) Recruiting NCT02303587 Not Applicable methylprednisolone
47 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
48 Diagnostic Biomarkers for Adult Hemophagocytic Lymphohistiocytosis in Critically Ill Patients (HEMICU) Not yet recruiting NCT03510650
49 Surveillance and Tracking the Outcomes of Chronic Latent EBV Infection Not yet recruiting NCT03491605
50 Pilot Study of Etoposide-based Therapy and Hematopoietic Cell Transplantation for Hemophagocytic Lymphohistiocytosis Terminated NCT01547143 Not Applicable IST and/or alloHCT

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hemophagocytic Lymphohistiocytosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hemophagocytic Lymphohistiocytosis:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Hemophagocytic Lymphohistiocytosis:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905

Cochrane evidence based reviews: lymphohistiocytosis, hemophagocytic

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:

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

Publications for Hemophagocytic Lymphohistiocytosis

Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 869)
# Title Authors Year
1
Outcomes of Children with Hemophagocytic Lymphohistiocytosis Given Allogeneic Hematopoietic Stem Cell Transplantation in Italy. ( 29410181 )
2018
2
Hemophagocytic lymphohistiocytosis. ( 29904309 )
2018
3
Epstein-Barr Virus (EBV)-induced B-cell Lymphoproliferative Disorder Mimicking the Recurrence of EBV-associated Hemophagocytic Lymphohistiocytosis. ( 29324572 )
2018
4
Epstein-Barr Virus-associated Hemophagocytic Lymphohistiocytosis in Adults: A Retrospective Analysis of 23 Patients in China. ( 29431300 )
2018
5
Hemophagocytic Lymphohistiocytosis in Cutaneous T-Cell Lymphoma. ( 29874360 )
2018
6
EBV-associated hemophagocytic lymphohistiocytosis complicated by severe coagulation disorders and opportunistic infections: case report of a survivor. ( 29375849 )
2018
7
The influence of various therapeutic regimens on early clinical and laboratory response and outcome of children with secondary hemophagocytic lymphohistiocytosis. ( 29379544 )
2018
8
Onset of Hemophagocytic Lymphohistiocytosis during Piperacillin-Tazobactam Therapy in Three Children with Acute Focal Bacterial Nephritis. ( 29798969 )
2018
9
A patient with severe fever with thrombocytopenia syndrome and hemophagocytic lymphohistiocytosis-associated involvement of the central nervous system. ( 29138019 )
2018
10
Parvovirus B19-associated Hemophagocytic Lymphohistiocytosis in a Patient With Glucose-6-phosphate Dehydrogenase Deficiency. ( 29432306 )
2018
11
Hemophagocytic Lymphohistiocytosis: A Case Series. ( 29963339 )
2018
12
Peripheral hemophagocytosis: A rapid clue to severe sepsis and hemophagocytic lymphohistiocytosis. ( 29887209 )
2018
13
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome. ( 29524015 )
2018
14
Quantitative PCR Assays of Cytomegalovirus and Epstein-Barr Virus in Hemophagocytic Lymphohistiocytosis. ( 29313310 )
2018
15
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China. ( 29357941 )
2018
16
Dual Threat of Epstein-Barr Virus: an Autopsy Case Report of HIV-Positive Plasmablastic Lymphoma Complicating EBV-Associated Hemophagocytic Lymphohistiocytosis. ( 29687211 )
2018
17
CD8 T Cell Memory Increases Immunopathology in the Perforin-Deficient Model of Hemophagocytic Lymphohistiocytosis Secondary to TNF-I+. ( 29795796 )
2018
18
Pregnancy-related Hemophagocytic Lymphohistiocytosis Associated with Herpes Simplex Virus-2 Infection: A Diagnostic Dilemma. ( 29796364 )
2018
19
Bone marrow histomorphologic criteria can accurately diagnose hemophagocytic lymphohistiocytosis. ( 29903767 )
2018
20
Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report. ( 29783935 )
2018
21
Ruxolitinib as First-Line Treatment in Secondary Hemophagocytic Lymphohistiocytosis: A Second Experience. ( 29417621 )
2018
22
Hemophagocytic lymphohistiocytosis with immunotherapy: brief review and case report. ( 29871698 )
2018
23
Hemophagocytic Lymphohistiocytosis Secondary to T Cell/Histiocyte-rich Large B Cell Lymphoma in an Adolescent Male. ( 29187030 )
2018
24
Hypofibrinogenemia Is Associated With Poor Outcome and Secondary Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in Pediatric Severe Sepsis. ( 29470247 )
2018
25
<i>ALK</i>-Negative Anaplastic Large Cell Lymphoma Presenting as Disseminated Intravascular Coagulation and Hemophagocytic Lymphohistiocytosis: A Potentially Fatal Presentation. ( 29850298 )
2018
26
Haploidentical hematopoietic stem cell transplantation for adult patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. ( 28573910 )
2018
27
Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in adults and adolescents-a life-threatening disease: analysis of 133 cases from a single center. ( 29957156 )
2018
28
Hyperferritinemia in Hemophagocytic Lymphohistiocytosis: A Single Institution Experience in Pediatric Patients. ( 29371779 )
2018
29
Initial Characteristics and Clinical Severity of Hemophagocytic Lymphohistiocytosis in Pediatric Patients Admitted in the Emergency Department. ( 29794953 )
2018
30
Low-Frequency Sensorineural Hearing Loss in Familial Hemophagocytic Lymphohistiocytosis Type 5. ( 29776323 )
2018
31
Hemophagocytic lymphohistiocytosis in adults. ( 29966474 )
2018
32
Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa. ( 29705274 )
2018
33
Successful Treatment of Hemophagocytic Lymphohistiocytosis Associated with Low-risk Myelodysplastic Syndrome by Azacitidine. ( 29780114 )
2018
34
Hemophagocytic Lymphohistiocytosis: A Confusing Problem of the Diagnosis of Visceral Leishmaniasis. ( 29398821 )
2018
35
Infection-associated Hemophagocytic Lymphohistiocytosis: An Unusual Clinical Masquerader. ( 29900092 )
2018
36
Hemophagocytic lymphohistiocytosis (HLH) secondary to disseminated histoplasmosis in the setting of Acquired Immunodeficiency Syndrome (AIDS). ( 29657917 )
2018
37
Suspected thrombotic microangiopathy in a child with Epstein-Barr virus-induced hemophagocytic lymphohistiocytosis. ( 29411928 )
2018
38
Differentiation between incomplete Kawasaki disease and secondary hemophagocytic lymphohistiocytosis following Kawasaki disease using N-terminal pro-brain natriuretic peptide. ( 29853942 )
2018
39
Hemophagocytic Lymphohistiocytosis Secondary to Unknown Underlying Hodgkin Lymphoma Presenting with a Cholestatic Pattern of Liver Injury. ( 29805352 )
2018
40
Hemophagocytic lymphohistiocytosis in an HIV-positive patient with concomitant disseminated histoplasmosis. ( 29433397 )
2018
41
Malignancy associated hemophagocytic lymphohistiocytosis in children. ( 29893316 )
2018
42
Hemophagocytic lymphohistiocytosis in patients with metastatic malignant melanoma. ( 28471834 )
2017
43
Lytic viral replication and immunopathology in a cytomegalovirus-induced mouse model of secondary hemophagocytic lymphohistiocytosis. ( 29258535 )
2017
44
An Overview of Hemophagocytic Lymphohistiocytosis. ( 28806468 )
2017
45
Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis. ( 28936583 )
2017
46
Infection Associated Secondary Hemophagocytic Lymphohistiocytosis in Sepsis Syndromes - A Tip of an Iceberg. ( 29319247 )
2017
47
An unusual association between hemophagocytic lymphohistiocytosis, mixed connective tissue disease, and autoimmune hemolytic anemia: A case report. ( 28700492 )
2017
48
Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome. ( 28807357 )
2017
49
A systematic review of malignancy-associated hemophagocytic lymphohistiocytosis that needs more attentions. ( 28938698 )
2017
50
A Case of Primary Bone Marrow Diffuse Large B-cell Lymphoma Presenting With Fibrillar Projections and Hemophagocytic Lymphohistiocytosis. ( 28840996 )
2017

Variations for Hemophagocytic Lymphohistiocytosis

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis:

