SMCD
MCID: SYS004
MIFTS: 60

Systemic Mastocytosis (SMCD) malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Systemic Mastocytosis

Aliases & Descriptions for Systemic Mastocytosis:

Name: Systemic Mastocytosis 38 12 50 14
Systemic Mast Cell Disease 50 29
Mastocytosis, Systemic 42 69
Corneal Dystrophy, Subepithelial Mucinous 69
Smcd - Systemic Mast Cell Disease 12
Systemic Tissue Mast Cell Disease 12
Mastocytosis Systemic 52
Smcd 50

Classifications:



External Ids:

Disease Ontology 12 DOID:349
MeSH 42 D034721
NCIt 47 C9235
UMLS 69 C0221013

Summaries for Systemic Mastocytosis

NIH Rare Diseases : 50 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 systemic mast cell disease, is related to indolent systemic mastocytosis and aggressive systemic mastocytosis, and has symptoms including arthralgia, myalgia and headache. 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 Imatinib Mesylate and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related phenotypes are Decreased viability and cellular

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 165)
id Related Disease Score Top Affiliating Genes
1 indolent systemic mastocytosis 12.1
2 aggressive systemic mastocytosis 12.1
3 smouldering systemic mastocytosis 12.0
4 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.0
5 mastocytosis 11.6
6 corneal dystrophy, subepithelial mucinous 11.5
7 sm-ahnmd 11.5
8 metaphyseal chondrodysplasia, schmid type 11.4
9 mast-cell leukemia 11.2
10 maculopapular cutaneous mastocytosis 10.8
11 monoclonal mast cell activation syndrome 10.8
12 leukemia 10.4
13 invasive mole 10.2 KIT PDGFRA
14 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.2 KIT PDGFRA
15 freemartinism 10.2 CD2 KIT
16 larynx leiomyosarcoma 10.2 KIT PDGFRA
17 high grade b-cell lymphoma with rearrangements of myc and bcl2 and/or bcl6 10.2 KIT KITLG
18 cough variant asthma 10.2 KIT KITLG
19 acute respiratory distress syndrome 10.2 JAK2 KIT
20 congenital disorder of glycosylation, type iq 10.2 IFNA2 KIT TET2
21 hemangioma of peripheral nerve 10.2 IFNA2 KIT KITLG
22 osteoporosis 10.2
23 malignant epithelial mesothelioma 10.2 IFNA2 KIT PDGFRA
24 rectum leiomyoma 10.2 KIT PDGFRA
25 osteogenesis imperfecta, type viii 10.2 JAK2 TET2
26 spondylocostal dysostosis 2 10.2 IFNA2 JAK2
27 pustulosis palmaris et plantaris 10.1 KIT PDGFRA
28 restrictive cardiomyopathy 10.1 FIP1L1 PDGFRA
29 dentinogenesis imperfecta, shields type ii 10.1 KIT KITLG PDGFRA
30 lagophthalmos 10.1 FIP1L1 PDGFRA
31 regional odontodysplasia 10.1 ASXL1 TET2
32 pericoronitis 10.1 HDC KIT KITLG
33 kidney rhabdoid cancer 10.1 CD2 KIT KITLG
34 myeloid leukemia 10.1
35 weaver syndrome 10.1 FIP1L1 PDGFRA
36 kidney clear cell sarcoma 10.1 KIT PDGFRA
37 intracranial sinus thrombosis 10.1 FIP1L1 KIT KITLG
38 cerebral arterial disease 10.1 KIT PDGFRA
39 agammaglobulinemia 8, autosomal dominant 10.1 JAK2 KIT
40 intestinal impaction 10.1 JAK2 KITLG TET2
41 lymphoma 10.1
42 urticaria pigmentosa 10.1
43 urticaria 10.1
44 myofibromatosis, infantile, 1 10.1 IFNA2 PDGFRB
45 oral leukoedema 10.1 FGFR1 KIT PDGFRA
46 neuromyelitis optica 10.0 IFNA2 JAK2 KIT TET2
47 fragile x-associated tremor/ataxia syndrome 10.0 KIT PDGFRA
48 von hippel anomaly 10.0 ASXL1 JAK2 TET2
49 thrombophilia due to activated protein c resistance 10.0 FIP1L1 JAK2 PDGFRA
50 dfnb1 10.0 KIT PDGFRA PDGFRB

