MCID: SYS004
MIFTS: 60

Systemic Mastocytosis

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Systemic Mastocytosis

MalaCards integrated aliases for Systemic Mastocytosis:

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

Classifications:



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 mastocytosis, systemic, is related to nephrolithiasis and indolent systemic mastocytosis, and has symptoms including headache, hepatomegaly and splenomegaly. 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 myeloid, and related phenotypes are Decreased viability and hematopoietic system

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 169)
id Related Disease Score Top Affiliating Genes
1 nephrolithiasis 30.1 JAK2 TET2
2 indolent systemic mastocytosis 12.1
3 aggressive systemic mastocytosis 12.1
4 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.1
5 smouldering systemic mastocytosis 12.0
6 metaphyseal chondrodysplasia, schmid type 11.4
7 sm-ahnmd 11.4
8 mast cell disease 11.3
9 mast-cell leukemia 11.2
10 corneal dystrophy, subepithelial mucinous 11.0
11 maculopapular cutaneous mastocytosis 10.8
12 mastocytic enterocolitis 10.8
13 monoclonal mast cell activation syndrome 10.8
14 dedifferentiated liposarcoma 10.6 KIT PDGFRA
15 retroperitoneal leiomyosarcoma 10.6 KIT PDGFRA
16 mercaptolactate-cysteine disulfiduria 10.6 KIT PDGFRA
17 brain stem infarction 10.6 KIT PDGFRA
18 acute pre-b-cell lymphoblastic leukemia 10.6 JAK2 KIT
19 thymus small cell carcinoma 10.6 KIT PDGFRA
20 punctate palmoplantar keratoderma type 2 10.6 KIT PDGFRA
21 breast adenoid cystic carcinoma 10.5 KIT PDGFRA
22 lung leiomyosarcoma 10.5 KIT PDGFRA
23 cough variant asthma 10.5 KIT KITLG
24 postsynaptic congenital myasthenic syndromes 10.5 JAK2 TET2
25 split hand/foot malformation x-linked 10.4 IFNA2 JAK2
26 fibrosarcoma of bone 10.4 KIT PDGFRA
27 basal ganglia calcification, idiopathic, 4 10.4 IFNA2 PDGFRB
28 filamentary keratitis 10.4 CD2 KIT
29 sarcomatoid mesothelioma 10.4 IFNA2 KIT PDGFRA
30 leukemia 10.4
31 exertional headache 10.4 KIT KITLG
32 vaginal yolk sac tumor 10.3 IFNA2 KIT
33 adult brainstem gliosarcoma 10.3 IFNA2 KIT KITLG
34 epidermolysis bullosa simplex-mcr 10.3 KIT KITLG
35 periventricular nodular heterotopia 3 10.3 KIT KITLG PDGFRA
36 basilar artery insufficiency 10.3 IFNA2 JAK2 TET2
37 afferent loop syndrome 10.3 JAK2 KITLG TET2
38 ovarian large-cell neuroendocrine carcinoma 10.2 FGFR1 KIT PDGFRA
39 histidine metabolism disease 10.2 KIT KITLG
40 central corneal ulcer 10.2 CD2 IFNA2 TET2
41 desmoplastic small round cell tumor 10.2 KIT PDGFRA PDGFRB
42 osteoporosis 10.2
43 myeloid leukemia 10.1
44 extraosseous osteosarcoma 10.1 KIT PDGFRA PDGFRB
45 dyserythropoietic anemia and thrombocytopenia 10.1 JAK2 KIT
46 adenosarcoma 10.1 KIT PDGFRA PDGFRB
47 rhabdoid cancer 10.1 CD2 KIT KITLG
48 myelofibrosis with myeloid metaplasia, somatic 10.1 IFNA2 JAK2 KIT TET2
49 papillary follicular thyroid adenocarcinoma 10.1 FIP1L1 PDGFRA
50 nephronophthisis 15 10.1 JAK2 PDGFRB TET2