6
(show top 50) (show all 436)
# Gene Variation Type Significance SNP ID Assembly Location
1 UNC13D NM_199242.2(UNC13D): c.1389+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs777759523 GRCh37 Chromosome 17, 73832419: 73832419
2 UNC13D NM_199242.2(UNC13D): c.1389+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs777759523 GRCh38 Chromosome 17, 75836338: 75836338
3 PRF1 NM_001083116.2(PRF1): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs28933973 GRCh37 Chromosome 10, 72358804: 72358804
4 PRF1 NM_001083116.2(PRF1): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs28933973 GRCh38 Chromosome 10, 70599048: 70599048
5 UNC13D NM_199242.2(UNC13D): c.1228A> C (p.Ile410Leu) single nucleotide variant Uncertain significance rs117221419 GRCh38 Chromosome 17, 75836642: 75836642
6 UNC13D NM_199242.2(UNC13D): c.1228A> C (p.Ile410Leu) single nucleotide variant Uncertain significance rs117221419 GRCh37 Chromosome 17, 73832723: 73832723
7 UNC13D NM_199242.2(UNC13D): c.1579C> T (p.Arg527Trp) single nucleotide variant Benign/Likely benign rs75366116 GRCh37 Chromosome 17, 73831953: 73831953
8 UNC13D NM_199242.2(UNC13D): c.1579C> T (p.Arg527Trp) single nucleotide variant Benign/Likely benign rs75366116 GRCh38 Chromosome 17, 75835872: 75835872
9 STX11 NM_003764.3(STX11): c.146G> A (p.Arg49Gln) single nucleotide variant Benign/Likely benign rs17073498 GRCh37 Chromosome 6, 144507910: 144507910
10 STX11 NM_003764.3(STX11): c.146G> A (p.Arg49Gln) single nucleotide variant Benign/Likely benign rs17073498 GRCh38 Chromosome 6, 144186773: 144186773
11 STX11 NM_003764.3(STX11): c.546G> A (p.Glu182=) single nucleotide variant Conflicting interpretations of pathogenicity rs146949718 GRCh37 Chromosome 6, 144508310: 144508310
12 STX11 NM_003764.3(STX11): c.546G> A (p.Glu182=) single nucleotide variant Conflicting interpretations of pathogenicity rs146949718 GRCh38 Chromosome 6, 144187173: 144187173
13 STX11 NM_003764.3(STX11): c.829A> G (p.Thr277Ala) single nucleotide variant Benign/Likely benign rs9496891 GRCh38 Chromosome 6, 144187456: 144187456
14 STX11 NM_003764.3(STX11): c.829A> G (p.Thr277Ala) single nucleotide variant Benign/Likely benign rs9496891 GRCh37 Chromosome 6, 144508593: 144508593
15 PRF1 NM_001083116.2(PRF1): c.900C> T (p.His300=) single nucleotide variant Benign rs885822 GRCh37 Chromosome 10, 72358577: 72358577
16 PRF1 NM_001083116.2(PRF1): c.900C> T (p.His300=) single nucleotide variant Benign rs885822 GRCh38 Chromosome 10, 70598821: 70598821
17 PRF1 NM_001083116.2(PRF1): c.822C> T (p.Ala274=) single nucleotide variant Benign/Likely benign rs885821 GRCh37 Chromosome 10, 72358655: 72358655
18 PRF1 NM_001083116.2(PRF1): c.822C> T (p.Ala274=) single nucleotide variant Benign/Likely benign rs885821 GRCh38 Chromosome 10, 70598899: 70598899
19 PRF1 NM_001083116.2(PRF1): c.630C> T (p.Pro210=) single nucleotide variant Conflicting interpretations of pathogenicity rs144004164 GRCh38 Chromosome 10, 70599091: 70599091
20 PRF1 NM_001083116.2(PRF1): c.630C> T (p.Pro210=) single nucleotide variant Conflicting interpretations of pathogenicity rs144004164 GRCh37 Chromosome 10, 72358847: 72358847
21 PRF1 NM_001083116.2(PRF1): c.462A> G (p.Ala154=) single nucleotide variant Conflicting interpretations of pathogenicity rs116554195 GRCh38 Chromosome 10, 70600441: 70600441
22 PRF1 NM_001083116.2(PRF1): c.462A> G (p.Ala154=) single nucleotide variant Conflicting interpretations of pathogenicity rs116554195 GRCh37 Chromosome 10, 72360197: 72360197
23 UNC13D NM_199242.2(UNC13D): c.3252T> C (p.His1084=) single nucleotide variant Benign/Likely benign rs61753922 GRCh38 Chromosome 17, 75827986: 75827986
24 UNC13D NM_199242.2(UNC13D): c.3252T> C (p.His1084=) single nucleotide variant Benign/Likely benign rs61753922 GRCh37 Chromosome 17, 73824067: 73824067
