Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
SMCD
MCID: SYS004
MIFTS: 62

Systemic Mastocytosis (SMCD)

Categories: Blood diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Systemic Mastocytosis

About this section

MalaCards integrated aliases for Systemic Mastocytosis:

Name: Systemic Mastocytosis 12 73 20 43 58 15 37
Mast Cell Disease, Systemic 43 29 6
Mastocytosis, Systemic 43 44 70
Systemic Tissue Mast Cell Disease 12 43
Systemic Mast Cell Disease 20 43
Corneal Dystrophy, Subepithelial Mucinous 70
Smcd - Systemic Mast Cell Disease 12
Systemic Mast-Cell Disease 43
Systemic Mastocytoses 43
Mastocytosis Systemic 54
Smcd 20

Characteristics:

Orphanet epidemiological data:

58
systemic mastocytosis
Inheritance: Not applicable; Prevalence: 1-9/100000 (France),1-9/100000 (Worldwide),1-9/1000000 (Denmark),1-5/10000 (Denmark),1-9/1000000 (Europe),1-5/10000 (Netherlands),1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare haematological diseases


Sources

Summaries for Systemic Mastocytosis

About this section
MedlinePlus Genetics : 43 Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.Signs and symptoms of systemic mastocytosis often include extreme tiredness (fatigue), skin redness and warmth (flushing), nausea, abdominal pain, bloating, diarrhea, the backflow of stomach acids into the esophagus (gastroesophageal reflux), nasal congestion, shortness of breath, low blood pressure (hypotension), lightheadedness, and headache. Some affected individuals have attention or memory problems, anxiety, or depression. Many individuals with systemic mastocytosis develop a skin condition called urticaria pigmentosa, which is characterized by raised patches of brownish skin that sting or itch with contact or changes in temperature. Nearly half of individuals with systemic mastocytosis will experience severe allergic reactions (anaphylaxis).There are five subtypes of systemic mastocytosis, which are differentiated by their severity and the signs and symptoms. The mildest forms of systemic mastocytosis are the indolent and smoldering types. Individuals with these types tend to have only the general signs and symptoms of systemic mastocytosis described above. Individuals with smoldering mastocytosis may have more organs affected and more severe features than those with indolent mastocytosis. The indolent type is the most common type of systemic mastocytosis.The severe types include aggressive systemic mastocytosis, systemic mastocytosis with an associated hematologic neoplasm, and mast cell leukemia. These types are associated with a reduced life span, which varies among the types and affected individuals. In addition to the general signs and symptoms of systemic mastocytosis, these types typically involve impaired function of an organ, such as the liver, spleen, or lymph nodes. The organ dysfunction can result in an abnormal buildup of fluid in the abdominal cavity (ascites). Aggressive systemic mastocytosis is associated with a loss of bone tissue (osteoporosis and osteopenia) and multiple bone fractures. Systemic mastocytosis with an associated hematologic neoplasm and mast cell leukemia both involve blood cell disorders or blood cell cancer (leukemia). Mast cell leukemia is the rarest and most severe type of systemic mastocytosis.Individuals with the milder forms of the condition generally have a normal or near normal life expectancy, while those with the more severe forms typically survive months or a few years after diagnosis.

MalaCards based summary : Systemic Mastocytosis, also known as mast cell disease, systemic, is related to systemic mastocytosis with associated hematologic neoplasm and mast-cell leukemia. An important gene associated with Systemic Mastocytosis is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Imatinib Mesylate and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and spleen, and related phenotypes are nausea and vomiting and malabsorption

GARD : 20 Systemic mastocytosis (SM) is a form of mastocytosis in which mast cells accumulate in internal tissues and organs such as the liver, spleen, bone marrow, and small intestines. It is typically diagnosed in adults. Signs and symptoms vary based on which parts of the body are affected. The disorder is usually caused by somatic changes ( mutations ) in the KIT gene. Most cases are sporadic and not inherited, but familial cases rarely have been reported. Systemic mastocytosis can be divided into 4 main categories which are distinguished by various features: Indolent systemic mastocytosis (ISM) Systemic mastocytosis with an associated hematologic nonmast cell lineage disorder (SM-AHNMD) Aggressive systemic mastocytosis (ASM) Mast cell leukemia (MCL) Once a person is diagnosed, the category of SM must be determined, as treatment and prognosis differ for each.

Wikipedia : 73 Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused... more...

Sources

Related Diseases for Systemic Mastocytosis

About this section

Diseases in the Mastocytosis family:

