Hemophagocytic Lymphohistiocytosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HMP002 MIFTS: 54	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 ¹² ⁷⁴ ¹⁵ ³⁷

Lymphohistiocytosis, Hemophagocytic ⁴³ ⁷¹

Familial Hemophagocytic Lymphocytosis ⁷¹

Lymphohistiocytosis Hemophagocytic ⁵⁴

Haemophagocytic Syndrome ¹²

Hemophagocytic Syndrome ⁷¹

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Neuronal diseases Liver diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Other specified diseases with participation of lymphoreticular and reticulohistiocytic tissue

Haemophagocytic lymphohistiocytosis

External Ids:

Disease Ontology ¹² DOID:0050120

MeSH ⁴³ D051359

NCIt ⁴⁹ C34792

ICD10 ³² D76.1

UMLS ⁷¹ C0024291 C0272199 C3887558

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Summaries for Hemophagocytic Lymphohistiocytosis

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.

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, also known as lymphohistiocytosis, hemophagocytic, is related to hemophagocytic lymphohistiocytosis, familial, 2 and hemophagocytic lymphohistiocytosis, familial, 5, and has symptoms including seizures, ataxia and hemiplegia. An important gene associated with Hemophagocytic Lymphohistiocytosis is UNC13D (Unc-13 Homolog D), and among its related pathways/superpathways are Allograft rejection and NF-kappaB Signaling. The drugs Pegaspargase and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and liver, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : ⁷⁴ Hemophagocytic lymphohistiocytosis, also known as haemophagocytic lymphohistiocytosis (British... more...

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Related Diseases for Hemophagocytic Lymphohistiocytosis

Diseases in the Hemophagocytic Lymphohistiocytosis family:

Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytic Lymphohistiocytosis, Familial, 5	Secondary Hemophagocytic Lymphohistiocytosis
Primary Hemophagocytic Lymphohistiocytosis

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

(show top 50) (show all 600)

#	Related Disease	Score	Top Affiliating Genes
1	hemophagocytic lymphohistiocytosis, familial, 2	35.3	UNC13D STX11 PRF1
2	hemophagocytic lymphohistiocytosis, familial, 5	35.3	STXBP2 STX11
3	hemophagocytic lymphohistiocytosis, familial, 3	35.0	UNC13D UNC13B STX11 RAB27A
4	hemophagocytic lymphohistiocytosis, familial, 1	34.9	UNC13D STXBP2 STX11 SH2D1A RAB27A PRF1
5	primary hemophagocytic lymphohistiocytosis	34.7	UNC13D STX11 RAB27A PRF1
6	hemophagocytic lymphohistiocytosis, familial, 4	33.9	UNC13D UNC13B STXBP2 STX11 SNAP23 RAB27A
7	macrophage activation syndrome	33.4	UNC13D RAB27A PRF1 IL18
8	lymphoproliferative syndrome 2	33.0	XIAP STXBP2 SH2D1A CD27
9	lymphoproliferative syndrome, x-linked, 1	32.9	XIAP UNC13D STXBP2 STX11 SH2D1A RAB27A
10	lymphoproliferative syndrome 1	32.3	XIAP UNC13D STXBP2 STX11 SH2D1A PRF1
11	lymphoproliferative syndrome, x-linked, 2	32.2	XIAP UNC13D STXBP2 STX11 SH2D1A RAB27A
12	griscelli syndrome	31.7	UNC13D UNC13B STXBP2 STX11 SH2D1A RAB27A
13	griscelli syndrome, type 2	31.7	UNC13D UNC13B STXBP2 STX11 SH2D1A RAB27A
14	visceral leishmaniasis	31.5	IL18 IL10 IFNG
15	autoimmune disease	31.4	PRF1 IL2RA IL18 IL10 IFNG
16	graft-versus-host disease	31.4	IL10 IFNG GZMB
17	leishmaniasis	31.3	IL18 IL10 IFNG GZMB
18	juvenile rheumatoid arthritis	31.3	IL2RA IL18 IL10 IFNG
19	scrub typhus	31.3	IL18 IL10 IFNG
20	pancytopenia	31.3	XIAP UNC13D STXBP2 STX11 SH2D1A RAB27A
21	chickenpox	31.2	IL10 IFNG CD27
22	acute graft versus host disease	31.2	IL2RA IL18 IL10 IFNG
23	dengue hemorrhagic fever	31.1	IL18 IL10 IFNG
24	lymphadenitis	31.1	IL2RA IL18 IL10 IFNG
25	chronic graft versus host disease	31.0	IL2RA IL10 IFNG
26	lymphoproliferative syndrome	31.0	XIAP UNC13D SH2D1A PRF1 IL2RA IL10
27	chronic active epstein-barr virus infection	31.0	IL10 IFNG
28	rheumatic disease	30.9	IL2RA IL18 IL10 IFNG
29	brucellosis	30.8	IL2RA IL18 IL10 IFNG
30	lymphopenia	30.8	IL2RA IL18 IL10 IFNG
31	aspergillosis	30.8	IL18 IL10 IFNG
32	sarcoidosis 1	30.7	IL2RA IL18 IFNG CD27
33	myocarditis	30.7	PRF1 IL18 IL10 IFNG
34	lepromatous leprosy	30.7	IL18 IL10 IFNG
35	leptospirosis	30.7	IL18 IL10 IFNG
36	immune deficiency disease	30.7	SH2D1A RAB27A IL2RA IL18 IL10 IFNG
37	chlamydia	30.6	IL18 IL10 IFNG
38	pneumonia	30.5	PRF1 IL18 IL10 IFNG
39	polyradiculoneuropathy	30.5	PRF1 IL10 IFNG
40	candidiasis	30.5	SH2D1A IL10 IFNG
41	pulmonary tuberculosis	30.5	IL2RA IL18 IL10 IFNG
42	myeloma, multiple	30.5	XIAP PRF1 IL10 IFNG CD27
43	hermansky-pudlak syndrome	30.4	STX11 RAB27A LYST LAMP1 AP3B1
44	melioidosis	30.4	IL18 IL10 IFNG
45	aplastic anemia	30.4	SH2D1A PRF1 IL2RA IL18 IL10 IFNG
46	dysgammaglobulinemia	30.4	XIAP UNC13D STXBP2 STX11 SH2D1A
47	lymphoma, non-hodgkin, familial	30.4	XIAP SH2D1A PRF1 IL2RA IL10 GZMB
48	nasal cavity lymphoma	30.4	PRF1 GZMB
49	proteasome-associated autoinflammatory syndrome 1	30.4	IL18 IL10 IFNG
50	rubella	30.3	IL2RA IL10 IFNG

