MCID: HMP002
MIFTS: 59

Hemophagocytic Lymphohistiocytosis

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Hemophagocytic Lymphohistiocytosis

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis:

Name: Hemophagocytic Lymphohistiocytosis 11 75 5 14 36
Lymphohistiocytosis, Hemophagocytic 43 38 71
Haemophagocytic Syndrome 11 33
Histiocytoses of Mononuclear Phagocytes 33
Haemophagocytic Lymphohistiocytosis Nos 33
Familial Hemophagocytic Lymphocytosis 71
Lymphohistiocytosis Hemophagocytic 53
Hemophagocytic Syndrome 71

Classifications:



External Ids:

Disease Ontology 11 DOID:0050120
MeSH 43 D051359
NCIt 49 C34792
SNOMED-CT 68 190958003
ICD10 31 D76.1
ICD11 33 1523519942
UMLS 71 C0024291 C0272199 C3887558

Summaries for Hemophagocytic Lymphohistiocytosis

Disease Ontology: 11 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.

MalaCards based summary: Hemophagocytic Lymphohistiocytosis, also known as lymphohistiocytosis, hemophagocytic, is related to hemophagocytic lymphohistiocytosis, familial, 1 and hemophagocytic lymphohistiocytosis, familial, 3, and has symptoms including ataxia, hemiplegia and icterus. An important gene associated with Hemophagocytic Lymphohistiocytosis is UNC13D (Unc-13 Homolog D), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Etoposide and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, t cells and bone, and related phenotypes are cellular and immune system

Wikipedia: 75 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
Familial Hemophagocytic Lymphohistiocytosis 5 Secondary Hemophagocytic Lymphohistiocytosis

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

(show top 50) (show all 927)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 1 33.9 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
2 hemophagocytic lymphohistiocytosis, familial, 3 33.5 UNC13D STXBP2 STX11 SH2D1A RAB27A
3 hemophagocytic lymphohistiocytosis, familial, 2 33.5 UNC13D STXBP2 STX11 SH2D1A PRF1 FHL2
4 hemophagocytic lymphohistiocytosis, familial, 4 33.4 UNC13D STXBP2 STX11 RAB27A LYST FHL2
5 familial hemophagocytic lymphohistiocytosis 5 33.2 UNC13D STXBP2 STX11 SH2D1A LYST
6 lymphoproliferative syndrome, x-linked, 1 32.9 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
7 lymphoproliferative syndrome 1 32.8 UNC13D STXBP2 STX11 PRF1 IL2RA
8 macrophage activation syndrome 32.7 UNC13D RAB27A PRF1 IL18
9 lymphoproliferative syndrome, x-linked, 2 32.7 UNC13D STXBP2 STX11 SH2D1A RAB27A LYST
10 lymphoproliferative syndrome 2 32.7 UNC13D STXBP2 STX11 SH2D1A CD8A CD27
11 griscelli syndrome, type 2 32.4 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
12 griscelli syndrome 32.4 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
13 aplastic anemia 32.1 SH2D1A PRF1 IL10 IFNG GZMB CD8A
14 pancytopenia 32.0 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
15 leishmaniasis 31.9 IL18 IL10 IFNG GZMB
16 lymphoma 31.8 SH2D1A IL2RA HAVCR2 GZMB CD27 CCR6
17 exanthem 31.8 IL18 IL10 IFNG CD8A CCR6
18 viral infectious disease 31.8 IL2RA IL18 IL10 IFNG GZMB CCR6
19 lymphoproliferative syndrome 31.7 UNC13D SH2D1A PRF1 IL10 CD27 CCR6
20 lymphoma, hodgkin, classic 31.7 SH2D1A IL2RA GZMB CCR6
21 autoimmune disease 31.7 PRF1 IL2RA IL18 IL10 IFNG HAVCR2
22 dengue disease 31.6 IL10 CD8A CCR6 CCL5
23 juvenile rheumatoid arthritis 31.6 IL2RA IL18 CCR6
24 visceral leishmaniasis 31.6 IL2RA IL18 IL10 IFNG CD8A CCR6
25 adult-onset still's disease 31.5 UNC13D IL18 CCR6
26 acute graft versus host disease 31.5 IL2RA IL10 IFNG
27 pfeiffer syndrome 31.5 SH2D1A PRF1 IL10 CD8A CD27 CCR6
28 immune deficiency disease 31.5 SH2D1A RAB27A IL2RA IL18 IL10 IFNG
29 human cytomegalovirus infection 31.5 IL10 CD8A CCR6
30 scrub typhus 31.5 IL18 IL10 IFNG GZMB
31 respiratory failure 31.5 IL18 IL10 IFNG CD8A CCR6 CCL5
32 epidemic typhus 31.4 IL10 CD8A CCL5
33 miliary tuberculosis 31.4 IL10 IFNG CD8A
34 severe covid-19 31.4 IL18 IL10 IFNG CD8A CCR6
35 lymphadenitis 31.4 IL2RA IL18 IL10 IFNG CCR6
36 panniculitis 31.4 IL2RA IFNG HAVCR2 GZMB CD8A CCR6
37 dengue hemorrhagic fever 31.4 IL10 CD8A CCR6
38 severe acute respiratory syndrome 31.3 IL10 IFNG CCL5
39 hepatitis a 31.3 IL10 IFNG HAVCR2
40 leukemia, acute myeloid 31.3 PRF1 IL10 IFNG HAVCR2 GZMB CD8A
41 herpes zoster 31.3 IL10 IFNG CD8A CCR6
42 chickenpox 31.2 IL10 IFNG CD8A CD27 CCR6
43 peripheral t-cell lymphoma 31.2 IL2RA GZMB CD8A CCR6
44 lymphoma, non-hodgkin, familial 31.2 SH2D1A PRF1 IL2RA GZMB CD8A CD27
45 aspergillosis 31.2 IL18 IL10 IFNG CCR6 CCL5
46 chediak-higashi syndrome 31.2 UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
47 aggressive nk-cell leukemia 31.2 PRF1 GZMB CD8A
48 anemia, autoimmune hemolytic 31.2 IL10 CD8A CD27 CCR6
49 lymphopenia 31.2 IL2RA IL10 IFNG CCR6
50 brucellosis 31.2 IL18 IL10 IFNG

