SMCD
MCID: SYS004
MIFTS: 58

Systemic Mastocytosis (SMCD)

Categories: Blood diseases, Cancer diseases, Immune diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Systemic Mastocytosis

MalaCards integrated aliases for Systemic Mastocytosis:

Name: Systemic Mastocytosis 11 19 42 58 75 14 36 33
Systemic Mast Cell Disease 19 42 28 5
Systemic Tissue Mast Cell Disease 11 42 33
Mastocytosis, Systemic 42 43 71
Corneal Dystrophy, Subepithelial Mucinous 71
Smcd - [systemic Mast Cell Disease] 33
Smcd - Systemic Mast Cell Disease 11
Mast Cell Disease, Systemic 42
Systemic Mast-Cell Disease 42
Systemic Mastocytoses 42
Mastocytosis Systemic 53
Smcd 19

Characteristics:


Prevelance:

1-9/1000000 (Italy, Denmark, Europe) 1-5/10000 (Worldwide, Netherlands, Europe) 1-9/100000 (Denmark) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:349
MeSH 43 D034721
NCIt 49 C9235
SNOMED-CT 68 123310005
MESH via Orphanet 44 D034721
ICD10 via Orphanet 32 C96.2
UMLS via Orphanet 72 C0221013
Orphanet 58 ORPHA2467
UMLS 71 C0221013 C2748503

Summaries for Systemic Mastocytosis

MedlinePlus Genetics: 42 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 systemic mast cell disease, is related to systemic mastocytosis with associated hematologic neoplasm and indolent systemic mastocytosis. 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 Protein Kinase Inhibitors and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and spleen, and related phenotypes are Decreased viability and Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)

GARD: 19 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. Symptoms vary based on which parts of the body are affected. SM is usually caused by somatic changes in the KIT gene and are therefore not inherited. Familial cases rarely have been reported.

Orphanet: 58 A heterogeneous group of rare, acquired and chronic hematological malignancies related to an abnormal accumulation/proliferation of neoplastic mast cells (MCs) in one or several organs, mainly the bone marrow (BM), associated frequently with skin involvement.

Wikipedia: 75 Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused... more...