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

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Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis:

seizures, ataxia, hemiplegia, icterus, bulging fontanelle

GenomeRNAi Phenotypes related to Hemophagocytic Lymphohistiocytosis according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.4	GZMB IL10 IL18 IL2RA XIAP
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.4	CD27 GZMB IL10 IL18 IL2RA UNC13B

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	10.2	AP3B1 CD27 IFNG IL10 IL18 IL2RA
2	cellular	MP:0005384	10.11	AP3B1 CD27 IFNG IL10 IL18 LAMP1
3	immune system	MP:0005387	10.1	AP3B1 CD27 IFNG IL10 IL18 IL2RA
4	integument	MP:0010771	9.81	AP3B1 IFNG IL10 IL18 LAMP1 LYST
5	no phenotypic analysis	MP:0003012	9.5	AP3B1 IFNG IL10 LYST SNAP23 STX11
6	respiratory system	MP:0005388	9.17	AP3B1 IFNG IL10 IL2RA LYST RAB27A

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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

Pegaspargase

Approved, Investigational

Phase 3

130167-69-0

Hydrocortisone acetate

Approved, Vet_approved

Phase 3

50-03-3

Hydrocortisone

Approved, Vet_approved

Phase 3

50-23-7

5754

Lenalidomide

Approved

Phase 2, Phase 3

191732-72-6

216326

Cyclophosphamide

Approved, Investigational

Phase 2, Phase 3

50-18-0, 6055-19-2

2907

Busulfan

Approved, Investigational

Phase 2, Phase 3

55-98-1

2478

Hydrocortisone hemisuccinate

Phase 3

Hydrocortisone-17-butyrate

Phase 3

Hydrocortisone 17-butyrate 21-propionate

Phase 3

Angiogenesis Inhibitors

Phase 2, Phase 3

Antibodies, Monoclonal

Phase 2, Phase 3

Immunoglobulins

Phase 2, Phase 3

Antibodies

Phase 2, Phase 3

interferons

Phase 2, Phase 3

Interferon-gamma

Phase 2, Phase 3

Alkylating Agents

Phase 2, Phase 3

Immunosuppressive Agents

Phase 2, Phase 3

Immunologic Factors

Phase 2, Phase 3

Thymoglobulin

Phase 2, Phase 3

Aldesleukin

Approved

Phase 1, Phase 2

110942-02-4, 85898-30-2

Etoposide

Approved

Phase 2

33419-42-0

36462

Dexamethasone

Approved, Investigational, Vet_approved

Phase 2

50-02-2

5743

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 2

1177-87-3

Prednisone

Approved, Vet_approved

Phase 2

53-03-2

5865

Methotrexate

Approved

Phase 2

1959-05-2, 59-05-2

126941

leucovorin

Approved

Phase 2

58-05-9

6006 143

Cytarabine

Approved, Experimental, Investigational

Phase 2

147-94-4, 65-46-3

6253

Thiotepa

Approved, Investigational

Phase 2

52-24-4

5453

Mesna

Approved, Investigational

Phase 2

3375-50-6

598

Tacrolimus

Approved, Investigational

Phase 1, Phase 2

104987-11-3

445643 439492 6473866

Sirolimus

Approved, Investigational

Phase 1, Phase 2

53123-88-9

5284616 6436030 46835353

Hydroxyurea

Approved

Phase 2

127-07-1

3657

Pentostatin

Approved, Investigational

Phase 2

53910-25-1

40926 439693

Doxorubicin

Approved, Investigational

Phase 2

23214-92-8

31703

Vincristine

Approved, Investigational

Phase 2

2068-78-2, 57-22-7

5978

rituximab

Approved

Phase 2

174722-31-7

10201696

alemtuzumab

Approved, Investigational

Phase 2

216503-57-0

Fludarabine

Approved

Phase 2

21679-14-1, 75607-67-9

30751

Vidarabine

Approved, Investigational

Phase 2

24356-66-9

32326 21704

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 2

59-30-3

6037

Treosulfan

Investigational

Phase 2

299-75-2

9296

Interleukin-2

Phase 1, Phase 2

Analgesics, Non-Narcotic

Phase 1, Phase 2

Anti-Retroviral Agents

Phase 1, Phase 2

Analgesics

Phase 1, Phase 2

Anti-HIV Agents

Phase 1, Phase 2

Rho(D) Immune Globulin

Phase 2

Immunoglobulins, Intravenous

Phase 2

gamma-Globulins

Phase 2

Topoisomerase Inhibitors

Phase 2

Interventional clinical trials:

(show top 50) (show all 66)