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

44
id 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 FGFR1 HDC JAK2 KIT KITLG PDGFRA
4 embryo MP:0005380 9.91 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
5 integument MP:0010771 9.8 FGFR1 HDC JAK2 KIT KITLG PDGFRA
6 limbs/digits/tail MP:0005371 9.55 FGFR1 KIT KITLG PDGFRA PDGFRB
7 neoplasm MP:0002006 9.35 KIT KITLG PDGFRA TET2 JAK2
8 normal MP:0002873 9.17 KIT PDGFRA PDGFRB TET2 CD2 FGFR1

Drugs & Therapeutics for Systemic Mastocytosis

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

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

Interventional clinical trials:

(show all 35)

id 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 Midostaurin in Indolent Systemic Mastocytosis Unknown status NCT01920204 Phase 2 Midostaurin,
6 Evaluation of Response of Dasatinib to Treat Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
7 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Unknown status NCT00555581 Phase 2 Imatinib Mesylate
8 Everolimus (RAD001) as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
9 Ontak (Denileukin Diftitox) in Patients With Systemic Mastocytosis (SM) Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
10 Treatment of Indolent Systemic Mastocytosis With PA101 Completed NCT02478957 Phase 2 PA101;Placebo
11 17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Systemic Mastocytosis Completed NCT00132015 Phase 2 tanespimycin
12 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2 thalidomide
13 Stem Cell Transplantation to Treat Systemic Mastocytosis Completed NCT00006413 Phase 2
14 A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related Cancers Completed NCT00109707 Phase 1, Phase 2 Nilotinib
15 Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
16 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
17 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
18 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Recruiting NCT02415608 Phase 2 Ibrutinib
19 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia Recruiting NCT01807598 Phase 2 brentuximab vedotin
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 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (advSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 BLU-285
26 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Recruiting NCT02808793 Phase 1 AK002
27 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618
28 Use of Tamoxifen in Systemic Mastocytosis Unknown status NCT01334996
29 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
30 Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy Individuals Completed NCT00001760
31 Molecular Mechanisms and Diagnosis of Mastocytosis Completed NCT00336076
32 Cause and Natural Course of Pediatric-Onset Mastocytosis Completed NCT00050193
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

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, Myeloid, Liver, Small Intestine, Spleen, Skin

Publications for Systemic Mastocytosis

Articles related to Systemic Mastocytosis:

(show top 50) (show all 651)
id Title Authors Year
1
Omalizumab prevents anaphylaxis and improves symptoms in systemic mastocytosis: Efficacy and safety observations. ( 28662309 )
2017
2
Acute Myeloid Leukemia With Inv(16)(p13q22) Associated With Hidden Systemic Mastocytosis: Case Report and Review of Literature. ( 28579854 )
2017
3
Prevalence and risk factors for fragility fracture in systemic mastocytosis. ( 28919366 )
2017
4
In utero presentation of aggressive systemic mastocytosis in a neonate. ( 28369700 )
2017
5
Longitudinal Evaluation of Bone Mineral Density and Bone Metabolism Markers in Patients with Indolent Systemic Mastocytosis Without Osteoporosis. ( 27743017 )
2017
6
Management of poorly controlled indolent systemic mastocytosis using narrowband UVB phototherapy. ( 28632811 )
2017
7
Pre-emptive Evaluation of Venom Allergy in a Patient with Systemic Mastocytosis. ( 28902950 )
2017
8
Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial. ( 28744009 )
2017
9
CCL2 is a KIT D816V-dependent modulator of the bone marrow microenvironment in systemic mastocytosis. ( 27856463 )
2017
10
SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis. ( 28663576 )
2017
11
Tyrosine Kinase Inhibitors in the Treatment of Eosinophilic Neoplasms and Systemic Mastocytosis. ( 28673393 )
2017
12
A new therapeutic advance for symptomatic systemic mastocytosis? ( 28069280 )
2017
13
Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome. ( 28439288 )
2017
14
Systemic mastocytosis associated with acute myeloid leukaemia. ( 28826833 )
2017
15
Routine abdominal ultrasonography has limited value in the care for patients with indolent systemic mastocytosis. ( 28486845 )
2017
16
R634W KIT Mutation in an Adult With Systemic Mastocytosis. ( 28520972 )
2017
17
Response and progression on midostaurin in advanced systemic mastocytosis: KIT D816V and other molecular markers. ( 28424161 )
2017
18
A case of lymphocytic variant hypereosinophilic syndrome with sub-diagnostic systemic mastocytosis. ( 28401108 )
2017
19
Clonal reticulohistiocytosis of the skin and bone marrow associated with systemic mastocytosis and acute myeloid leukaemia. ( 28074480 )
2017
20
Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study. ( 28069279 )
2017
21
Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report. ( 28181948 )
2017
22
Dystonia as an unusual presentation of systemic mastocytosis: possible link between histamine release and movement disorders. ( 28757371 )
2017
23
Natural history and treatment of cutaneous and systemic mastocytosis. ( 28770635 )
2017
24
Midostaurin (Rydapt) for AML and advanced systemic mastocytosis. ( 28787746 )
2017
25
Prospective evaluation of the diagnostic value of sensitive KIT D816V mutation analysis of blood in adults with suspected systemic mastocytosis. ( 28432683 )
2017
26
Midostaurin in Advanced Systemic Mastocytosis. ( 27355555 )
2016
27
Patient reported disease-specific quality of life and symptom severity in systemic mastocytosis. ( 27089859 )
2016
28
Resolution of osteosclerosis after alloHCT in systemic mastocytosis. ( 27512733 )
2016
29
Ileal Pouch Biopsy Triggers Investigation and Diagnosis of Systemic Mastocytosis. ( 27807556 )
2016
30
Association between rheumatoid arthritis and systemic mastocytosis: a case report and literature review. ( 27507661 )
2016
31
Treatment of CD30-positive systemic mastocytosis with brentuximab vedotin. ( 26994848 )
2016
32
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
33
Beneficial effects of JAK inhibitor therapy in Systemic Mastocytosis. ( 26847591 )
2016
34
Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients. ( 27060898 )
2016
35
Systemic mastocytosis: A cohort study on clinical characteristics of 136 patients in a large tertiary centre. ( 26809706 )
2016
36
Bone marrow tryptase as a possible diagnostic criterion for adult systemic mastocytosis. ( 26767494 )
2016
37
A unique presentation of pulmonary disease in advanced systemic mastocytosis, proven by the presence of mast cells in bronchoalveolar lavage: a case report. ( 27737699 )
2016
38
Systemic mastocytosis presenting as cardiac tamponade with CD25(+) pericardial mast cells. ( 27014452 )
2016
39
Comparison of gDNA-based versus mRNA-based KIT D816V mutation analysis reveals large differences between blood andA bone marrow in systemic mastocytosis. ( 27196380 )
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