Systemic Mastocytosis

Diseases related to Systemic Mastocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 360)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis with associated hematologic neoplasm 32.5 TET2 SRSF2 KIT ASXL1
2 mast-cell leukemia 32.5 TNFRSF8 KITLG KIT
3 indolent systemic mastocytosis 31.8 TPSAB1 TNFRSF8 TET2 SRSF2 KITLG KIT
4 sm-ahnmd 31.4 TET2 SRSF2 PDGFRA KITLG KIT JAK2
5 mastocytosis, cutaneous 31.0 TET2 PDGFRA KITLG KIT IFNA2 FIP1L1
6 aggressive systemic mastocytosis 30.9 TNFRSF8 TET2 STAT5A SRSF2 PDGFRB PDGFRA
7 thrombocytosis 30.8 TET2 KITLG JAK2 ASXL1
8 leukemia 30.7 TET2 KIT JAK2 FGFR1 CHIC2 ASXL1
9 myeloid leukemia 30.7 TET2 STAT5B STAT5A KIT JAK2 CHIC2
10 mast-cell sarcoma 30.6 KITLG KIT FIP1L1 CD2
11 thrombocytopenia 30.6 TNFRSF8 PDGFRA KITLG KIT JAK2 IFNA2
12 acute leukemia 30.5 KITLG KIT JAK2 FGFR1
13 mast cell neoplasm 30.5 KITLG KIT HDC CD2
14 chronic myelomonocytic leukemia 30.4 TET2 STAT5A SRSF2 PDGFRB PDGFRA KIT
15 gastrointestinal stromal tumor 30.3 PDGFRB PDGFRA KITLG KIT JAK2
16 pdgfra-associated chronic eosinophilic leukemia 30.3 PDGFRA FIP1L1
17 childhood acute myeloid leukemia 30.3 TET2 KIT ASXL1
18 refractory anemia 30.3 TET2 JAK2 ASXL1
19 hypereosinophilic syndrome 30.3 STAT5B PDGFRB PDGFRA KIT JAK2 IL2RA
20 hypereosinophilic syndrome, idiopathic 30.2 PDGFRB PDGFRA KIT FIP1L1
21 neurofibroma 30.2 PDGFRA KITLG KIT
22 extracutaneous mastocytoma 30.2 TET2 SRSF2 KITLG KIT FIP1L1 CD2
23 dysgerminoma of ovary 30.2 KITLG KIT
24 myelodysplastic syndrome 30.1 TET2 STAT5B STAT5A SRSF2 PDGFRB KITLG
25 budd-chiari syndrome 30.1 PDGFRA JAK2 FIP1L1
26 b-lymphoblastic leukemia/lymphoma 30.1 KITLG KIT IL2RA FGFR1
27 essential thrombocythemia 30.0 TET2 STAT5B STAT5A KIT JAK2 IFNA2
28 hematologic cancer 30.0 TNFRSF8 STAT5B STAT5A PDGFRB KITLG KIT
29 polycythemia 30.0 TET2 STAT5B STAT5A KITLG JAK2
30 severe combined immunodeficiency 29.9 STAT5B STAT5A KITLG KIT IL2RA
31 myelofibrosis 29.8 TET2 STAT5B STAT5A SRSF2 PDGFRB KIT
32 myeloproliferative neoplasm 29.8 TET2 STAT5B STAT5A PDGFRB PDGFRA KITLG
33 mastocytosis 29.7 TPSAB1 TNFRSF8 TET2 STAT5B STAT5A SRSF2
34 atypical chronic myeloid leukemia 29.6 TET2 SRSF2 PDGFRB PDGFRA JAK2 FGFR1
35 leukemia, chronic myeloid 29.6 STAT5B STAT5A PDGFRB PDGFRA KITLG KIT
36 myelodysplastic/myeloproliferative neoplasm 29.4 TET2 STAT5B STAT5A SRSF2 PDGFRB PDGFRA
37 chronic eosinophilic leukemia 29.3 TET2 STAT5B STAT5A PDGFRB PDGFRA KIT
38 leukemia, acute lymphoblastic 29.3 TNFRSF8 STAT5B STAT5A KITLG KIT JAK2
39 leukemia, acute myeloid 29.1 TNFRSF8 TET2 STAT5B STAT5A SRSF2 PDGFRB
40 polycythemia vera 29.0 TET2 STAT5B STAT5A PDGFRB PDGFRA KITLG
41 corneal dystrophy, subepithelial mucinous 11.3
42 smoldering systemic mastocytosis 11.2
43 mastocytic enterocolitis 11.1
44 monoclonal mast cell activation syndrome 11.1
45 urticaria 10.8
46 splenomegaly 10.6
47 osteoporosis 10.6
48 bone mineral density quantitative trait locus 8 10.6
49 bone mineral density quantitative trait locus 15 10.6
50 portal hypertension 10.5

Graphical network of the top 20 diseases related to Systemic Mastocytosis:



Diseases related to Systemic Mastocytosis
Sources

Symptoms & Phenotypes for Systemic Mastocytosis

About this section

Human phenotypes related to Systemic Mastocytosis:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 nausea and vomiting 31 hallmark (90%) HP:0002017
2 malabsorption 31 hallmark (90%) HP:0002024
3 abdominal pain 31 hallmark (90%) HP:0002027
4 urticaria 31 hallmark (90%) HP:0001025
5 headache 31 hallmark (90%) HP:0002315
6 mastocytosis 31 hallmark (90%) HP:0100495
7 abnormal eosinophil morphology 31 hallmark (90%) HP:0001879
8 anemia 31 frequent (33%) HP:0001903
9 osteoporosis 31 frequent (33%) HP:0000939
10 thrombocytopenia 31 frequent (33%) HP:0001873
11 skin rash 31 frequent (33%) HP:0000988
12 generalized osteosclerosis 31 frequent (33%) HP:0005789
13 leukopenia 31 frequent (33%) HP:0001882
14 impaired temperature sensation 31 frequent (33%) HP:0010829
15 sudden cardiac death 31 occasional (7.5%) HP:0001645
16 splenomegaly 31 occasional (7.5%) HP:0001744
17 hepatomegaly 31 occasional (7.5%) HP:0002240
18 portal hypertension 31 occasional (7.5%) HP:0001409
19 ascites 31 occasional (7.5%) HP:0001541
20 cirrhosis 31 occasional (7.5%) HP:0001394
21 arthralgia 31 occasional (7.5%) HP:0002829
22 myalgia 31 occasional (7.5%) HP:0003326
23 recurrent fractures 31 occasional (7.5%) HP:0002757
24 asthma 31 occasional (7.5%) HP:0002099
25 abnormality of the gastric mucosa 31 occasional (7.5%) HP:0004295
26 acute leukemia 31 occasional (7.5%) HP:0002488
27 chronic leukemia 31 occasional (7.5%) HP:0005558
28 bone pain 31 occasional (7.5%) HP:0002653
29 osteolysis 31 occasional (7.5%) HP:0002797
30 bone marrow hypocellularity 31 occasional (7.5%) HP:0005528
31 lymphadenopathy 31 occasional (7.5%) HP:0002716

GenomeRNAi Phenotypes related to Systemic Mastocytosis according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.78 FIP1L1
2 Decreased viability GR00173-A 9.78 PDGFRA
3 Decreased viability GR00221-A-1 9.78 FGFR1 KIT PDGFRA PDGFRB
4 Decreased viability GR00221-A-2 9.78 FGFR1 JAK2
5 Decreased viability GR00221-A-3 9.78 PDGFRA PDGFRB
6 Decreased viability GR00221-A-4 9.78 PDGFRA PDGFRB
7 Decreased viability GR00249-S 9.78 CD2 FIP1L1 IL2RA PDGFRA
8 Decreased viability GR00301-A 9.78 KIT
9 Decreased viability GR00342-S-1 9.78 PDGFRB
10 Decreased viability GR00381-A-1 9.78 TPSAB1
11 Decreased viability GR00386-A-1 9.78 CHIC2 FGFR1 FIP1L1 HDC KITLG SRSF2
12 Decreased viability GR00402-S-2 9.78 IL2RA PDGFRA SRSF2 TNFRSF8

MGI Mouse Phenotypes related to Systemic Mastocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.25 ASXL1 CHIC2 FGFR1 IL2RA JAK2 KIT
2 hematopoietic system MP:0005397 10.22 ASXL1 CHIC2 ENPP3 FGFR1 HDC IL2RA
3 growth/size/body region MP:0005378 10.21 ASXL1 CHIC2 ENPP3 FGFR1 HDC IL2RA
4 cellular MP:0005384 10.2 ASXL1 FGFR1 JAK2 KIT KITLG PDGFRA
5 immune system MP:0005387 10.16 ASXL1 CHIC2 ENPP3 FGFR1 HDC IL2RA
6 digestive/alimentary MP:0005381 10.03 ASXL1 ENPP3 FGFR1 IL2RA KIT KITLG
7 integument MP:0010771 9.85 CHIC2 FGFR1 HDC JAK2 KIT KITLG
8 mortality/aging MP:0010768 9.8 ASXL1 CHIC2 ENPP3 FGFR1 IL2RA JAK2
9 normal MP:0002873 9.28 CD2 FGFR1 JAK2 KIT PDGFRA PDGFRB
Sources

Drugs & Therapeutics for Systemic Mastocytosis

About this section

Drugs for Systemic Mastocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Imatinib Mesylate Phase 4 220127-57-1 123596
2 Protein Kinase Inhibitors Phase 4
3
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
4
Denosumab Approved Phase 3 615258-40-7
5 2-chloro-3'-deoxyadenosine Phase 3
6 interferons Phase 3
7 Interferon-alpha Phase 3
8 Antidepressive Agents Phase 3
9 Cromolyn Sodium Phase 3
10 Histamine Antagonists Phase 3
11 Leukotriene Antagonists Phase 3
12 Histamine H1 Antagonists Phase 3
13 Proton Pump Inhibitors Phase 3
14 Pharmaceutical Solutions Phase 3
15
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
16
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
17
midostaurin Approved, Investigational Phase 2 120685-11-2 9829523 104937
18
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
19
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
20
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
21
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
22
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
23
Obatoclax Investigational Phase 2 803712-67-6
24 Immunoconjugates Phase 2
25 Immunosuppressive Agents Phase 2
26 Interleukin-2 Phase 2
27 Angiogenesis Inhibitors Phase 2
28 Anti-Infective Agents Phase 2
29 Anti-Bacterial Agents Phase 2
30
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 5743
31
Acetaminophen Approved Phase 1 103-90-2 1983
32
Promethazine Approved, Investigational Phase 1 60-87-7 4927
33
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3
34
Histamine Approved, Investigational Phase 1 51-45-6, 75614-87-8 774
35
Ranitidine Approved, Withdrawn Phase 1 66357-35-5, 66357-59-3, 82530-72-1 3001055
36
Diphenhydramine Approved, Investigational Phase 1 58-73-1, 147-24-0 3100
37
Ichthammol Approved Phase 1 8029-68-3
38
Ibuprofen Approved Phase 1 15687-27-1 3672
39 Analgesics, Non-Narcotic Phase 1
40 Analgesics Phase 1
41 Gastrointestinal Agents Phase 1
42 Ranitidine bismuth citrate Phase 1
43 Cyclooxygenase Inhibitors Phase 1
44 Hypnotics and Sedatives Phase 1
45 Anesthetics Phase 1
46 Hormone Antagonists Phase 1
47 glucocorticoids Phase 1
48 Neurotransmitter Agents Phase 1
49 Antirheumatic Agents Phase 1
50 Histamine H2 Antagonists Phase 1

