MCID: SYS004
MIFTS: 65

Systemic Mastocytosis

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Systemic Mastocytosis

MalaCards integrated aliases for Systemic Mastocytosis:

Name: Systemic Mastocytosis 37 12 72 49 14
Mastocytosis, Systemic 41 69
Corneal Dystrophy, Subepithelial Mucinous 69
Smcd - Systemic Mast Cell Disease 12
Systemic Tissue Mast Cell Disease 12
Mast Cell Disease, Systemic 28
Systemic Mast Cell Disease 49
Mastocytosis Systemic 51
Smcd 49

Classifications:



Summaries for Systemic Mastocytosis

NIH Rare Diseases : 49 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. Last updated: 9/6/2016

MalaCards based summary : Systemic Mastocytosis, also known as mastocytosis, systemic, is related to aggressive systemic mastocytosis and indolent systemic mastocytosis, and has symptoms including osteoporosis, skin rash and urticaria. An important gene associated with Systemic Mastocytosis is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. 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 Decreased viability and Decreased viability

Wikipedia : 72 Mastocytosis, a type of mast cell disease, is a rare mast cell activation disorder of both children and... more...

Related Diseases for Systemic Mastocytosis

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

(show top 50) (show all 179)
# Related Disease Score Top Affiliating Genes
1 aggressive systemic mastocytosis 33.7 IFNA2 KIT KITLG
2 indolent systemic mastocytosis 32.3 CD2 HDC KIT KITLG TPSAB1
3 mast-cell leukemia 31.9 KIT KITLG
4 sm-ahnmd 31.6 CD2 FIP1L1 KIT PDGFRA
5 corneal dystrophy, subepithelial mucinous 31.2 FIP1L1 PDGFRA PDGFRB
6 urticaria pigmentosa 30.7 KIT KITLG
7 splenomegaly 30.1 IFNA2 JAK2
8 mast cell disease 29.9 CD2 IFNA2 KIT KITLG PDGFRA PDGFRB
9 chronic myelomonocytic leukemia 29.9 JAK2 KIT PDGFRB TET2
10 leukemia, acute myeloid 29.8 CD2 JAK2 KIT KITLG TET2
11 core binding factor acute myeloid leukemia 29.7 JAK2 KIT
12 essential thrombocythemia 29.7 IFNA2 JAK2 TET2
13 mast cell neoplasm 29.3 HDC KIT KITLG
14 myelofibrosis 29.2 IFNA2 JAK2 KIT PDGFRB TET2
15 myelodysplastic syndrome 29.0 JAK2 KIT KITLG PDGFRB TET2
16 cutaneous mastocytosis 29.0 CD2 KIT KITLG TPSAB1
17 chronic eosinophilic leukemia 28.6 FGFR1 FIP1L1 KIT PDGFRA PDGFRB
18 hypereosinophilic syndrome, idiopathic 28.6 FIP1L1 KIT PDGFRA PDGFRB
19 hypereosinophilic syndrome 28.6 FGFR1 FIP1L1 KIT PDGFRA PDGFRB
20 myeloproliferative neoplasm 28.3 FGFR1 FIP1L1 JAK2 PDGFRA PDGFRB TET2
21 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.2
22 smouldering systemic mastocytosis 12.1
23 metaphyseal chondrodysplasia, schmid type 11.6
24 maculopapular cutaneous mastocytosis 10.9
25 mastocytic enterocolitis 10.9
26 monoclonal mast cell activation syndrome 10.9
27 leukemia 10.5
28 reticular perineurioma 10.4 KIT PDGFRA
29 gastric leiomyosarcoma 10.4 KIT PDGFRA
30 carney triad 10.4 KIT PDGFRA
31 conventional fibrosarcoma 10.4 KIT PDGFRA
32 endometrial small cell carcinoma 10.4 KIT PDGFRA
33 pulmonary vein stenosis 10.4 KIT PDGFRA
34 lung adenoid cystic carcinoma 10.4 KIT PDGFRA
35 myelodysplastic myeloproliferative cancer 10.3 JAK2 TET2
36 undifferentiated pleomorphic sarcoma 10.3 KIT PDGFRA
37 refractory anemia 10.3 JAK2 TET2
38 mesenchymal cell neoplasm 10.3 KIT PDGFRA
39 neurofibromatosis, type i 10.3 KIT PDGFRA
40 extracutaneous mastocytoma 10.3 CD2 KIT
41 bone mineral density quantitative trait locus 15 10.3
42 myeloid leukemia 10.3
43 ewing's family of tumors 10.2 KIT KITLG
44 sarcomatoid renal cell carcinoma 10.2 IFNA2 KIT PDGFRA
45 osteoporosis 10.2
46 bone mineral density quantitative trait locus 8 10.2
47 malignant skin fibrous histiocytoma 10.2 IFNA2 KIT
48 dowling-degos disease 1 10.2 KIT KITLG
49 lymphoma 10.2
50 piebald trait 10.2 KIT KITLG PDGFRA

