SMCD
MCID: SYS004
MIFTS: 67

Systemic Mastocytosis (SMCD)

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Systemic Mastocytosis

MalaCards integrated aliases for Systemic Mastocytosis:

Name: Systemic Mastocytosis 38 12 76 53 25 29 15
Mast Cell Disease, Systemic 25 29 6
Mastocytosis, Systemic 25 44 73
Systemic Tissue Mast Cell Disease 12 25
Systemic Mast Cell Disease 53 25
Corneal Dystrophy, Subepithelial Mucinous 73
Smcd - Systemic Mast Cell Disease 12
Systemic Mast-Cell Disease 25
Systemic Mastocytoses 25
Mastocytosis Systemic 55
Smcd 53

Classifications:



Summaries for Systemic Mastocytosis

NIH Rare Diseases : 53 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.

MalaCards based summary : Systemic Mastocytosis, also known as mast cell disease, systemic, is related to aggressive systemic mastocytosis 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 PEDF Induced Signaling and Developmental Biology. The drugs Protein Kinase Inhibitors and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are sudden cardiac death and nausea and vomiting

Genetics Home Reference : 25 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.

Wikipedia : 76 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 177)
# Related Disease Score Top Affiliating Genes
1 aggressive systemic mastocytosis 33.8 IFNA2 KIT KITLG
2 indolent systemic mastocytosis 33.1 CD2 HDC KIT KITLG TPSAB1
3 sm-ahnmd 31.9 ASXL1 CD2 FIP1L1 KIT PDGFRA TET2
4 corneal dystrophy, subepithelial mucinous 31.7 FIP1L1 PDGFRA PDGFRB
5 mastocytosis 30.9 CD2 FIP1L1 HDC IFNA2 KIT KITLG
6 mast-cell leukemia 30.6 KIT KITLG
7 leukemia, acute myeloid 30.2 ASXL1 CD2 JAK2 KIT KITLG TET2
8 splenomegaly 30.1 IFNA2 JAK2
9 chronic myelomonocytic leukemia 30.1 ASXL1 JAK2 KIT PDGFRB TET2
10 mastocytosis, cutaneous 30.1 CD2 FIP1L1 KIT KITLG
11 myelofibrosis 30.0 ASXL1 IFNA2 JAK2 KIT TET2
12 polycythemia 29.8 JAK2 KITLG TET2
13 core binding factor acute myeloid leukemia 29.7 JAK2 KIT
14 pdgfra-associated chronic eosinophilic leukemia 29.7 FIP1L1 PDGFRA
15 essential thrombocythemia 29.6 ASXL1 IFNA2 JAK2 TET2
16 gastrointestinal stromal tumor 29.5 KIT KITLG PDGFRA PDGFRB
17 chronic eosinophilic leukemia 29.5 FGFR1 FIP1L1 KIT PDGFRA PDGFRB
18 hypereosinophilic syndrome 29.4 FGFR1 FIP1L1 KIT PDGFRA PDGFRB
19 hypereosinophilic syndrome, idiopathic 29.3 FIP1L1 KIT PDGFRA PDGFRB
20 myelodysplastic syndrome 29.2 ASXL1 JAK2 KIT KITLG PDGFRB TET2
21 polycythemia vera 29.2 JAK2 KIT KITLG PDGFRA PDGFRB TET2
22 myeloproliferative neoplasm 29.0 FGFR1 FIP1L1 JAK2 KIT PDGFRA PDGFRB
23 hematologic cancer 28.8 CD2 FGFR1 JAK2 KIT KITLG PDGFRB
24 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.4
25 smouldering systemic mastocytosis 12.3
26 metaphyseal chondrodysplasia, schmid type 11.7
27 mastocytic enterocolitis 11.1
28 monoclonal mast cell activation syndrome 11.1
29 leukemia 10.6
30 myeloid leukemia 10.4
31 osteoporosis 10.4
32 urticaria 10.3
33 lymphoma 10.3
34 portal hypertension 10.3
35 reticular perineurioma 10.2 KIT PDGFRA
36 pdgfrb-associated chronic eosinophilic leukemia 10.2
37 subacute myeloid leukemia 10.2 JAK2 TET2
38 gastric leiomyosarcoma 10.2 KIT PDGFRA
39 sarcomatoid renal cell carcinoma 10.2 IFNA2 KIT
40 conventional fibrosarcoma 10.2 KIT PDGFRA
41 endometrial small cell carcinoma 10.2 KIT PDGFRA
42 lung adenoid cystic carcinoma 10.2 KIT PDGFRA
43 pulmonary vein stenosis 10.2 KIT PDGFRA
44 carney triad 10.2 KIT PDGFRA
45 mesenchymal cell neoplasm 10.2 KIT PDGFRA
46 undifferentiated pleomorphic sarcoma 10.2 KIT PDGFRA
47 diarrhea 10.1
48 neurofibromatosis, type i 10.1 KIT PDGFRA
49 ewing's family of tumors 10.1 KIT KITLG
50 extracutaneous mastocytoma 10.1 CD2 KIT