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Imatinib Mesylate Therapy in Systemic Mastocytosis Patients Lacking KIT Mutations Completed NCT01297777 Phase 4 Imatinib Mesylate
2 Subcutaneous Cladribine Plus Pegylated Interpheron Alfa-2a in Advanced Systemic Mastocytosis With D816V and Other Exon 17 KIT Mutations. Unknown status NCT01602939 Phase 2, Phase 3 Cladribine and pegylated interpheron alpha-2a
3 Randomized, Placebo-controlled, Phase 3 Study to Compare Efficacy and Safety of Masitinib at 6 mg/kg/Day to Placebo in Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap Completed NCT00814073 Phase 3 Masitinib;Placebo
4 Phase 3 Study to Compare Oral Masitinib to Placebo in Treatment of Patients With Smouldering or Indolent Severe Systemic Mastocytosis, Unresponsive to Optimal Symptomatic Treatment Recruiting NCT04333108 Phase 3 Masitinib
5 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Recruiting NCT03401060 Phase 3 Denosumab;Placebo
6 Multicenter, Open-Label, Single Arm Phase II Clinical Trial of Dasatinib in the Treatment of Systemic Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
7 Phase II Single Arm Open Pilot Study to Demonstrate the Efficacy of Midostaurin in Symptom Improvement and Decrease of Mast Cell Burden in Patients With Indolent or Smoldering Systemic Mastocytosis. Unknown status NCT01920204 Phase 2 Midostaurin,
8 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
9 A Study of Brentuximab Vedotin (SGN-35) in CD30-Positive Systemic Mastocytosis With or Without an Associated Hematological Clonal Non-Mast Cell Lineage Disease (AHNMD) Completed NCT01807598 Phase 2 Brentuximab vedotin
10 Evaluation of RAD001 as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
11 A Single Arm, Phase 2, Open-Label Study to Determine the Efficacy of Twice Daily Oral Dosing of PKC412 <Midostaurin> Administered to Patients With Aggressive Systemic Mastocytosis (ASM) and Mast Cell Leukemia (MCL) Completed NCT00233454 Phase 2 Midostaurin
12 Randomized, Double-blind, Placebo-controlled, Crossover Design, Efficacy and Safety Study With PA101 in Patients With Indolent Systemic Mastocytosis Completed NCT02478957 Phase 2 PA101;Placebo
13 ONTAK (Denileukin Diftitox) in Patients With Systemic Mastocytosis Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
14 A Phase II Clinical Trial of 17-(Allylamino)-17- Demethoxygeldanamycin (17-AAG, NSC 330507 and EPL Diluent, NSC 704057) in Adults With Systemic Mastocytosis Completed NCT00132015 Phase 2 tanespimycin
15 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Systemic Mastocytosis Completed NCT00006413 Phase 2
16 A Single Arm, Phase II, Open-Label Study to Determine the Efficacy of 100mg Twice Daily Oral Dosing of Midostaurin Administered to Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia +/- an Associated Hematological Clonal Non-Mast Cell Lineage Disease Completed NCT00782067 Phase 2 Midostaurin (PKC412)
17 A Phase IA/II Multicenter, Dose-escalation Study of Oral AMN107 on a Continuous Daily Dosing Schedule in Adult Patients With Imatinib-resistant/Intolerant CML in Chronic or Accelerated Phase or Blast Crisis, Relapsed/Refractory Ph+ ALL, and Other Hematologic Malignancies. Completed NCT00109707 Phase 1, Phase 2 Nilotinib
18 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
19 A Phase 2 Randomized Double-Blinded Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutaneous Sarilumab in Improving the Quality of Life in Subjects With Indolent Systemic Mastocytosis Recruiting NCT03770273 Phase 2
20 A 3-Part, Randomized, Double-Blind, Placebo-Controlled Phase 2 Study to Evaluate Safety and Efficacy of Avapritinib (BLU-285), a Selective KIT Mutation-Targeted Tyrosine Kinase Inhibitor, in Indolent and Smoldering Systemic Mastocytosis With Symptoms Inadequately Controlled With Standard Therapy Recruiting NCT03731260 Phase 2 Avapritinib;Placebo
21 GTB-3550 (CD16/IL-15/CD33)Tri-Specific Killer Engager (TriKEâ„¢) for the Treatment of High Risk Myelodysplastic Syndromes, Refractory/Relapsed Acute Myeloid Leukemia and Advanced Systemic Mastocytosis Recruiting NCT03214666 Phase 1, Phase 2 GTB-3550 TriKEâ„¢ Phase I;GTB-3550 TriKEâ„¢ Phase II
22 Tagraxofusp (SL-401) in Patients With Chronic Myelomonocytic Leukemia (CMML) or Myelofibrosis (MF). [Prior Title: SL-401 in Patients With Advanced, High Risk Myeloproliferative Neoplasms (Systemic Mastocytosis, Advanced Symptomatic Primary Eosinophilic Disorder, Myelofibrosis, Chronic Myelomonocytic Leukemia).] Recruiting NCT02268253 Phase 2 SL-401
23 An Open-label, Single Arm, Phase 2 Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Active, not recruiting NCT03580655 Phase 2 Avapritinib
24 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
25 Evaluation of Obatoclax Mesylate as Therapy for Patients With Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
26 A Phase 2 Study to Evaluate the Anti-Tumor Activity of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Withdrawn NCT03739606 Phase 2
27 A Phase 1, Single Ascending Dose and Multiple Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 in Patients With Indolent Systemic Mastocytosis Completed NCT02808793 Phase 1 AK002
28 A Phase 1 Trial to Evaluate the Safety of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Recruiting NCT04681105 Phase 1 Acetaminophen;Dexamethasone;Diphenhydramine;Ibuprofen;Ranitidine
29 A Multicenter Phase 1, Open-Label Study of DCC-2618 to Assess Safety, Tolerability, and Pharmacokinetics in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618;DCC-2618
30 A Phase 1 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies Active, not recruiting NCT02561988 Phase 1 Avapritinib
31 Mast Cell Connect: A Registry for Patients With Mastocytosis Completed NCT02620254
32 Patient-Reported Outcome Questionnaire Development for Symptoms of Systemic Mastocytosis Completed NCT02380222
33 Treatment of Systemic Mastocytosis With Tamoxifen Completed NCT01334996
34 Evaluation of the Diagnostic Value of Level of Bone Marrow Tryptase in Adult Systemic Mastocytosis Completed NCT02441166
35 Determination of Cytokine Production Patterns in the Skin of Patients With Systemic Mastocytosis and Atopic Dermatitis Using the Suction Blister Technique Completed NCT00001760
36 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Completed NCT03632811
37 Expanded Access Program (EAP) for Avapritinib in Patients With Advanced Systemic Mastocytosis (AdvSM) Available NCT04714086 Avapritinib
38 An External Control, Observational, Retrospective Study Assessing the Effect of Avapritinib Compared With Best Available Therapy for Patients With Advanced Systemic Mastocytosis Enrolling by invitation NCT04695431