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

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

26
id 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 PDGFRB PDGFRA
5 Decreased viability GR00221-A-4 9.4 PDGFRB PDGFRA
6 Decreased viability GR00301-A 9.4 KIT
7 Decreased viability GR00342-S-1 9.4 PDGFRB

MGI Mouse Phenotypes related to Systemic Mastocytosis:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 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 FGFR1 HDC JAK2 KIT KITLG PDGFRA
5 immune system MP:0005387 10.02 ASXL1 FGFR1 HDC JAK2 KIT KITLG
6 craniofacial MP:0005382 9.99 ASXL1 FGFR1 KIT KITLG PDGFRA PDGFRB
7 digestive/alimentary MP:0005381 9.97 PDGFRB ASXL1 FGFR1 KIT KITLG PDGFRA
8 embryo MP:0005380 9.95 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
9 integument MP:0010771 9.87 PDGFRB FGFR1 HDC JAK2 KIT KITLG
10 limbs/digits/tail MP:0005371 9.65 FGFR1 KIT KITLG PDGFRA PDGFRB
11 neoplasm MP:0002006 9.63 ASXL1 JAK2 KIT KITLG PDGFRA TET2
12 normal MP:0002873 9.5 CD2 FGFR1 JAK2 KIT PDGFRA PDGFRB
13 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 top 50) (show all 71)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Imatinib Mesylate Phase 4,Phase 2,Phase 1 123596
2 Protein Kinase Inhibitors Phase 4,Phase 2,Phase 1
3
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
4 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
5 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
6
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
7
Sunitinib Approved, Investigational Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
8
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
9
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
10
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
11
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
12
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
13
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
14
Vidarabine Approved Phase 2,Phase 1 24356-66-9 32326 21704
15
rituximab Approved Phase 2 174722-31-7 10201696
16
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
17
alemtuzumab Approved, Investigational Phase 2 216503-57-0
18
Everolimus Approved Phase 2 159351-69-6 6442177
19
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
20
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
21 Staurosporine Experimental Phase 2 62996-74-1
22 Specific substance maruyama Phase 2
23 Angiogenesis Inhibitors Phase 2,Phase 1
24 Angiogenesis Modulating Agents Phase 2,Phase 1
25 4'-N-benzoylstaurosporine Phase 2
26 Interleukin-2 Phase 2
27 Analgesics Phase 2
28 Albumin-Bound Paclitaxel Phase 2
29 Cromolyn Sodium Phase 2
30 Analgesics, Non-Narcotic Phase 2
31 Dermatologic Agents Phase 2,Phase 1
32 Peripheral Nervous System Agents Phase 2
33 Vidarabine Phosphate Phase 2,Phase 1
34 Anti-Bacterial Agents Phase 2,Phase 1
35 Immunoglobulins Phase 2
36 Anti-Infective Agents Phase 2,Phase 1
37 Antibodies, Monoclonal Phase 2
38 Antifungal Agents Phase 2,Phase 1
39 Antimetabolites Phase 2,Phase 1
40 Antibiotics, Antitubercular Phase 2,Phase 1
41 Antimetabolites, Antineoplastic Phase 2,Phase 1
42 Antibodies Phase 2
43 Antirheumatic Agents Phase 2,Phase 1
44 Calcineurin Inhibitors Phase 2,Phase 1
45 Antiviral Agents Phase 2,Phase 1
46 tyrosine Nutraceutical Phase 2
47
Tamoxifen Approved 10540-29-1 2733526
48
Iron Approved 7439-89-6 23925
49
Ganciclovir Approved, Investigational 82410-32-0 3454
50
Foscarnet Approved 63585-09-1, 4428-95-9 3415

Interventional clinical trials:

(show all 49)
id Name Status NCT ID Phase
1 Imatinib in KIT-negative Systemic Mastocytosis Completed NCT01297777 Phase 4
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
3 Study on Mastocytosis for Rupatadine Treatment Completed NCT01481909 Phase 2, Phase 3
4 Cladribine Plus Pegylated Interpheron Alfa-2a in Systemic Mastocytosis Recruiting NCT01602939 Phase 2, Phase 3
5 Midostaurin in Indolent Systemic Mastocytosis Unknown status NCT01920204 Phase 2
6 Evaluation of Response of Dasatinib to Treat Mastocytosis Unknown status NCT00979160 Phase 2
7 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Unknown status NCT00555581 Phase 2
8 Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Unknown status NCT01824615 Phase 2
9 Everolimus (RAD001) as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2
10 Ontak (Denileukin Diftitox) in Patients With Systemic Mastocytosis (SM) Completed NCT00493129 Phase 2
11 Treatment of Indolent Systemic Mastocytosis With PA101 Completed NCT02478957 Phase 2
12 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2
13 17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Systemic Mastocytosis Completed NCT00132015 Phase 2
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
16 Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Completed NCT00831974 Phase 2
17 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2
18 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2
19 Phase II Trial of Prophylactic Rituximab Therapy for Prevention of CGVHD Completed NCT00186628 Phase 2
20 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by Cyclosporine and Mycophenolate Mofetil in Treating Patients Who Are Undergoing Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00118352 Phase 2
21 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Recruiting NCT02415608 Phase 2
22 SL-401 in Advanced, High Risk Myeloproliferative Neoplasms (Systemic Mastocytosis, Advanced Symptomatic Hypereosinoophic Disorder, Myelofibrosis, Chronic Myelomonocytic Leukemia) Recruiting NCT02268253 Phase 1, Phase 2
23 Phase II Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia Active, not recruiting NCT00233454 Phase 2
24 Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia Active, not recruiting NCT00782067 Phase 2
25 Fludarabine Phosphate, Low-Dose Total-Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine, Mycophenolate Mofetil, Donor Lymphocyte Infusion in Treating Patients With Hematopoietic Cancer Active, not recruiting NCT00006251 Phase 1, Phase 2
26 Obatoclax for Systemic Mastocytosis Terminated NCT00918931 Phase 2
27 Sunitinib in Treating Patients With Idiopathic Myelofibrosis Terminated NCT00387426 Phase 2
28 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1
29 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1
30 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (advSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1
31 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Recruiting NCT02808793 Phase 1
32 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1
33 Use of Tamoxifen in Systemic Mastocytosis Unknown status NCT01334996
34 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
35 Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy Individuals Completed NCT00001760
36 Molecular Mechanisms and Diagnosis of Mastocytosis Completed NCT00336076
37 Cause and Natural Course of Pediatric-Onset Mastocytosis Completed NCT00050193
38 Fludarabine and Total-Body Irradiation Followed By Donor Stem Cell Transplant and Cyclosporine and Mycophenolate Mofetil in Treating HIV-Positive Patients With or Without Cancer Completed NCT00112593
39 Infection Prophylaxis and Management in Treating Cytomegalovirus (CMV) Infection in Patients With Hematologic Malignancies Previously Treated With Donor Stem Cell Transplant Completed NCT01199562
40 Deferasirox in Treating Iron Overload Caused By Blood Transfusions in Patients With Hematologic Malignancies Completed NCT01273766
41 Diagnostic Value of Bone Marrow Tryptase in Systemic Mastocytosis Recruiting NCT02441166
42 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia Recruiting NCT01807598
43 Study of Mast Cell Precursors Recruiting NCT00001756
44 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254
45 Bioelectrical Impedance Measurement for Predicting Treatment Outcome in Patients With Newly Diagnosed Acute Leukemia Recruiting NCT01869777
46 Collecting and Storing Malignant, Borderline Malignant Neoplasms, and Related Samples From Young Patients With Cancer Recruiting NCT00898079
47 Pregnancy and Medically Assisted Conception in Rare Diseases Recruiting NCT02450396
48 Massage Therapy Given by Caregiver in Treating Quality of Life of Young Patients Undergoing Treatment for Cancer Active, not recruiting NCT01053494
49 Fludarabine Phosphate and Total-Body Radiation Followed by Donor Peripheral Blood Stem Cell Transplant and Immunosuppression in Treating Patients With Hematologic Malignancies Active, not recruiting NCT00014235