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



Diseases related to Systemic Mastocytosis

Symptoms & Phenotypes for Systemic Mastocytosis

Human phenotypes related to Systemic Mastocytosis:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 occasional (7.5%) HP:0001645
2 nausea and vomiting 32 hallmark (90%) HP:0002017
3 splenomegaly 32 occasional (7.5%) HP:0001744
4 hepatomegaly 32 occasional (7.5%) HP:0002240
5 malabsorption 32 hallmark (90%) HP:0002024
6 portal hypertension 32 occasional (7.5%) HP:0001409
7 osteoporosis 32 frequent (33%) HP:0000939
8 arthralgia 32 occasional (7.5%) HP:0002829
9 ascites 32 occasional (7.5%) HP:0001541
10 anemia 32 frequent (33%) HP:0001903
11 bone marrow hypocellularity 32 occasional (7.5%) HP:0005528
12 abdominal pain 32 hallmark (90%) HP:0002027
13 generalized osteosclerosis 32 frequent (33%) HP:0005789
14 cirrhosis 32 occasional (7.5%) HP:0001394
15 thrombocytopenia 32 frequent (33%) HP:0001873
16 myalgia 32 occasional (7.5%) HP:0003326
17 asthma 32 occasional (7.5%) HP:0002099
18 recurrent fractures 32 occasional (7.5%) HP:0002757
19 skin rash 32 frequent (33%) HP:0000988
20 bone pain 32 occasional (7.5%) HP:0002653
21 urticaria 32 hallmark (90%) HP:0001025
22 acute leukemia 32 occasional (7.5%) HP:0002488
23 chronic leukemia 32 occasional (7.5%) HP:0005558
24 abnormality of the gastric mucosa 32 occasional (7.5%) HP:0004295
25 osteolysis 32 occasional (7.5%) HP:0002797
26 headache 32 hallmark (90%) HP:0002315
27 lymphadenopathy 32 occasional (7.5%) HP:0002716
28 mastocytosis 32 hallmark (90%) HP:0100495
29 leukopenia 32 frequent (33%) HP:0001882
30 impaired temperature sensation 32 frequent (33%) HP:0010829
31 abnormal eosinophil morphology 32 hallmark (90%) HP:0001879

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.53 PDGFRA
2 Decreased viability GR00221-A-1 9.53 FGFR1 KIT PDGFRA PDGFRB
3 Decreased viability GR00221-A-2 9.53 FGFR1
4 Decreased viability GR00221-A-3 9.53 PDGFRA PDGFRB
5 Decreased viability GR00221-A-4 9.53 PDGFRA PDGFRB
6 Decreased viability GR00301-A 9.53 KIT
7 Decreased viability GR00342-S-1 9.53 PDGFRB
8 Decreased viability GR00402-S-2 9.53 FGFR1 KIT PDGFRA PDGFRB