Related Diseases for Systemic Mastocytosis

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 431)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis with associated hematologic neoplasm 33.1 TET2 KIT
2 indolent systemic mastocytosis 32.5 U2AF1 PDGFRA KITLG KIT FIP1L1
3 mast-cell leukemia 32.1 U2AF1 KLRG1 KITLG KIT
4 sm-ahnmd 32.0 U2AF1 TET2 PDGFRA KITLG KIT JAK2
5 aggressive systemic mastocytosis 31.8 U2AF1 TET2 PDGFRB PDGFRA KITLG KIT
6 mastocytosis, cutaneous 31.7 U2AF1 TPSAB1 TET2 PDGFRA KITLG KIT
7 extracutaneous mastocytoma 31.6 U2AF1 TET2 KITLG KIT FIP1L1
8 mastocytosis 30.7 TPSAB1 TET2 STAT5A PDGFRB PDGFRA KLRG1
9 mast cell neoplasm 30.7 U2AF1 KITLG KIT HDC
10 thrombocytosis 30.6 U2AF1 TET2 KITLG JAK2
11 mast-cell sarcoma 30.6 U2AF1 KITLG KIT FIP1L1
12 leukemia 30.6 U2AF1 PTPN11 PDGFRB KIT JAK2 FGFR1
13 acute leukemia 30.6 STAT5A KITLG KIT JAK2
14 neutropenia 30.5 STAT5A PTPN11 KITLG JAK2 IFNA2
15 hypereosinophilic syndrome 30.5 PDGFRB PDGFRA KIT JAK2 IL2RA IFNA2
16 core binding factor acute myeloid leukemia 30.4 U2AF1 TET2 KIT
17 myeloid leukemia 30.4 U2AF1 TET2 PTPN11 PDGFRB PDGFRA KITLG
18 thrombocytopenia 30.3 U2AF1 PTPN11 PDGFRA KITLG KIT JAK2
19 polycythemia 30.3 TET2 STAT5A KITLG JAK2
20 hypereosinophilic syndrome, idiopathic 30.2 PDGFRB PDGFRA KIT FIP1L1
21 myeloma, multiple 30.2 U2AF1 TET2 STAT5A PTPN11 KITLG JAK2
22 dysgerminoma 30.2 KITLG KIT IL2RA
23 refractory anemia with excess blasts 30.2 U2AF1 TET2
24 hypersplenism 30.2 U2AF1 PIK3R1 IL2RA
25 dysgerminoma of ovary 30.1 KITLG KIT
26 myeloproliferative neoplasm 30.1 U2AF1 TET2 STAT5A PTPN11 PDGFRB PDGFRA
27 myeloproliferative disorder, chronic, with eosinophilia 30.1 PDGFRB FIP1L1
28 angiosarcoma 30.1 PDGFRB PDGFRA KIT
29 leukemia, acute myeloid 30.1 U2AF1 TET2 STAT5A PTPN11 PDGFRB PDGFRA
30 essential thrombocythemia 30.1 U2AF1 TET2 STAT5A KITLG KIT JAK2
31 neurofibroma 30.0 PDGFRB PDGFRA KITLG KIT
32 deficiency anemia 30.0 U2AF1 KITLG KIT JAK2 IFNA2 CBL
33 acquired von willebrand syndrome 30.0 U2AF1 JAK2
34 myelofibrosis 30.0 U2AF1 TET2 STAT5A PDGFRB KIT JAK2
