MCID: MCR225
MIFTS: 44

Macrophage Activation Syndrome

Categories: Rare diseases, Bone diseases, Blood diseases

Aliases & Classifications for Macrophage Activation Syndrome

MalaCards integrated aliases for Macrophage Activation Syndrome:

Name: Macrophage Activation Syndrome 53 59 73

Classifications:



External Ids:

Orphanet 59 ORPHA158061
MESH via Orphanet 45 D055501
UMLS via Orphanet 74 C1096155
UMLS 73 C1096155

Summaries for Macrophage Activation Syndrome

MalaCards based summary : Macrophage Activation Syndrome is related to griscelli syndrome, type 2 and griscelli syndrome. An important gene associated with Macrophage Activation Syndrome is RAB27A (RAB27A, Member RAS Oncogene Family), and among its related pathways/superpathways are Innate Immune System and Legionellosis. The drugs Methotrexate and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, and related phenotypes are Mildly decreased CFP-tsO45G cell surface transport and hematopoietic system

Wikipedia : 76 Macrophage-activation syndrome (MAS) is a severe, potentially life-threatening, complication of several... more...

Related Diseases for Macrophage Activation Syndrome

Diseases related to Macrophage Activation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 2 31.8 RAB27A UNC13D
2 griscelli syndrome 31.7 RAB27A UNC13D
3 systemic onset juvenile idiopathic arthritis 30.9 PRF1 TNF
4 rheumatoid arthritis 29.1 ANGPT1 HMGB1 IRF5 TNF
5 rheumatic disease 29.0 CD163 HMGB1 TNF
6 hemophagocytic lymphohistiocytosis 28.9 PRF1 RAB27A TNF UNC13D
7 autoinflammation with infantile enterocolitis 11.3
8 listeriosis 10.4 PRF1 TNF
9 arthritis 10.4
10 pyogenic granuloma 10.4 ANGPT1 ANGPT2
11 endophthalmitis 10.3 HMGB1 PRF1
12 twin-to-twin transfusion syndrome 10.3 ANGPT1 ANGPT2
13 lipodermatosclerosis 10.3 ANGPT1 ANGPT2
14 placenta accreta 10.3 ANGPT1 ANGPT2
15 epstein-barr virus-associated gastric carcinoma 10.3 IRF5 TNF
16 staphylococcal toxic shock syndrome 10.2 HMGB1 TNF
17 bacterial vaginosis 10.2 PRF1 TNF
18 anca-associated vasculitis 10.2 HMGB1 TNF
19 poems syndrome 10.2 ANGPT2 TNF
20 adult-onset still's disease 10.1
21 lupus erythematosus 10.1
22 plasmodium vivax malaria 10.1 ANGPT2 TNF
23 systemic lupus erythematosus 10.1
24 spondylarthropathy 10.1 CD163 TNF
25 rheumatoid arthritis, systemic juvenile 10.1
26 rasmussen encephalitis 10.1 HMGB1 TNF
27 epileptic encephalopathy, childhood-onset 10.1 ANGPT1 ANGPT2
28 hemophagocytic lymphohistiocytosis, familial, 4 10.1 RAB27A UNC13D
29 legionellosis 10.0 NLRC4 TNF
30 suppurative cholangitis 10.0 HMGB1 TNF
31 idiopathic neutropenia 10.0 HMGB1 TNF
32 juvenile rheumatoid arthritis 10.0
33 hemorrhagic fever with renal syndrome 9.9 CD163 TNF
34 kawasaki disease 9.9
35 enthesopathy 9.9
36 dermatomyositis 9.8
37 autoimmune disease 1 9.7
38 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
39 lymphoma 9.7
40 panniculitis 9.7
41 autoimmune disease 9.7
42 influenza 9.7
43 chronic granulomatous disease 9.7
44 lymphatic system disease 9.7 RAB27A UNC13D
45 limb ischemia 9.7 ANGPT2 TNF
46 pericardial effusion 9.7
47 retinitis 9.7
48 hepatitis 9.7
49 hepatitis e 9.7
50 scrub typhus 9.7