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 CD27 CD8A GZMB HAVCR2 IFNG IL10
2 immune system MP:0005387 9.91 CCL5 CCR6 CD27 CD8A GZMB HAVCR2
3 hematopoietic system MP:0005397 9.58 CCL5 CCR6 CD27 CD8A GZMB HAVCR2

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis

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

(show top 50) (show all 94)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 4 33419-42-0 36462
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
4
Pegaspargase Approved, Investigational Phase 4 130167-69-0
5
Cisplatin Approved Phase 4 15663-27-1 2767 5702198 441203
6
Gemcitabine Approved Phase 4 95058-81-4, 122111-03-9 60750
7 Antiviral Agents Phase 4
8 Anti-Infective Agents Phase 4
9 Antimetabolites Phase 4
10 Immunosuppressive Agents Phase 4
11 Immunologic Factors Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13
Etoposide phosphate Phase 4 16760419
14 Hormones Phase 4
15 Hormone Antagonists Phase 4
16 Antiemetics Phase 4
17 glucocorticoids Phase 4
18 Anti-Inflammatory Agents Phase 4
19 Gastrointestinal Agents Phase 4
20 Immunoglobulins Phase 4
21 Antibodies Phase 4
22 interferons Phase 4
23 Interferon-gamma Phase 4
24 Antibodies, Monoclonal Phase 4
25 Rue Phase 4
26
Lenalidomide Approved Phase 3 191732-72-6 216326
27
Zanubrutinib Approved, Investigational Phase 3 1691249-45-2 135565884
28
Rituximab Approved Phase 3 174722-31-7
29
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
30
Asparaginase Escherichia coli Approved, Investigational Phase 3 9015-68-3
31
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
32
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
33 Hydrocortisone-17-butyrate Phase 3
34 Antineoplastic Agents, Immunological Phase 3
35 Angiogenesis Inhibitors Phase 3
36 Protein Kinase Inhibitors Phase 3
37 Liposomal doxorubicin Phase 3
38 Alkylating Agents Phase 2, Phase 3
39 Antineoplastic Agents, Alkylating Phase 2, Phase 3
40 Thymoglobulin Phase 2, Phase 3
41
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
42
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
43
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
44
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
45
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 4894 5755
46
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5 1875
47
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 4159 6741
48
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
49
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
50
Hydrocortisone succinate Approved Phase 2 2203-97-6 3643