Search NIH Clinical Center for Systemic Mastocytosis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


imatinib
Imatinib mesylate

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Systemic Mastocytosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Systemic Mastocytosis:
Peripheral blood-derived hematopoietic stem cells for treatment of systemic mastocytosis
Embryonic/Adult Cultured Cells Related to Systemic Mastocytosis:
Peripheral blood-derived hematopoietic stem cells (family) PMIDs: 10498605

Cochrane evidence based reviews: mastocytosis, systemic

Sources

Genetic Tests for Systemic Mastocytosis

About this section

Genetic tests related to Systemic Mastocytosis:

# Genetic test Affiliating Genes
1 Mast Cell Disease, Systemic 29
Sources

Anatomical Context for Systemic Mastocytosis

About this section

MalaCards organs/tissues related to Systemic Mastocytosis:

40
Bone Marrow, Myeloid, Spleen, Skin, Bone, Lymph Node, Uterus
Sources

Publications for Systemic Mastocytosis

About this section

Articles related to Systemic Mastocytosis:

(show top 50) (show all 1818)
# Title Authors PMID Year
1
Phase II study of dasatinib in Philadelphia chromosome-negative acute and chronic myeloid diseases, including systemic mastocytosis. 61 6
18559612 2008
2
Familial systemic mastocytosis with germline KIT K509I mutation is sensitive to treatment with imatinib, dasatinib and PKC412. 20 61
25139846 2014
3
Systemic mastocytosis in adults: a review on prognosis and treatment based on 342 Mayo Clinic patients and current literature. 61 54
20075725 2010
4
Phospho-STAT5 and phospho-Akt expression in chronic myeloproliferative neoplasms. 54 61
19747364 2009
5
Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. 54 61
19541349 2009
6
Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia. 54 61
19669220 2009
7
The c-Kit/D816V mutation eliminates the differences in signal transduction and biological responses between two isoforms of c-Kit. 54 61
19049823 2009
8
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. 61 54
19175693 2009
9
Utility of the World Heath Organization classification criteria for the diagnosis of systemic mastocytosis in bone marrow. 61 54
19116630 2009
10
Oncogenic signals as treatment targets in classic myeloproliferative neoplasms. 54 61
19147089 2009
11
Mast cells and mastocytosis. 61 54
20203509 2009
12
The identification and characterisation of novel KIT transcripts in aggressive mast cell malignancies and normal CD34+ cells. 61 54
18766971 2008
13
Systemic mastocytosis with associated myeloproliferative disease and precursor B lymphoblastic leukaemia with t(13;13)(q12;q22) involving FLT3. 61 54
18663058 2008
14
Pharmacological targeting of the KIT growth factor receptor: a therapeutic consideration for mast cell disorders. 54 61
18500355 2008
15
Phase II, open-label study evaluating the activity of imatinib in treating life-threatening malignancies known to be associated with imatinib-sensitive tyrosine kinases. 54 61
18451237 2008
16
Unique effects of KIT D816V in BaF3 cells: induction of cluster formation, histamine synthesis, and early mast cell differentiation antigens. 61 54
18390729 2008
17
KIT and mastocytosis. 61 54
18566536 2008
18
The origin of neoplastic mast cells in systemic mastocytosis with AML1/ETO-positive acute myeloid leukemia. 54 61
17976525 2007
19
Genetic and pharmacologic evidence implicating the p85 alpha, but not p85 beta, regulatory subunit of PI3K and Rac2 GTPase in regulating oncogenic KIT-induced transformation in acute myeloid leukemia and systemic mastocytosis. 54 61
17483298 2007
20
Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. 54 61
17551405 2007
21
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 61 54
17259998 2007
22
Sensitive detection of KIT D816V in patients with mastocytosis. 61 54
17040960 2006
23
Effects of AMN107, a novel aminopyrimidine tyrosine kinase inhibitor, on human mast cells bearing wild-type or mutated codon 816 c-kit. 54 61
16797704 2006
24
KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. 54 61
16741248 2006
25
Atypical myeloproliferative disorders: diagnosis and management. 61 54
16610578 2006
26
Immunohistochemical detection of histidine decarboxylase in neoplastic mast cells in patients with systemic mastocytosis. 61 54
16564918 2006
27
Dasatinib (BMS-354825), a dual SRC/ABL kinase inhibitor, inhibits the kinase activity of wild-type, juxtamembrane, and activation loop mutant KIT isoforms associated with human malignancies. 54 61
16397263 2006
28
[Isolated lymphadenopathy as the first presentation of systemic mastocytosis--description of two cases]. 54 61
16506600 2006
29
PKC412 inhibits in vitro growth of neoplastic human mast cells expressing the D816V-mutated variant of KIT: comparison with AMN107, imatinib, and cladribine (2CdA) and evaluation of cooperative drug effects. 54 61
16189265 2006
30
Modern diagnosis and treatment of primary eosinophilia. 54 61
15995325 2005
31
Clonality and molecular pathogenesis of mastocytosis. 61 54
15995326 2005
32
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. 61 54
14687620 2004
33
Use of interferon alpha-2b and prednisolone in the treatment of severe intractable diarrhea in a child with systemic mastocytosis. 54 61
14651557 2003
34
Signal transduction by several KIT juxtamembrane domain mutations. 61 54
12879016 2003
35
Elevated serum tryptase levels identify a subset of patients with a myeloproliferative variant of idiopathic hypereosinophilic syndrome associated with tissue fibrosis, poor prognosis, and imatinib responsiveness. 61 54
12676775 2003
36
Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL. 54 61
12688351 2003
37
An immunohistochemical study of the bone marrow lesions of systemic mastocytosis: expression of stem cell factor by lesional mast cells. 54 61
12162685 2002
38
Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. 54 61
11380399 2001
39
Immunohistochemical properties of bone marrow mast cells in systemic mastocytosis: evidence for expression of CD2, CD117/Kit, and bcl-x(L). 54 61
11381374 2001
40
Effects of mutant c-kit in early myeloid cells. 54 61
10721793 2000
41
Effects of mutant c-Kit in early myeloid cells. 61 54
10492068 1999
42
Multilineage involvement and erythropoietin-"independent" erythroid progenitor cells in a patient with systemic mastocytosis. 61 54
9829852 1998
43
Response of severe systemic mastocytosis to interferon alpha. 54 61
9580806 1998
44
Clinical stable systemic mastocytosis with interferon alpha-2b therapy. 54 61
10497631 1997
45
Chronically KIT-stimulated clonally-derived human mast cells show heterogeneity in different tissue microenvironments. 54 61
9129234 1997
46
The presence of membrane-bound stem cell factor on highly immature nonmetachromatic mast cells in the peripheral blood of a patient with aggressive systemic mastocytosis. 61 54
8876560 1996
47
Treatment of three patients with systemic mastocytosis with interferon alpha-2b. 54 61
8882964 1996
48
Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. 54 61
8589724 1996
49
A novel heparin-dependent processing pathway for human tryptase. Autocatalysis followed by activation with dipeptidyl peptidase I. 54 61
8613553 1996
50
Successful treatment of osteoporosis in systemic mastocytosis with interferon alpha-2b. 61 54
8605279 1996
Sources

Variations for Systemic Mastocytosis

About this section

ClinVar genetic disease variations for Systemic Mastocytosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIT NM_000222.2(KIT):c.2459A>T (p.Asp820Val) SNV Likely pathogenic 376148 rs121913682 GRCh37: 4:55599333-55599333
GRCh38: 4:54733167-54733167
2 KIT NM_000222.2(KIT):c.2872A>G (p.Asn958Asp) SNV Uncertain significance 592102 rs1560426461 GRCh37: 4:55604664-55604664
GRCh38: 4:54738498-54738498
Sources

Expression for Systemic Mastocytosis

About this section
Search GEO for disease gene expression data for Systemic Mastocytosis.
Sources

Pathways for Systemic Mastocytosis

About this section

Pathways related to Systemic Mastocytosis according to GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 14.05 TNFRSF8 STAT5B STAT5A PDGFRB PDGFRA KITLG
2
ERK Signaling 63
Show member pathways
 13.8 TNFRSF8 STAT5B STAT5A PDGFRB PDGFRA KITLG
3
GPCR Pathway 63
Show member pathways
 13.71 STAT5B STAT5A PDGFRB PDGFRA KITLG KIT
4
PEDF Induced Signaling 63
Show member pathways
 13.64 TNFRSF8 STAT5B STAT5A PDGFRB PDGFRA KIT
5
TGF-Beta Pathway 63
Show member pathways
 13.46 STAT5B STAT5A PDGFRB PDGFRA KITLG KIT
6
PAK Pathway 63
Show member pathways
 13.27 TNFRSF8 PDGFRB PDGFRA KITLG KIT JAK2
7
Akt Signaling 63
Show member pathways
 13.21 TNFRSF8 STAT5B STAT5A PDGFRB PDGFRA KITLG
8
Phospholipase-C Pathway 63
Show member pathways
 13.08 PDGFRB PDGFRA KITLG KIT IL2RA FGFR1
9
p70S6K Signaling 63
Show member pathways
 13.03 PDGFRB PDGFRA KITLG KIT JAK2 IL2RA
10
Cytokine Signaling in Immune system 65
Show member pathways
 13.01 TNFRSF8 STAT5B STAT5A PDGFRB PDGFRA KITLG
11
PI3K-Akt signaling pathway 36
Show member pathways
 12.93 PDGFRB PDGFRA KITLG KIT JAK2 IL2RA
12
Endometrial cancer 36
Show member pathways
 12.86 STAT5B STAT5A PDGFRB PDGFRA KIT FGFR1
13
Development Angiotensin activation of ERK 23
Show member pathways
 12.84 PDGFRB PDGFRA KITLG KIT JAK2
14
Measles 36
Show member pathways
 12.8 TPSAB1 STAT5B STAT5A JAK2 IL2RA IFNA2
15
MAPK signaling pathway 36 1
12.77 PDGFRB PDGFRA KITLG KIT FGFR1
16
Ras signaling pathway 36
Show member pathways
 12.74 PDGFRB PDGFRA KITLG KIT FGFR1
17
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.74 PDGFRB PDGFRA KITLG KIT FGFR1
18
Glioma 36
Show member pathways
 12.69 STAT5B STAT5A PDGFRB PDGFRA FGFR1
19
ErbB signaling pathway 36 1
Show member pathways
 12.63 STAT5B STAT5A PDGFRB PDGFRA JAK2
20
Immune response IL-23 signaling pathway 23
Show member pathways
 12.59 STAT5B STAT5A PDGFRB PDGFRA JAK2
21
Apoptosis Pathway 69
Show member pathways
 12.45 PDGFRB PDGFRA IL2RA FGFR1
22
Phospholipase D signaling pathway 36
Show member pathways
 12.41 PDGFRB PDGFRA KITLG KIT
23
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.38 STAT5A PDGFRB PDGFRA KITLG KIT FGFR1
24
Pathways in cancer 36
12.38 STAT5B STAT5A PDGFRB PDGFRA KITLG KIT
25
Necroptosis 36
Show member pathways
 12.21 STAT5B STAT5A JAK2 IFNA2
26
JAK-STAT signaling pathway 36
Show member pathways
 12.2 STAT5B STAT5A PDGFRB PDGFRA JAK2 IL2RA
27
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.19 PDGFRB PDGFRA KITLG KIT IL2RA IFNA2
28
Kit receptor signaling pathway 1
Show member pathways
 12.09 STAT5B STAT5A KITLG KIT JAK2 ENPP3
29
IL-2 Signaling Pathway 1
Show member pathways
 12.07 STAT5B STAT5A JAK2 IL2RA
30
Tyrosine Kinases / Adaptors 4
12.02 PDGFRB PDGFRA KITLG KIT JAK2 FGFR1
31
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.97 KITLG KIT IL2RA IFNA2 CD2
32
Signaling by ERBB4 65
Show member pathways
 11.95 STAT5B STAT5A JAK2
33
AGE-RAGE signaling pathway in diabetic complications 36
11.91 STAT5B STAT5A JAK2
34
Development EPO-induced Jak-STAT pathway 23
Show member pathways
 11.9 STAT5B STAT5A JAK2
35
Hematopoietic cell lineage 36
11.9 KITLG KIT IL2RA CD2
36
Th17 Differentiation Pathway 64
Show member pathways
 11.86 STAT5B STAT5A JAK2
37
FGFR1 mutant receptor activation 65
Show member pathways
 11.86 STAT5B STAT5A FGFR1
38
Angiogenesis (CST) 4
11.85 PDGFRB PDGFRA FGFR1
39
Immune response IL-2 activation and signaling pathway 23
Show member pathways
 11.85 STAT5B STAT5A JAK2
40
VEGF Pathway (Tocris) 69
Show member pathways
 11.81 PDGFRB KIT FGFR1
41
NF-kappaB Signaling 4
11.79 TNFRSF8 STAT5B STAT5A KITLG KIT JAK2
42
Th1 Differentiation Pathway 64
Show member pathways
 11.77 STAT5B STAT5A JAK2
43
CXCR4-mediated signaling events 1
11.77 STAT5B STAT5A JAK2
44
Commom Cytokine Receptor G Chain Siganaling Pathway 66
11.73 STAT5B STAT5A JAK2 IL2RA
45
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.71 STAT5B STAT5A IL2RA
46
Central carbon metabolism in cancer 36
11.71 PDGFRB PDGFRA KIT FGFR1
47
AGE/RAGE pathway 1
11.7 STAT5B STAT5A JAK2
48
IL4-mediated signaling events 1
11.67 STAT5B STAT5A JAK2
49
PDGFR-beta signaling pathway 1
11.6 STAT5B STAT5A PDGFRB
50
Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics 60
Show member pathways
 11.58 PDGFRB PDGFRA KIT
Sources

GO Terms for Systemic Mastocytosis

About this section

Cellular components related to Systemic Mastocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.26 PDGFRB PDGFRA KIT FGFR1
2 external side of plasma membrane GO:0009897 9.02 PDGFRA KIT IL2RA ENPP3 CD2

Biological processes related to Systemic Mastocytosis according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.95 STAT5B PDGFRB PDGFRA KITLG KIT JAK2
2 positive regulation of cell migration GO:0030335 9.94 PDGFRB PDGFRA KIT JAK2
3 positive regulation of protein kinase B signaling GO:0051897 9.89 PDGFRB PDGFRA KITLG KIT FGFR1
4 defense response GO:0006952 9.88 TPSAB1 STAT5B STAT5A IFNA2
5 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.88 PDGFRB PDGFRA KIT FGFR1
6 protein autophosphorylation GO:0046777 9.88 PDGFRB PDGFRA KIT JAK2 FGFR1
7 positive regulation of tumor necrosis factor production GO:0032760 9.82 TNFRSF8 JAK2 CD2
8 cell chemotaxis GO:0060326 9.82 PDGFRB PDGFRA KIT
9 positive regulation of kinase activity GO:0033674 9.81 PDGFRB PDGFRA KIT FGFR1
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.8 KIT JAK2 IFNA2
11 cytokine-mediated signaling pathway GO:0019221 9.8 STAT5B STAT5A KIT JAK2 IL2RA IFNA2
12 phosphatidylinositol-mediated signaling GO:0048015 9.78 PDGFRB PDGFRA FGFR1
13 positive regulation of MAP kinase activity GO:0043406 9.73 PDGFRB KITLG KIT FGFR1
14 platelet-derived growth factor receptor signaling pathway GO:0048008 9.72 PDGFRB PDGFRA JAK2
15 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.71 PDGFRB PDGFRA KIT
16 JAK-STAT cascade GO:0007259 9.7 STAT5B STAT5A JAK2
17 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.65 PDGFRB JAK2
18 interleukin-15-mediated signaling pathway GO:0035723 9.65 STAT5B STAT5A
19 peptidyl-tyrosine phosphorylation GO:0018108 9.65 PDGFRB PDGFRA KIT JAK2 FGFR1
20 cardiac myofibril assembly GO:0055003 9.63 PDGFRB PDGFRA
21 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.63 STAT5B STAT5A JAK2
22 interleukin-9-mediated signaling pathway GO:0038113 9.62 STAT5B STAT5A
23 retina vasculature development in camera-type eye GO:0061298 9.62 PDGFRB PDGFRA
24 luteinization GO:0001553 9.61 STAT5B PDGFRA
25 ectopic germ cell programmed cell death GO:0035234 9.6 KITLG KIT
26 taurine metabolic process GO:0019530 9.59 STAT5B STAT5A
27 metanephric glomerular capillary formation GO:0072277 9.57 PDGFRB PDGFRA
28 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.56 PDGFRB PDGFRA
29 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.55 PDGFRB PDGFRA KIT JAK2 FGFR1
30 interleukin-2-mediated signaling pathway GO:0038110 9.54 STAT5B STAT5A IL2RA
31 MAPK cascade GO:0000165 9.5 PDGFRB PDGFRA KITLG KIT JAK2 IL2RA
32 positive regulation of phospholipase C activity GO:0010863 8.92 PDGFRB PDGFRA KIT FGFR1

Molecular functions related to Systemic Mastocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.35 TPSAB1 TNFRSF8 TET2 STAT5B STAT5A SRSF2
2 protein kinase activity GO:0004672 9.72 PDGFRB PDGFRA KIT JAK2 FGFR1
3 platelet-derived growth factor receptor binding GO:0005161 9.4 PDGFRB PDGFRA
4 platelet-derived growth factor binding GO:0048407 9.26 PDGFRB PDGFRA
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 PDGFRB PDGFRA KIT FGFR1
6 vascular endothelial growth factor binding GO:0038085 9.16 PDGFRB PDGFRA
7 protein tyrosine kinase activity GO:0004713 9.02 PDGFRB PDGFRA KIT JAK2 FGFR1
Sources

Sources for Systemic Mastocytosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....