MGI Mouse Phenotypes related to Systemic Mastocytosis:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 ASXL1 FGFR1 JAK2 KIT KITLG PDGFRA
2 growth/size/body region MP:0005378 10.09 ASXL1 FGFR1 HDC JAK2 KIT KITLG
3 endocrine/exocrine gland MP:0005379 10.06 ASXL1 FGFR1 JAK2 KIT KITLG PDGFRA
4 hematopoietic system MP:0005397 10.06 ASXL1 FGFR1 HDC JAK2 KIT KITLG
5 immune system MP:0005387 10.02 ASXL1 FGFR1 HDC JAK2 KIT KITLG
6 craniofacial MP:0005382 9.97 ASXL1 FGFR1 KIT KITLG PDGFRA PDGFRB
7 digestive/alimentary MP:0005381 9.95 ASXL1 FGFR1 KIT KITLG PDGFRA PDGFRB
8 integument MP:0010771 9.87 FGFR1 HDC JAK2 KIT KITLG PDGFRA
9 limbs/digits/tail MP:0005371 9.65 FGFR1 KIT KITLG PDGFRA PDGFRB
10 neoplasm MP:0002006 9.63 ASXL1 JAK2 KIT KITLG PDGFRA TET2
11 normal MP:0002873 9.5 CD2 FGFR1 JAK2 KIT PDGFRA PDGFRB
12 skeleton MP:0005390 9.17 ASXL1 FGFR1 JAK2 KIT KITLG PDGFRA

Drugs & Therapeutics for Systemic Mastocytosis

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protein Kinase Inhibitors Phase 4,Phase 2,Phase 1
2 Imatinib Mesylate Phase 4,Phase 1,Phase 2 220127-57-1 123596
3
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
4
Denosumab Approved Phase 3 615258-40-7
5 Immunologic Factors Phase 2, Phase 3
6 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
7 Immunosuppressive Agents Phase 2, Phase 3
8 Bone Density Conservation Agents Phase 3
9 Pharmaceutical Solutions Phase 3
10
Midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
11
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
12
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
13
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
14
Everolimus Approved Phase 2 159351-69-6 6442177
15
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
16
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
17
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
18 Staurosporine Experimental Phase 2 62996-74-1
19 Specific substance maruyama Phase 2
20 Anti-Infective Agents Phase 2
21 Anti-Bacterial Agents Phase 2
22 Antifungal Agents Phase 2
23 Antibiotics, Antitubercular Phase 2
24 Cromolyn Sodium Phase 2
25 Peripheral Nervous System Agents Phase 2
26 Analgesics Phase 2
27 Interleukin-2 Phase 2
28 Analgesics, Non-Narcotic Phase 2
29 Antibodies Phase 2
30 Immunoglobulins Phase 2
31 Antibodies, Monoclonal Phase 2
32 tyrosine Phase 2
33 Angiogenesis Inhibitors Phase 2
34 Angiogenesis Modulating Agents Phase 2
35
Tamoxifen Approved 10540-29-1 2733526
36 Hormones, Hormone Substitutes, and Hormone Antagonists
37 Estrogen Receptor Modulators
38 Estrogens
39 Selective Estrogen Receptor Modulators
40 Antineoplastic Agents, Hormonal
41 Hormone Antagonists
42 Estrogen Receptor Antagonists
43 Estrogen Antagonists
44 Hormones