#	Name	Status	NCT ID	Phase	Drugs
1	Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology	Unknown status	NCT02862054	Phase 2, Phase 3
2	L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis	Unknown status	NCT02631109	Phase 3	Pegaspargase;doxorubicin;etoposide;methylprednisolone
3	A Randomized Controlled Trial of L-DEP as an Initial Treatment for Epstein-Barr Virus-associated Hemophagocytic Lymphohistiocytosis	Unknown status	NCT02912702	Phase 3	Pegaspargase;doxorubicin hydrochloride liposome injection;etoposide;methylprednisolone;Etoposide;dexamethasone
4	Hemophagocytic Lymphohistiocytosis	Unknown status	NCT00334672	Phase 3	busulfan;cyclophosphamide;cyclosporine;dexamethasone;etoposide;methotrexate;mycophenolate mofetil;therapeutic hydrocortisone
5	HLH-2004 Treatment Protocol	Completed	NCT00426101	Phase 3	Dexamethasone;Etoposide;Cyclosporin
6	DEP-ruxolitinib Regimen as a Salvage Therapy for Refractory/Relapsed Hemophagocytic Lymphohistiocytosis	Recruiting	NCT03533790	Phase 3	DEP-Ru
7	A Prospective Study on the Modified DEP Regimen Induction Therapy in Lymphoma Induced Hemophagocytic Lymphohistiocytosis	Recruiting	NCT04077905	Phase 3	Pegylated liposomal doxorubicin;Etoposide;Methylprednisolone
8	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
9	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
10	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 2, Phase 3	PD1 antibody;lenalidomide
11	Open-label Extension Study With Tadekinig Alfa (r-hIL-18BP) to Monitor Safety and Tolerability in Patients With IL-18 Driven Monogenic Autoinflammatory Conditions: NLRC4 Mutation and XIAP Deficiency	Recruiting	NCT03512314	Phase 3	Tadekinig alfa
12	A Phase 2/3, Open-label, Single Arm, Multicentre Study to Assess Safety, Tolerability, Pharmacokinetics and Efficacy of Intravenous Multiple Administrations of NI-0501, an Anti-interferon Gamma (Anti-IFNγ) Monoclonal Antibody, in Paediatric Patients With Primary Haemophagocytic Lymphohistiocytosis	Active, not recruiting	NCT01818492	Phase 2, Phase 3
13	A Randomized Controlled Trial of Etoposide in the First-line Treatment of Adult Epstein-barr Virus Associated Hemophagocytic Lymphohistiocytosis	Not yet recruiting	NCT03742115	Phase 3	Etoposide;Dexamethasone;Etoposide;IVIG
14	A Phase 2/3, Open-label, Single Arm, Multicenter Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Emapalumab in Adult Patients With Hemophagocytic Lymphohistiocytosis	Not yet recruiting	NCT03985423	Phase 2, Phase 3	Emapalumab-Lzsg
15	In-vivo T-cell Depletion and Hematopoietic Stem Cell Transplantation for Life-Threatening Immune Deficiencies and Histiocytic Disorders	Terminated	NCT00176826	Phase 2, Phase 3	Myeloablative conditioning regimen
16	Safety and Efficiency Study of Low-dose IL-2 Treatment in Macrophage Activation Syndrome	Unknown status	NCT02569463	Phase 1, Phase 2	Interleukin-2
17	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
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	Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204)	Completed	NCT01998633	Phase 2
20	Cytokine Blockade With Tocilizumab in Patients With Cytokine Release Syndrome and Hemophagocytic Lymphohistiocytosis	Recruiting	NCT02007239	Phase 2	tocilizumab
21	Ruxolitinib Combined With Dexamethasone for Pediatric Refractory and Secondary Hemophagocytic Lymphohistiocytosis	Recruiting	NCT03795909	Phase 1, Phase 2	Ruxolitinib;Dexamethasone
22	First Line Treatment of Familiar Lymphohistiocytosis by Alemtuzumab (CAMPATH®)	Recruiting	NCT02472054	Phase 1, Phase 2	Alemtuzumab;Methyl Prednisolone (MP);Cyclosporin A (CSA)
23	CD-34 Selection for Ex-vivo T-Cell Depletion of Mobilized Peripheral Blood Stem Cells for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Receiving Intensive Conditioning	Recruiting	NCT00368355	Phase 2	Ara-C;Cyclophosphamide
24	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