35 leukemia, acute lymphoblastic 30.0 U2AF1 PTPN11 KITLG KIT JAK2
36 neurofibromatosis, type i 30.0 PTPN11 PDGFRA KITLG KIT
37 neurofibromatosis 30.0 PTPN11 PDGFRA KITLG KIT
38 gastrointestinal stromal tumor 30.0 U2AF1 PDGFRB PDGFRA KITLG KIT JAK2
39 b-lymphoblastic leukemia/lymphoma 30.0 U2AF1 KITLG KIT
40 lymphopenia 30.0 STAT5A RAC2 PIK3CD IL2RA
41 chronic eosinophilic leukemia 29.9 U2AF1 TET2 STAT5A PDGFRB PDGFRA KIT
42 hematologic cancer 29.9 U2AF1 STAT5A PTPN11 PDGFRB KITLG KIT
43 chronic myelomonocytic leukemia 29.9 U2AF1 TET2 STAT5A PTPN11 PDGFRB PDGFRA
44 budd-chiari syndrome 29.8 U2AF1 PDGFRA JAK2 FIP1L1
45 lymphoma 29.7 TET2 STAT5A PTPN11 IL2RA FGFR1 CBL
46 hairy cell leukemia 29.7 U2AF1 IL2RA IFNA2
47 myelodysplastic syndrome 29.7 U2AF1 TET2 STAT5A PTPN11 PDGFRB PDGFRA
48 leukemia, chronic lymphocytic 29.7 U2AF1 TET2 STAT5A PTPN11 PIK3CD KIT
49 myelodysplastic/myeloproliferative neoplasm 29.6 U2AF1 TET2 STAT5A PTPN11 PDGFRB PDGFRA
50 atypical chronic myeloid leukemia, bcr-abl1 negative 29.6 U2AF1 TET2 PDGFRB PDGFRA JAK2 FGFR1

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



Diseases related to Systemic Mastocytosis

Symptoms & Phenotypes for Systemic Mastocytosis

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

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.42 CBL
2 Decreased viability GR00055-A-2 10.42 CBL
3 Decreased viability GR00173-A 10.42 PDGFRA
4 Decreased viability GR00221-A-1 10.42 PDGFRA PDGFRB PIK3CD PIK3R1 FGFR1 KIT
5 Decreased viability GR00221-A-2 10.42 CBL FGFR1
6 Decreased viability GR00221-A-3 10.42 CBL PDGFRA PDGFRB PIK3CD PIK3R1
7 Decreased viability GR00221-A-4 10.42 PDGFRA PDGFRB
8 Decreased viability GR00249-S 10.42 PDGFRA
9 Decreased viability GR00301-A 10.42 KIT
10 Decreased viability GR00342-S-1 10.42 PDGFRB
11 Decreased viability GR00386-A-1 10.42 FGFR1
12 Decreased viability GR00402-S-2 10.42 PDGFRA
13 no effect GR00402-S-1 10.19 CBL FGFR1 FIP1L1 HDC IFNA2 IL2RA
14 no effect GR00402-S-2 10.19 CBL FGFR1 FIP1L1 HDC IFNA2 JAK2
15 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.26 IL2RA PDGFRB PIK3R1 PTPN11