Graphical network of the top 20 diseases related to Macrophage Activation Syndrome:



Diseases related to Macrophage Activation Syndrome

Symptoms & Phenotypes for Macrophage Activation Syndrome

GenomeRNAi Phenotypes related to Macrophage Activation Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Mildly decreased CFP-tsO45G cell surface transport GR00360-A-1 9.17 ANGPT2 CD163 HMGB1 NLRC4 PRF1 UNC13D

MGI Mouse Phenotypes related to Macrophage Activation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 CD163 IRF5 NLRC4 PRF1 RAB27A TNF
2 homeostasis/metabolism MP:0005376 9.56 ANGPT1 ANGPT2 CD163 IRF5 PRF1 RAB27A
3 immune system MP:0005387 9.28 ANGPT2 CD163 IRF5 NLRC4 PRF1 RAB27A

Drugs & Therapeutics for Macrophage Activation Syndrome

Drugs for Macrophage Activation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
2
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
4 Analgesics Phase 3,Phase 1,Phase 2
5 Analgesics, Non-Narcotic Phase 3,Phase 1,Phase 2
6 Peripheral Nervous System Agents Phase 3,Phase 1,Phase 2
7 Folic Acid Antagonists Phase 3
8 Dermatologic Agents Phase 3
9 Nucleic Acid Synthesis Inhibitors Phase 3
10 Vitamin B Complex Phase 3
11 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
12 Anti-Inflammatory Agents Phase 3,Phase 1,Phase 2
13 Anti-Inflammatory Agents, Non-Steroidal Phase 3
14 Antirheumatic Agents Phase 3,Phase 2,Phase 1
15 Antimetabolites Phase 3,Phase 1,Phase 2
16 Antimetabolites, Antineoplastic Phase 3,Phase 1,Phase 2
17 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
18 Interleukin 1 Receptor Antagonist Protein Phase 3,Phase 2,Phase 1
19 Krestin Phase 3
20 Folate Nutraceutical Phase 3
21 Vitamin B9 Nutraceutical Phase 3
22
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
23
alemtuzumab Approved, Investigational Phase 1, Phase 2,Early Phase 1 216503-57-0
24
Fludarabine Approved Phase 1, Phase 2,Phase 2,Early Phase 1 21679-14-1, 75607-67-9 30751
25
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
26
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
27
Busulfan Approved, Investigational Phase 1, Phase 2,Early Phase 1 55-98-1 2478
28
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
29
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
30
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
31
Melphalan Approved Phase 1, Phase 2,Early Phase 1 148-82-3 4053 460612
32
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
33
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
34 Interleukin-2 Phase 1, Phase 2
35 Anti-Infective Agents Phase 1, Phase 2,Phase 2
36 Anti-HIV Agents Phase 1, Phase 2
37 Anti-Retroviral Agents Phase 1, Phase 2
38 Antiviral Agents Phase 1, Phase 2,Phase 2
39 Prednisolone acetate Phase 1, Phase 2
40 interferons Phase 2
41 Alkylating Agents Phase 1, Phase 2
42 glucocorticoids Phase 1, Phase 2
43 Methylprednisolone acetate Phase 1, Phase 2
44 Methylprednisolone Hemisuccinate Phase 1, Phase 2
45 Gastrointestinal Agents Phase 1, Phase 2
46 Neuroprotective Agents Phase 1, Phase 2
47 Hormone Antagonists Phase 1, Phase 2
48 Hormones Phase 1, Phase 2
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
50 Antibodies Phase 2