Search NIH Clinical Center for Systemic Mastocytosis

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:

id Genetic test Affiliating Genes
1 Mast Cell Disease, Systemic 29

Anatomical Context for Systemic Mastocytosis

MalaCards organs/tissues related to Systemic Mastocytosis:

39
Bone, Bone Marrow, Liver, Spleen, Small Intestine, Myeloid, Skin

Publications for Systemic Mastocytosis

Articles related to Systemic Mastocytosis:

(show top 50) (show all 630)
id Title Authors Year
1
CCL2 is a KIT D816V-dependent modulator of the bone marrow microenvironment in systemic mastocytosis. ( 27856463 )
2017
2
A new therapeutic advance for symptomatic systemic mastocytosis? ( 28069280 )
2017
3
Clonal reticulohistiocytosis of the skin and bone marrow associated with systemic mastocytosis and acute myeloid leukaemia. ( 28074480 )
2017
4
Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study. ( 28069279 )
2017
5
Longitudinal Evaluation of Bone Mineral Density and Bone Metabolism Markers in Patients with Indolent Systemic Mastocytosis Without Osteoporosis. ( 27743017 )
2017
6
Imatinib in systemic mastocytosis: a phase IV clinical trial in patients lacking exon 17 KIT mutations and review of the literature. ( 27448981 )
2016
7
Well-differentiated systemic mastocytosis showed excellent clinical response to imatinib in the absence of known molecular genetic abnormalities: A case report. ( 27741105 )
2016
8
Comparison of gDNA-based versus mRNA-based KIT D816V mutation analysis reveals large differences between blood andA bone marrow in systemic mastocytosis. ( 27196380 )
2016
9
A case of systemic mastocytosis diagnosed on colonic biopsy. ( 27772953 )
2016
10
Response of patients with indolent systemic mastocytosis to tamoxifen citrate. ( 26612479 )
2016
11
Histone deacetylase inhibitor SAHA mediates mast cell death and epigenetic silencing of constitutively active D816V KIT in systemic mastocytosis. ( 28038453 )
2016
12
Analytical and clinical validation of an LC-MS/MS method for urine leukotriene E4: A marker of systemic mastocytosis. ( 26908217 )
2016
13
Ileal Pouch Biopsy Triggers Investigation and Diagnosis of Systemic Mastocytosis. ( 27807556 )
2016
14
Kounis syndrome and systemic mastocytosis in a 52-year-old man having surgery. ( 27486207 )
2016
15
Systemic Mastocytosis Causing Refractory Pruritus in a Liver Disease Patient. ( 27921051 )
2016
16
Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. ( 27694501 )
2016
17
Systemic Mastocytosis as an Unconventional Cause of Variceal Bleeding: Think Outside the Box. ( 27433408 )
2016
18
Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients. ( 27060898 )
2016
19
Kounis syndrome revisited: Systemic mastocytosis and severe coronary artery disease. ( 27040990 )
2016
20
Systemic mastocytosis presenting as occupational IgE-mediated anaphylaxis to pine processionary caterpillar. ( 27474119 )
2016
21
Bone marrow tryptase as a possible diagnostic criterion for adult systemic mastocytosis. ( 26767494 )
2016
22
The Basophil Activation Test Is Not a Useful Screening Tool for Hymenoptera Venom-Related Anaphylaxis in Patients with Systemic Mastocytosis. ( 27055231 )
2016
23
Risk of solid cancer, cardiovascular disease, anaphylaxis, osteoporosis and fractures in patients with systemic mastocytosis: A nationwide population-based study. ( 27428296 )
2016
24
Association between rheumatoid arthritis and systemic mastocytosis: a case report and literature review. ( 27507661 )
2016
25
Consensus Opinion on Allogeneic Hematopoietic Cell Transplantation in Advanced Systemic Mastocytosis. ( 27131865 )
2016
26
Systemic mastocytosis: A cohort study on clinical characteristics of 136 patients in a large tertiary centre. ( 26809706 )
2016
27
Systemic mastocytosis with generalised skin involvement. ( 27745878 )
2016
28
Clinicopathological characteristics of systemic mastocytosis in the intestine. ( 27391777 )
2016
29
Systemic Mastocytosis with Smoldering Multiple Myeloma: Report of a Case. ( 27293930 )
2016
30
Improving prognostic tools in systemic mastocytosis: Insights from mutations. ( 27397606 )
2016
31
Prostaglandin D2 metabolites as a biomarker of in vivo mast cell activation in systemic mastocytosis and rheumatoid arthritis. ( 27042302 )
2016
32
Multiple vertebral fractures in young man as first manifestation of systemic mastocytosis. ( 26975512 )
2016
33
'Childhood systemic mastocytosis associated with t (8; 21) (q22; q22) acute myeloid leukemia'. ( 27510692 )
2016
34
Beneficial effects of JAK inhibitor therapy in Systemic Mastocytosis. ( 26847591 )
2016
35
Systemic Mastocytosis with Associated Clonal Hematological Non-Mast Cell Lineage Disorder (MDS-RCMD): A Difficult Disease to Diagnose and Treat. ( 27408369 )
2016
36
Impact of centralized evaluation of bone marrow histology in systemic mastocytosis. ( 26914980 )
2016
37
Systemic mastocytosis presenting as cardiac tamponade with CD25(+) pericardial mast cells. ( 27014452 )
2016
38
A new humanized in vivo model of KIT D816V+ advanced systemic mastocytosis monitored using a secreted luciferase. ( 27783996 )
2016
39
CD123 immunostaining patterns in systemic mastocytosis: differential expression in disease subgroups and potential prognostic value. ( 26678095 )
2016
40
Splenomegaly, elevated alkaline phosphatase and mutations in the SRSF2/ASXL1/RUNX1 gene panel are strong adverse prognostic markers in patients with systemic mastocytosis. ( 27416984 )
2016
41
A 26-Year-Old Female with Systemic Mastocytosis with Associated Myeloid Neoplasm with Eosinophilia and Abnormalities of PDGFRB, t(4;5)(q21;q33). ( 27648315 )
2016
42
Endocrine manifestations of systemic mastocytosis in bone. ( 27239674 )
2016
43
Resolution of osteosclerosis after alloHCT in systemic mastocytosis. ( 27512733 )
2016
44
Next-generation sequencing in systemic mastocytosis: Derivation of a mutation-augmented clinical prognostic model for survival. ( 27214377 )
2016
45
Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis. ( 27355533 )
2016
46
Midostaurin in Advanced Systemic Mastocytosis. ( 27355555 )
2016
47
Ruxolitinib improves symptoms and quality of life in a patient with systemic mastocytosis. ( 26855781 )
2016
48
Osteoporotic spinal burst fracture in a young adult as first presentation of systemic mastocytosis. ( 27141048 )
2016
49
KIT D816V-mutated bone marrow mesenchymal stem cells in indolent systemic mastocytosis are associated with disease progression. ( 26622064 )
2016
50
A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia. ( 27781377 )
2016