MGI Mouse Phenotypes related to Systemic Mastocytosis:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.4 CBL FGFR1 HDC IL2RA JAK2 KIT
2 normal MP:0002873 10.31 FGFR1 IFNA2 JAK2 KIT KLRG1 PDGFRA
3 growth/size/body region MP:0005378 10.31 CBL FGFR1 HDC IL2RA JAK2 KIT
4 endocrine/exocrine gland MP:0005379 10.29 CBL FGFR1 IL2RA JAK2 KIT KITLG
5 immune system MP:0005387 10.28 CBL FGFR1 HDC IFNA2 IL2RA JAK2
6 cellular MP:0005384 10.25 CBL FGFR1 JAK2 KIT KITLG PDGFRA
7 cardiovascular system MP:0005385 10.21 CBL FGFR1 IL2RA JAK2 KIT KITLG
8 liver/biliary system MP:0005370 10.2 CBL JAK2 KIT KITLG PIK3R1 PTPN11
9 neoplasm MP:0002006 10.18 JAK2 KIT KITLG PDGFRA PIK3R1 PTPN11
10 hematopoietic system MP:0005397 10.11 CBL FGFR1 HDC IFNA2 IL2RA JAK2
11 no phenotypic analysis MP:0003012 10.1 FGFR1 HDC KIT PDGFRA PIK3CD PTPN11
12 limbs/digits/tail MP:0005371 10.08 CBL FGFR1 KIT KITLG PDGFRA PDGFRB
13 pigmentation MP:0001186 10.06 CBL KIT KITLG PDGFRA PTPN11 U2AF1
14 digestive/alimentary MP:0005381 10.06 FGFR1 IL2RA KIT KITLG PDGFRA PDGFRB
15 skeleton MP:0005390 10 CBL FGFR1 IL2RA JAK2 KIT KITLG
16 hearing/vestibular/ear MP:0005377 9.99 CBL FGFR1 KIT KITLG PTPN11 U2AF1
17 craniofacial MP:0005382 9.98 CBL FGFR1 KIT KITLG PDGFRA PDGFRB
18 mortality/aging MP:0010768 9.8 CBL FGFR1 IL2RA JAK2 KIT KITLG
19 integument MP:0010771 9.4 CBL FGFR1 HDC JAK2 KIT KITLG

Drugs & Therapeutics for Systemic Mastocytosis

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

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protein Kinase Inhibitors Phase 4
2
Imatinib Mesylate Phase 4 220127-57-1
3
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
4
Denosumab Approved Phase 3 615258-40-7
5
Hydroxychloroquine Approved Phase 2, Phase 3 118-42-3 3652
6 2-chloro-3'-deoxyadenosine Phase 3 14485373
7 interferons Phase 3
8 Interferon-alpha Phase 3
9
Cromolyn Sodium Phase 3
10 Leukotriene Antagonists Phase 3
11 Proton Pump Inhibitors Phase 3
12 Antidepressive Agents Phase 3
13 Histamine H1 Antagonists Phase 3
14 Histamine Antagonists Phase 3
15 Pharmaceutical Solutions Phase 3
16 Antirheumatic Agents Phase 2, Phase 3
17 Anti-Infective Agents Phase 2, Phase 3
18 Antiprotozoal Agents Phase 2, Phase 3
19 Antiparasitic Agents Phase 2, Phase 3
20 Antimalarials Phase 2, Phase 3
21
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
22
Brentuximab vedotin Approved, Investigational Phase 2 914088-09-8
23
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
24
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
25
Midostaurin Approved, Investigational Phase 2 120685-11-2 9829523
26
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
27
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
28
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
29
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
30
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 2 133585-56-5, 60-18-4, 556-02-5 1153 6057
31
Obatoclax Investigational Phase 2 803712-67-6 46930997
32 Immunoconjugates Phase 2
33 Antineoplastic Agents, Immunological Phase 2
34 Immunologic Factors Phase 2
35 Immunosuppressive Agents Phase 2
36 Interleukin-2 Phase 2
37 Anti-Bacterial Agents Phase 2
38 Angiogenesis Inhibitors Phase 2
39 Antigen-Antibody Complex Phase 2
40 Antimetabolites Phase 1, Phase 2
41
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3 3680
42
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 3003 5743
43
Acetaminophen Approved Phase 1 103-90-2 1983
44
Ichthammol Approved Phase 1 8029-68-3
45
Ibuprofen Approved Phase 1 15687-27-1 3672
46
Ranitidine Approved, Withdrawn Phase 1 66357-59-3, 82530-72-1, 66357-35-5 3001055 5039
47
Histamine Approved, Investigational Phase 1 51-45-6 774
48
Diphenhydramine Approved, Investigational Phase 1 147-24-0, 58-73-1 3100
49
Promethazine Approved, Investigational Phase 1 60-87-7 4927
50 Analgesics Phase 1