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 Clinical Study on the Treatment of Pediatric Hemophagocytic Lymphohistiocytosis Based on Cytokine Guided Risk Stratification:A Multicenter Randomized Controlled Study Recruiting NCT05491304 Phase 4 Dexamethasone;Etoposide;Ruxolitinib
2 A Prospective Clinical Study of Ruxolitinib Phosphate Tablets and Etoposide Combined With DDGP Regimen (RUE-DDGP) in Induction Therapy of T/NK Cell Lymphoma-associated Hemophagocytic Syndrome. Recruiting NCT04999878 Phase 4 Ruxolitinib, Etoposide, Dexamethasone, Gemcitabine, Pegaspargase, cis-platinum
3 A Clinical Trial of PD-1 Monoclonal Antibody as First-line Induction Therapy for EBV-associated Hemophagocytic Syndrome (EBV-HLH) or Chronic Active EBV Infection (CAEBV) Recruiting NCT05039580 Phase 4 PD-1 monoclonal antibody
4 A Prospective Study on the Modified DEP Regimen Induction Therapy in Lymphoma Induced Hemophagocytic Lymphohistiocytosis Unknown status NCT04077905 Phase 3 Pegylated liposomal doxorubicin;Etoposide;Methylprednisolone
5 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;IVIG
6 L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis Unknown status NCT02631109 Phase 3 Pegaspargase;doxorubicin;etoposide;methylprednisolone
7 Clinical Study of Different Doses of Ruxolitinib as a Salvage Therapy for Refractory/Relapsed Hemophagocytic Lymphohistiocytosis Unknown status NCT04120090 Phase 3 low dose ruxolitinib;high dose ruxolitinib
8 DEP-ruxolitinib Regimen as a Salvage Therapy for Refractory/Relapsed Hemophagocytic Lymphohistiocytosis Unknown status NCT03533790 Phase 3 DEP-Ru
9 Hemophagocytic Lymphohistiocytosis Unknown status NCT00334672 Phase 3 busulfan;cyclophosphamide;cyclosporine;dexamethasone;etoposide;methotrexate;mycophenolate mofetil;therapeutic hydrocortisone
10 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
11 Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology Unknown status NCT02862054 Phase 2, Phase 3
12 A Multicenter Study for the Long-term Follow-up of HLH Patients Who Received Treatment With NI-0501, an Anti-interferon Gamma Monoclonal Antibody Completed NCT02069899 Phase 2, Phase 3 Emapalumab
13 HLH-2004 Treatment Protocol Completed NCT00426101 Phase 3 Dexamethasone;Etoposide;Cyclosporin
14 A Phase 2/3, Open-label, Single Arm, Multicentre Study to Assess Safety, Tolerability, Pharmacokinetics and Efficacy of Intravenous Multiple Administrations of NI-0501, an Anti-interferon Gamma (Anti-IFNγ) Monoclonal Antibody, in Paediatric Patients With Primary Haemophagocytic Lymphohistiocytosis Completed NCT01818492 Phase 2, Phase 3
15 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
16 Zanubrutinib Monotherapy in Patients With Hemophagocytic Lymphohistiocytosis Recruiting NCT05320575 Phase 3 Zanubrutinib
17 Rituximab Monotherapy for Epstein-Barr Virus Associated Hemophagocytic Lymphohistiocytosis and Chronic Active Epstein-Barr Virus Infection With Only and Mainly B Lymphocytes of EBV Infection Recruiting NCT05384743 Phase 3 Rituximab Monotherapy
18 A Two-cohort, Open-label, Single Arm, Multicenter Study to Evaluate Efficacy, Safety and Tolerability, PK and PD, of Emapalumab in Children and Adults With MAS in Still's Disease or With MAS in Systemic Lupus Erythematous Recruiting NCT05001737 Phase 3 Emapalumab
19 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 Active, not recruiting NCT03312751 Phase 3 Emapalumab
20 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 Active, not recruiting NCT03985423 Phase 2, Phase 3 Emapalumab-Lzsg
21 L-DEP/DEP Regimen and PD-1 Antibody as a Treatment for Relapse/Refractory EBV Associated Hemophagocytic Lymphohistiocytosis (HLH) Not yet recruiting NCT05315336 Phase 3 L-DEP and PD-1 antibody
22 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
23 Ruxolitinib Combined With Dexamethasone for Pediatric Refractory and Secondary Hemophagocytic Lymphohistiocytosis Unknown status NCT03795909 Phase 1, Phase 2 Ruxolitinib;Dexamethasone
24 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
25 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
26 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2
27 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)
28 First Line Treatment of Familiar Lymphohistiocytosis by Alemtuzumab (CAMPATH®) Completed NCT02472054 Phase 1, Phase 2 Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
29 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
30 A Pilot, Open-label, Single Arm, Multicenter Study to Evaluate Safety, Tolerability, Pharmacokinetics and Efficacy of Intravenous Administrations of Emapalumab, an Anti-interferon Gamma (Anti-IFNγ) Monoclonal Antibody, in Patients With Systemic Juvenile Idiopathic Arthritis (sJIA) or Adult-onset Still's Disease (AOSD) Developing Macrophage Activation Syndrome/Secondary HLH (MAS/sHLH) Completed NCT03311854 Phase 2 Emapalumab
31 Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome Completed NCT02400463 Phase 2 Ruxolitinib
32 Use Of A Response-Adapted Ruxolitinib-Containing Regimen For The Treatment Of Hemophagocytic Lymphohistiocytosis Recruiting NCT04551131 Phase 1, Phase 2 Ruxolitinib;Dexamethasone;Etoposide
33 An Open-label, Single-arm, Multicohort, Phase 2 Study to Assess the Efficacy and Safety of Tabelecleucel in Subjects With Epstein-Barr Virus-associated Diseases Recruiting NCT04554914 Phase 2
34 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
35 Alemtuzumab or Tocilizumab in Combination With Etoposide and Dexamethasone for the Treatment of Adult Patients With Hemophagocytic Lymphohistiocytosis Active, not recruiting NCT02385110 Phase 2 Alemtuzumab;Etoposide;Dexamethasone;Methotrexate;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 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Active, not recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
38 Cytokine Blockade With Tocilizumab in Patients With Cytokine Release Syndrome and Hemophagocytic Lymphohistiocytosis Withdrawn NCT02007239 Phase 2 tocilizumab
39 A Single-arm, Open-label, Phase I Study of TQ05105 Tablets in Subjects With Hemophagocytic Lymphohistiocytosis. Unknown status NCT04326348 Phase 1 TQ05105
40 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
41 Efficacy and Safety of Venetoclax Combined With Dexamethasone and Etoposide in the Treatment of Hemophagocytic Lymphohistiocytosis Recruiting NCT05546060 Phase 1 Venetoclax;Dexamethasone;Etoposide
42 A Phase 1b, Open-label, Single-arm, Multicenter Study to Evaluate the Safety, Efficacy, Pharmacokinetics and Pharmacodynamics of Multiple Doses of ELA026 in Adults and Adolescents With Secondary Hemophagocytic Lymphohistiocytosis (sHLH) Recruiting NCT05416307 Phase 1 ELA026
43 Administration of Haploidentical Donor T Cells Transduced With the Inducible Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1 AP1903
44 A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
45 Establishing a Covid-19 Prospective Cohort to Document Cases of Secondary Hemophagocytic Lymphohistiocytosis (sHLH, Synonoums to Macrophage Activation Syndrome) Unknown status NCT04347460
46 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
47 Comparison of Predictive Ability of New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
48 Early Detection of Epstein-Barr Virus Related Disease. Improving Quantification of EBV in Blood Samples Using Polymerase Chain Reaction. Unknown status NCT03546101
49 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 Unknown status NCT04500886 PEG-rhG-CSF;rhG-CSF
50 Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity Completed NCT01125319