25 UNC13D NM_199242.2(UNC13D): c.3198A> G (p.Glu1066=) single nucleotide variant Benign rs7210574 GRCh38 Chromosome 17, 75828040: 75828040
26 UNC13D NM_199242.2(UNC13D): c.3198A> G (p.Glu1066=) single nucleotide variant Benign rs7210574 GRCh37 Chromosome 17, 73824121: 73824121
27 UNC13D NM_199242.2(UNC13D): c.3078C> T (p.Pro1026=) single nucleotide variant Uncertain significance rs372034111 GRCh38 Chromosome 17, 75828860: 75828860
28 UNC13D NM_199242.2(UNC13D): c.3078C> T (p.Pro1026=) single nucleotide variant Uncertain significance rs372034111 GRCh37 Chromosome 17, 73824941: 73824941
29 UNC13D NM_199242.2(UNC13D): c.2943G> A (p.Glu981=) single nucleotide variant Likely benign rs35628234 GRCh38 Chromosome 17, 75830039: 75830039
30 UNC13D NM_199242.2(UNC13D): c.2943G> A (p.Glu981=) single nucleotide variant Likely benign rs35628234 GRCh37 Chromosome 17, 73826120: 73826120
31 UNC13D NM_199242.2(UNC13D): c.2896C> T (p.Arg966Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs118049905 GRCh37 Chromosome 17, 73826167: 73826167
32 UNC13D NM_199242.2(UNC13D): c.2896C> T (p.Arg966Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs118049905 GRCh38 Chromosome 17, 75830086: 75830086
33 UNC13D NM_199242.2(UNC13D): c.2782C> T (p.Arg928Cys) single nucleotide variant Benign/Likely benign rs35037984 GRCh38 Chromosome 17, 75830410: 75830410
34 UNC13D NM_199242.2(UNC13D): c.2782C> T (p.Arg928Cys) single nucleotide variant Benign/Likely benign rs35037984 GRCh37 Chromosome 17, 73826491: 73826491
35 UNC13D NM_199242.2(UNC13D): c.2599A> G (p.Lys867Glu) single nucleotide variant Benign rs1135688 GRCh38 Chromosome 17, 75831124: 75831124
36 UNC13D NM_199242.2(UNC13D): c.2599A> G (p.Lys867Glu) single nucleotide variant Benign rs1135688 GRCh37 Chromosome 17, 73827205: 73827205
37 UNC13D NM_199242.2(UNC13D): c.2448-8dupC duplication Benign rs3217698 GRCh37 Chromosome 17, 73827437: 73827437
38 UNC13D NM_199242.2(UNC13D): c.2448-8dupC duplication Benign rs3217698 GRCh38 Chromosome 17, 75831356: 75831356
39 UNC13D NM_199242.2(UNC13D): c.2298+15C> T single nucleotide variant Uncertain significance rs112341334 GRCh37 Chromosome 17, 73830391: 73830391
40 UNC13D NM_199242.2(UNC13D): c.2298+15C> T single nucleotide variant Uncertain significance rs112341334 GRCh38 Chromosome 17, 75834310: 75834310
41 UNC13D NM_199242.2(UNC13D): c.2052C> G (p.Leu684=) single nucleotide variant Conflicting interpretations of pathogenicity rs150861045 GRCh38 Chromosome 17, 75834657: 75834657
42 UNC13D NM_199242.2(UNC13D): c.2052C> G (p.Leu684=) single nucleotide variant Conflicting interpretations of pathogenicity rs150861045 GRCh37 Chromosome 17, 73830738: 73830738
43 UNC13D NM_199242.2(UNC13D): c.1992+5G> A single nucleotide variant Benign/Likely benign rs17581728 GRCh38 Chromosome 17, 75834915: 75834915
44 UNC13D NM_199242.2(UNC13D): c.1992+5G> A single nucleotide variant Benign/Likely benign rs17581728 GRCh37 Chromosome 17, 73830996: 73830996
45 UNC13D NM_199242.2(UNC13D): c.1977C> T (p.Thr659=) single nucleotide variant Benign/Likely benign rs2290770 GRCh37 Chromosome 17, 73831016: 73831016
46 UNC13D NM_199242.2(UNC13D): c.1977C> T (p.Thr659=) single nucleotide variant Benign/Likely benign rs2290770 GRCh38 Chromosome 17, 75834935: 75834935
47 UNC13D NM_199242.2(UNC13D): c.1744C> T (p.Leu582=) single nucleotide variant Likely benign rs75853379 GRCh38 Chromosome 17, 75835513: 75835513
48 UNC13D NM_199242.2(UNC13D): c.1744C> T (p.Leu582=) single nucleotide variant Likely benign rs75853379 GRCh37 Chromosome 17, 73831594: 73831594
49 UNC13D NM_199242.2(UNC13D): c.1056-13C> T single nucleotide variant Likely benign rs141030299 GRCh38 Chromosome 17, 75836931: 75836931
50 UNC13D NM_199242.2(UNC13D): c.1056-13C> T single nucleotide variant Likely benign rs141030299 GRCh37 Chromosome 17, 73833012: 73833012