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 Imatinib in KIT-negative Systemic Mastocytosis Completed NCT01297777 Phase 4 Imatinib Mesylate
2 Cladribine Plus Pegylated Interpheron Alfa-2a in Systemic Mastocytosis Unknown status NCT01602939 Phase 2, Phase 3 Cladribine and pegylated interpheron alpha-2a
3 Masitinib in Severe Indolent or Smoldering Systemic Mastocytosis Completed NCT00814073 Phase 3 Masitinib;Placebo
4 Study on Mastocytosis for Rupatadine Treatment Completed NCT01481909 Phase 2, Phase 3 Rupatadin
5 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Recruiting NCT03401060 Phase 3 Denosumab;Placebo
6 Midostaurin in Indolent Systemic Mastocytosis Unknown status NCT01920204 Phase 2 Midostaurin,
7 Evaluation of Response of Dasatinib to Treat Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
8 Everolimus (RAD001) as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
9 Treatment of Indolent Systemic Mastocytosis With PA101 Completed NCT02478957 Phase 2 PA101;Placebo
10 Ontak (Denileukin Diftitox) in Patients With Systemic Mastocytosis (SM) Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
11 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia Completed NCT01807598 Phase 2 brentuximab vedotin
12 Phase 2 Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia Completed NCT00233454 Phase 2 Midostaurin
13 Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia Completed NCT00782067 Phase 2 Midostaurin (PKC412)
14 17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Systemic Mastocytosis Completed NCT00132015 Phase 2 tanespimycin
15 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2 thalidomide
16 Stem Cell Transplantation to Treat Systemic Mastocytosis Completed NCT00006413 Phase 2
17 A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related Cancers Completed NCT00109707 Phase 1, Phase 2 Nilotinib
18 Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
19 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
20 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
21 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
22 Safety and Efficacy of Subcutaneous Sarilumab in Improving the Quality of Life in People With Indolent Systemic Mastocytosis Recruiting NCT03770273 Phase 2
23 (PIONEER) Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, Versus Placebo in Patients With Indolent and Smoldering Systemic Mastocytosis Recruiting NCT03731260 Phase 2 Avapritinib;Placebo
24 (PATHFINDER) Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Recruiting NCT03580655 Phase 2 Avapritinib
25 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
26 CD16/IL-15/CD33 Tri-Specific Killer Engagers (TriKEs) for High Risk Heme Malignancies Not yet recruiting NCT03214666 Phase 1, Phase 2 161533 Trike Phase I;161533 Trike Phase II
27 Flotetuzumab in Treating Patients With Recurrent or Refractory CD123 Positive Blood Cancer Not yet recruiting NCT03739606 Phase 2
28 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
29 Obatoclax for Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
30 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 Avapritinib
31 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618
32 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Active, not recruiting NCT02808793 Phase 1 AK002
33 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
34 Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy Individuals Completed NCT00001760
35 Molecular Mechanisms and Diagnosis of Mastocytosis Completed NCT00336076
36 Use of Tamoxifen in Systemic Mastocytosis Recruiting NCT01334996
37 Diagnostic Value of Bone Marrow Tryptase in Systemic Mastocytosis Recruiting NCT02441166 Not Applicable
38 Study of Mast Cell Precursors Recruiting NCT00001756
39 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254
40 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Not yet recruiting NCT03632811

Search NIH Clinical Center for Systemic Mastocytosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 Mast Cell Disease, Systemic 29
2 Systemic Mastocytosis 29

Anatomical Context for Systemic Mastocytosis

MalaCards organs/tissues related to Systemic Mastocytosis:

41
Bone, Bone Marrow, Myeloid, Liver, Spleen, Small Intestine, Skin

Publications for Systemic Mastocytosis

Articles related to Systemic Mastocytosis:

(show top 50) (show all 812)
# Title Authors Year
1
Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis. ( 29341334 )
2018
2
Midostaurin in indolent systemic mastocytosis patients: an open-label phase 2 trial. ( 29890238 )
2018
3
Stone RM, Manley PW, Larson RA, Capdeville R. Midostaurin: its odyssey from discovery to approval for treating acute myeloid leukemia and advanced systemic mastocytosis. <i>Blood Adv</i>. 2017;2(4):444-453. ( 29618463 )
2018
4
Blatt K, Cerny-Reiterer S, Schwaab J, et al. Identification of the Ki-1 antigen (CD30) as a novel therapeutic target in systemic mastocytosis. <i>Blood.</i> 2015;126(26):2832-2841. ( 29567760 )
2018
5
Characterization of CD34<sup>+</sup>hematopoietic cells in systemic mastocytosis: Potential role in disease dissemination. ( 29331029 )
2018
6
Anaphylactic reaction to an ultrasound contrast agent (Lumason) in a patient with systemic mastocytosis. ( 29517164 )
2018
7
Systemic mastocytosis with concurrent multiple myeloma. ( 29599147 )
2018
8
How we diagnose and treat systemic mastocytosis in adults. ( 29048112 )
2018
9
Concurrent immunoglobulin E-mediated neuromuscular blocking agent allergy in systemic mastocytosis. ( 29481892 )
2018
10
Midostaurin: its odyssey from discovery to approval for treating acute myeloid leukemia and advanced systemic mastocytosis. ( 29487059 )
2018
11
Preclinical human models and emerging therapeutics for advanced systemic mastocytosis. ( 29976735 )
2018
12
Systemic mastocytosis identified in two women developing fragility fractures during lactation. ( 29619541 )
2018
13
Systemic mastocytosis associates with cardiovascular events despite lower plasma lipid levels. ( 29227868 )
2018
14
Eosinophil phagocytosis in advanced systemic mastocytosis with eosinophilia. ( 29602231 )
2018
15
Spotlight on midostaurin in the treatment of FLT3-mutated acute myeloid leukemia and systemic mastocytosis: design, development, and potential place in therapy. ( 29343975 )
2018
16
Systemic Mastocytosis: The Difficult Patient with a Rare Disease. Case Presentation and Brief Review. ( 29435387 )
2018
17
Indolent Systemic Mastocytosis Manifesting as Protracted Anaphylactic Shock. ( 29743774 )
2018
18
A Case of Mast Cell Leukemia: A Review of the Pathophysiology of Systemic Mastocytosis and Associated Psychiatric Symptoms. ( 29571984 )
2018
19
A comparison of clinical and molecular characteristics of patients with systemic mastocytosis with chronic myelomonocytic leukemia to CMML alone. ( 29712989 )
2018
20
Acquired von Willebrand syndrome during systemic mastocytosis: an analysis of 21 cases. ( 30057374 )
2018
21
BLU-285-the breakthrough in treatment of patients with aggressive systemic mastocytosis and gastrointestinal stromal tumor. ( 30023395 )
2018
22
Aggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia. ( 30069418 )
2018
23
Radiotherapy for breast cancer associated with a cutaneous presentation of systemic mastocytosis-a case report and literature review. ( 30487967 )
2018
24
Anesthetic management of patients with systemic mastocytosis. ( 29980002 )
2018
25
Safety of ultra-rush protocols for hymenoptera venom immunotherapy in systemic mastocytosis. ( 29984458 )
2018
26
Are Enterocolic Mucosal Mast Cell Aggregates Clinically Relevant in Patients Without Suspected or Established Systemic Mastocytosis? ( 30001235 )
2018
27
CD4 and CD30 Coexpression in a Cutaneous Manifestation of Systemic Mastocytosis-A Pitfall. ( 30035753 )
2018
28
Long-term Remission of Acute Myeloid Leukemia Developed From Systemic Mastocytosis by Conventional Chemotherapy. ( 30044348 )
2018
29
Midostaurin: A Multiple Tyrosine Kinases Inhibitor in Acute Myeloid Leukemia and Systemic Mastocytosis. ( 30069632 )
2018
30
FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis. ( 30115735 )
2018
31
Twelve-year follow-up of omalizumab therapy for anaphylaxis in 2 patients with systemic mastocytosis. ( 30149096 )
2018
32
Cytogenetic abnormalities in systemic mastocytosis: WHO subcategory-specific incidence and prognostic impact among 348 informative cases. ( 30152525 )
2018
33
Clinical Validation of KIT Inhibition in Advanced Systemic Mastocytosis. ( 30155614 )
2018
34
Practice-relevant demarcation of systemic mastocytosis associated with another hematologic neoplasm. ( 30156701 )
2018
35
Mitral Valve Replacement in a Patient With Systemic Mastocytosis. ( 30279067 )
2018
36
Massive splenomegaly: flow cytometry as a diagnostic tool for systemic mastocytosis. ( 30310794 )
2018
37
Impact of somatic and germline mutations on the outcome of systemic mastocytosis. ( 30373888 )
2018
38
The new tool "KIT" in advanced systemic mastocytosis. ( 30504301 )
2018
39
Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management. ( 30536695 )
2018
40
Systemic mastocytosis with an associated hematological neoplasm masquerading as overt primary myelofibrosis. ( 30545894 )
2018
41
Systemic Mastocytosis, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology. ( 30545997 )
2018
42
SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis. ( 28663576 )
2018
43
Prevalence and risk factors for fragility fracture in systemic mastocytosis. ( 28919366 )
2017
44
Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report. ( 28181948 )
2017
45
Neonatal aggressive systemic mastocytosis. ( 29192973 )
2017
46
Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial. ( 28744009 )
2017
47
Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome. ( 28439288 )
2017
48
Development of tripe palms and soles in a patient with long pre-existing systemic mastocytosis and newly developed non-small cell lung cancer. ( 29055165 )
2017
49
R634W KIT Mutation in an Adult With Systemic Mastocytosis. ( 28520972 )
2017
50
CCL2 is a KIT D816V-dependent modulator of the bone marrow microenvironment in systemic mastocytosis. ( 27856463 )
2017