25	A Pilot, Open-label, Single Arm, Multicenter Study to Evaluate Safety, Tolerability, Pharmacokinetics and Efficacy of Intravenous Administrations of NI-0501, an Anti-interferon Gamma (Anti-IFNγ) Monoclonal Antibody, in Patients With Systemic Juvenile Idiopathic Arthritis (sJIA) Developing Macrophage Activation Syndrome/Secondary HLH (MAS/sHLH)	Recruiting	NCT03311854	Phase 2	NI-0501
26	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
27	PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders	Recruiting	NCT03513328	Phase 1, Phase 2	Thiotepa--single daily dose;Thiotepa--escalated dose
28	CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplant for Malignant Disease	Recruiting	NCT02061800	Phase 1, Phase 2	Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
29	A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation	Recruiting	NCT01962415	Phase 2	Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
30	Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen	Recruiting	NCT00919503	Phase 2	Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
31	Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation	Recruiting	NCT03663933	Phase 2	Immunosuppression Only Conditioning (IOC);Reduced Intensity Conditioning (RIC);GVHD Prophylaxis
32	A Prospective, Single-arm, Open-label, Phase 2 Study to Evaluate Efficacy and Safety of DA-EPOCH Regimen for Non-Hodgkin's Lymphoma With Hemophagocytic Lymphohistiocytosis	Active, not recruiting	NCT01818908	Phase 2	DA-EPOCH
33	Pilot Study of Ruxolitinib in Secondary Hemophagocytic Syndrome	Active, not recruiting	NCT02400463	Phase 2	Ruxolitinib
34	Hematopoietic Cell Transplantation for Treatment of Patients With Primary Immunodeficiencies and Other Nonmalignant Inherited Disorders Using Low-Dose TBI and Fludarabine With or Without Campath®	Active, not recruiting	NCT00553098	Phase 2	Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
35	Administration of Haploidentical Donor T Cells Transduced With the Inducible Caspase-9 Suicide Gene	Active, not recruiting	NCT01494103	Phase 1	AP1903
36	Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases	Active, not recruiting	NCT01917708	Phase 1	Abatacept
37	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
38	CASPALLO: A Phase I Study Evaluating the Use of Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene After Haploidentical Stem Cell Transplantation	Active, not recruiting	NCT00710892	Phase 1
39	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
40	The Formation of a Cohort of HLHa Patients in Order to Study Their Physiopathological Characteristics	Unknown status	NCT02113917
41	Comparison of Predictive Ability of New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome	Unknown status	NCT01095146
42	Hemophagocytosis in Critically Ill Adult Patients With Cytopenias	Unknown status	NCT01913938
43	Intensive Care Unit and Secondary and Primary Immune Deficiency	Unknown status	NCT02888535
44	Transfusion-related Epstein-Barr Virus (EBV) Infection Among Allogeneic Stem Cell Transplant Pediatric Recipients: a Multicenter Prospective Cohort Study (TREASuRE Study)	Unknown status	NCT02505789
45	sCD163 & CD19 as Candidate Biomarkers in Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) - A Study of sCD163 in the Cerebrospinal Fluid	Unknown status	NCT02271724
46	sCD163 as a Potential Biomarker in Guillain- Barré Syndrome	Unknown status	NCT02582853
47	Secondary Adult's Hemophagocytic Lymphohistiocytosis and Innate Immunity	Completed	NCT01125319
48	The Prognostic and Diagnostic Value of Ferritin in Critically Ill Patients With Special Focus on Underlying Hemophagocytic Lymphohistiocytosis	Completed	NCT02854943
49	Ceftriaxone in Non-neutropenic Fever	Completed	NCT01225718
50	Role of the IL-2 Inducible Tcell Kinase in EBV-HLH and EBV+ Hodgkin's Lymphoma	Completed	NCT01490801