Systemic mastocytosis in adults: 2017 update on diagnosis, risk stratification and management. ( 27762455 )
2016
42
Kounis syndrome revisited: Systemic mastocytosis and severe coronary artery disease. ( 27040990 )
2016
43
Consensus Opinion on Allogeneic Hematopoietic Cell Transplantation in Advanced Systemic Mastocytosis. ( 27131865 )
2016
44
Osteoporotic spinal burst fracture in a young adult as first presentation of systemic mastocytosis. ( 27141048 )
2016
45
KIT D816V-mutated bone marrow mesenchymal stem cells in indolent systemic mastocytosis are associated with disease progression. ( 26622064 )
2016
46
Systemic mastocytosis: Evolving lessons from large patient registry datasets. ( 27102564 )
2016
47
Systemic mastocytosis: A rare cause of non-cirrhotic portal hypertension. ( 27605890 )
2016
48
Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis. ( 27355533 )
2016
49
Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. ( 27694501 )
2016
50
Risk of solid cancer, cardiovascular disease, anaphylaxis, osteoporosis and fractures in patients with systemic mastocytosis: A nationwide population-based study. ( 27428296 )
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 29)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 CD2 FGFR1 IFNA2 JAK2 KIT KITLG
2
Show member pathways
13.33 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
12.91 FGFR1 KIT KITLG PDGFRA PDGFRB
8
Show member pathways
12.76 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
9
Show member pathways
12.71 JAK2 KIT KITLG PDGFRA PDGFRB
10
Show member pathways
12.56 FGFR1 KIT KITLG PDGFRA PDGFRB
11
Show member pathways
12.55 FGFR1 KIT KITLG PDGFRA PDGFRB
12 12.45 FGFR1 KIT KITLG PDGFRA PDGFRB
13 12.39 CD2 JAK2 KIT KITLG
14
Show member pathways
12.38 FGFR1 JAK2 KIT PDGFRA PDGFRB
15
Show member pathways
12.25 KIT KITLG PDGFRA PDGFRB
16 12.03 FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
17
Show member pathways
12.02 JAK2 KIT KITLG
18 11.77 CD2 KIT KITLG
19 11.7 FGFR1 PDGFRA PDGFRB
20
Show member pathways
11.67 FGFR1 KIT PDGFRB
21 11.63 CD2 IFNA2 KIT KITLG
22 11.59 FGFR1 KITLG PDGFRA PDGFRB
23
Show member pathways
11.59 KIT PDGFRA PDGFRB
24 11.32 FGFR1 PDGFRA PDGFRB
25 11.27 FGFR1 KIT PDGFRA PDGFRB
26 11.25 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
27 10.99 PDGFRA PDGFRB
28 10.83 KIT KITLG
29 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 30)
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 9.86 JAK2 KIT PDGFRA PDGFRB
4 MAPK cascade GO:0000165 9.85 FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
5 protein autophosphorylation GO:0046777 9.83 FGFR1 JAK2 KIT PDGFRA PDGFRB
6 cytokine-mediated signaling pathway GO:0019221 9.82 IFNA2 JAK2 KIT
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.81 KIT PDGFRA PDGFRB
8 male gonad development GO:0008584 9.8 KIT KITLG PDGFRB
9 peptidyl-tyrosine phosphorylation GO:0018108 9.8 FGFR1 JAK2 KIT PDGFRA PDGFRB
10 cell chemotaxis GO:0060326 9.76 KIT PDGFRA PDGFRB
11 positive regulation of MAP kinase activity GO:0043406 9.76 FGFR1 KIT KITLG PDGFRB
12 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.75 IFNA2 JAK2 KIT
13 cell migration GO:0016477 9.74 FGFR1 JAK2 PDGFRB
14 phosphatidylinositol-mediated signaling GO:0048015 9.72 FGFR1 KIT KITLG PDGFRA PDGFRB
15 platelet-derived growth factor receptor signaling pathway GO:0048008 9.7 JAK2 PDGFRA PDGFRB
16 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.69 KIT PDGFRA PDGFRB
17 phosphatidylinositol phosphorylation GO:0046854 9.65 FGFR1 KIT KITLG PDGFRA PDGFRB
18 embryonic hemopoiesis GO:0035162 9.64 KIT KITLG
19 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.63 JAK2 PDGFRB
20 cardiac myofibril assembly GO:0055003 9.62 PDGFRA PDGFRB
21 retina vasculature development in camera-type eye GO:0061298 9.61 PDGFRA PDGFRB
22 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.6 PDGFRA PDGFRB
23 ectopic germ cell programmed cell death GO:0035234 9.59 KIT KITLG
24 metanephric glomerular capillary formation GO:0072277 9.55 PDGFRA PDGFRB
25 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.55 FGFR1 KIT KITLG PDGFRA PDGFRB
26 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.54 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 10.02 FGFR1 JAK2 KIT PDGFRA PDGFRB
30 protein phosphorylation GO:0006468 10.01 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 9.43 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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