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

Anatomical Context for Hemophagocytic Lymphohistiocytosis

Organs/tissues related to Hemophagocytic Lymphohistiocytosis:

MalaCards : Bone Marrow, T Cells, Bone, Liver, Nk Cells, Myeloid, Kidney

Publications for Hemophagocytic Lymphohistiocytosis

Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 3993)
# Title Authors PMID Year
1
Prolonged course of familial hemophagocytic lymphohistiocytosis. 53 62 5
17164654 2006
2
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. 53 62 5
16860143 2006
3
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 53 62 5
16278825 2006
4
A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. 53 62 5
15755897 2005
5
The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India. 62 5
33746956 2021
6
Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy. 62 5
31789783 2020
7
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis. 62 5
32638196 2020
8
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. 62 5
32542393 2020
9
Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China. 62 5
32375849 2020
10
Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review. 62 5
30849948 2019
11
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP. 62 5
29665027 2018
12
Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis. 62 5
29549174 2018
13
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation. 62 5
29152263 2017
14
Finding a Balance between Protection and Pathology: The Dual Role of Perforin in Human Disease. 62 5
28757574 2017
15
Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement. 62 5
29312353 2017
16
A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients. 62 5
27896523 2017
17
Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D. 62 5
28848550 2017
18
Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations. 62 5
26184781 2015
19
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India. 62 5
25577959 2015
20
Unusual clinical presentations of familial hemophagocytic lymphohistiocytosis type-2. 62 5
24390453 2014
21
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. 62 5
24916509 2014
22
Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency. 62 5
24842371 2014
23
Syntaxin binding mechanism and disease-causing mutations in Munc18-2. 62 5
24194549 2013
24
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients. 62 5
23592409 2013
25
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. 62 5
23180437 2013
26
Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis. 62 5
23264592 2013
27
Familial Hemophagocytic Lymphohistiocytosis with A665G Perforin Gene Mutation: A Case Report. 62 5
24744671 2012
28
Spinal cord involvement in a child with familial hemophagocytic lymphohistiocytosis. 62 5
23560006 2012
29
Munc18b/STXBP2 is required for platelet secretion. 62 5
22791290 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. 62 5
22437823 2012
31
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). 62 5
22451424 2012
32
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. 62 5
21931115 2011
33
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. 62 5
20823128 2010
34
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. 62 5
20558610 2010
35
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. 62 5
19884660 2009
36
Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis. 62 5
19595804 2009
37
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. 62 5
19804848 2009
38
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. 62 5
19487666 2009
39
Severe course of community-acquired pneumonia in an adult patient who is heterozygous for Q481P in the perforin gene: are carriers of the mutation free of risk? 62 5
19639728 2009
40
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. 62 5
18710388 2008
41
Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations. 62 5
18190960 2008
42
Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. 62 5
17266056 2007
43
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. 62 5
16778144 2006
44
Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. 62 5
16374518 2006
45
A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis. 62 5
16443553 2006
46
Development of hemophagocytic lymphohistiocytosis in triplets infected with HHV-8. 62 5
15840696 2005
47
Unusual immunophenotype of CD8+ T cells in familial hemophagocytic lymphohistiocytosis. 62 5
15205266 2004
48
The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene. 62 5
15365097 2004
49
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 62 5
11179007 2001
50
Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 62 5
10583959 1999

Variations for Hemophagocytic Lymphohistiocytosis

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis:

