MCID: MST020
MIFTS: 27

Mast Cell Activation Syndrome

Categories: Rare diseases

Aliases & Classifications for Mast Cell Activation Syndrome

MalaCards integrated aliases for Mast Cell Activation Syndrome:

Name: Mast Cell Activation Syndrome 53
Mcas 53

Classifications:



Summaries for Mast Cell Activation Syndrome

NIH Rare Diseases : 53 Mast cell activation syndrome (MCAS), is an immunological condition in which mast cells mistakenly release too many chemical mediators, resulting in several chronic symptoms involving the skin, gastrointestinal tract, heart, respiratory, and neurologic systems. Mast cells are present throughout most of our bodies and secrete different chemicals during allergic reactions. Symptoms include episodes of abdominal pain, cramping, diarrhea, flushing, itching, wheezing, coughing, lightheadedness and potential problems with "brain fog" or other difficulties with memory. The cause of MCAS is unknown. Treatment includes several combinations of medications like anti-histamines and mast cell stabilizers.

MalaCards based summary : Mast Cell Activation Syndrome, also known as mcas, is related to monoclonal mast cell activation syndrome and nguyen syndrome. An important gene associated with Mast Cell Activation Syndrome is CHIT1 (Chitinase 1). The drugs Protein Kinase Inhibitors and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and heart.

Wikipedia : 76 Mast cell activation syndrome (MCAS) is one type of mast cell activation disorder (MCAD), and is an... more...

Related Diseases for Mast Cell Activation Syndrome

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 monoclonal mast cell activation syndrome 12.5
2 nguyen syndrome 11.4
3 richieri-costa/guion-almeida syndrome 11.1
4 kagami-ogata syndrome 11.1
5 benjamin syndrome 10.9
6 gapo syndrome 10.9
7 mcdonough syndrome 10.9
8 cerebritis 10.1
9 microcephaly 10.1
10 moyamoya disease 1 10.0
11 aneurysm 10.0
12 interstitial cystitis 9.7
13 angioedema 9.7
14 cystitis 9.7
15 food allergy 9.7
16 mediastinitis 9.7
17 polycythemia 9.7
18 breast cancer 9.7
19 sickle cell disease 9.7
20 paine syndrome 9.7

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



Diseases related to Mast Cell Activation Syndrome

Symptoms & Phenotypes for Mast Cell Activation Syndrome

Drugs & Therapeutics for Mast Cell Activation Syndrome

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

(show top 50) (show all 133)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protein Kinase Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
2 Imatinib Mesylate Phase 4,Phase 1,Phase 2,Not Applicable 220127-57-1 123596
3
Omalizumab Approved, Investigational Phase 2, Phase 3 242138-07-4
4
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
5
Denosumab Approved Phase 3 615258-40-7
6 Bone Density Conservation Agents Phase 3
7 Anti-Allergic Agents Phase 2, Phase 3
8 Anti-Asthmatic Agents Phase 2, Phase 3
9 Respiratory System Agents Phase 2, Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
11 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
12 Pharmaceutical Solutions Phase 3,Phase 2
13
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
14
Sunitinib Approved, Investigational Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
15
Everolimus Approved Phase 2 159351-69-6 6442177
16
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
17
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
18
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
19
Fludarabine Approved Phase 2,Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
20
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
21
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
22
Iron Approved Phase 2 7439-89-6 23925
23
Acetaminophen Approved Phase 2 103-90-2 1983
24
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
25
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
26
Granisetron Approved, Investigational Phase 2 109889-09-0 3510
27
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
28
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
29
Lenograstim Approved, Investigational Phase 2 135968-09-1
30
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
31
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1,Not Applicable 128794-94-5 5281078
32
Mycophenolic acid Approved Phase 2,Phase 1,Not Applicable 24280-93-1 446541
33
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
34
Promethazine Approved, Investigational Phase 2 60-87-7 4927
35
rituximab Approved Phase 2 174722-31-7 10201696
36
alemtuzumab Approved, Investigational Phase 2 216503-57-0
37
Vidarabine Approved, Investigational Phase 2,Phase 1,Not Applicable 24356-66-9 32326 21704
38
Busulfan Approved, Investigational Phase 2 55-98-1 2478
39
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
40
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
41
Racepinephrine Approved Phase 2 329-65-7 838
42 tannic acid Approved, Nutraceutical Phase 2
43 Staurosporine Experimental Phase 2 62996-74-1
44
Butyric Acid Experimental, Investigational Phase 2 107-92-6 264
45 4'-N-benzoylstaurosporine Phase 2
46 Specific substance maruyama Phase 2
47 Angiogenesis Inhibitors Phase 2,Phase 1
48 Angiogenesis Modulating Agents Phase 2,Phase 1
49 Antineoplastic Agents, Hormonal Phase 2
50 Hormone Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 74)
# Name Status NCT ID Phase Drugs
1 Imatinib in KIT-negative Systemic Mastocytosis Completed NCT01297777 Phase 4 Imatinib Mesylate
2 A Phase 3 Study to Compare Efficacy and Safety of Masitinib to Placebo in the Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap Unknown status NCT00814073 Phase 3 masitinib (AB1010);placebo
3 The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients Completed NCT01333293 Phase 2, Phase 3 injections
4 Study on Mastocytosis for Rupatadine Treatment Completed NCT01481909 Phase 2, Phase 3 Rupatadin
5 Cladribine Plus Pegylated Interpheron Alfa-2a in Systemic Mastocytosis Recruiting NCT01602939 Phase 2, Phase 3 Cladribine and pegylated interpheron alpha-2a
6 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Recruiting NCT03401060 Phase 3 Denosumab;Placebo
7 Midostaurin in Indolent Systemic Mastocytosis Unknown status NCT01920204 Phase 2 Midostaurin,
8 Evaluation of Response of Dasatinib to Treat Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
9 Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Unknown status NCT01824615 Phase 2 Sunitinib
10 Treatment of Indolent Systemic Mastocytosis With PA101 Completed NCT02478957 Phase 2 PA101;Placebo
11 Everolimus (RAD001) as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
12 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
13 Masitinib in Patients With Mastocytosis With Handicap and Bearing the D816V Mutation Completed NCT01266369 Phase 2 masitinib
14 Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
15 Stem Cell Transplantation to Treat Systemic Mastocytosis Completed NCT00006413 Phase 2
16 Ontak (Denileukin Diftitox) in Patients With Systemic Mastocytosis (SM) Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
17 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2 thalidomide
18 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia Completed NCT01807598 Phase 2 brentuximab vedotin
19 Phase 2 Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia Completed NCT00233454 Phase 2 Midostaurin
20 17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Systemic Mastocytosis Completed NCT00132015 Phase 2 tanespimycin
21 Dasatinib as Therapy for Myeloproliferative Disorders (MPDs) Completed NCT00255346 Phase 2 Dasatinib (BMS-354825)
22 A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related Cancers Completed NCT00109707 Phase 1, Phase 2 Nilotinib
23 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
24 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
25 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
26 Deferasirox in Treating Iron Overload Caused By Blood Transfusions in Patients With Hematologic Malignancies Completed NCT01273766 Phase 2 deferasirox
27 Phase 2 Trial of Prophylactic Rituximab Therapy for Prevention of CGVHD Completed NCT00186628 Phase 2 Rituximab;Anti-thymoglobulin, rabbit (ATG, rabbit ATG);Cyclosporine;Mycophenylate mofetil;Filgrastim;Granisetron;Solumedrol;Acetaminophen;Diphenhydramine;Hydrocortisone
28 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by Cyclosporine and Mycophenolate Mofetil in Treating Patients Who Are Undergoing Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00118352 Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
29 SL-401 in Advanced, High Risk Myeloproliferative Neoplasms (Systemic Mastocytosis, Advanced Symptomatic Hypereosinoophic Disorder, Myelofibrosis, Chronic Myelomonocytic Leukemia) Recruiting NCT02268253 Phase 1, Phase 2 SL-401
30 A Two-Step Approach to Reduced Intensity Bone Marrow Transplant for Patients With Hematological Malignancies Recruiting NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
31 Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia Active, not recruiting NCT00782067 Phase 2 Midostaurin (PKC412)
32 A Randomized, Double-Blind, Placebo-Controlled Study of Omalizumab for Idiopathic Anaphylaxis Active, not recruiting NCT00890162 Phase 2 Epinephrine;Omalizumab (Xolair)
33 Fludarabine Phosphate, Low-Dose Total-Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine, Mycophenolate Mofetil, Donor Lymphocyte Infusion in Treating Patients With Hematopoietic Cancer Active, not recruiting NCT00006251 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
34 Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Not yet recruiting NCT03580655 Phase 2 Avapritinib
35 CD16/IL-15/CD33 Tri-Specific Killer Engagers (TriKes) for CD33+ Hem Malignancies Not yet recruiting NCT03214666 Phase 1, Phase 2 161533 Trike Phase I;161533 Trike Phase II
36 Cromoglicate in Mastocytosis Terminated NCT01701843 Phase 2 Cromoglicate;Placebo
37 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
38 Obatoclax for Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
39 Sunitinib in Treating Patients With Idiopathic Myelofibrosis Terminated NCT00387426 Phase 2 sunitinib malate
40 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1 Akt inhibitor MK2206
41 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1 sunitinib malate
42 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (advSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 Avapritinib
43 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618
44 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Active, not recruiting NCT02808793 Phase 1 AK002
45 Use of Tamoxifen in Systemic Mastocytosis Unknown status NCT01334996
46 Clonal Mast Cell Disorders in Exercise-Induced Anaphylaxis Unknown status NCT01326741
47 Molecular Mechanisms and Diagnosis of Mastocytosis Completed NCT00336076
48 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
49 Cause and Natural Course of Pediatric-Onset Mastocytosis Completed NCT00050193
50 Characteristics of Mast Cells in Mastocytosis Completed NCT00001356

Search NIH Clinical Center for Mast Cell Activation Syndrome

Genetic Tests for Mast Cell Activation Syndrome

Anatomical Context for Mast Cell Activation Syndrome

MalaCards organs/tissues related to Mast Cell Activation Syndrome:

41
Skin, Brain, Heart, Bone, Bone Marrow, Myeloid, Testes

Publications for Mast Cell Activation Syndrome

Articles related to Mast Cell Activation Syndrome:

(show all 45)
# Title Authors Year
1
A case of neuropathic pain in monoclonal mast cell activation syndrome. ( 29481890 )
2018
2
Mast Cell Activation Syndrome: Importance of Consensus Criteria and Call for Research. ( 29928922 )
2018
3
White matter abnormalities are also repeatedly present in patients with systemic mast cell activation syndrome. ( 29743606 )
2018
4
Idiopathic Mast Cell Activation Syndrome With Associated Salicylate Intolerance. ( 29637062 )
2018
5
Management of a Parturient with Mast Cell Activation Syndrome: An Anesthesiologist's Experience. ( 29951321 )
2018
6
Generalized pruritus relieved by NSAIDs in the setting of mast cell activation syndrome. ( 29577987 )
2018
7
Characterization of Mast Cell Activation Syndrome. ( 28262205 )
2017
8
Continuous diphenhydramine infusion and imatinib for KIT-D816V-negative mast cell activation syndrome: a case report. ( 28438191 )
2017
9
Successful Management of a Patient With Possible Mast Cell Activation Syndrome Undergoing Pulmonary Embolectomy: A Case Report. ( 28181942 )
2017
10
Risk of solid cancer in patients with mast cell activation syndrome: Results from Germany and USA. ( 29225779 )
2017
11
Mast Cell Activation Syndrome Mimicking Breast Cancer: Case Report With Pathophysiologic Considerations. ( 29305308 )
2017
12
Lower prevalence of vitamin D insufficiency in German patients with systemic mast cell activation syndrome compared with the general population. ( 29212100 )
2017
13
Successful targeted treatment of mast cell activation syndrome with tofacitinib. ( 28382662 )
2017
14
Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing. ( 28386644 )
2017
15
Mast Cell Activation Syndrome. ( 29282192 )
2017
16
Possible mast cell activation syndrome in a patient undergoing long-term hemodialysis. ( 27033139 )
2016
17
Advances in the understanding and clinical management of mastocytosis and clonal mast cell activation syndromes. ( 27909577 )
2016
18
Mast cell activation syndrome in pain syndromes bladder pain syndrome/interstitial cystitis and vulvodynia. ( 27297031 )
2016
19
Menstrual anaphylactoid reactions and presumed systemic mast cell activation syndrome. ( 27405897 )
2016
20
A novel combination of an IgE mediated adult onset food allergy and a suspected mast cell activation syndrome presenting as anaphylaxis. ( 27660640 )
2016
21
Anti-Amoxicillin Immunoglobulin E, Histamine-2 Receptor Antagonist Therapy and Mast Cell Activation Syndrome Are Risk Factors for Amoxicillin Anaphylaxis. ( 25968421 )
2015
22
Ketotifen use in a patient with fire ant hypersensitivity and mast cell activation syndrome. ( 25868710 )
2015
23
Mast Cell Activation Syndrome. ( 25944644 )
2015
24
Successful treatment of mast cell activation syndrome with sunitinib. ( 26072665 )
2015
25
Mast cell activation syndrome. ( 26816856 )
2015
26
Familial hypertryptasemia with associated mast cell activation syndrome. ( 25086867 )
2014
27
Mast cell activation syndrome as a significant comorbidity in sickle cell disease. ( 25171546 )
2014
28
Mast cell activation syndrome: improved identification by combined determinations of serum tryptase and 24-hour urine 11I^-prostaglandin2I+. ( 25439370 )
2014
29
Omalizumab effectively prevents recurrent refractory anaphylaxis in a patient with monoclonal mast cell activation syndrome. ( 24950847 )
2014
30
Improved metastatic uterine papillary serous cancer outcome with treatment of mast cell activation syndrome. ( 24701700 )
2014
31
Utility of hydroxyurea in mast cell activation syndrome. ( 24192267 )
2013
32
Mast cell activation syndrome: a review. ( 23179866 )
2013
33
Immunology and clinical manifestations of non-clonal mast cell activation syndrome. ( 23212667 )
2013
34
Clonal mast cell activation syndrome with anaphylaxis to sulfites. ( 23816954 )
2013
35
Management of a parturient with mast cell activation syndrome. ( 23218498 )
2013
36
Omalizumab mitigates anaphylaxis during ultrarush honey bee venom immunotherapy in monoclonal mast cell activation syndrome. ( 24565720 )
2013
37
Nonhistaminergic idiopathic angioedema may be a presentation of mast cell activation syndrome. ( 23967766 )
2013
38
Prevention of anaphylaxis related to mast cell activation syndrome with omalizumab. ( 22541416 )
2012
39
Sclerosing mediastinitis and mast cell activation syndrome. ( 22296862 )
2012
40
Mast cell activation syndrome (MCAS) diagnosed using double-balloon enteroscopy. ( 22396288 )
2012
41
Mast cell activation syndrome masquerading as agranulocytosis. ( 22338992 )
2012
42
Polycythemia from mast cell activation syndrome: lessons learned. ( 21642812 )
2011
43
Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects. ( 20838788 )
2010
44
New aspects of liver abnormalities as part of the systemic mast cell activation syndrome. ( 18662284 )
2009
45
Diagnostic and subdiagnostic accumulation of mast cells in the bone marrow of patients with anaphylaxis: Monoclonal mast cell activation syndrome. ( 17057414 )
2007

Variations for Mast Cell Activation Syndrome

Expression for Mast Cell Activation Syndrome

Search GEO for disease gene expression data for Mast Cell Activation Syndrome.

Pathways for Mast Cell Activation Syndrome

GO Terms for Mast Cell Activation Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 8.62 CHIT1 KIT

Sources for Mast Cell 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
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