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis

Cell-based therapeutics:

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

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Genetic Tests for Hemophagocytic Lymphohistiocytosis

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Anatomical Context for Hemophagocytic Lymphohistiocytosis

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis:

⁴⁰

T Cells, Bone, Liver, Bone Marrow, B Cells, Monocytes, Nk Cells

Sources

Publications for Hemophagocytic Lymphohistiocytosis

Articles related to Hemophagocytic Lymphohistiocytosis:

(show top 50) (show all 2438)

#	Title	Authors	PMID	Year
1	Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. ⁵⁴ ⁶¹	Lu G...Yang S	20092789	2009
2	[The early diagnosis and clinical analysis of 57 cases of acquired hemophagocytic lymphohistiocytosis]. ⁵⁴ ⁶¹	Wang Z...Chen X	19576122	2009
3	A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). ⁵⁴ ⁶¹	Pachlopnik Schmid J...de Saint Basile G	18991284	2008
4	Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. ⁵⁴ ⁶¹	Donn R...Ramanan AV	18311812	2008
5	Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. ⁵⁴ ⁶¹	Nagafuji K...Harada M	17606450	2007
6	Hemophagocytic lymphohistiocytosis and related disorders. ⁵⁴ ⁶¹	Filipovich AH	17088644	2006
7	Prolonged course of familial hemophagocytic lymphohistiocytosis. ⁵⁴ ⁶¹	Steinberg O...Tamary H	17164654	2006
8	Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. ⁵⁴ ⁶¹	Lee SM...Filipovich AH	16860143	2006
9	Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. ⁵⁴ ⁶¹	Zur Stadt U...Hennies HC	16278825	2006
10	A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis. ⁵⁴ ⁶¹	Voskoboinik I...Trapani JA	15755897	2005
11	Herpes simplex virus 2-associated hemophagocytic lymphohistiocytosis in a pregnant patient. ⁵⁴ ⁶¹	Yamaguchi K...Murashima A	15863596	2005
12	Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. ⁵⁴ ⁶¹	Clementi R...Arico M	12229880	2002
13	Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. ⁵⁴ ⁶¹	Schuster F...Belohradsky BH	11571516	2001
14	Interleukin-18 in hemophagocytic lymphohistiocytosis. ⁵⁴ ⁶¹	Takada H...Hara T	11699209	2001
15	Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. ⁵⁴ ⁶¹	Arico M...Nichols KE	11159547	2001
16	Soluble interleukin-2 receptor: a useful prognostic factor for patients with hemophagocytic lymphohistiocytosis. ⁵⁴ ⁶¹	Imashuku S...Tsunematsu Y	8541568	1995
17	Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19. ⁶¹	Pournami F...Jain N	31976148	2020
18	Successful remission induction in refractory familial hemophagocytic lymphohistiocytosis with ruxolitinib as a bridge to hematopoietic stem cell transplantation. ⁶¹	Ramanan KM...Raj R	31762142	2020
19	[Analysis of Human Herpes Viruses-Activated Infection Spectra in Patients with Various Immunodeficiencies]. ⁶¹	Yuan LL...Liu HX	32027295	2020
20	X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic. ⁶¹	Xu T...Zhao X	31754776	2020
21	Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience. ⁶¹	Kwon WK...Kang ES	32009323	2020
22	Hemophagocytic Lymphohistiocytosis in a Patient with Rheumatoid Arthritis on Pembrolizumab for Lung Adenocarcinoma. ⁶¹	Akagi Y...Izumo T	32009093	2020
23	Genetic Deficiency of Interferon-γ Reveals Interferon-γ-Independent Manifestations of Murine Hemophagocytic Lymphohistiocytosis. ⁶¹	Burn TN...Behrens EM	31400073	2020
24	Clinical diagnosis and treatment recommendations for immune checkpoint inhibitor-related hematological adverse events. ⁶¹	Zhuang J...Zhang L	32017466	2020
25	Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome. ⁶¹	Lone KS...Al-Hussaini A	31978013	2020