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:

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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.4 PDGFRA
2 Decreased viability GR00221-A-1 9.4 FGFR1 KIT PDGFRA PDGFRB
3 Decreased viability GR00221-A-2 9.4 FGFR1
4 Decreased viability GR00221-A-3 9.4 PDGFRA PDGFRB
5 Decreased viability GR00221-A-4 9.4 PDGFRA PDGFRB
6 Decreased viability GR00301-A 9.4 KIT
7 Decreased viability GR00342-S-1 9.4 PDGFRB

MGI Mouse Phenotypes related to Systemic Mastocytosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 FGFR1 HDC JAK2 KIT KITLG PDGFRA
2 endocrine/exocrine gland MP:0005379 9.95 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
3 immune system MP:0005387 9.92 KITLG PDGFRA PDGFRB TET2 FGFR1 HDC
4 embryo MP:0005380 9.91 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
5 integument MP:0010771 9.8 PDGFRA PDGFRB FGFR1 HDC JAK2 KIT
6 limbs/digits/tail MP:0005371 9.55 FGFR1 KIT KITLG PDGFRA PDGFRB
7 neoplasm MP:0002006 9.35 JAK2 KIT KITLG PDGFRA TET2
8 normal MP:0002873 9.17 CD2 FGFR1 JAK2 KIT PDGFRA PDGFRB

Drugs & Therapeutics for Systemic Mastocytosis

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

(show all 45)
# 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 123596
3
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
4
Denosumab Approved Phase 3 615258-40-7
5 Bone Density Conservation Agents Phase 3
6 Immunosuppressive Agents Phase 2, Phase 3
7 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
8 Pharmaceutical Solutions Phase 3
9
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
10
Everolimus Approved Phase 2 159351-69-6 6442177
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
13
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
14
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
15
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
16 Staurosporine Experimental Phase 2 62996-74-1
17 4'-N-benzoylstaurosporine Phase 2
18 Specific substance maruyama Phase 2
19 Anti-Bacterial Agents Phase 2
20 Antibiotics, Antitubercular Phase 2
21 Antifungal Agents Phase 2
22 Anti-Infective Agents Phase 2
23 Cromolyn Sodium Phase 2
24 Analgesics Phase 2
25 Analgesics, Non-Narcotic Phase 2
26 Interleukin-2 Phase 2
27 Peripheral Nervous System Agents Phase 2
28 Antibodies Phase 2
29 Antibodies, Monoclonal Phase 2
30 Immunoglobulins Phase 2
31 Angiogenesis Inhibitors Phase 2
32 Angiogenesis Modulating Agents Phase 2
33 tyrosine Nutraceutical Phase 2
34
Tamoxifen Approved 10540-29-1 2733526
35
Lenograstim Approved, Investigational 135968-09-1
36 Antineoplastic Agents, Hormonal
37 Estrogen Antagonists
38 Estrogen Receptor Modulators
39 Estrogens
40 Hormone Antagonists
41 Hormones
42 Hormones, Hormone Substitutes, and Hormone Antagonists
43 Selective Estrogen Receptor Modulators
44 Adjuvants, Immunologic
45 JM 3100