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Long-Term Extension Study of RoActemra/Actemra (Tocilizumab) in Patients With Juvenile Idiopathic Arthritis Who Completed WA19977 Core Study Completed NCT01667471 Phase 3 tocilizumab [RoActemra/Actemra]
2 A Study of RoActemra/Actemra (Tocilizumab) in Patients With Active Systemic Juvenile Idiopathic Arthritis (JIA) Completed NCT00642460 Phase 3 tocilizumab [RoActemra/Actemra];Placebo;Non-steroidal anti-inflammatory drugs (NSAIDs);methotrexate;corticosteroids
3 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency Recruiting NCT03113760 Phase 3 Tadekinig alfa;Placebo
4 A Study to Evaluate Efficacy and Safety of Anakinra in the Treatment of Still's Disease (SJIA and AOSD) Recruiting NCT03265132 Phase 3 Placebo
5 Low-dose IL-2 ( Interleukin-2) Treatment in Macrophage Activation Syndrome(MAS) Unknown status NCT02569463 Phase 1, Phase 2 Interleukin-2
6 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
7 A Trial of Validation and Restoration of Immune Dysfunction in Severe Infections and Sepsis Recruiting NCT03332225 Phase 2 Anakinra;Recombinant human interferon-gamma;Placebo
8 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
9 Treatment of Macrophage Activation Syndrome (MAS) With Anakinra Recruiting NCT02780583 Phase 1 kineret;placebo
10 CAR19 Donor Lymphocytes for Relapsed CD19+ Malignancies Following Allogeneic Transplantation Recruiting NCT02893189 Phase 1
11 New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
12 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
13 Pharmacovigilance in Juvenile Idiopathic Arthritis Patients Treated With Biologic Agents and/or Methotrexate Recruiting NCT01399281

Search NIH Clinical Center for Macrophage Activation Syndrome

Genetic Tests for Macrophage Activation Syndrome

Anatomical Context for Macrophage Activation Syndrome

MalaCards organs/tissues related to Macrophage Activation Syndrome:

41
Liver, Bone, Bone Marrow, T Cells, Endothelial, B Cells, Testes

Publications for Macrophage Activation Syndrome

Articles related to Macrophage Activation Syndrome:

(show top 50) (show all 206)
# Title Authors Year
1
Adult-Onset Still Disease and Macrophage Activation Syndrome Following Chikungunya and Hepatitis E Coinfection. ( 29485548 )
2018
2
Unopposed IL-18 signaling leads to severe TLR9-induced macrophage activation syndrome in mice. ( 29295842 )
2018
3
H-ferritin and proinflammatory cytokines are increased in the bone marrow of patients affected by macrophage activation syndrome. ( 28960260 )
2018
4
Autoinflammatory diseases: Free IL-18 causes macrophage activation syndrome. ( 29386593 )
2018
5
Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome. ( 29326099 )
2018
6
Arthritis and use of hydroxychloroquine associated with a decreased risk of macrophage activation syndrome among adult patients hospitalized with systemic lupus erythematosus. ( 29451069 )
2018
7
Novel UNC13D intronic variant disrupting a NFI_B enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis. ( 29409136 )
2018
8
Hypofibrinogenemia Is Associated With Poor Outcome and Secondary Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in Pediatric Severe Sepsis. ( 29470247 )
2018
9
Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature. ( 29875956 )
2018
10
Macrophage activation syndrome in adults: recent advances in pathophysiology, diagnosis and treatment. ( 29481673 )
2018
11
Macrophage Activation Syndrome in Patients Affected by Adult-onset Still Disease: Analysis of Survival Rates and Predictive Factors in the Gruppo Italiano di Ricerca in Reumatologia Clinica e Sperimentale Cohort. ( 29657144 )
2018
12
Systemic lupus erythematosus presenting to haematology with pancytopenia and features of macrophage activation syndrome. ( 29467122 )
2018
13
Macrophage Activation Syndrome (MAS) in a Recently Released Prisoner with Systemic Lupus Erythematosus (SLE). ( 29930239 )
2018
14
Features, Treatment and Outcomes of Macrophage Activation Syndrome in Childhood-onset Systemic Lupus Erythematosus. ( 29342508 )
2018
15
Systemic juvenile idiopathic arthritis and macrophage activation syndrome: update on pathogenesis and treatment. ( 29870499 )
2018
16
Macrophage activation syndrome in adult systemic lupus erythematosus: report of seven adult cases from a single Italian rheumatology center. ( 29976044 )
2018
17
Anakinra treatment in macrophage activation syndrome: a single center experience and systemic review of literature. ( 29663156 )
2018
18
Macrophage Activation Syndrome Associated With Adult Onset Still's Disease. ( 29938438 )
2018
19
The clinical utility of splenic fluorodeoxyglucose uptake for diagnosis and prognosis in patients with macrophage activation syndrome. ( 28834911 )
2017
20
Refractory adult-onset Still disease complicated by macrophage activation syndrome and acute myocarditis: A case report treated with high doses (8a88mg/kg/d) of anakinra. ( 28614216 )
2017
21
Novel use of rituximab in macrophage activation syndrome secondary to systemic lupus erythematosus. ( 28827301 )
2017
22
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
23
Macrophage Activation Syndrome in Paediatric Rheumatic Diseases. ( 28588173 )
2017
24
Biologic therapy modifies clinical and laboratory features of macrophage activation syndrome associated with systemic juvenile idiopathic arthritis. ( 28499329 )
2017
25
Characteristic elevation of soluble TNF receptor IIA :A I ratio in macrophage activation syndrome with systemic juvenile idiopathic arthritis. ( 28815559 )
2017
26
Macrophage activation syndrome as a complication of juvenile rheumatoid arthritis. ( 29077164 )
2017
27
Macrophage activation syndrome associated with systemic lupus erythematosus treated successfully with the combination of steroid pulse, immunoglobulin and tacrolimus. ( 29099692 )
2017
28
Advances in immunopathogenesis of macrophage activation syndrome during rheumatic inflammatory diseases: toward new therapeutic targets? ( 28837367 )
2017
29
Role of plasma exchange, leukocytapheresis, and plasma diafiltration in management of refractory macrophage activation syndrome. ( 28730667 )
2017
30
Macrophage Activation Syndrome. ( 28598057 )
2017
31
Influenza B Virus Triggering Macrophage Activation Syndrome in an Infant. ( 29279647 )
2017
32
Macrophage Activation Syndrome: A Report of Two Cases and a Literature Review. ( 29209549 )
2017
33
Application of the 2016 EULAR/ACR/PRINTO Classification Criteria for Macrophage Activation Syndrome in Patients with Adult-onset Still Disease. ( 28412707 )
2017
34
Clinical spectrum and therapeutic management of systemic lupus erythematosus-associated macrophage activation syndrome: A study of 103 episodes in 89 adult patients. ( 28483541 )
2017
35
Kawasaki Disease Complicated With Macrophage Activation Syndrome: A Systematic Review. ( 28562511 )
2017
36
Macrophage activation syndrome induced by prolonged treatment with liposomal amphotericin B. ( 29241868 )
2017
37
Idiopathic Pulmonary Hemosiderosis in a Child with Recurrent Macrophage Activation Syndrome Secondary to Systemic Juvenile Idiopathic Arthritis. ( 28251009 )
2017
38
Clinically amyopathic dermatomyositis associated with cerebral venous sinus thrombosis and macrophage activation syndrome. ( 29133727 )
2017
39
Macrophage activation syndrome and post-transplant microangiopathy following haploidentical bone marrow transplantation for sickle cell anemia. ( 29197110 )
2017
40
Lupus erythematosus panniculitis resistant to standard treatment, complicated with macrophage activation syndrome. ( 28670262 )
2017
41
Macrophage activation syndrome at the onset of glucocorticoid-resistant systemic lupus erythematosus: a case report. ( 28918421 )
2017
42
A Personalized Diagnostic and Treatment Approach for Macrophage Activation Syndrome and Secondary Hemophagocytic Lymphohistiocytosis in Adults. ( 28871523 )
2017
43
Macrophage activation syndrome in Still's disease: analysis of clinical characteristics and survival in paediatric and adult patients. ( 28914368 )
2017
44
Neutralization of IFN-I^ reverts clinical and laboratory features in a mouse model of macrophage activation syndrome. ( 28807602 )
2017
45
Validation of classification criteria of macrophage activation syndrome in Japanese patients with systemic juvenile idiopathic arthritis. ( 29195002 )
2017
46
Primary Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome: The Importance of Timely Clinical Differentiation. ( 28838727 )
2017
47
Disruption of vascular endothelial homeostasis in systemic juvenile idiopathic arthritis-associated macrophage activation syndrome: The dynamic roles of angiopoietin-1 and -2. ( 26908294 )
2016
48
A Case of Macrophage Activation Syndrome with Acute Respiratory Distress Syndrome. ( 27790499 )
2016
49
High-Volume Hemofiltration in Critically Ill Patients With Secondary Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome: A Prospective Study in the PICU. ( 27487914 )
2016
50
Macrophage activation syndrome in children with systemic juvenile idiopathic arthritis and systemic lupus erythematosus. ( 27510530 )
2016