Variations for Systemic Mastocytosis

ClinVar genetic disease variations for Systemic Mastocytosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIT NM_000222.2(KIT): c.2459A> T (p.Asp820Val) single nucleotide variant Likely pathogenic rs121913682 GRCh38 Chromosome 4, 54733167: 54733167
2 KIT NM_000222.2(KIT): c.2459A> T (p.Asp820Val) single nucleotide variant Likely pathogenic rs121913682 GRCh37 Chromosome 4, 55599333: 55599333

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 all 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 CD2 FGFR1 IFNA2 JAK2 KIT PDGFRA
2
Show member pathways
13.36 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
3
Show member pathways
13.27 CD2 FGFR1 IFNA2 JAK2 KIT KITLG
4
Show member pathways
13.25 CD2 FGFR1 JAK2 KIT KITLG PDGFRA
5
Show member pathways
13.15 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
6
Show member pathways
13.07 CD2 FGFR1 JAK2 KIT KITLG PDGFRA
7
Show member pathways
12.99 FGFR1 KIT KITLG PDGFRA PDGFRB
8
Show member pathways
12.94 FGFR1 KIT KITLG PDGFRA PDGFRB
9
Show member pathways
12.84 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
10
Show member pathways
12.8 JAK2 KIT KITLG PDGFRA PDGFRB
11
Show member pathways
12.73 FGFR1 KIT PDGFRA PDGFRB
12
Show member pathways
12.64 FGFR1 JAK2 PDGFRA PDGFRB
13
Show member pathways
12.64 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
14 12.63 FGFR1 KIT KITLG PDGFRA PDGFRB
15
Show member pathways
12.59 FGFR1 KIT KITLG PDGFRA PDGFRB
16
Show member pathways
12.57 FGFR1 KIT KITLG PDGFRA PDGFRB
17 12.45 CD2 JAK2 KIT KITLG
18
Show member pathways
12.28 IFNA2 JAK2 PDGFRA PDGFRB
19
Show member pathways
12.27 KIT KITLG PDGFRA PDGFRB
20
Show member pathways
12.27 FGFR1 KIT KITLG PDGFRA PDGFRB
21 12.22 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
22
Show member pathways
12.05 JAK2 KIT KITLG
23 12.01 FGFR1 PDGFRA PDGFRB
24
Show member pathways
11.96 CD2 FGFR1 JAK2 KITLG
25
Show member pathways
11.84 FGFR1 IFNA2 KIT KITLG PDGFRA PDGFRB
26 11.79 CD2 KIT KITLG
27 11.77 CD2 IFNA2 KIT KITLG
28 11.74 FGFR1 PDGFRA PDGFRB
29
Show member pathways
11.7 FGFR1 KIT PDGFRB
30
Show member pathways
11.66 KIT PDGFRA PDGFRB
31 11.61 FGFR1 KITLG PDGFRA PDGFRB
32 11.44 FGFR1 KIT PDGFRA PDGFRB
33 11.35 FGFR1 PDGFRA PDGFRB
34 11.31 FGFR1 PDGFRA PDGFRB
35 11.27 FGFR1 JAK2 PDGFRA PDGFRB
36 11.27 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
37 11.03 PDGFRA PDGFRB
38 10.86 KIT KITLG
39 10.79 PDGFRA PDGFRB
40 10.75 CD2 FGFR1 KIT KITLG PDGFRA PDGFRB