Interventional clinical trials:

(show all 44)
# 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 A Randomized, Double-Blind, Placebo-Controlled Phase 2/3 Study of BLU-263 in Indolent Systemic Mastocytosis Recruiting NCT04910685 Phase 2, Phase 3 BLU-263;Placebo
6 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Active, not recruiting NCT03401060 Phase 3 Denosumab;Placebo
7 Hydroxychloroquine in Isolated Cutaneous Mastocytosis Patients or Indolent Systemic Mastocytosis With Associated Skin Involvement Patients: Proof of Concept Study Not yet recruiting NCT05084872 Phase 2, Phase 3 Hydroxychloroquine
8 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,
9 Multicenter, Open-Label, Single Arm Phase II Clinical Trial of Dasatinib in the Treatment of Systemic Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
10 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
11 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
12 Evaluation of RAD001 as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
13 ONTAK (Denileukin Diftitox) in Patients With Systemic Mastocytosis Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
14 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
15 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
16 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
17 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)
18 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
19 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Systemic Mastocytosis Completed NCT00006413 Phase 2
20 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
21 A Phase 2 Open-Label, Multicenter Clinical Study of the Safety, Efficacy, Pharmacokinetic, and Pharmacodynamic Profiles of CGT9486 as a Single Agent in Patients With Advanced Systemic Mastocytosis Recruiting NCT04996875 Phase 2 CGT9486 tablets
22 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
23 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
24 A Multi-Part, Randomized, Double-Blind, Placebo-Controlled Phase 2 Clinical Study of The Safety and Efficacy of CGT9486 in Subjects With Nonadvanced Systemic Mastocytosis Recruiting NCT05186753 Phase 2 CGT9486 Tablets;Placebo Tablets
25 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
26 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 Active, not recruiting NCT03731260 Phase 2 Avapritinib;Placebo
27 A Phase 1/2, Open-label, 2-arm Study Evaluating BLU-263 as Monotherapy and in Combination With Azacitidine, in Patients With KIT Altered Hematologic Malignancies Not yet recruiting NCT05609942 Phase 1, Phase 2 BLU-263;Azacitidine
28 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
29 Evaluation of Obatoclax Mesylate as Therapy for Patients With Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
30 GTB-3550 (CD16/IL-15/CD33)Tri-Specific Killer Engager (TriKE®) for the Treatment of High Risk Myelodysplastic Syndromes, Refractory/Relapsed Acute Myeloid Leukemia and Advanced Systemic Mastocytosis Terminated NCT03214666 Phase 1, Phase 2 GTB-3550 TriKE® Phase I;GTB-3550 TriKE® Phase II
31 A Phase 2 Study to Evaluate the Anti-Tumor Activity of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Withdrawn NCT03739606 Phase 2
32 A Multicenter Phase 1, Open-Label Study of DCC-2618 to Assess Safety, Tolerability, Efficacy, and Pharmacokinetics in Patients With Advanced Malignancies Completed NCT02571036 Phase 1 DCC-2618
33 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
34 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
35 A Phase 1, First-in-Human, Dose Escalation Study of MGD024, a CD123 x CD3 Bispecific DART Molecule, in Patients With Select Relapsed or Refractory Hematologic Malignancies Recruiting NCT05362773 Phase 1 MGD024
36 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
37 An External Control, Observational, Retrospective Study Assessing the Effect of Avapritinib Compared With Best Available Therapy for Patients With Advanced Systemic Mastocytosis Completed NCT04695431
38 Patient-Reported Outcome Questionnaire Development for Symptoms of Systemic Mastocytosis Completed NCT02380222
39 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Completed NCT03632811
40 Evaluation of the Diagnostic Value of Level of Bone Marrow Tryptase in Adult Systemic Mastocytosis Completed NCT02441166
41 Treatment of Systemic Mastocytosis With Tamoxifen Completed NCT01334996
42 Determination of Cytokine Production Patterns in the Skin of Patients With Systemic Mastocytosis and Atopic Dermatitis Using the Suction Blister Technique Completed NCT00001760
43 Expanded Access Program (EAP) for Avapritinib Available NCT04714086 Avapritinib
44 A Retrospective and Prospective Multicenter Observational Study for the Evaluation of Incidence of Systemic Mastocytosis With Associated t(8;21) Acute Myeloid Leukemia in t(8;21) Acute Myeloid Leukemia Not yet recruiting NCT05504408