26	Japanese Spotted Fever with Hemophagocytic Lymphohistiocytosis. ⁶¹	Kaneko M...Kinami S	31645532	2020
27	Ruxolitinib treatment for SR-aGVHD in patients with EBV-HLH undergoing allo-HSCT. ⁶¹	Meng G...Wang Z	31879790	2020
28	Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2. ⁶¹	Nishikawa T...Kawano Y	31820501	2020
29	Macrophage Activation Syndrome and Secondary Hemophagocytic Lymphohistiocytosis in Childhood Inflammatory Disorders: Diagnosis and Management. ⁶¹	Henderson LA...Cron RQ	31732958	2020
30	Benefit of Anakinra in Treating Pediatric Secondary Hemophagocytic Lymphohistiocytosis. ⁶¹	Eloseily EM...Cron RQ	31513353	2020
31	Hemophagocytic lymphohistiocytosis in pregnancy: a case report and review of the literature. ⁶¹	Cheng J...Di W	31215279	2020
32	To "Lump" or to "Split" in Macrophage Activation Syndrome and Hemophagocytic Lymphohistiocytosis. ⁶¹	Nikiforow S...Berliner N	31524337	2020
33	GATA2 mutation underlies hemophagocytic lymphohistiocytosis in an adult with primary cytomegalovirus infection. ⁶¹	Suzuki T...Ohmagari N	31350183	2020
34	The role of allogeneic hematopoietic stem cell transplantation and Epstein-Barr virus infection on the treatment for child primary hemophagocytic lymphohistiocytosis patients with X-linked lymphoproliferative disease: A rare case report and family survey study. ⁶¹	Cui T...Wang Z	32011062	2020
35	Macrophage activation syndrome in pediatrics. ⁶¹	Alongi A...Ravelli A	32017214	2020
36	Platelet-derived alpha-granules are associated with inflammation in patients with NK/T-cell lymphoma-associated hemophagocytic syndrome. ⁶¹	Ren Q...Lin T	31739215	2020
37	Plasma Filtration Versus Centrifugation in Pediatric Therapeutic Plasma Exchange: Should the Diagnosis Define the Method?†. ⁶¹	Yetimakman AF...Bayrakci B	31066994	2020
38	Efficacy of plasma exchange with a high dose of acyclovir for disseminated varicella infection. ⁶¹	Aoyagi J...Yamagata T	31520251	2020
39	Severe dengue and liver involvement: an overview and review of the literature. ⁶¹	Chia PY...Leo YS	31971031	2020
40	Adverse Events of Novel Therapies for Hematologic Malignancies: What Emergency Physicians Should Know. ⁶¹	Shah M...Yeung SJ	31561995	2020
41	Dose-adjusted EPOCH regimen as first-line treatment for non-Hodgkin lymphoma-associated hemophagocytic lymphohistiocytosis: a single-arm, open-label, phase II trial. ⁶¹	Liang JH...Xu W	31073069	2020
42	Hemophagocytic lymphohistiocytosis complicating invasive pneumococcal disease: a pediatric case report. ⁶¹	Tsuge M...Tsukahara H	31931763	2020
43	Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in a small child: A case report. ⁶¹	Marginean MO...Chincesan MI	32011461	2020
44	Toxoplasma-induced hemophagocytic lymphohistiocytosis after haploidentical allogeneic stem cell transplantation. ⁶¹	Sanchez-Petitto G...Hardy NM	31895492	2020
45	Adult haemophagocytic lymphohistiocytosis: a Review. ⁶¹	Yildiz H...Yombi JC	31943120	2020
46	Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease. ⁶¹	Torralba-Raga L...Bryceson Y	31994322	2020
47	Adult secondary hemophagocytic lymphohistiocytosis with cerebromeningeal symptoms early after allogeneic hematopoietic stem cell transplantation. ⁶¹	Mensah-Glanowska P...Piatkowska-Jakubas B	31933488	2020
48	Cerebral Spinal Fluid Hemophagocytosis in Lupus-Induced Hemophagocytic Lymphohistiocytosis: A Clinical Image. ⁶¹	Ali AH...Yuvienco C	31972734	2020
49	Secondary Hemophagocytic Lymphohistiocytosis secondary to Dengue and leptospirosis : A rare case report. ⁶¹	Karantha BR...Maheshwari U	31979873	2020
50	Serum soluble VSIG4 as a surrogate marker for the diagnosis of lymphoma-associated hemophagocytic lymphohistiocytosis. ⁶¹	Yuan S...Song S	31960419	2020

