MCID: MCR225
MIFTS: 40

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 50 56 69

Classifications:



External Ids:

Orphanet 56 ORPHA158061
MESH via Orphanet 43 D055501
UMLS via Orphanet 70 C1096155

Summaries for Macrophage Activation Syndrome

MalaCards based summary : Macrophage Activation Syndrome is related to rheumatoid arthritis and autoinflammation with infantile enterocolitis. An important gene associated with Macrophage Activation Syndrome is RAB27A (RAB27A, Member RAS Oncogene Family), and among its related pathways/superpathways are Legionellosis and amb2 Integrin signaling. The drugs Methotrexate and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 72 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 99)
id Related Disease Score Top Affiliating Genes
1 rheumatoid arthritis 29.2 ANGPT1 HMGB1 IRF5 TNF
2 autoinflammation with infantile enterocolitis 11.2
3 griscelli syndrome, type 2 10.8
4 griscelli syndrome 10.8
5 tabatznik syndrome 10.5 PRF1 TNF
6 phlyctenulosis 10.4 PRF1 TNF
7 pyruvate kinase deficiency, muscle type 10.4 ANGPT1 ANGPT2
8 perineurioma 10.3 HMGB1 PRF1
9 sydenham chorea 10.3 ANGPT1 ANGPT2
10 lipoic acid synthetase deficiency 10.3 ANGPT1 ANGPT2
11 arthritis 10.3
12 testicular leydig cell tumor 10.3 ANGPT1 ANGPT2
13 sternal cleft 10.3 HMGB1 TNF
14 cutaneous leishmaniasis 10.3 ANGPT2 TNF
15 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 10.3 IRF5 TNF
16 palmoplantar keratosis 10.2 PRF1 TNF
17 bipolar i disorder 10.2 ANGPT2 TNF
18 nasopharyngitis 10.2 NLRC4 TNF
19 conduct disorder 10.1 ANGPT2 TNF
20 spondylocostal dysostosis 4 10.1 CD163 TNF
21 pericholangitis 10.1 HMGB1 TNF
22 diabetes mellitus, insulin-dependent, 3 10.1 ANGPT1 ANGPT2
23 adult-onset still's disease 10.1
24 hemophagocytic lymphohistiocytosis 10.1
25 acquired thrombocytopenia 10.1 CD163 TNF
26 craniosynostosis 3 10.0 RAB27A UNC13D
27 systemic onset juvenile idiopathic arthritis 10.0
28 plummer's disease 10.0 CD163 TNF
29 salmonellosis 10.0 RAB27A UNC13D
30 lupus erythematosus 10.0
31 systemic lupus erythematosus 9.9
32 iida kannari syndrome 9.9 HMGB1 TNF
33 renal fibrosis 9.9 ANGPT2 TNF
34 kawasaki disease 9.9
35 rheumatic disease 9.8
36 alcohol abuse 9.8 ANGPT2 TNF
37 anencephaly and spina bifida x-linked 9.7 ANGPT2 HMGB1 TNF
38 pediatric supratentorial ependymoma 9.7 RAB27A UNC13D
39 chronic granulomatous disease 9.7
40 lymphoma 9.7
41 dermatomyositis 9.7
42 panniculitis 9.7
43 respiratory system disease 9.6 CD163 HMGB1 TNF
44 acute liver failure 9.6
45 colitis 9.6
46 pericardial effusion 9.6
47 scrub typhus 9.6
48 leptospirosis 9.6
49 retinitis 9.6
50 tuberculosis 9.6

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



Diseases related to Macrophage Activation Syndrome

Symptoms & Phenotypes for Macrophage Activation Syndrome

MGI Mouse Phenotypes related to Macrophage Activation Syndrome:

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

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 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
2 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency Recruiting NCT03113760 Phase 3 Tadekinig alfa;Placebo
3 A Study to Evaluate Efficacy and Safety of Anakinra in the Treatment of Still's Disease (SJIA and AOSD) Recruiting NCT03265132 Phase 3 Placebo
4 Low-dose IL-2 ( Interleukin-2) Treatment in Macrophage Activation Syndrome(MAS) Recruiting NCT02569463 Phase 1, Phase 2 Interleukin-2
5 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
6 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
7 Treatment of Macrophage Activation Syndrome (MAS) With Anakinra Recruiting NCT02780583 Phase 1 kineret;placebo
8 New Candidate Criteria for Diagnosis of Macrophage Activation Syndrome Unknown status NCT01095146
9 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
10 A Role for RAGE/TXNIP/Inflammasome Axis in Alveolar Macrophage Activation During ARDS (RIAMA): a Proof-of-concept Clinical Study Recruiting NCT02545621
11 Effects of Standard Treatment of Acute Coronary Syndromes on Macrophage Activity as Measured by Serum Neopterin Terminated NCT00952055