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 GZMB IFNG IL18 IL2RA PRF1 TNF
2
Show member pathways
12.65 IFNG IL18 IL2RA SH2D1A TNF
3
Show member pathways
12.51 IFNG IL18 IL2RA TNF
4 12.41 GZMB IFNG IL2RA SH2D1A TNF
5
Show member pathways
12.33 GZMB IFNG PRF1 SH2D1A TNF
6
Show member pathways
12.31 IFNG IL18 IL2RA TNF
7 12.1 IFNG IL18 LAMP1 TNF
8
Show member pathways
12.04 GZMB PRF1 TNF XIAP
9 11.76 CD5 IL2RA TNF
10
Show member pathways
11.72 GZMB IFNG IL18 IL2RA
11 11.72 CD5 IFNG IL2RA LAMP1 TNF
12 11.71 IFNG IL18 TNF
13
Show member pathways
11.61 IFNG IL2RA TNF
14 11.4 IFNG IL18 TNF
15 11.38 IFNG IL18 TNF
16 11.26 GZMB IFNG IL18 IL2RA TNF
17 11.15 IFNG IL18 TNF
18 11.09 IFNG IL18 TNF
19
Show member pathways
10.96 IFNG IL2RA PRF1
20 10.9 IFNG IL18 IL2RA PRF1
21 10.81 RAB27A UNC13D
22
Show member pathways
10.81 GZMB IFNG IL2RA PRF1 TNF
23 10.66 RAB27A UNC13D