Search NIH Clinical Center for Systemic Mastocytosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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

Genetic Tests for Systemic Mastocytosis

Genetic tests related to Systemic Mastocytosis:

# Genetic test Affiliating Genes
1 Systemic Mast Cell Disease 28

Anatomical Context for Systemic Mastocytosis

Organs/tissues related to Systemic Mastocytosis:

MalaCards : Bone Marrow, Bone, Spleen, Skin, Liver, Myeloid, Lymph Node

Publications for Systemic Mastocytosis

Articles related to Systemic Mastocytosis:

(show top 50) (show all 2142)
# Title Authors PMID Year
1
Phase II study of dasatinib in Philadelphia chromosome-negative acute and chronic myeloid diseases, including systemic mastocytosis. 62 5
18559612 2008
2
Systemic mastocytosis in adults: a review on prognosis and treatment based on 342 Mayo Clinic patients and current literature. 53 62
20075725 2010
3
Phospho-STAT5 and phospho-Akt expression in chronic myeloproliferative neoplasms. 53 62
19747364 2009
4
Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. 53 62
19541349 2009
5
Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia. 53 62
19669220 2009
6
The c-Kit/D816V mutation eliminates the differences in signal transduction and biological responses between two isoforms of c-Kit. 53 62
19049823 2009
7
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. 53 62
19175693 2009
8
Utility of the World Heath Organization classification criteria for the diagnosis of systemic mastocytosis in bone marrow. 53 62
19116630 2009
9
Oncogenic signals as treatment targets in classic myeloproliferative neoplasms. 53 62
19147089 2009
10
Mast cells and mastocytosis. 53 62
20203509 2009
11
Pharmacological targeting of the KIT growth factor receptor: a therapeutic consideration for mast cell disorders. 53 62
18500355 2008
12
The identification and characterisation of novel KIT transcripts in aggressive mast cell malignancies and normal CD34+ cells. 53 62
18766971 2008
13
Systemic mastocytosis with associated myeloproliferative disease and precursor B lymphoblastic leukaemia with t(13;13)(q12;q22) involving FLT3. 53 62
18663058 2008
14
Phase II, open-label study evaluating the activity of imatinib in treating life-threatening malignancies known to be associated with imatinib-sensitive tyrosine kinases. 53 62
18451237 2008
15
Unique effects of KIT D816V in BaF3 cells: induction of cluster formation, histamine synthesis, and early mast cell differentiation antigens. 53 62
18390729 2008
16
KIT and mastocytosis. 53 62
18566536 2008
17
The origin of neoplastic mast cells in systemic mastocytosis with AML1/ETO-positive acute myeloid leukemia. 53 62
17976525 2007
18
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. 53 62
17483298 2007
19
Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. 53 62
17551405 2007
20
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 53 62
17259998 2007
21
Sensitive detection of KIT D816V in patients with mastocytosis. 53 62
17040960 2006
22
Effects of AMN107, a novel aminopyrimidine tyrosine kinase inhibitor, on human mast cells bearing wild-type or mutated codon 816 c-kit. 53 62
16797704 2006
23
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. 53 62
16741248 2006
24
Immunohistochemical detection of histidine decarboxylase in neoplastic mast cells in patients with systemic mastocytosis. 53 62
16564918 2006
25
Atypical myeloproliferative disorders: diagnosis and management. 53 62
16610578 2006
26
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. 53 62
16189265 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. 53 62
16397263 2006
28
[Isolated lymphadenopathy as the first presentation of systemic mastocytosis--description of two cases]. 53 62
16506600 2006
29
Clonality and molecular pathogenesis of mastocytosis. 53 62
15995326 2005
30
Modern diagnosis and treatment of primary eosinophilia. 53 62
15995325 2005
31
Imatinib therapy for hypereosinophilic syndrome and eosinophilia-associated myeloproliferative disorders. 53 62
15036941 2004
32
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. 53 62
14687620 2004
33
Use of interferon alpha-2b and prednisolone in the treatment of severe intractable diarrhea in a child with systemic mastocytosis. 53 62
14651557 2003
34
Signal transduction by several KIT juxtamembrane domain mutations. 53 62
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. 53 62
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. 53 62
12688351 2003
37
An immunohistochemical study of the bone marrow lesions of systemic mastocytosis: expression of stem cell factor by lesional mast cells. 53 62
12162685 2002
38
Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. 53 62
11380399 2001
39
Immunohistochemical properties of bone marrow mast cells in systemic mastocytosis: evidence for expression of CD2, CD117/Kit, and bcl-x(L). 53 62
11381374 2001
40
Effects of mutant c-kit in early myeloid cells. 53 62
10721793 2000
41
Utility of paraffin section immunohistochemistry for C-KIT (CD117) in the differential diagnosis of systemic mast cell disease involving the bone marrow. 53 62
10632491 2000
42
Immunophenotype of bone marrow mast cells in indolent systemic mast cell disease in adults. 53 62
10706445 1999
43
Effects of mutant c-Kit in early myeloid cells. 53 62
10492068 1999
44
Multilineage involvement and erythropoietin-"independent" erythroid progenitor cells in a patient with systemic mastocytosis. 53 62
9829852 1998
45
Response of severe systemic mastocytosis to interferon alpha. 53 62
9580806 1998
46
Clinical stable systemic mastocytosis with interferon alpha-2b therapy. 53 62
10497631 1997
47
Chronically KIT-stimulated clonally-derived human mast cells show heterogeneity in different tissue microenvironments. 53 62
9129234 1997
48
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. 53 62
8876560 1996
49
Severe osteoporosis due to systemic mast cell disease: successful treatment with interferon alpha-2B. 53 62
8810675 1996
50
Treatment of three patients with systemic mastocytosis with interferon alpha-2b. 53 62
8882964 1996