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:

39
Liver, Bone, Bone Marrow, T Cells, B Cells, Endothelial, Testes

Publications for Macrophage Activation Syndrome

Articles related to Macrophage Activation Syndrome:

(show top 50) (show all 174)
id Title Authors Year
1
Advances in immunopathogenesis of macrophage activation syndrome during rheumatic inflammatory diseases: toward new therapeutic targets? ( 28837367 )
2017
2
Kawasaki Disease Complicated With Macrophage Activation Syndrome: A Systematic Review. ( 28562511 )
2017
3
Application of the 2016 EULAR/ACR/PRINTO Classification Criteria for Macrophage Activation Syndrome in Patients with Adult-onset Still Disease. ( 28412707 )
2017
4
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
5
Biologic therapy modifies clinical and laboratory features of macrophage activation syndrome associated with systemic juvenile idiopathic arthritis. ( 28499329 )
2017
6
Macrophage activation syndrome at the onset of glucocorticoid-resistant systemic lupus erythematosus: a case report. ( 28918421 )
2017
7
Macrophage Activation Syndrome. ( 28598057 )
2017
8
Clinical spectrum and therapeutic management of systemic lupus erythematosus-associated macrophage activation syndrome: A study of 103 episodes in 89 adult patients. ( 28483541 )
2017
9
The clinical utility of splenic fluorodeoxyglucose uptake for diagnosis and prognosis in patients with macrophage activation syndrome. ( 28834911 )
2017
10
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
11
Characteristic elevation of soluble TNF receptor IIA :A I ratio in macrophage activation syndrome with systemic juvenile idiopathic arthritis. ( 28815559 )
2017
12
Role of plasma exchange, leukocytapheresis, and plasma diafiltration in management of refractory macrophage activation syndrome. ( 28730667 )
2017
13
Lupus erythematosus panniculitis resistant to standard treatment, complicated with macrophage activation syndrome. ( 28670262 )
2017
14
A Personalized Diagnostic and Treatment Approach for Macrophage Activation Syndrome and Secondary Hemophagocytic Lymphohistiocytosis in Adults. ( 28871523 )
2017
15
Novel use of rituximab in macrophage activation syndrome secondary to systemic lupus erythematosus. ( 28827301 )
2017
16
Primary Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome: The Importance of Timely Clinical Differentiation. ( 28838727 )
2017
17
Macrophage activation syndrome in Still's disease: analysis of clinical characteristics and survival in paediatric and adult patients. ( 28914368 )
2017
18
Neutralization of IFN-I^ reverts clinical and laboratory features in a mouse model of macrophage activation syndrome. ( 28807602 )
2017
19
Idiopathic Pulmonary Hemosiderosis in a Child with Recurrent Macrophage Activation Syndrome Secondary to Systemic Juvenile Idiopathic Arthritis. ( 28251009 )
2017
20
Macrophage Activation Syndrome in Paediatric Rheumatic Diseases. ( 28588173 )
2017
21
Development of spondyloarthropathy following episodes of macrophage activation syndrome in children with heterozygous mutations in haemophagocytic lymphohistiocytosis-associated genes. ( 27383696 )
2016
22
Autoimmune/inflammatory syndrome leading to macrophage activation syndrome: An example of autoinflammatory spectrum disorder? ( 28681590 )
2016
23
Macrophage activation syndrome associated with tocilizumab treatment in adult-onset Still's disease. ( 27778518 )
2016
24
Macrophage activation syndrome in children with systemic juvenile idiopathic arthritis and systemic lupus erythematosus. ( 27510530 )
2016
25
So-called Acute Acalculous Cholecystitis in Macrophage Activation Syndrome. ( 27746447 )
2016
26
Intravascular large B-cell lymphoma associated with silicone breast implant, HLA-DRB1*11:01, and HLA-DQB1*03:01 manifesting as macrophage activation syndrome and with severe neurological symptoms: a case report. ( 27634631 )
2016
27
Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza. ( 26597256 )
2016
28
Interleukin-1 Receptor Blockade Is Associated With Reduced Mortality in Sepsis Patients With Features of Macrophage Activation Syndrome: Reanalysis of a Prior Phase III Trial. ( 26584195 )
2016
29
Visceral leishmaniasis triggering (mimicking) macrophage activation syndrome in a patient with adult onset Still disease. ( 27813355 )
2016
30
Is Interleukin-1 Receptor Blockade Ready for Prime Time in Patients With Severe Sepsis and Macrophage Activation Syndrome? ( 26771789 )
2016
31
Macrophage Activation Syndrome Associated with Adult-Onset Still's Disease Successfully Treated with Anakinra. ( 27818826 )
2016
32
Elevated circulating levels of interferon-I^ and interferon-I^-induced chemokines characterise patients with macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. ( 27296321 )
2016
33
Macrophage activation syndrome in the era of biologic therapy. ( 27009539 )
2016
34
Macrophage activation syndrome: Experience in the questioned role of etoposide. ( 28041909 )
2016
35
Macrophage activation syndrome in a patient with systemic onset of the juvenile idiopathic arthritis. ( 27407277 )
2016
36
Macrophage Activation Syndrome-Associated Markers in Severe Dengue. ( 26941578 )
2016
37
An update on renal involvement in hemophagocytic syndrome (macrophage activation syndrome). ( 27047804 )
2016
38
Macrophage activation syndrome: A severe and frequent manifestation of acute pancreatitis in 362 childhood-onset compared to 1830 adult-onset systemic lupus erythematosus patients. ( 26833399 )
2016
39
Subcutaneous panniculitis-like T-cell lymphoma with macrophage activation syndrome treated by cyclosporine and prednisolone. ( 27990393 )
2016
40
Prognostic factors of macrophage activation syndrome, at the time of diagnosis, in adults patients affected by autoimmune disease: Analysis of 41 cases collected in 2 rheumatologic centers. ( 27664384 )
2016
41
An atypical presentation of adult-onset Still's disease complicated by pulmonary hypertension and macrophage activation syndrome treated with immunosuppression: a case-based review of the literature. ( 27162622 )
2016
42
Macrophage activation syndrome triggered by disseminated tuberculosis with tuberculous gumma in a patient with adult-onset Still's disease and Good's syndrome. ( 27018416 )
2016
43
Recurrent macrophage activation syndrome since toddler age in an adolescent boy with HLA B27 positive juvenile ankylosing spondylitis. ( 27826329 )
2016
44
A xenograft model of macrophage activation syndrome amenable to anti-CD33 and anti-IL-6R treatment. ( 27699249 )
2016
45
Successful Tocilizumab Therapy for Macrophage Activation Syndrome Associated with Adult-Onset Still's Disease: A Case-Based Review. ( 27688774 )
2016
46
Should refractory Kawasaki disease be considered occult macrophage activation syndrome? ( 27639924 )
2016
47
Recurrent macrophage activation syndrome in spondyloarthritis and monoallelic missense mutations in PRF1: a description of one paediatric case. ( 26752080 )
2016
48
Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. ( 26848401 )
2016
49
Disruption of vascular endothelial homeostasis in systemic juvenile idiopathic arthritis-associated macrophage activation syndrome: The dynamic roles of angiopoietin-1 and -2. ( 26908294 )
2016
50
Macrophage activation syndrome complicating adult onset Still's disease: A single center case series and comparison with literature. ( 26672682 )
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:

id 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 23)
id Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.76 ANGPT1 ANGPT2 TNF
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.74 ANGPT1 HMGB1 TNF
3 inflammatory response GO:0006954 9.73 CD163 HMGB1 NLRC4 TNF
4 defense response to virus GO:0051607 9.72 IRF5 PRF1 UNC13D
5 positive regulation of apoptotic process GO:0043065 9.67 HMGB1 IRF5 NLRC4 TNF
6 positive regulation of cell adhesion GO:0045785 9.61 ANGPT1 TNF
7 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.6 HMGB1 TNF
8 positive chemotaxis GO:0050918 9.59 ANGPT1 HMGB1
9 positive regulation of phagocytosis GO:0050766 9.58 RAB27A TNF
10 positive regulation of interferon-beta production GO:0032728 9.56 HMGB1 IRF5
11 positive regulation of interleukin-12 production GO:0032735 9.54 HMGB1 IRF5
12 positive regulation of exocytosis GO:0045921 9.52 RAB27A UNC13D
13 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.51 HMGB1 TNF
14 activation of innate immune response GO:0002218 9.49 HMGB1 NLRC4
15 negative regulation of blood vessel endothelial cell migration GO:0043537 9.48 ANGPT2 HMGB1
16 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.46 ANGPT1 TNF
17 positive regulation of interferon-alpha production GO:0032727 9.4 HMGB1 IRF5
18 negative regulation of cytokine secretion involved in immune response GO:0002740 9.32 ANGPT1 TNF
19 positive regulation of interleukin-6 production GO:0032755 9.3 TNF
20 natural killer cell degranulation GO:0043320 9.26 RAB27A UNC13D
21 positive regulation of regulated secretory pathway GO:1903307 9.16 RAB27A UNC13D
22 glomerulus vasculature development GO:0072012 8.96 ANGPT1 ANGPT2
23 Tie signaling pathway GO:0048014 8.62 ANGPT1 ANGPT2

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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