Sources

Genes for Hemophagocytic Lymphohistiocytosis

Genes related to Hemophagocytic Lymphohistiocytosis (0 elite genes):

(show all 30)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	UNC13D	Unc-13 Homolog D	Protein Coding	61.28	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	16278825
2	PRF1	Perforin 1	Protein Coding	60.39	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	16860143 18311812 16278825 (more) 12229880 20092789 17606450 17164654 15755897
3	STX11	Syntaxin 11	Protein Coding	50.24	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
4	STXBP2	Syntaxin Binding Protein 2	Protein Coding	49.87	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
5	SH2D1A	SH2 Domain Containing 1A	Protein Coding	26.19	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	11159547
6	RAB27A	RAB27A, Member RAS Oncogene Family	Protein Coding	25.75	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	18311812 11571516 16278825 (more) 18991284 17088644
7	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	19.55	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	19576122 15863596 20511152 (more) 8541568
8	IL18	Interleukin 18	Protein Coding	18.83	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	11699209
9	HPLH1	Hemophagocytic Lymphohistiocytosis 1	Genetic Locus	17.32	GeneCards inferred via : Publications Gene name (show sections)
10	FHL2	Four And A Half LIM Domains 2	Protein Coding	16.22	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	15.12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	LYST	Lysosomal Trafficking Regulator	Protein Coding	15	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	AP3B1	Adaptor Related Protein Complex 3 Subunit Beta 1	Protein Coding	14.56	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	UNC13B	Unc-13 Homolog B	Protein Coding	14.17	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	LAMP1	Lysosomal Associated Membrane Protein 1	Protein Coding	13.92	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	CD27	CD27 Molecule	Protein Coding	13.77	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
17	IFNG	Interferon Gamma	Protein Coding	13.73	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	GZMB	Granzyme B	Protein Coding	13.61	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	SNAP23	Synaptosome Associated Protein 23	Protein Coding	13.58	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
20	IL10	Interleukin 10	Protein Coding	13.25	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	ITK	IL2 Inducible T Cell Kinase	Protein Coding	13.19	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	TNF	Tumor Necrosis Factor	Protein Coding	13.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	GNLY	Granulysin	Protein Coding	12.98	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
24	CD5	CD5 Molecule	Protein Coding	12.85	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
25	GPT	Glutamic--Pyruvic Transaminase	Protein Coding	12.83	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
26	GATA2	GATA Binding Protein 2	Protein Coding	12.59	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
27	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	12.4	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
28	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	12.07	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
29	SRGN	Serglycin	Protein Coding	12.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
30	CR2	Complement C3d Receptor 2	Protein Coding	12.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Hemophagocytic Lymphohistiocytosis

Sources

Expression for Hemophagocytic Lymphohistiocytosis

Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis.