5 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UNC13D NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly) SNV Pathogenic
445606 rs754621494 GRCh37: 17:73831491-73831491
GRCh38: 17:75835410-75835410
2 PRF1 NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys) SNV Pathogenic
976231 rs758110629 GRCh37: 10:72358696-72358696
GRCh38: 10:70598940-70598940
3 PRF1 NM_001083116.3(PRF1):c.666C>A (p.His222Gln) SNV Pathogenic
280112 rs751247865 GRCh37: 10:72358811-72358811
GRCh38: 10:70599055-70599055
4 PRF1 NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) SNV Pathogenic
1067731 GRCh37: 10:72358249-72358249
GRCh38: 10:70598493-70598493
5 PRF1 NM_001083116.3(PRF1):c.148G>A (p.Val50Met) SNV Pathogenic
802584 rs776299562 GRCh37: 10:72360511-72360511
GRCh38: 10:70600755-70600755
6 PRF1 NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) SNV Pathogenic
548929 rs768849283 GRCh37: 10:72360273-72360273
GRCh38: 10:70600517-70600517
7 UNC13D NM_199242.3(UNC13D):c.118-308C>T SNV Pathogenic
533095 rs959968589 GRCh37: 17:73839908-73839908
GRCh38: 17:75843827-75843827
8 UNC13D NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys) SNV Pathogenic
533094 rs750811263 GRCh37: 17:73832711-73832711
GRCh38: 17:75836630-75836630
9 STXBP2 NM_006949.4(STXBP2):c.1247-1G>C SNV Pathogenic
330555 rs140148806 GRCh37: 19:7710082-7710082
GRCh38: 19:7645196-7645196
10 PRF1 NM_001083116.3(PRF1):c.50del (p.Leu17fs) DEL Pathogenic
468305 rs147035858 GRCh37: 10:72360609-72360609
GRCh38: 10:70600853-70600853
11 PRF1 NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) SNV Pathogenic
13711 rs28933973 GRCh37: 10:72358804-72358804
GRCh38: 10:70599048-70599048
12 UNC13D NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter) SNV Likely Pathogenic
664792 rs1157287613 GRCh37: 17:73838563-73838563
GRCh38: 17:75842482-75842482
13 STXBP2 NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) SNV Likely Pathogenic
579782 rs930347206 GRCh37: 19:7705849-7705849
GRCh38: 19:7640963-7640963
14 STXBP2 NM_006949.4(STXBP2):c.247-2A>C SNV Likely Pathogenic
857426 rs921624651 GRCh37: 19:7705615-7705615
GRCh38: 19:7640729-7640729
15 UNC13D NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) SNV Likely Pathogenic
632290 rs377293829 GRCh37: 17:73831518-73831518
GRCh38: 17:75835437-75835437
16 PRF1 NM_001083116.3(PRF1):c.3G>A (p.Met1Ile) SNV Likely Pathogenic
1301336 GRCh37: 10:72360656-72360656
GRCh38: 10:70600900-70600900
17 PRF1 NM_001083116.3(PRF1):c.1183T>C (p.Cys395Arg) SNV Likely Pathogenic
1683276 GRCh37: 10:72358294-72358294
GRCh38: 10:70598538-70598538
18 PRF1 NM_001083116.3(PRF1):c.1628dup (p.Glu545fs) DUP Likely Pathogenic
1020734 rs1564723449 GRCh37: 10:72357848-72357849
GRCh38: 10:70598092-70598093
19 PRF1 NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) SNV Likely Pathogenic
1331382 GRCh37: 10:72358035-72358035
GRCh38: 10:70598279-70598279
20 PRF1 NM_001083116.3(PRF1):c.256C>T (p.Gln86Ter) SNV Likely Pathogenic
667424 rs1589233357 GRCh37: 10:72360403-72360403
GRCh38: 10:70600647-70600647
21 PRF1 NM_001083116.3(PRF1):c.985dup (p.Val329fs) DUP Likely Pathogenic
974965 rs1848171715 GRCh37: 10:72358491-72358492
GRCh38: 10:70598735-70598736
22 PRF1 NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs) MICROSAT Likely Pathogenic
1027586 rs1361687182 GRCh37: 10:72358286-72358287
GRCh38: 10:70598530-70598531
23 PRF1 NM_001083116.3(PRF1):c.91T>G (p.Cys31Gly) SNV Likely Pathogenic
1192232 GRCh37: 10:72360568-72360568
GRCh38: 10:70600812-70600812
24 STX11 NM_003764.4(STX11):c.*1221dup DUP Conflicting Interpretations Of Pathogenicity
355616 rs397725572 GRCh37: 6:144509845-144509846
GRCh38: 6:144188708-144188709
25 STX11 NM_003764.4(STX11):c.*3104del DEL Uncertain Significance