Variations for Systemic Mastocytosis

ClinVar genetic disease variations for Systemic Mastocytosis:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIT NM_000222.3(KIT):c.2459A>T (p.Asp820Val) SNV Likely Pathogenic
376148 rs121913682 GRCh37: 4:55599333-55599333
GRCh38: 4:54733167-54733167
2 KIT NM_000222.3(KIT):c.2872A>G (p.Asn958Asp) SNV Uncertain Significance
592102 rs1560426461 GRCh37: 4:55604664-55604664
GRCh38: 4:54738498-54738498

Expression for Systemic Mastocytosis

Search GEO for disease gene expression data for Systemic Mastocytosis.

Pathways for Systemic Mastocytosis

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

(show top 50) (show all 123)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.05 STAT5A RAC2 PTPN11 PIK3R1 PIK3CD KLRG1
2
Show member pathways
13.92 CBL FGFR1 IL2RA JAK2 KIT KITLG
3 13.82 STAT5A RAC2 PTPN11 PIK3R1 PIK3CD PDGFRB
4
Show member pathways
13.81 CBL FGFR1 FIP1L1 IFNA2 JAK2 KIT
5
Show member pathways
13.79 STAT5A RAC2 PIK3R1 PDGFRB PDGFRA KITLG
6
Show member pathways
13.71 FGFR1 IFNA2 IL2RA JAK2 KIT PDGFRA
7
Show member pathways
13.56 CBL FGFR1 IL2RA JAK2 PDGFRA PDGFRB
8
Show member pathways
13.49 STAT5A RAC2 PIK3R1 PDGFRB PDGFRA KITLG
9
Show member pathways
13.41 RAC2 PIK3R1 PDGFRB PDGFRA KITLG KIT
10
Show member pathways
13.41 CBL IFNA2 IL2RA JAK2 PIK3CD PIK3R1
11
Show member pathways
13.37 RAC2 PTPN11 PIK3R1 PDGFRB PDGFRA KITLG
12
Show member pathways
13.36 PIK3R1 PDGFRB PDGFRA KITLG KIT FGFR1
13
Show member pathways
13.34 CBL FGFR1 IFNA2 IL2RA JAK2 KIT
14
Show member pathways
13.17 RAC2 PIK3R1 PDGFRB PDGFRA KITLG KIT
15
Show member pathways
13.15 FGFR1 KIT KITLG PDGFRA PDGFRB PIK3CD
16
Show member pathways
13.12 FGFR1 IL2RA JAK2 KIT KITLG PDGFRA
17
Show member pathways
13.02 RAC2 PDGFRB PDGFRA KIT FGFR1
18
Show member pathways
13.01 STAT5A RAC2 PIK3R1 PDGFRB PDGFRA JAK2
19
Show member pathways
12.99 CBL JAK2 PIK3CD PIK3R1 RAC2 STAT5A
20
Show member pathways
12.98 RAC2 PIK3R1 PIK3CD PDGFRB PDGFRA JAK2
21
Show member pathways
12.97 CBL IL2RA JAK2 PIK3CD PIK3R1 PTPN11
22
Show member pathways
12.96 FGFR1 IFNA2 IL2RA JAK2 KIT KITLG
23
Show member pathways
12.94 STAT5A PIK3R1 PIK3CD JAK2 IL2RA IFNA2
24
Show member pathways
12.92 JAK2 PIK3CD PIK3R1 RAC2 STAT5A
25
Show member pathways
12.91 PIK3R1 PIK3CD PDGFRB PDGFRA KITLG KIT
26
Show member pathways
12.83 PTPN11 PIK3R1 PIK3CD JAK2 CBL
27 12.81 PIK3CD PDGFRB PDGFRA KITLG KIT FGFR1
28
Show member pathways
12.81 CBL FGFR1 KIT PIK3CD PIK3R1 RAC2
29 12.79 CBL FGFR1 JAK2 KIT KITLG PDGFRA
30
Show member pathways
12.75 STAT5A PTPN11 PIK3R1 JAK2 CBL
31 12.69 CBL IL2RA JAK2 KIT KITLG STAT5A
32
Show member pathways
12.69 STAT5A PTPN11 PIK3R1 PIK3CD PDGFRB PDGFRA
33
Show member pathways
12.69 RAC2 PTPN11 PIK3R1 PIK3CD PDGFRB PDGFRA
34
Show member pathways
12.62 RAC2 PTPN11 PIK3R1 PIK3CD CBL
35
Show member pathways
12.59 STAT5A RAC2 PTPN11 PIK3R1 PIK3CD PDGFRB
36
Show member pathways
12.57 CBL JAK2 PIK3CD PIK3R1
37
Show member pathways
12.56 FGFR1 IL2RA PDGFRA PDGFRB PIK3CD PIK3R1
38
Show member pathways
12.54 PTPN11 PIK3R1 PIK3CD PDGFRB PDGFRA KIT
39
Show member pathways
12.52 STAT5A PTPN11 PIK3R1 PIK3CD
40
Show member pathways
12.52 PTPN11 PIK3R1 PIK3CD JAK2 CBL
41
Show member pathways
12.52 STAT5A PTPN11 PIK3R1 PIK3CD FGFR1 CBL
42
Show member pathways
12.48 PTPN11 PIK3R1 PIK3CD JAK2
43
Show member pathways
12.44 CBL FGFR1 JAK2 PIK3CD PIK3R1 PTPN11
44
Show member pathways
12.43 CBL FGFR1 KIT KITLG PDGFRA PDGFRB
45
Show member pathways
12.42 PTPN11 PIK3R1 PIK3CD CBL
46
Show member pathways
12.41 PIK3R1 PIK3CD PDGFRB PDGFRA
47 12.41 PDGFRA PDGFRB PIK3CD PIK3R1 RAC2
48
Show member pathways
12.4 RAC2 PTPN11 PIK3R1 CBL
49
Show member pathways
12.38 STAT5A PTPN11 PIK3R1 PDGFRB JAK2 CBL
50
Show member pathways
12.35 CBL FGFR1 PIK3R1 PTPN11