Variations for Systemic Mastocytosis

ClinVar genetic disease variations for Systemic Mastocytosis:

6
id 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 31)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 CD2 FGFR1 IFNA2 JAK2 KIT KITLG
2
Show member pathways
13.34 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
3
Show member pathways
13.23 CD2 FGFR1 JAK2 KIT KITLG PDGFRA
4
Show member pathways
13.16 CD2 FGFR1 IFNA2 JAK2 KIT KITLG
5
Show member pathways
13.09 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
6
Show member pathways
12.98 CD2 FGFR1 JAK2 KIT KITLG PDGFRA
7
Show member pathways
12.96 FGFR1 KIT KITLG PDGFRA PDGFRB
8
Show member pathways
12.91 FGFR1 KIT KITLG PDGFRA PDGFRB
9
Show member pathways
12.87 FGFR1 JAK2 KIT PDGFRA PDGFRB
10
Show member pathways
12.76 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
11
Show member pathways
12.73 JAK2 KIT KITLG PDGFRA PDGFRB
12
Show member pathways
12.56 FGFR1 KIT KITLG PDGFRA PDGFRB
13
Show member pathways
12.55 FGFR1 KIT KITLG PDGFRA PDGFRB
14 12.45 FGFR1 KIT KITLG PDGFRA PDGFRB
15 12.39 CD2 JAK2 KIT KITLG
16
Show member pathways
12.24 KIT KITLG PDGFRA PDGFRB
17
Show member pathways
12.04 FGFR1 PDGFRA PDGFRB
18
Show member pathways
12.03 JAK2 KIT KITLG
19 12.03 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
20 11.77 CD2 KIT KITLG
21 11.7 FGFR1 PDGFRA PDGFRB
22
Show member pathways
11.67 FGFR1 KIT PDGFRB
23 11.63 CD2 IFNA2 KIT KITLG
24 11.59 FGFR1 KITLG PDGFRA PDGFRB
25
Show member pathways
11.59 KIT PDGFRA PDGFRB
26 11.32 FGFR1 PDGFRA PDGFRB
27 11.27 FGFR1 KIT PDGFRA PDGFRB
28 11.25 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
29 11 PDGFRA PDGFRB
30 10.83 KIT KITLG
31 10.76 PDGFRA PDGFRB

GO Terms for Systemic Mastocytosis

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

id 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 35)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.97 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
2 positive regulation of cell proliferation GO:0008284 9.95 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
3 positive regulation of cell migration GO:0030335 9.87 JAK2 KIT PDGFRA PDGFRB
4 MAPK cascade GO:0000165 9.85 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
5 cell migration GO:0016477 9.84 FGFR1 JAK2 PDGFRB
6 cytokine-mediated signaling pathway GO:0019221 9.84 IFNA2 JAK2 KIT
7 protein autophosphorylation GO:0046777 9.83 FGFR1 JAK2 KIT PDGFRA PDGFRB
8 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.82 KIT PDGFRA PDGFRB
9 male gonad development GO:0008584 9.81 KIT KITLG PDGFRB
10 peptidyl-tyrosine phosphorylation GO:0018108 9.8 FGFR1 JAK2 KIT PDGFRA PDGFRB
11 hemopoiesis GO:0030097 9.79 ASXL1 KIT TET2
12 cell chemotaxis GO:0060326 9.77 KIT PDGFRA PDGFRB
13 positive regulation of MAP kinase activity GO:0043406 9.76 FGFR1 KIT KITLG PDGFRB
14 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.75 IFNA2 JAK2 KIT
15 phosphatidylinositol-mediated signaling GO:0048015 9.72 FGFR1 KIT KITLG PDGFRA PDGFRB
16 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.71 IFNA2 JAK2 KIT
17 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.7 KIT PDGFRA PDGFRB
18 platelet-derived growth factor receptor signaling pathway GO:0048008 9.69 JAK2 PDGFRA PDGFRB
19 homeostasis of number of cells GO:0048872 9.66 ASXL1 TET2
20 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.65 JAK2 KIT
21 embryonic hemopoiesis GO:0035162 9.65 KIT KITLG
22 phosphatidylinositol phosphorylation GO:0046854 9.65 FGFR1 KIT KITLG PDGFRA PDGFRB
23 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.64 JAK2 PDGFRB
24 cardiac myofibril assembly GO:0055003 9.63 PDGFRA PDGFRB
25 retina vasculature development in camera-type eye GO:0061298 9.61 PDGFRA PDGFRB
26 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.61 PDGFRA PDGFRB
27 ectopic germ cell programmed cell death GO:0035234 9.6 KIT KITLG
28 myeloid progenitor cell differentiation GO:0002318 9.58 KIT TET2
29 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.56 PDGFRA PDGFRB
30 metanephric glomerular capillary formation GO:0072277 9.55 PDGFRA PDGFRB
31 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.55 FGFR1 KIT KITLG PDGFRA PDGFRB
32 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.35 FGFR1 JAK2 KIT PDGFRA PDGFRB
33 positive regulation of phospholipase C activity GO:0010863 8.92 FGFR1 KIT PDGFRA PDGFRB
34 phosphorylation GO:0016310 10.03 FGFR1 JAK2 KIT PDGFRA PDGFRB
35 protein phosphorylation GO:0006468 10.02 FGFR1 JAK2 KIT PDGFRA PDGFRB

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

(show all 12)
id 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 9.8 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 9.46 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 10.21 ASXL1 CD2 FGFR1 FIP1L1 HDC IFNA2

Sources for Systemic Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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