355645 rs558797705 GRCh37: 6:144511721-144511721
GRCh38: 6:144190584-144190584
26 STX11 NM_003764.4(STX11):c.*1253dup DUP Uncertain Significance
355617 rs11356106 GRCh37: 6:144509862-144509863
GRCh38: 6:144188725-144188726
27 STX11 NM_003764.4(STX11):c.*939_*942del DEL Uncertain Significance
355612 rs886061145 GRCh37: 6:144509564-144509567
GRCh38: 6:144188427-144188430
28 STX11 NM_003764.4(STX11):c.*3103_*3104del DEL Uncertain Significance
355646 rs558797705 GRCh37: 6:144511721-144511722
GRCh38: 6:144190584-144190585
29 STX11 NM_003764.4(STX11):c.*4053_*4054dup DUP Uncertain Significance
355660 rs397795966 GRCh37: 6:144512671-144512672
GRCh38: 6:144191534-144191535
30 STX11 NM_003764.4(STX11):c.*2157GAG[1] MICROSAT Uncertain Significance
355633 rs886061152 GRCh37: 6:144510783-144510785
GRCh38: 6:144189646-144189648
31 STX11 NM_003764.4(STX11):c.*3336T>C SNV Uncertain Significance
355650 rs886061161 GRCh37: 6:144511964-144511964
GRCh38: 6:144190827-144190827
32 STX11 NM_003764.4(STX11):c.*1254del DEL Uncertain Significance
355619 rs886061148 GRCh37: 6:144509882-144509882
GRCh38: 6:144188745-144188745
33 STX11 NM_003764.4(STX11):c.*2014del DEL Uncertain Significance
355632 rs886061151 GRCh37: 6:144510640-144510640
GRCh38: 6:144189503-144189503
34 STX11 NM_003764.4(STX11):c.*770C>T SNV Uncertain Significance
355610 rs886061144 GRCh37: 6:144509398-144509398
GRCh38: 6:144188261-144188261
35 STX11 NM_003764.4(STX11):c.*1251_*1253dup DUP Uncertain Significance
355618 rs11356106 GRCh37: 6:144509862-144509863
GRCh38: 6:144188725-144188726
36 STXBP2 NM_006949.4(STXBP2):c.578+11dup DUP Uncertain Significance
330549 rs886054704 GRCh37: 19:7706746-7706747
GRCh38: 19:7641860-7641861
37 STX11 NM_003764.4(STX11):c.*2657TTC[2] MICROSAT Uncertain Significance
355638 rs886061154 GRCh37: 6:144511284-144511286
GRCh38: 6:144190147-144190149
38 STX11 NM_003764.4(STX11):c.-71C>T SNV Uncertain Significance
355596 rs886061140 GRCh37: 6:144471775-144471775
GRCh38: 6:144150638-144150638
39 STX11 NM_003764.4(STX11):c.*3104dup DUP Uncertain Significance
355644 rs558797705 GRCh37: 6:144511720-144511721
GRCh38: 6:144190583-144190584
40 STXBP2 NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly) SNV Uncertain Significance
330552 rs370890802 GRCh37: 19:7707663-7707663
GRCh38: 19:7642777-7642777
41 UNC13D NM_199242.3(UNC13D):c.1596+15C>G SNV Uncertain Significance
325262 rs574478720 GRCh37: 17:73831921-73831921
GRCh38: 17:75835840-75835840
42 STXBP2 NM_006949.4(STXBP2):c.849G>A (p.Glu283=) SNV Uncertain Significance
260110 rs34450592 GRCh37: 19:7707369-7707369
GRCh38: 19:7642483-7642483
43 STX11 NM_003764.4(STX11):c.24_26del (p.Leu9del) DEL Uncertain Significance
355597 rs760492745 GRCh37: 6:144507786-144507788
GRCh38: 6:144186649-144186651
44 STXBP2 NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) SNV Uncertain Significance
330559 rs35490401 GRCh37: 19:7712287-7712287
GRCh38: 19:7647401-7647401
45 STXBP2 NM_006949.4(STXBP2):c.495C>T (p.Arg165=) SNV Likely Benign
260105 rs2303116 GRCh37: 19:7706656-7706656
GRCh38: 19:7641770-7641770
46 STX11 NM_003764.3(STX11):c.*4457G>A SNV Likely Benign
369515 rs59612420 GRCh37: 6:144513085-144513085
GRCh38: 6:144191948-144191948
47 STX11 NM_003764.4(STX11):c.*1540dup DUP Likely Benign
355626 rs149740241 GRCh37: 6:144510162-144510163
GRCh38: 6:144189025-144189026
48 STX11 NM_003764.4(STX11):c.*3036ATAA[1] MICROSAT Likely Benign
355643 rs146440209 GRCh37: 6:144511663-144511666
GRCh38: 6:144190526-144190529
49 STX11 NM_003764.4(STX11):c.*4054dup DUP Benign
355659 rs397795966 GRCh37: 6:144512671-144512672
GRCh38: 6:144191534-144191535
50 PRF1 NM_001083116.3(PRF1):c.*209del DEL Benign
300321 rs34914326 GRCh37: 10:72357600-72357600
GRCh38: 10:70597844-70597844