GO Terms for Systemic Mastocytosis

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.92 FGFR1 KIT PDGFRA PDGFRB

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.93 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.88 FGFR1 KIT PDGFRA PDGFRB
3 positive regulation of cell migration GO:0030335 9.87 JAK2 KIT PDGFRA PDGFRB
4 positive regulation of MAPK cascade GO:0043410 9.83 FGFR1 KIT PDGFRA PDGFRB
5 male gonad development GO:0008584 9.81 KIT KITLG PDGFRB
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.8 KIT PDGFRA PDGFRB
7 peptidyl-tyrosine phosphorylation GO:0018108 9.8 FGFR1 JAK2 KIT PDGFRA PDGFRB
8 cell chemotaxis GO:0060326 9.79 KIT PDGFRA PDGFRB
9 negative regulation of signal transduction GO:0009968 9.78 FGFR1 KIT PDGFRA PDGFRB
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.77 IFNA2 JAK2 KIT
11 protein autophosphorylation GO:0046777 9.77 FGFR1 JAK2 KIT PDGFRA PDGFRB
12 phosphatidylinositol-mediated signaling GO:0048015 9.73 FGFR1 PDGFRA PDGFRB
13 positive regulation of MAP kinase activity GO:0043406 9.73 FGFR1 KIT KITLG PDGFRB
14 positive regulation of protein kinase B signaling GO:0051897 9.72 FGFR1 KIT KITLG PDGFRA PDGFRB
15 platelet-derived growth factor receptor signaling pathway GO:0048008 9.69 JAK2 PDGFRA PDGFRB
16 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.67 KIT PDGFRA PDGFRB
17 cardiac myofibril assembly GO:0055003 9.65 PDGFRA PDGFRB
18 phosphatidylinositol phosphorylation GO:0046854 9.65 FGFR1 KIT KITLG PDGFRA PDGFRB
19 embryonic hemopoiesis GO:0035162 9.64 KIT KITLG
20 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.64 JAK2 PDGFRB
21 MAPK cascade GO:0000165 9.63 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
22 retina vasculature development in camera-type eye GO:0061298 9.61 PDGFRA PDGFRB
23 ectopic germ cell programmed cell death GO:0035234 9.58 KIT KITLG
24 metanephric glomerular capillary formation GO:0072277 9.55 PDGFRA PDGFRB
25 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.54 PDGFRA PDGFRB
26 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.35 FGFR1 JAK2 KIT PDGFRA PDGFRB
27 positive regulation of phospholipase C activity GO:0010863 8.92 FGFR1 KIT PDGFRA PDGFRB
28 cell differentiation GO:0030154 10.05 FGFR1 JAK2 KIT PDGFRA PDGFRB
29 phosphorylation GO:0016310 10.02 FGFR1 JAK2 KIT PDGFRA PDGFRB
30 protein phosphorylation GO:0006468 10.02 FGFR1 JAK2 KIT PDGFRA PDGFRB
31 negative regulation of apoptotic process GO:0043066 10 FGFR1 KIT KITLG PDGFRA PDGFRB

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.88 FGFR1 JAK2 KIT PDGFRA PDGFRB
2 protein kinase activity GO:0004672 9.85 FGFR1 JAK2 KIT PDGFRA PDGFRB
3 transmembrane signaling receptor activity GO:0004888 9.73 FGFR1 KIT PDGFRA PDGFRB
4 nucleotide binding GO:0000166 9.72 FGFR1 JAK2 KIT PDGFRA PDGFRB
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.56 FGFR1 KIT PDGFRA PDGFRB
6 protein tyrosine kinase activity GO:0004713 9.55 FGFR1 JAK2 KIT PDGFRA PDGFRB
7 phosphatidylinositol 3-kinase binding GO:0043548 9.52 JAK2 PDGFRB
8 platelet-derived growth factor receptor binding GO:0005161 9.51 PDGFRA PDGFRB
9 platelet-derived growth factor binding GO:0048407 9.49 PDGFRA PDGFRB
10 vascular endothelial growth factor binding GO:0038085 9.4 PDGFRA PDGFRB
11 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.35 FGFR1 KIT KITLG PDGFRA PDGFRB
12 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.1 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
13 protein binding GO:0005515 10.18 ASXL1 CD2 FGFR1 FIP1L1 HDC IFNA2

Sources for Systemic Mastocytosis

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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