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 external side of plasma membrane GO:0009897 9.67 CD5 IL2RA LAMP1 TNF
2 exocytic vesicle GO:0070382 9.4 RAB27A UNC13D
3 SNARE complex GO:0031201 9.33 SNAP23 STX11 STXBP2
4 specific granule GO:0042581 9.32 SNAP23 STXBP2
5 azurophil granule GO:0042582 9.26 SNAP23 STXBP2
6 Weibel-Palade body GO:0033093 8.96 RAB27A UNC13D
7 cytolytic granule GO:0044194 8.8 LAMP1 PRF1 STXBP2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.92 LAMP1 RAB27A SNAP23 STXBP2 UNC13D
2 vesicle-mediated transport GO:0016192 9.85 AP3B1 RAB27A STX11 STXBP2
3 defense response to virus GO:0051607 9.76 IFNG LYST PRF1 UNC13D
4 humoral immune response GO:0006959 9.65 IFNG SH2D1A TNF
5 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.57 IFNG TNF
6 regulation of regulatory T cell differentiation GO:0045589 9.56 IFNG IL2RA
7 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.54 SNAP23 STX11
8 synaptic vesicle priming GO:0016082 9.51 SNAP23 UNC13B
9 regulation of mast cell degranulation GO:0043304 9.49 STXBP2 UNC13D
10 natural killer cell degranulation GO:0043320 9.43 RAB27A UNC13D
11 granzyme-mediated apoptotic signaling pathway GO:0008626 9.4 GZMB LAMP1
12 positive regulation of regulated secretory pathway GO:1903307 9.37 RAB27A UNC13D
13 positive regulation of killing of cells of other organism GO:0051712 9.32 IFNG PRF1
14 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.26 IFNG TNF
15 positive regulation of vitamin D biosynthetic process GO:0060557 9.16 IFNG TNF
16 natural killer cell mediated cytotoxicity GO:0042267 9.13 GZMB IL18 LYST
17 exocytosis GO:0006887 9.1 RAB27A SNAP23 STX11 STXBP2 UNC13B UNC13D

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 CD5 FHL2 GZMB IFNG IL18 IL2RA

Sources for Hemophagocytic Lymphohistiocytosis

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