GO Terms for Systemic Mastocytosis

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.54 STAT5A RAC2 PTPN11 PIK3R1 PIK3CD PDGFRB
2 positive regulation of cell population proliferation GO:0008284 10.35 PDGFRB PDGFRA KITLG KIT JAK2 FGFR1
3 positive regulation of cell migration GO:0030335 10.33 PIK3CD PDGFRB PDGFRA KIT JAK2
4 protein phosphorylation GO:0006468 10.31 PIK3R1 PIK3CD PDGFRB PDGFRA KIT JAK2
5 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.24 FGFR1 KIT PDGFRA PDGFRB
6 protein autophosphorylation GO:0046777 10.24 PDGFRB PDGFRA KIT JAK2 FGFR1
7 male gonad development GO:0008584 10.22 PDGFRB KITLG KIT CBL
8 B cell differentiation GO:0030183 10.16 PIK3R1 PIK3CD KIT IFNA2
9 cytokine-mediated signaling pathway GO:0019221 10.15 STAT5A PTPN11 KIT JAK2 IFNA2 CBL
10 positive regulation of MAP kinase activity GO:0043406 10.13 PDGFRB KITLG KIT FGFR1
11 T cell differentiation GO:0030217 10.12 PIK3R1 PIK3CD KIT
12 positive regulation of kinase activity GO:0033674 10.11 PDGFRB PDGFRA KIT FGFR1
13 peptidyl-tyrosine phosphorylation GO:0018108 10.1 PDGFRB PDGFRA KITLG KIT JAK2 FGFR1
14 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 10.09 PDGFRB PDGFRA KIT
15 positive regulation of MAPK cascade GO:0043410 10.08 PDGFRB PDGFRA KIT JAK2 FGFR1
16 phosphorylation GO:0016310 10.06 PIK3R1 PIK3CD PDGFRB PDGFRA KIT JAK2
17 response to organic cyclic compound GO:0014070 10.05 TET2 PDGFRB KITLG JAK2
18 phosphatidylinositol-mediated signaling GO:0048015 10.03 PIK3CD PDGFRB PDGFRA FGFR1
19 mast cell degranulation GO:0043303 10.02 CBL KIT PIK3CD
20 platelet-derived growth factor receptor signaling pathway GO:0048008 10.01 JAK2 PDGFRA PDGFRB PTPN11
21 chemotaxis GO:0006935 9.95 RAC2 PIK3CD PDGFRB PDGFRA
22 mast cell chemotaxis GO:0002551 9.92 KIT PIK3CD
23 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.91 PDGFRA PDGFRB
24 mast cell differentiation GO:0060374 9.9 KIT PIK3CD
25 metanephric glomerular capillary formation GO:0072277 9.89 PDGFRA PDGFRB
26 melanocyte migration GO:0097324 9.88 KIT KITLG
27 multicellular organism development GO:0007275 9.8 FGFR1 KIT PDGFRA PDGFRB
28 mast cell proliferation GO:0070662 9.73 KIT KITLG RAC2
29 positive regulation of protein modification process GO:0031401 9.65 PDGFRB KIT
30 positive regulation of mast cell proliferation GO:0070668 9.63 KIT KITLG RAC2
31 positive regulation of phospholipase C activity GO:0010863 9.56 PDGFRB PDGFRA KIT FGFR1
32 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.4 PDGFRB PDGFRA KIT JAK2 FGFR1 CBL

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

# Name GO ID Score Top Affiliating Genes
1 phosphotyrosine residue binding GO:0001784 9.85 PTPN11 PIK3R1 CBL
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.76 FGFR1 KIT PDGFRA PDGFRB
3 phosphatidylinositol 3-kinase binding GO:0043548 9.73 PIK3R1 PDGFRB JAK2
4 vascular endothelial growth factor binding GO:0038085 9.62 PDGFRB PDGFRA
5 protein tyrosine kinase activity GO:0004713 9.61 PDGFRB PDGFRA KIT JAK2 FGFR1
6 kinase activity GO:0016301 9.23 PIK3R1 PIK3CD PDGFRB PDGFRA KIT JAK2

Sources for Systemic Mastocytosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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