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 CCL5 CCR6 CD27 CD8A HAVCR2 IFNG
2
Show member pathways
13.16 STXBP2 IL2RA IL18 IL10 IFNG HAVCR2
3 12.07 SH2D1A IL2RA IL10 IFNG HAVCR2 GZMB
4 11.92 LAMP1 IL2RA IL10 IFNG CD8A
5
Show member pathways
11.88 IL2RA IL18 IFNG GZMB CD8A
6
Show member pathways
11.77 IL18 IL10 IFNG
7 11.73 PRF1 IL2RA IL10 IFNG GZMB
8 11.61 IL10 IFNG CD8A
9
Show member pathways
11.5 IL18 IL10 IFNG
10 11.43 IL10 HAVCR2 CCL5
11 11.41 IFNG IL10 IL18 IL2RA
12 11.38 IL18 IL10 CCL5
13 11.36 IL2RA IL10 IFNG
14
Show member pathways
11.26 GZMB IFNG IL10 IL2RA
15 11.07 PRF1 IL2RA IFNG
16 11.07 IL2RA IL18 IL10 IFNG GZMB CD8A
17 11.05 PRF1 IFNG GZMB CCL5
18 10.99 PRF1 IL2RA IL18 IFNG
19 10.8 UNC13D RAB27A
20 10.66 UNC13D RAB27A
21 10.58 IL2RA IFNG

GO Terms for Hemophagocytic Lymphohistiocytosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.2 UNC13D STXBP2 RAB27A PRF1 IL18 IL10
2 Weibel-Palade body GO:0033093 9.26 UNC13D RAB27A
3 cytolytic granule GO:0044194 9.17 STXBP2 PRF1 LAMP1 GZMB

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular defense response GO:0006968 9.99 SH2D1A PRF1 CCR6
2 positive regulation of chemokine production GO:0032722 9.88 IL18 IFNG HAVCR2
3 negative regulation of T cell proliferation GO:0042130 9.85 HAVCR2 IL10 IL2RA
4 immune response GO:0006955 9.85 IL2RA IL18 IL10 IFNG CD8A CCR6
5 natural killer cell degranulation GO:0043320 9.83 UNC13D RAB27A
6 type 2 immune response GO:0042092 9.8 IL18 IL10
7 granzyme-mediated programmed cell death signaling pathway GO:0140507 9.78 LAMP1 GZMB
8 positive regulation of killing of cells of another organism GO:0051712 9.76 PRF1 IFNG
9 negative regulation of interferon-alpha production GO:0032687 9.73 IL10 HAVCR2
10 positive regulation of regulated secretory pathway GO:1903307 9.62 UNC13D RAB27A
11 negative regulation of myeloid dendritic cell activation GO:0030886 9.56 IL10 HAVCR2
12 exocytosis GO:0006887 9.56 UNC13D STXBP2 STX11 RAB27A CCL5
13 natural killer cell mediated cytotoxicity GO:0042267 9.23 SH2D1A LYST IL18 GZMB

Sources for Hemophagocytic Lymphohistiocytosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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