Interventional clinical trials:

(show all 35)

# Name Status NCT ID Phase Drugs
1 Imatinib in KIT-negative Systemic Mastocytosis Completed NCT01297777 Phase 4 Imatinib Mesylate
2 A Phase 3 Study to Compare Efficacy and Safety of Masitinib to Placebo in the Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap Unknown status NCT00814073 Phase 3 masitinib (AB1010);placebo
3 Study on Mastocytosis for Rupatadine Treatment Completed NCT01481909 Phase 2, Phase 3 Rupatadin
4 Cladribine Plus Pegylated Interpheron Alfa-2a in Systemic Mastocytosis Recruiting NCT01602939 Phase 2, Phase 3 Cladribine and pegylated interpheron alpha-2a
5 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Not yet 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 17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Systemic Mastocytosis Completed NCT00132015 Phase 2 tanespimycin
13 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2 thalidomide
14 Stem Cell Transplantation to Treat Systemic Mastocytosis Completed NCT00006413 Phase 2
15 A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related Cancers Completed NCT00109707 Phase 1, Phase 2 Nilotinib
16 Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
17 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
18 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
19 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
20 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
21 Phase II Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia Active, not recruiting NCT00233454 Phase 2 Midostaurin
22 Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia Active, not recruiting NCT00782067 Phase 2 Midostaurin (PKC412)
23 CD16/IL-15/CD33 Tri-Specific Killer Engagers (TriKes) for CD33+ Hem Malignancies Not yet recruiting NCT03214666 Phase 1, Phase 2 161533 with Bolus Test Dose;161533 Only
24 Obatoclax for Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
25 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
26 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (advSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 Avapritinib
27 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Recruiting NCT02808793 Phase 1 AK002
28 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618
29 Use of Tamoxifen in Systemic Mastocytosis Unknown status NCT01334996
30 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
31 Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy Individuals Completed NCT00001760
32 Molecular Mechanisms and Diagnosis of Mastocytosis Completed NCT00336076
33 Diagnostic Value of Bone Marrow Tryptase in Systemic Mastocytosis Recruiting NCT02441166
34 Study of Mast Cell Precursors Recruiting NCT00001756
35 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254

Search NIH Clinical Center for Systemic Mastocytosis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 28

Anatomical Context for Systemic Mastocytosis

MalaCards organs/tissues related to Systemic Mastocytosis:

38
Bone, Bone Marrow, Myeloid, Liver, Spleen, Small Intestine, Skin

Publications for Systemic Mastocytosis

Articles related to Systemic Mastocytosis:

(show top 50) (show all 669)
# Title Authors Year
1
Characterization of CD34<sup>+</sup>hematopoietic cells in systemic mastocytosis: Potential role in disease dissemination. ( 29331029 )
2018
2
Systemic Mastocytosis: The Difficult Patient with a Rare Disease. Case Presentation and Brief Review. ( 29435387 )
2018
3
How we diagnose and treat systemic mastocytosis in adults. ( 29048112 )
2018
4
Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis. ( 29341334 )
2018
5
Systemic mastocytosis associates with cardiovascular events despite lower plasma lipid levels. ( 29227868 )
2018
6
Spotlight on midostaurin in the treatment of FLT3-mutated acute myeloid leukemia and systemic mastocytosis: design, development, and potential place in therapy. ( 29343975 )
2018
7
Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial. ( 28744009 )
2017
8
Pre-emptive Evaluation of Venom Allergy in a Patient with Systemic Mastocytosis. ( 28902950 )
2017
9
R634W KIT Mutation in an Adult With Systemic Mastocytosis. ( 28520972 )
2017
10
CCL2 is a KIT D816V-dependent modulator of the bone marrow microenvironment in systemic mastocytosis. ( 27856463 )
2017
11
Investigation of mast cell toll-like receptor 3 in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis and Systemic Mastocytosis participants using the novel application of autoMACS magnetic separation and flow cytometry. ( 29223146 )
2017
12
Tyrosine Kinase Inhibitors in the Treatment of Eosinophilic Neoplasms and Systemic Mastocytosis. ( 28673393 )
2017
13
Midostaurin (Rydapt) for AML and advanced systemic mastocytosis. ( 28787746 )
2017
14
Routine abdominal ultrasonography has limited value in the care for patients with indolent systemic mastocytosis. ( 28486845 )
2017
15
Response and progression on midostaurin in advanced systemic mastocytosis: KIT D816V and other molecular markers. ( 28424161 )
2017
16
Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome. ( 28439288 )
2017
17
FGFR1 translocation with concurrent myeloproliferative neoplasm, systemic mastocytosis, and lymphoblastic lymphoma: a case report. ( 29107667 )
2017
18
Crenolanib is a type I tyrosine kinase inhibitor that inhibits mutant<i>KIT</i>D816 isoforms prevalent in systemic mastocytosis and core binding factor leukemia. ( 29137311 )
2017
19
Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report. ( 28181948 )
2017
20
Multiple large osteolytic lesions in a patient with systemic mastocytosis: a challenging diagnosis. ( 29225841 )
2017
21
A new therapeutic advance for symptomatic systemic mastocytosis? ( 28069280 )
2017
22
Acute Myeloid Leukemia With Inv(16)(p13q22) Associated With Hidden Systemic Mastocytosis: Case Report and Review of Literature. ( 28579854 )
2017
23
A case of lymphocytic variant hypereosinophilic syndrome with sub-diagnostic systemic mastocytosis. ( 28401108 )
2017
24
Maxillar osteonecrosis associated to denosumab in a patient with systemic mastocytosis. ( 29162274 )
2017
25
Systemic Mastocytosis in Association with Small Lymphocytic Lymphoma. ( 28970467 )
2017
26
SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis. ( 28663576 )
2017
27
Clonal reticulohistiocytosis of the skin and bone marrow associated with systemic mastocytosis and acute myeloid leukaemia. ( 28074480 )
2017
28
Midostaurin treatment in FLT3-mutated acute myeloid leukemia and systemic mastocytosis. ( 28960095 )
2017
29
Natural history and treatment of cutaneous and systemic mastocytosis. ( 28770635 )
2017
30
Omalizumab prevents anaphylaxis and improves symptoms in systemic mastocytosis: Efficacy and safety observations. ( 28662309 )
2017
31
Prospective evaluation of the diagnostic value of sensitive KIT D816V mutation analysis of blood in adults with suspected systemic mastocytosis. ( 28432683 )
2017
32
In utero presentation of aggressive systemic mastocytosis in a neonate. ( 28369700 )
2017
33
Prevalence and risk factors for fragility fracture in systemic mastocytosis. ( 28919366 )
2017
34
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
35
Longitudinal Evaluation of Bone Mineral Density and Bone Metabolism Markers in Patients with Indolent Systemic Mastocytosis Without Osteoporosis. ( 27743017 )
2017
36
General Anesthesia for Electroconvulsive Therapy in a Patient With Systemic Mastocytosis. ( 28976442 )
2017
37
Management of poorly controlled indolent systemic mastocytosis using narrowband UVB phototherapy. ( 28632811 )
2017
38
Neonatal aggressive systemic mastocytosis. ( 29192973 )
2017
39
Systemic mastocytosis associated with acute myeloid leukaemia. ( 28826833 )
2017
40
Association of prognostic features and treatment on survival time of dogs with systemic mastocytosis: A retrospective analysis of 40 dogs. ( 29239110 )
2017
41
Dystonia as an unusual presentation of systemic mastocytosis: possible link between histamine release and movement disorders. ( 28757371 )
2017
42
Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study. ( 28069279 )
2017
43
Midostaurin: a novel therapeutic agent for patients with FLT3-mutated acute myeloid leukemia and systemic mastocytosis. ( 29051803 )
2017
44
Systemic mastocytosis: A rare cause of non-cirrhotic portal hypertension. ( 27605890 )
2016
45
Imatinib in systemic mastocytosis: a phase IV clinical trial in patients lacking exon 17 KIT mutations and review of the literature. ( 27448981 )
2016
46
Histone deacetylase inhibitor SAHA mediates mast cell death and epigenetic silencing of constitutively active D816V KIT in systemic mastocytosis. ( 28038453 )
2016
47
Systemic Mastocytosis with Smoldering Multiple Myeloma: Report of a Case. ( 27293930 )
2016
48
Comparison of gDNA-based versus mRNA-based KIT D816V mutation analysis reveals large differences between blood andA bone marrow in systemic mastocytosis. ( 27196380 )
2016
49
KIT D816V-mutated bone marrow mesenchymal stem cells in indolent systemic mastocytosis are associated with disease progression. ( 26622064 )
2016
50
Systemic mastocytosis: Evolving lessons from large patient registry datasets. ( 27102564 )
2016

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> G (p.Asp820Gly) single nucleotide variant 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 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 CD2 FGFR1 JAK2 KIT KITLG PDGFRA
2
Show member pathways
13.43 CD2 FGFR1 IFNA2 JAK2 KIT KITLG
3
Show member pathways
13.36 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
4
Show member pathways
13.24 CD2 FGFR1 JAK2 KIT KITLG PDGFRA
5
Show member pathways
13.24 CD2 FGFR1 IFNA2 JAK2 KIT KITLG
6
Show member pathways
13.13 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
7
Show member pathways
13.11 FGFR1 KIT KITLG PDGFRA PDGFRB
8
Show member pathways
13.04 CD2 FGFR1 JAK2 KIT KITLG PDGFRA
9
Show member pathways
12.98 FGFR1 KIT KITLG PDGFRA PDGFRB
10
Show member pathways
12.93 FGFR1 KIT KITLG PDGFRA PDGFRB
11
Show member pathways
12.91 FGFR1 JAK2 KIT PDGFRA PDGFRB
12
Show member pathways
12.81 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
13
Show member pathways
12.74 JAK2 KIT KITLG PDGFRA PDGFRB
14 12.64 FGFR1 KIT KITLG PDGFRA PDGFRB
15
Show member pathways
12.61 FGFR1 KIT KITLG PDGFRA PDGFRB
16
Show member pathways
12.56 FGFR1 KIT KITLG PDGFRA PDGFRB
17
Show member pathways
12.52 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
18 12.44 CD2 JAK2 KIT KITLG
19
Show member pathways
12.29 KIT KITLG PDGFRA PDGFRB
20
Show member pathways
12.24 IFNA2 JAK2 PDGFRA PDGFRB
21 12.22 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
22
Show member pathways
12.05 JAK2 KIT KITLG
23 11.79 CD2 KIT KITLG
24 11.74 FGFR1 PDGFRA PDGFRB
25 11.73 CD2 IFNA2 KIT KITLG
26
Show member pathways
11.71 FGFR1 KIT PDGFRB
27
Show member pathways
11.56 KIT PDGFRA PDGFRB
28 11.37 FGFR1 PDGFRA PDGFRB
29 11.37 FGFR1 KIT PDGFRA PDGFRB
30 11.31 FGFR1 PDGFRA PDGFRB
31 11.29 FGFR1 JAK2 PDGFRA PDGFRB
32 11.26 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
33 11.02 PDGFRA PDGFRB
34 10.85 KIT KITLG
35 10.78 PDGFRA PDGFRB
36 10.7 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 intrinsic component of plasma membrane GO:0031226 8.62 PDGFRA PDGFRB

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.99 FGFR1 JAK2 KIT PDGFRA PDGFRB
2 positive regulation of cell proliferation GO:0008284 9.93 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
3 positive regulation of cell migration GO:0030335 9.85 JAK2 KIT PDGFRA PDGFRB
4 cell migration GO:0016477 9.82 FGFR1 JAK2 PDGFRB
5 cytokine-mediated signaling pathway GO:0019221 9.81 IFNA2 JAK2 KIT
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.8 KIT PDGFRA PDGFRB
7 protein autophosphorylation GO:0046777 9.8 FGFR1 JAK2 KIT PDGFRA PDGFRB
8 male gonad development GO:0008584 9.79 KIT KITLG PDGFRB
9 peptidyl-tyrosine phosphorylation GO:0018108 9.77 FGFR1 JAK2 KIT PDGFRA PDGFRB
10 cell chemotaxis GO:0060326 9.75 KIT PDGFRA PDGFRB
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 IFNA2 JAK2 KIT
12 positive regulation of MAP kinase activity GO:0043406 9.73 FGFR1 KIT KITLG PDGFRB
13 MAPK cascade GO:0000165 9.73 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
14 positive regulation of protein kinase B signaling GO:0051897 9.72 FGFR1 KIT KITLG PDGFRA PDGFRB
15 phosphatidylinositol-mediated signaling GO:0048015 9.7 FGFR1 PDGFRA PDGFRB
16 platelet-derived growth factor receptor signaling pathway GO:0048008 9.67 JAK2 PDGFRA PDGFRB
17 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.65 KIT PDGFRA PDGFRB
18 embryonic hemopoiesis GO:0035162 9.63 KIT KITLG
19 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.62 JAK2 PDGFRB
20 cardiac myofibril assembly GO:0055003 9.61 PDGFRA PDGFRB
21 retina vasculature development in camera-type eye GO:0061298 9.6 PDGFRA PDGFRB
22 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.58 PDGFRA PDGFRB
23 ectopic germ cell programmed cell death GO:0035234 9.57 KIT KITLG
24 phosphatidylinositol phosphorylation GO:0046854 9.55 FGFR1 KIT KITLG PDGFRA PDGFRB
25 metanephric glomerular capillary formation GO:0072277 9.54 PDGFRA PDGFRB
26 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.51 PDGFRA PDGFRB
27 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.35 FGFR1 JAK2 KIT PDGFRA PDGFRB
28 positive regulation of phospholipase C activity GO:0010863 8.92 FGFR1 KIT PDGFRA PDGFRB
29 phosphorylation GO:0016310 10 FGFR1 JAK2 KIT PDGFRA PDGFRB

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.83 FGFR1 JAK2 KIT PDGFRA PDGFRB
2 protein kinase activity GO:0004672 9.8 FGFR1 JAK2 KIT PDGFRA PDGFRB
3 nucleotide binding GO:0000166 9.72 FGFR1 JAK2 KIT PDGFRA PDGFRB
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.56 FGFR1 KIT PDGFRA PDGFRB
5 protein tyrosine kinase activity GO:0004713 9.55 FGFR1 JAK2 KIT PDGFRA PDGFRB
6 phosphatidylinositol 3-kinase binding GO:0043548 9.51 JAK2 PDGFRB
7 platelet-derived growth factor receptor binding GO:0005161 9.49 PDGFRA PDGFRB
8 platelet-derived growth factor binding GO:0048407 9.48 PDGFRA PDGFRB
9 vascular endothelial growth factor binding GO:0038085 9.37 PDGFRA PDGFRB
10 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.35 FGFR1 KIT KITLG PDGFRA PDGFRB
11 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.1 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
12 protein binding GO:0005515 10.23 CD2 FGFR1 FIP1L1 HDC IFNA2 JAK2

Sources for Systemic Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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