Variations for Macrophage Activation Syndrome

Expression for Macrophage Activation Syndrome

Search GEO for disease gene expression data for Macrophage Activation Syndrome.

Pathways for Macrophage Activation Syndrome

GO Terms for Macrophage Activation Syndrome

Cellular components related to Macrophage Activation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.56 HMGB1 PRF1 RAB27A UNC13D
2 extracellular region GO:0005576 9.23 ANGPT1 ANGPT2 CD163 HMGB1 PRF1 RAB27A
3 exocytic vesicle GO:0070382 9.16 RAB27A UNC13D
4 Weibel-Palade body GO:0033093 8.96 RAB27A UNC13D

Biological processes related to Macrophage Activation Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.74 ANGPT1 HMGB1 TNF
2 inflammatory response GO:0006954 9.73 CD163 HMGB1 NLRC4 TNF
3 leukocyte migration GO:0050900 9.71 ANGPT1 ANGPT2 TNF
4 defense response to virus GO:0051607 9.69 IRF5 PRF1 UNC13D
5 positive regulation of apoptotic process GO:0043065 9.67 HMGB1 IRF5 NLRC4 TNF
6 positive regulation of interleukin-6 production GO:0032755 9.62 HMGB1 TNF
7 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.61 HMGB1 TNF
8 positive regulation of blood vessel endothelial cell migration GO:0043536 9.61 ANGPT1 HMGB1
9 positive regulation of cell adhesion GO:0045785 9.6 ANGPT1 TNF
10 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.59 HMGB1 TNF
11 negative regulation of blood vessel endothelial cell migration GO:0043537 9.58 ANGPT2 HMGB1
12 positive chemotaxis GO:0050918 9.58 ANGPT1 HMGB1
13 positive regulation of phagocytosis GO:0050766 9.56 RAB27A TNF
14 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.55 ANGPT1 TNF
15 positive regulation of interferon-beta production GO:0032728 9.52 HMGB1 IRF5
16 positive regulation of interleukin-12 production GO:0032735 9.49 HMGB1 IRF5
17 positive regulation of exocytosis GO:0045921 9.48 RAB27A UNC13D
18 activation of innate immune response GO:0002218 9.46 HMGB1 NLRC4
19 positive regulation of interferon-alpha production GO:0032727 9.4 HMGB1 IRF5
20 negative regulation of cytokine secretion involved in immune response GO:0002740 9.32 ANGPT1 TNF
21 natural killer cell degranulation GO:0043320 9.26 RAB27A UNC13D
22 positive regulation of regulated secretory pathway GO:1903307 9.16 RAB27A UNC13D
23 glomerulus vasculature development GO:0072012 8.96 ANGPT1 ANGPT2
24 Tie signaling pathway GO:0048014 8.62 ANGPT1 ANGPT2

Molecular functions related to Macrophage Activation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor tyrosine kinase binding GO:0030971 8.62 ANGPT1 ANGPT2

Sources for Macrophage Activation Syndrome

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....