Sources

Pathways for Hemophagocytic Lymphohistiocytosis

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

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Allograft rejection ¹ ³⁶ Show member pathways Antigen processing and presentation ³⁶ Asthma ³⁶ Autoimmune thyroid disease ³⁶ CTL Mediated Apoptosis ⁶³ Graft-versus-host disease ³⁶ Intestinal immune network for IgA production ³⁶ THC Differentiation Pathway ⁶³ Type I diabetes mellitus ³⁶ Viral myocarditis ³⁶	12.66	PRF1 IL2RA IL10 IFNG GZMB
2	NF-kappaB Signaling ⁴	12.35	SH2D1A IL2RA IL10 IFNG GZMB
3	Immune response Role of DAP12 receptors in NK cells ²² Show member pathways Immune response CD16 signaling in NK cells ²² Natural killer cell mediated cytotoxicity ³⁶	12.33	SH2D1A PRF1 IFNG GZMB
4	Tuberculosis ³⁶	12.05	LAMP1 IL18 IL10 IFNG
5	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.73	LAMP1 IL2RA IL10 IFNG
6	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.68	IL2RA IL18 IFNG GZMB
7	Microglia Activation During Neuroinflammation: Microglia Polarization ⁶⁴	11.54	IL18 IL10 IFNG
8	Malaria ³⁶	11.35	IL18 IL10 IFNG
9	Th2 Differentiation Pathway ⁶⁴	11.3	IL2RA IL10 IFNG
10	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.24	PRF1 IL2RA IFNG GZMB
11	African trypanosomiasis ³⁶	11.15	IL18 IL10 IFNG
12	Innate Lymphoid Cell Differentiation Pathways ⁶⁴	10.92	IL2RA IL18 IL10 IFNG GZMB
13	Immune response_IL-12 signaling pathway ²² Show member pathways Interleukin-12 signaling ⁶⁵	10.9	PRF1 IL2RA IFNG
14	Deregulation of Rab and Rab Effector Genes in Bladder Cancer ¹	10.75	UNC13D RAB27A
15	IL12 signaling mediated by STAT4 ¹	10.7	PRF1 IL2RA IL18 IFNG
16	wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) ²²	10.62	UNC13D RAB27A

Sources

GO Terms for Hemophagocytic Lymphohistiocytosis

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

#	Name	GO ID	Score	Top Affiliating Genes
1	specific granule	GO:0042581	9.26	STXBP2 SNAP23
2	azurophil granule	GO:0042582	9.16	STXBP2 SNAP23
3	Weibel-Palade body	GO:0033093	8.96	UNC13D RAB27A
4	cytolytic granule	GO:0044194	8.8	STXBP2 PRF1 LAMP1

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	neutrophil degranulation	GO:0043312	9.91	UNC13D STXBP2 SNAP23 RAB27A LAMP1
2	apoptotic process	GO:0006915	9.91	XIAP PRF1 IL2RA IFNG GZMB CD27
3	vesicle-mediated transport	GO:0016192	9.84	STXBP2 STX11 RAB27A AP3B1
4	defense response to virus	GO:0051607	9.76	UNC13D PRF1 LYST IFNG
5	regulation of regulatory T cell differentiation	GO:0045589	9.56	IL2RA IFNG
6	synaptic vesicle priming	GO:0016082	9.55	UNC13B SNAP23
7	synaptic vesicle fusion to presynaptic active zone membrane	GO:0031629	9.52	STX11 SNAP23
8	positive regulation of MHC class II biosynthetic process	GO:0045348	9.49	IL10 IFNG
9	regulation of mast cell degranulation	GO:0043304	9.48	UNC13D STXBP2
10	positive regulation of killing of cells of other organism	GO:0051712	9.4	PRF1 IFNG
11	natural killer cell degranulation	GO:0043320	9.37	UNC13D RAB27A
12	granzyme-mediated apoptotic signaling pathway	GO:0008626	9.32	LAMP1 GZMB
13	positive regulation of regulated secretory pathway	GO:1903307	9.26	UNC13D RAB27A
14	type 2 immune response	GO:0042092	9.16	IL18 IL10
15	natural killer cell mediated cytotoxicity	GO:0042267	9.13	LYST IL18 GZMB
16	exocytosis	GO:0006887	9.1	UNC13D UNC13B STXBP2 STX11 SNAP23 RAB27A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.58	XIAP UNC13D UNC13B STXBP2 STX11 SNAP23

Sources

Sources for Hemophagocytic Lymphohistiocytosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia