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 38 12 76 53 29 15
Mast Cell Disease, Systemic 29 6
Mastocytosis, Systemic 44 73
Corneal Dystrophy, Subepithelial Mucinous 73
Smcd - Systemic Mast Cell Disease 12
Systemic Tissue Mast Cell Disease 12
Systemic Mast Cell Disease 53
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 mast-cell leukemia. An important gene associated with Systemic Mastocytosis is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are 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 osteoporosis and skin rash

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

(show top 50) (show all 180)
# Related Disease Score Top Affiliating Genes
1 aggressive systemic mastocytosis 33.9 IFNA2 KIT KITLG
2 mast-cell leukemia 32.0 KIT KITLG
3 indolent systemic mastocytosis 31.6 CD2 HDC KIT KITLG TPSAB1
4 sm-ahnmd 31.1 CD2 FIP1L1 KIT PDGFRA
5 urticaria pigmentosa 31.0 KIT KITLG
6 corneal dystrophy, subepithelial mucinous 31.0 FIP1L1 PDGFRA PDGFRB
7 splenomegaly 30.5 IFNA2 JAK2
8 core binding factor acute myeloid leukemia 29.8 JAK2 KIT
9 essential thrombocythemia 29.8 IFNA2 JAK2 TET2
10 chronic myelomonocytic leukemia 29.8 JAK2 KIT PDGFRB TET2
11 myelofibrosis 29.8 IFNA2 JAK2 KIT TET2
12 leukemia, acute myeloid 29.4 CD2 JAK2 KIT KITLG TET2
13 mast cell neoplasm 29.3 HDC KIT KITLG
14 cutaneous mastocytosis 28.7 CD2 KIT KITLG TPSAB1
15 mast cell disease 28.7 CD2 IFNA2 KIT KITLG PDGFRA PDGFRB
16 myelodysplastic syndrome 28.6 JAK2 KIT KITLG PDGFRB TET2
17 hypereosinophilic syndrome, idiopathic 28.2 FIP1L1 KIT PDGFRA PDGFRB
18 chronic eosinophilic leukemia 27.9 FGFR1 FIP1L1 KIT PDGFRA PDGFRB
19 hypereosinophilic syndrome 27.9 FGFR1 FIP1L1 KIT PDGFRA PDGFRB
20 myeloproliferative neoplasm 26.9 FGFR1 FIP1L1 JAK2 KIT PDGFRA PDGFRB
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 11.3
25 diffuse cutaneous mastocytosis 10.9
26 mastocytic enterocolitis 10.9
27 monoclonal mast cell activation syndrome 10.9
28 reticular perineurioma 10.7 KIT PDGFRA
29 gastric leiomyosarcoma 10.6 KIT PDGFRA
30 conventional fibrosarcoma 10.6 KIT PDGFRA
31 endometrial small cell carcinoma 10.6 KIT PDGFRA
32 pulmonary vein stenosis 10.6 KIT PDGFRA
33 undifferentiated pleomorphic sarcoma 10.6 KIT PDGFRA
34 myelodysplastic myeloproliferative cancer 10.5 JAK2 TET2
35 lung adenoid cystic carcinoma 10.5 KIT PDGFRA
36 carney triad 10.5 KIT PDGFRA
37 refractory anemia 10.5 JAK2 TET2
38 mesenchymal cell neoplasm 10.5 KIT PDGFRA
39 leukemia 10.4
40 lymphoblastic leukemia, acute, with lymphomatous features 10.4 FGFR1 JAK2
41 extracutaneous mastocytoma 10.4 CD2 KIT
42 sarcomatoid renal cell carcinoma 10.4 IFNA2 KIT PDGFRA
43 neurofibromatosis, type i 10.4 KIT PDGFRA
44 ewing's family of tumors 10.4 KIT KITLG
45 malignant skin fibrous histiocytoma 10.4 IFNA2 KIT
46 dowling-degos disease 1 10.4 KIT KITLG
47 myeloid leukemia 10.3
48 piebald trait 10.3 KIT KITLG PDGFRA
49 neurofibroma 10.3 KIT KITLG PDGFRA
50 malignant dermis tumor 10.2 IFNA2 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 osteoporosis 32 frequent (33%) HP:0000939
2 skin rash 32 frequent (33%) HP:0000988
3 urticaria 32 hallmark (90%) HP:0001025
4 cirrhosis 32 occasional (7.5%) HP:0001394
5 portal hypertension 32 occasional (7.5%) HP:0001409
6 ascites 32 occasional (7.5%) HP:0001541
7 sudden cardiac death 32 occasional (7.5%) HP:0001645
8 splenomegaly 32 occasional (7.5%) HP:0001744
9 thrombocytopenia 32 frequent (33%) HP:0001873
10 abnormal eosinophil morphology 32 hallmark (90%) HP:0001879
11 leukopenia 32 frequent (33%) HP:0001882
12 anemia 32 frequent (33%) HP:0001903
13 nausea and vomiting 32 hallmark (90%) HP:0002017
14 malabsorption 32 hallmark (90%) HP:0002024
15 abdominal pain 32 hallmark (90%) HP:0002027
16 asthma 32 occasional (7.5%) HP:0002099
17 hepatomegaly 32 occasional (7.5%) HP:0002240
18 headache 32 hallmark (90%) HP:0002315
19 acute leukemia 32 occasional (7.5%) HP:0002488
20 bone pain 32 occasional (7.5%) HP:0002653
21 lymphadenopathy 32 occasional (7.5%) HP:0002716
22 recurrent fractures 32 occasional (7.5%) HP:0002757
23 osteolysis 32 occasional (7.5%) HP:0002797
24 arthralgia 32 occasional (7.5%) HP:0002829
25 myalgia 32 occasional (7.5%) HP:0003326
26 abnormality of the gastric mucosa 32 occasional (7.5%) HP:0004295
27 bone marrow hypocellularity 32 occasional (7.5%) HP:0005528
28 chronic leukemia 32 occasional (7.5%) HP:0005558
29 generalized osteosclerosis 32 frequent (33%) HP:0005789
30 impaired temperature sensation 32 frequent (33%) HP:0010829
31 mastocytosis 32 hallmark (90%) HP:0100495

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
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 KITLG FGFR1 HDC PDGFRA JAK2 PDGFRB
2 endocrine/exocrine gland MP:0005379 9.95 KITLG FGFR1 PDGFRA JAK2 PDGFRB KIT
3 immune system MP:0005387 9.92 KITLG FGFR1 HDC PDGFRA JAK2 PDGFRB
4 embryo MP:0005380 9.91 KITLG FGFR1 PDGFRA JAK2 PDGFRB KIT
5 craniofacial MP:0005382 9.85 KIT KITLG FGFR1 PDGFRA PDGFRB
6 integument MP:0010771 9.8 KITLG FGFR1 PDGFRA HDC JAK2 PDGFRB
7 limbs/digits/tail MP:0005371 9.55 KITLG FGFR1 PDGFRA PDGFRB KIT
8 neoplasm MP:0002006 9.35 KITLG PDGFRA JAK2 KIT TET2
9 normal MP:0002873 9.17 CD2 FGFR1 PDGFRA JAK2 PDGFRB KIT

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 220127-57-1 123596
3
Denosumab Approved Phase 3 615258-40-7
4
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
5 Bone Density Conservation Agents Phase 3
6 Immunosuppressive Agents Phase 2, Phase 3
7 Pharmaceutical Solutions Phase 3
8 2-chloro-3'-deoxyadenosine Phase 2, 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 5284616 6436030 46835353
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 36)
# 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 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Recruiting NCT03401060 Phase 3 Denosumab;Placebo
5 Cladribine Plus Pegylated Interpheron Alfa-2a in Systemic Mastocytosis Recruiting NCT01602939 Phase 2, Phase 3 Cladribine and pegylated interpheron alpha-2a
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 17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Systemic Mastocytosis Completed NCT00132015 Phase 2 tanespimycin
14 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2 thalidomide
15 Stem Cell Transplantation to Treat Systemic Mastocytosis Completed NCT00006413 Phase 2
16 A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related Cancers Completed NCT00109707 Phase 1, Phase 2 Nilotinib
17 Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
18 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
19 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
20 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
21 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
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 Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Not yet recruiting NCT03580655 Phase 2 Avapritinib
24 CD16/IL-15/CD33 Tri-Specific Killer Engagers (TriKes) for CD33+ Hem Malignancies Not yet recruiting NCT03214666 Phase 1, Phase 2 161533 Trike Phase I;161533 Trike Phase II
25 Obatoclax for Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
26 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
27 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (advSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 Avapritinib
28 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618
29 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Active, not recruiting NCT02808793 Phase 1 AK002
30 Use of Tamoxifen in Systemic Mastocytosis Unknown status NCT01334996
31 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
32 Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy Individuals Completed NCT00001760
33 Molecular Mechanisms and Diagnosis of Mastocytosis Completed NCT00336076
34 Diagnostic Value of Bone Marrow Tryptase in Systemic Mastocytosis Recruiting NCT02441166 Not Applicable
35 Study of Mast Cell Precursors Recruiting NCT00001756
36 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254

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 696)
# 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
Anesthetic management of patients with systemic mastocytosis. ( 29980002 )
2018
21
Prevalence and risk factors for fragility fracture in systemic mastocytosis. ( 28919366 )
2017
22
Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report. ( 28181948 )
2017
23
Neonatal aggressive systemic mastocytosis. ( 29192973 )
2017
24
Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial. ( 28744009 )
2017
25
Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome. ( 28439288 )
2017
26
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
27
R634W KIT Mutation in an Adult With Systemic Mastocytosis. ( 28520972 )
2017
28
CCL2 is a KIT D816V-dependent modulator of the bone marrow microenvironment in systemic mastocytosis. ( 27856463 )
2017
29
Multiple large osteolytic lesions in a patient with systemic mastocytosis: a challenging diagnosis. ( 29225841 )
2017
30
Management of poorly controlled indolent systemic mastocytosis using narrowband UVB phototherapy. ( 28632811 )
2017
31
Dystonia as an unusual presentation of systemic mastocytosis: possible link between histamine release and movement disorders. ( 28757371 )
2017
32
Midostaurin treatment in FLT3-mutated acute myeloid leukemia and systemic mastocytosis. ( 28960095 )
2017
33
A new therapeutic advance for symptomatic systemic mastocytosis? ( 28069280 )
2017
34
Routine abdominal ultrasonography has limited value in the care for patients with indolent systemic mastocytosis. ( 28486845 )
2017
35
Midostaurin (Rydapt) for AML and advanced systemic mastocytosis. ( 28787746 )
2017
36
In utero presentation of aggressive systemic mastocytosis in a neonate. ( 28369700 )
2017
37
Case Report: Treatment of systemic mastocytosis with sunitinib. ( 29770197 )
2017
38
Longitudinal Evaluation of Bone Mineral Density and Bone Metabolism Markers in Patients with Indolent Systemic Mastocytosis Without Osteoporosis. ( 27743017 )
2017
39
Omalizumab prevents anaphylaxis and improves symptoms in systemic mastocytosis: Efficacy and safety observations. ( 28662309 )
2017
40
Systemic Mastocytosis in Association with Small Lymphocytic Lymphoma. ( 28970467 )
2017
41
Acute Myeloid Leukemia With Inv(16)(p13q22) Associated With Hidden Systemic Mastocytosis: Case Report and Review of Literature. ( 28579854 )
2017
42
Midostaurin: a novel therapeutic agent for patients with FLT3-mutated acute myeloid leukemia and systemic mastocytosis. ( 29051803 )
2017
43
Association of prognostic features and treatment on survival time of dogs with systemic mastocytosis: A retrospective analysis of 40 dogs. ( 29239110 )
2017
44
FGFR1 translocation with concurrent myeloproliferative neoplasm, systemic mastocytosis, and lymphoblastic lymphoma: a case report. ( 29107667 )
2017
45
Response and progression on midostaurin in advanced systemic mastocytosis: KIT D816V and other molecular markers. ( 28424161 )
2017
46
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
47
Pre-emptive Evaluation of Venom Allergy in a Patient with Systemic Mastocytosis. ( 28902950 )
2017
48
A case of lymphocytic variant hypereosinophilic syndrome with sub-diagnostic systemic mastocytosis. ( 28401108 )
2017
49
Clonal reticulohistiocytosis of the skin and bone marrow associated with systemic mastocytosis and acute myeloid leukaemia. ( 28074480 )
2017
50
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

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
2 KIT NM_000222.2(KIT): c.2459A> G (p.Asp820Gly) single nucleotide variant Pathogenic rs121913682 GRCh38 Chromosome 4, 54733167: 54733167
3 KIT NM_000222.2(KIT): c.2459A> T (p.Asp820Val) single nucleotide variant Likely pathogenic rs121913682 GRCh38 Chromosome 4, 54733167: 54733167
4 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 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 CD2 FGFR1 IFNA2 JAK2 KIT PDGFRA
2
Show member pathways
13.34 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
3
Show member pathways
13.18 CD2 FGFR1 JAK2 KIT KITLG PDGFRA
4
Show member pathways
13.16 CD2 FGFR1 IFNA2 JAK2 KIT KITLG
5
Show member pathways
13.12 FGFR1 KIT KITLG PDGFRA PDGFRB
6
Show member pathways
13.09 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
7
Show member pathways
13.01 CD2 FGFR1 JAK2 KIT KITLG PDGFRA
8
Show member pathways
12.98 FGFR1 KIT KITLG PDGFRA PDGFRB
9
Show member pathways
12.91 FGFR1 KIT KITLG PDGFRA PDGFRB
10
Show member pathways
12.81 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
11
Show member pathways
12.8 FGFR1 KIT PDGFRA PDGFRB
12
Show member pathways
12.78 JAK2 KIT KITLG PDGFRA PDGFRB
13
Show member pathways
12.72 FGFR1 JAK2 PDGFRA PDGFRB
14
Show member pathways
12.72 FGFR1 KIT PDGFRA PDGFRB
15
Show member pathways
12.63 FGFR1 JAK2 PDGFRA PDGFRB
16 12.61 FGFR1 KIT KITLG PDGFRA PDGFRB
17
Show member pathways
12.56 FGFR1 KIT KITLG PDGFRA PDGFRB
18
Show member pathways
12.55 FGFR1 KIT KITLG PDGFRA PDGFRB
19
Show member pathways
12.53 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
20
Show member pathways
12.49 IFNA2 JAK2 PDGFRA PDGFRB
21 12.43 CD2 JAK2 KIT KITLG
22
Show member pathways
12.26 KIT KITLG PDGFRA PDGFRB
23 12.22 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
24
Show member pathways
12.05 JAK2 KIT KITLG
25 12.01 FGFR1 PDGFRA PDGFRB
26
Show member pathways
11.95 CD2 FGFR1 JAK2 KITLG
27
Show member pathways
11.94 FGFR1 PDGFRA PDGFRB
28 11.77 CD2 KIT KITLG
29 11.73 CD2 IFNA2 KIT KITLG
30 11.72 FGFR1 PDGFRA PDGFRB
31
Show member pathways
11.68 FGFR1 KIT PDGFRB
32
Show member pathways
11.53 KIT PDGFRA PDGFRB
33 11.37 FGFR1 PDGFRA PDGFRB
34 11.37 FGFR1 KIT PDGFRA PDGFRB
35 11.28 FGFR1 PDGFRA PDGFRB
36 11.27 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
37 11.02 PDGFRA PDGFRB
38 10.85 KIT KITLG
39 10.77 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 8.96 PDGFRA PDGFRB
2 receptor complex GO:0043235 8.92 FGFR1 KIT PDGFRA PDGFRB

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.95 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.9 FGFR1 KIT PDGFRA PDGFRB
3 cell migration GO:0016477 9.89 FGFR1 JAK2 PDGFRA PDGFRB
4 positive regulation of cell migration GO:0030335 9.88 JAK2 KIT PDGFRA PDGFRB
5 positive regulation of MAPK cascade GO:0043410 9.85 FGFR1 KIT PDGFRA PDGFRB
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.83 JAK2 KIT PDGFRA PDGFRB
7 male gonad development GO:0008584 9.82 KIT KITLG PDGFRB
8 cell chemotaxis GO:0060326 9.8 KIT PDGFRA PDGFRB
9 negative regulation of signal transduction GO:0009968 9.8 FGFR1 KIT PDGFRA PDGFRB
10 protein autophosphorylation GO:0046777 9.8 FGFR1 JAK2 KIT PDGFRA PDGFRB
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.78 IFNA2 JAK2 KIT
12 peptidyl-tyrosine phosphorylation GO:0018108 9.77 FGFR1 JAK2 KIT PDGFRA PDGFRB
13 positive regulation of kinase activity GO:0033674 9.76 FGFR1 KIT PDGFRA PDGFRB
14 phosphatidylinositol-mediated signaling GO:0048015 9.75 FGFR1 PDGFRA PDGFRB
15 positive regulation of MAP kinase activity GO:0043406 9.73 FGFR1 KIT KITLG PDGFRB
16 MAPK cascade GO:0000165 9.73 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
17 positive regulation of protein kinase B signaling GO:0051897 9.72 FGFR1 KIT KITLG PDGFRA PDGFRB
18 platelet-derived growth factor receptor signaling pathway GO:0048008 9.71 JAK2 PDGFRA PDGFRB
19 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.69 KIT PDGFRA PDGFRB
20 cardiac myofibril assembly GO:0055003 9.66 PDGFRA PDGFRB
21 embryonic hemopoiesis GO:0035162 9.65 KIT KITLG
22 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.65 JAK2 PDGFRB
23 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.63 PDGFRA PDGFRB
24 retina vasculature development in camera-type eye GO:0061298 9.63 PDGFRA PDGFRB
25 ectopic germ cell programmed cell death GO:0035234 9.62 KIT KITLG
26 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.57 PDGFRA PDGFRB
27 metanephric glomerular capillary formation GO:0072277 9.56 PDGFRA PDGFRB
28 phosphatidylinositol phosphorylation GO:0046854 9.55 FGFR1 KIT KITLG PDGFRA PDGFRB
29 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.35 FGFR1 JAK2 KIT PDGFRA PDGFRB
30 positive regulation of phospholipase C activity GO:0010863 8.92 FGFR1 KIT PDGFRA PDGFRB
31 cell differentiation GO:0030154 10.06 FGFR1 JAK2 KIT PDGFRA PDGFRB
32 phosphorylation GO:0016310 10.04 FGFR1 JAK2 KIT PDGFRA PDGFRB
33 protein phosphorylation GO:0006468 10.04 FGFR1 JAK2 KIT PDGFRA PDGFRB
34 negative regulation of apoptotic process GO:0043066 10.01 FGFR1 KIT KITLG PDGFRA PDGFRB

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.89 FGFR1 JAK2 KIT PDGFRA PDGFRB
2 protein kinase activity GO:0004672 9.88 FGFR1 JAK2 KIT PDGFRA PDGFRB
3 transmembrane signaling receptor activity GO:0004888 9.83 FGFR1 KIT PDGFRA PDGFRB
4 nucleotide binding GO:0000166 9.8 FGFR1 JAK2 KIT PDGFRA PDGFRB
5 MAP kinase kinase kinase activity GO:0004709 9.67 FGFR1 KIT PDGFRA PDGFRB
6 mitogen-activated protein kinase kinase binding GO:0031434 9.62 FGFR1 KIT PDGFRA PDGFRB
7 growth factor binding GO:0019838 9.61 KIT PDGFRA PDGFRB
8 phosphatidylinositol 3-kinase binding GO:0043548 9.56 JAK2 PDGFRB
9 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.56 FGFR1 KIT PDGFRA PDGFRB
10 platelet-derived growth factor receptor binding GO:0005161 9.55 PDGFRA PDGFRB
11 protein tyrosine kinase activity GO:0004713 9.55 FGFR1 JAK2 KIT PDGFRA PDGFRB
12 platelet-derived growth factor binding GO:0048407 9.51 PDGFRA PDGFRB
13 vascular endothelial growth factor binding GO:0038085 9.46 PDGFRA PDGFRB
14 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.35 FGFR1 KIT KITLG PDGFRA PDGFRB
15 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.1 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
16 protein binding GO:0005515 10.31 CD2 FGFR1 FIP1L1 HDC IFNA2 JAK2

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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