MCID: MST009
MIFTS: 56

Mastocytosis malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Mastocytosis

Aliases & Descriptions for Mastocytosis:

Name: Mastocytosis 50 29 52 69
Mast Cell Disease 50

Classifications:



External Ids:

ICD10 33 Q82.2

Summaries for Mastocytosis

NIH Rare Diseases : 50 mastocytosis is a condition that occurs when mast cells accumulate in skin and/or internal organs such as the liver, spleen, bone marrow, and small intestines. the signs and symptoms vary based on which part(s) of the body are affected. there are two main forms of mastocytosis: cutaneous and systemic. cutaneous mastocytosis only affects the skin and is usually diagnosed in children. systemic mastocytosis affects more than one part of the body and is usually diagnosed in adults. it is usually caused by changes (mutations) in the kit gene. most cases are caused by somatic mutations which are not inherited or passed on to the next generation; however, it can rarely affect more than one family member. treatment is based on the signs and symptoms present in each person. for more specific information regarding the symptoms, diagnosis, treatment and/or prognosis of systemic mastocytosis and cutaneous mastocytosis, please click on the link. last updated: 6/18/2015

MalaCards based summary : Mastocytosis, also known as mast cell disease, is related to gastrointestinal stromal tumor and systemic mastocytosis, and has symptoms including pruritus, fatigue and diarrhea. An important gene associated with Mastocytosis is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and Apoptotic Pathways in Synovial Fibroblasts. The drugs Imatinib Mesylate and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are growth/size/body region and digestive/alimentary

Wikipedia : 71 Mastocytosis, one of the mast cell diseases, is a rare mast cell activation disorder of both children... more...

Related Diseases for Mastocytosis

Diseases in the Mastocytosis family:

Systemic Mastocytosis

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

(show top 50) (show all 198)
id Related Disease Score Top Affiliating Genes
1 gastrointestinal stromal tumor 28.8 KIT KITLG NTRK3 PDGFRA PDGFRB
2 systemic mastocytosis 12.4
3 cutaneous mastocytosis 12.3
4 maculopapular cutaneous mastocytosis 12.1
5 diffuse cutaneous mastocytosis 12.1
6 aggressive systemic mastocytosis 12.0
7 indolent systemic mastocytosis 12.0
8 cutaneous mastocytosis, conductive hearing loss and microtia 11.9
9 pseudoxanthomatous diffuse cutaneous mastocytosis 11.9
10 isolated bone marrow mastocytosis 11.8
11 bullous diffuse cutaneous mastocytosis 11.8
12 smouldering systemic mastocytosis 11.8
13 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.8
14 mastocytosis cutaneous with short stature conductive hearing loss and microtia 11.7
15 lymphoadenopathic mastocytosis with eosinophilia 11.7
16 urticaria pigmentosa 11.5
17 telangiectasia macularis eruptive perstans 11.4
18 mast cell disease 11.4
19 sm-ahnmd 11.3
20 mast-cell leukemia 11.1
21 mastocytic enterocolitis 10.8
22 monoclonal mast cell activation syndrome 10.8
23 telangiectasia macularis eruptiva perstans 10.3
24 leukemia 10.3
25 cutaneous mastocytoma 10.3
26 urticaria 10.3
27 intracranial sinus thrombosis 10.2 KIT KITLG
28 invasive mole 10.2 KIT PDGFRA
29 freemartinism 10.2 CD2 KIT
30 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.2 KIT PDGFRA
31 high grade b-cell lymphoma with rearrangements of myc and bcl2 and/or bcl6 10.2 KIT KITLG
32 larynx leiomyosarcoma 10.2 KIT PDGFRA
33 rectum leiomyoma 10.2 KIT PDGFRA
34 pustulosis palmaris et plantaris 10.2 KIT PDGFRA
35 myofibromatosis, infantile, 1 10.2 IFNA2 PDGFRB
36 hemangioma of peripheral nerve 10.2 IFNA2 KIT KITLG
37 cerebral arterial disease 10.1 KIT PDGFRA
38 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.1 PDGFRA PDGFRB
39 spastic paraplegia 3a, autosomal dominant 10.1 IL13 KIT
40 malignant epithelial mesothelioma 10.1 IFNA2 KIT PDGFRA
41 autosomal dominant proximal renal tubular acidosis 10.1 PDGFRA PDGFRB
42 dentinogenesis imperfecta, shields type ii 10.1 KIT KITLG PDGFRA
43 kidney rhabdoid cancer 10.1 CD2 KIT KITLG
44 osteoporosis 10.1
45 ganglioneuroma 10.1 CD2 KIT PDGFRA
46 fragile x-associated tremor/ataxia syndrome 10.1 KIT PDGFRA
47 cough variant asthma 10.1 IL2RA KIT KITLG
48 kidney clear cell sarcoma 10.1 KIT PDGFRA
49 dfnb1 10.1 KIT PDGFRA PDGFRB
50 kahrizi syndrome 10.1 KIT PDGFRA PDGFRB

Graphical network of the top 20 diseases related to Mastocytosis:



Diseases related to Mastocytosis

Symptoms & Phenotypes for Mastocytosis

Human phenotypes related to Mastocytosis:

32 (show all 27)
id Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 fatigue 32 HP:0012378
3 diarrhea 32 HP:0002014
4 nausea and vomiting 32 HP:0002017
5 macule 32 HP:0012733
6 respiratory insufficiency 32 HP:0002093
7 hypotension 32 HP:0002615
8 splenomegaly 32 HP:0001744
9 hepatomegaly 32 HP:0002240
10 osteoporosis 32 HP:0000939
11 arrhythmia 32 HP:0011675
12 abnormal blistering of the skin 32 HP:0008066
13 anorexia 32 HP:0002039
14 sarcoma 32 HP:0100242
15 asthma 32 HP:0002099
16 gastrointestinal hemorrhage 32 HP:0002239
17 recurrent fractures 32 HP:0002757
18 hypercalcemia 32 HP:0003072
19 cough 32 HP:0012735
20 urticaria 32 HP:0001025
21 acute leukemia 32 HP:0002488
22 chronic leukemia 32 HP:0005558
23 abnormality of skin pigmentation 32 HP:0001000
24 mastocytosis 32 HP:0100495
25 angioedema 32 HP:0100665
26 impaired temperature sensation 32 HP:0010829
27 telangiectasia of the skin 32 HP:0100585

UMLS symptoms related to Mastocytosis:


exanthema, pruritus

MGI Mouse Phenotypes related to Mastocytosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 KIT KITLG NTRK3 PDGFRA PDGFRB HDC
2 digestive/alimentary MP:0005381 9.95 IL13 IL2RA KIT KITLG PDGFRA PDGFRB
3 hematopoietic system MP:0005397 9.92 RASGRP4 HDC IL13 IL2RA KIT KITLG
4 immune system MP:0005387 9.86 HDC IL13 IL2RA KIT KITLG PDGFRA
5 integument MP:0010771 9.63 HDC IL13 KIT KITLG PDGFRA PDGFRB
6 pigmentation MP:0001186 9.26 KIT KITLG PDGFRA RASGRP4
7 vision/eye MP:0005391 9.1 IL2RA KIT KITLG NTRK3 PDGFRB RASGRP4

Drugs & Therapeutics for Mastocytosis

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

(show top 50) (show all 93)
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
Omalizumab Approved, Investigational Phase 2, Phase 3 242138-07-4
4
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
5 Anti-Allergic Agents Phase 2, Phase 3
6 Anti-Asthmatic Agents Phase 2, Phase 3
7 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
8 Respiratory System Agents Phase 2, Phase 3
9 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
10
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
11
Sunitinib Approved, Investigational Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
12
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
13
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
14
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
15
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
16
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
17
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
18
Vidarabine Approved Phase 2,Phase 1 24356-66-9 32326 21704
19
rituximab Approved Phase 2 174722-31-7 10201696
20
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
21
alemtuzumab Approved, Investigational Phase 2 216503-57-0
22
Everolimus Approved Phase 2 159351-69-6 6442177
23
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
24
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
25
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
26
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
27
Busulfan Approved, Investigational Phase 2 55-98-1 2478
28 Staurosporine Experimental Phase 2 62996-74-1
29 Specific substance maruyama Phase 2
30 Angiogenesis Inhibitors Phase 2,Phase 1
31 Angiogenesis Modulating Agents Phase 2,Phase 1
32 4'-N-benzoylstaurosporine Phase 2
33 Interleukin-2 Phase 2
34 Analgesics Phase 2
35 Albumin-Bound Paclitaxel Phase 2
36 Cromolyn Sodium Phase 2
37 Analgesics, Non-Narcotic Phase 2
38 Dermatologic Agents Phase 2,Phase 1
39 Peripheral Nervous System Agents Phase 2
40 Vidarabine Phosphate Phase 2,Phase 1
41 Anti-Bacterial Agents Phase 2,Phase 1
42 Immunoglobulins Phase 2
43 Anti-Infective Agents Phase 2,Phase 1
44 Antibodies, Monoclonal Phase 2
45 Antifungal Agents Phase 2,Phase 1
46 Antimetabolites Phase 2,Phase 1
47 Antibiotics, Antitubercular Phase 2,Phase 1
48 Antimetabolites, Antineoplastic Phase 2,Phase 1
49 Antibodies Phase 2
50 Antirheumatic Agents Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 69)
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 The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients Completed NCT01333293 Phase 2, Phase 3
4 Study on Mastocytosis for Rupatadine Treatment Completed NCT01481909 Phase 2, Phase 3
5 Cladribine Plus Pegylated Interpheron Alfa-2a in Systemic Mastocytosis Recruiting NCT01602939 Phase 2, Phase 3
6 Midostaurin in Indolent Systemic Mastocytosis Unknown status NCT01920204 Phase 2
7 Evaluation of Response of Dasatinib to Treat Mastocytosis Unknown status NCT00979160 Phase 2
8 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Unknown status NCT00555581 Phase 2
9 Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Unknown status NCT01824615 Phase 2
10 Everolimus (RAD001) as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2
11 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2
12 Treatment of Indolent Systemic Mastocytosis With PA101 Completed NCT02478957 Phase 2
13 Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Completed NCT00831974 Phase 2
14 Masitinib in Patients With Mastocytosis With Handicap and Bearing the D816V Mutation Completed NCT01266369 Phase 2
15 Stem Cell Transplantation to Treat Systemic Mastocytosis Completed NCT00006413 Phase 2
16 Ontak (Denileukin Diftitox) in Patients With Systemic Mastocytosis (SM) Completed NCT00493129 Phase 2
17 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2
18 17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Systemic Mastocytosis Completed NCT00132015 Phase 2
19 Dasatinib as Therapy for Myeloproliferative Disorders (MPDs) Completed NCT00255346 Phase 2
20 A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related Cancers Completed NCT00109707 Phase 1, Phase 2
21 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2
22 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2
23 Phase II Trial of Prophylactic Rituximab Therapy for Prevention of CGVHD Completed NCT00186628 Phase 2
24 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
25 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Recruiting NCT02415608 Phase 2
26 SL-401 in Advanced, High Risk Myeloproliferative Neoplasms (Systemic Mastocytosis, Advanced Symptomatic Hypereosinoophic Disorder, Myelofibrosis, Chronic Myelomonocytic Leukemia) Recruiting NCT02268253 Phase 1, Phase 2
27 A Randomized, Double-Blind, Placebo-Controlled Study of Omalizumab for Idiopathic Anaphylaxis Recruiting NCT00890162 Phase 2
28 A Two-Step Approach to Reduced Intensity Bone Marrow Transplant for Patients With Hematological Malignancies Recruiting NCT01384513 Phase 2
29 Phase II Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia Active, not recruiting NCT00233454 Phase 2
30 Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia Active, not recruiting NCT00782067 Phase 2
31 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
32 Cromoglicate in Mastocytosis Terminated NCT01701843 Phase 2
33 Obatoclax for Systemic Mastocytosis Terminated NCT00918931 Phase 2
34 Sunitinib in Treating Patients With Idiopathic Myelofibrosis Terminated NCT00387426 Phase 2
35 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1
36 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1
37 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Recruiting NCT02808793 Phase 1
38 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (advSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1
39 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1
40 Use of Tamoxifen in Systemic Mastocytosis Unknown status NCT01334996
41 Clonal Mast Cell Disorders in Exercise-Induced Anaphylaxis Unknown status NCT01326741
42 Molecular Mechanisms and Diagnosis of Mastocytosis Completed NCT00336076
43 Cause and Natural Course of Pediatric-Onset Mastocytosis Completed NCT00050193
44 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
45 Characteristics of Mast Cells in Mastocytosis Completed NCT00001356
46 Blood Factors in Mastocytosis and Unexplained Anaphylaxis and Flushing Completed NCT00047918
47 Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy Individuals Completed NCT00001760
48 Therapy of HES, PV, Atypical Chronic Myelocytic Leukemia (CML) or Chronic Myelomonocytic Leukemia (CMML), and Mastocytosis With Imatinib Mesylate Completed NCT00038675
49 Natural History of Urticaria Pigmentosa in Children Completed NCT00467792
50 Deferasirox in Treating Iron Overload Caused By Blood Transfusions in Patients With Hematologic Malignancies Completed NCT01273766

Search NIH Clinical Center for Mastocytosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Mastocytosis

Genetic tests related to Mastocytosis:

id Genetic test Affiliating Genes
1 Mastocytosis 29

Anatomical Context for Mastocytosis

MalaCards organs/tissues related to Mastocytosis:

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

Publications for Mastocytosis

Articles related to Mastocytosis:

(show top 50) (show all 1118)
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
Interleukin-31 Polymorphisms and Serum IL-31 Level in Patients with Mastocytosis: Correlation with Clinical Presen-tation and Pruritus. ( 27276346 )
2017
4
Clonal reticulohistiocytosis of the skin and bone marrow associated with systemic mastocytosis and acute myeloid leukaemia. ( 28074480 )
2017
5
Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene. ( 27981619 )
2017
6
An unusual case of tubulointerstitial renalA mastocytosis. ( 28003089 )
2017
7
Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study. ( 28069279 )
2017
8
Mastocytosis and Anaphylaxis. ( 27886904 )
2017
9
Longitudinal Evaluation of Bone Mineral Density and Bone Metabolism Markers in Patients with Indolent Systemic Mastocytosis Without Osteoporosis. ( 27743017 )
2017
10
Vaccination Management In Children and Adults With Mastocytosis. ( 28079293 )
2017
11
Imatinib in systemic mastocytosis: a phase IV clinical trial in patients lacking exon 17 KIT mutations and review of the literature. ( 27448981 )
2016
12
Well-differentiated systemic mastocytosis showed excellent clinical response to imatinib in the absence of known molecular genetic abnormalities: A case report. ( 27741105 )
2016
13
Successful Treatment of Provisional Cutaneous Mastocytosis with Interferon Alpha. ( 27293273 )
2016
14
Comparison of gDNA-based versus mRNA-based KIT D816V mutation analysis reveals large differences between blood andA bone marrow in systemic mastocytosis. ( 27196380 )
2016
15
A case of systemic mastocytosis diagnosed on colonic biopsy. ( 27772953 )
2016
16
Response of patients with indolent systemic mastocytosis to tamoxifen citrate. ( 26612479 )
2016
17
Cutaneous form of maculopapular mastocytosis in a foal. ( 27109586 )
2016
18
Telangiectasia macularis eruptiva perstans (TMEP): A form of cutaneous mastocytosis with potential systemic involvement. ( 26899198 )
2016
19
Histone deacetylase inhibitor SAHA mediates mast cell death and epigenetic silencing of constitutively active D816V KIT in systemic mastocytosis. ( 28038453 )
2016
20
Granular IgM Deposition at Basement Membrane Zone in an Infant with Diffuse Cutaneous Mastocytosis. ( 27688466 )
2016
21
Analytical and clinical validation of an LC-MS/MS method for urine leukotriene E4: A marker of systemic mastocytosis. ( 26908217 )
2016
22
Ileal Pouch Biopsy Triggers Investigation and Diagnosis of Systemic Mastocytosis. ( 27807556 )
2016
23
Expression of PD-L1 in mastocytosis. ( 27085232 )
2016
24
Advances in the understanding and clinical management of mastocytosis and clonal mast cell activation syndromes. ( 27909577 )
2016
25
Kounis syndrome and systemic mastocytosis in a 52-year-old man having surgery. ( 27486207 )
2016
26
Systemic Mastocytosis Causing Refractory Pruritus in a Liver Disease Patient. ( 27921051 )
2016
27
Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. ( 27694501 )
2016
28
Systemic Mastocytosis as an Unconventional Cause of Variceal Bleeding: Think Outside the Box. ( 27433408 )
2016
29
Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients. ( 27060898 )
2016
30
A child with mastocytosis and lymphomatoid papulosis. ( 27190619 )
2016
31
The Role of TRAF4 and B3GAT1 Gene Expression in the Food Hypersensitivity and Insect Venom Allergy in Mastocytosis. ( 27086366 )
2016
32
Kounis syndrome revisited: Systemic mastocytosis and severe coronary artery disease. ( 27040990 )
2016
33
Systemic mastocytosis presenting as occupational IgE-mediated anaphylaxis to pine processionary caterpillar. ( 27474119 )
2016
34
Bone marrow tryptase as a possible diagnostic criterion for adult systemic mastocytosis. ( 26767494 )
2016
35
Transient hypogammaglobulinaemia of infants in children with mastocytosis - strengthened indications for vaccinations. ( 27833446 )
2016
36
The Basophil Activation Test Is Not a Useful Screening Tool for Hymenoptera Venom-Related Anaphylaxis in Patients with Systemic Mastocytosis. ( 27055231 )
2016
37
Risk of solid cancer, cardiovascular disease, anaphylaxis, osteoporosis and fractures in patients with systemic mastocytosis: A nationwide population-based study. ( 27428296 )
2016
38
Association between rheumatoid arthritis and systemic mastocytosis: a case report and literature review. ( 27507661 )
2016
39
Consensus Opinion on Allogeneic Hematopoietic Cell Transplantation in Advanced Systemic Mastocytosis. ( 27131865 )
2016
40
Systemic mastocytosis: A cohort study on clinical characteristics of 136 patients in a large tertiary centre. ( 26809706 )
2016
41
Systemic mastocytosis with generalised skin involvement. ( 27745878 )
2016
42
Chronic intractable diarrhea caused by gastrointestinal mastocytosis. ( 27433151 )
2016
43
Diffuse Cutaneous Bullous Mastocytosis and Disseminated Intravascular Coagulation Postvaccination: A Case Report. ( 27436822 )
2016
44
Clinicopathological characteristics of systemic mastocytosis in the intestine. ( 27391777 )
2016
45
Evaluation of vaccination safety in children with mastocytosis. ( 27590431 )
2016
46
Systemic Mastocytosis with Smoldering Multiple Myeloma: Report of a Case. ( 27293930 )
2016
47
Improving prognostic tools in systemic mastocytosis: Insights from mutations. ( 27397606 )
2016
48
Prostaglandin D2 metabolites as a biomarker of in vivo mast cell activation in systemic mastocytosis and rheumatoid arthritis. ( 27042302 )
2016
49
Mastocytosis. ( 27545739 )
2016
50
Multiple vertebral fractures in young man as first manifestation of systemic mastocytosis. ( 26975512 )
2016

Variations for Mastocytosis

Expression for Mastocytosis

Search GEO for disease gene expression data for Mastocytosis.

Pathways for Mastocytosis

Pathways related to Mastocytosis according to GeneCards Suite gene sharing:

(show all 37)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 IFNA2 IL13 IL2RA KIT KITLG PDGFRA
2
Show member pathways
13.68 IFNA2 IL2RA KIT KITLG NTRK3 PDGFRA
3
Show member pathways
13.67 CD2 IL13 IL2RA KIT KITLG NTRK3
4
Show member pathways
13.38 IL2RA KIT KITLG NTRK3 PDGFRA PDGFRB
5
Show member pathways
13.32 IL2RA KIT KITLG PDGFRA PDGFRB RASGRP4
6
Show member pathways
13.31 CD2 IFNA2 IL13 IL2RA KIT KITLG
7
Show member pathways
13.18 CD2 IL13 IL2RA KIT KITLG NTRK3
8
Show member pathways
13.15 IL2RA KIT KITLG NTRK3 PDGFRA PDGFRB
9
Show member pathways
13.12 KIT KITLG NTRK3 PDGFRA PDGFRB
10
Show member pathways
13.08 IFNA2 IL13 IL2RA KIT KITLG PDGFRA
11
Show member pathways
13.05 CD2 IFNA2 IL13 IL2RA KIT KITLG
12
Show member pathways
12.92 CD2 IL13 IL2RA KIT KITLG NTRK3
13
Show member pathways
12.89 IL2RA KIT KITLG NTRK3 PDGFRA PDGFRB
14
Show member pathways
12.87 IL2RA KIT KITLG NTRK3 PDGFRA PDGFRB
15
Show member pathways
12.73 KIT KITLG PDGFRA PDGFRB
16
Show member pathways
12.69 IFNA2 IL13 IL2RA PDGFRA
17
Show member pathways
12.59 KIT KITLG PDGFRA PDGFRB RASGRP4
18
Show member pathways
12.57 KIT KITLG PDGFRA PDGFRB
19 12.53 KIT KITLG PDGFRA PDGFRB RASGRP4
20 12.4 CD2 IL2RA KIT KITLG
21
Show member pathways
12.28 IL13 IL2RA NTRK3 PDGFRA PDGFRB
22
Show member pathways
12.26 KIT KITLG PDGFRA PDGFRB
23
Show member pathways
12.06 IFNA2 IL13 IL2RA
24
Show member pathways
12.03 NTRK3 PDGFRA PDGFRB
25 11.97 IFNA2 IL2RA KIT KITLG PDGFRA PDGFRB
26 11.95 KIT KITLG PDGFRA PDGFRB
27 11.76 CD2 IL2RA KIT KITLG
28 11.66 IL13 IL2RA KIT
29 11.6 KITLG NTRK3 PDGFRA PDGFRB
30
Show member pathways
11.6 KIT PDGFRA PDGFRB
31 11.52 KIT NTRK3 PDGFRA PDGFRB
32 11.39 NTRK3 PDGFRA PDGFRB
33 11.11 IL13 IL2RA
34 11.09 CD2 IFNA2 IL2RA KIT KITLG
35 11 PDGFRA PDGFRB
36 10.83 KIT KITLG
37 10.76 PDGFRA PDGFRB

GO Terms for Mastocytosis

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

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.46 CD2 IL2RA KIT PDGFRB
2 external side of plasma membrane GO:0009897 9.02 CD2 IL13 IL2RA KIT PDGFRA
3 intrinsic component of plasma membrane GO:0031226 8.96 PDGFRA PDGFRB

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

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.94 KIT NTRK3 PDGFRA PDGFRB
2 positive regulation of cell proliferation GO:0008284 9.93 KIT KITLG NTRK3 PDGFRA PDGFRB
3 inflammatory response GO:0006954 9.91 IFNA2 IL13 IL2RA KIT
4 positive regulation of GTPase activity GO:0043547 9.85 IL2RA KIT KITLG PDGFRA PDGFRB RASGRP4
5 positive regulation of cell migration GO:0030335 9.83 KIT NTRK3 PDGFRA PDGFRB
6 protein autophosphorylation GO:0046777 9.81 KIT NTRK3 PDGFRA PDGFRB
7 peptidyl-tyrosine phosphorylation GO:0018108 9.8 KIT NTRK3 PDGFRA PDGFRB
8 male gonad development GO:0008584 9.78 KIT KITLG PDGFRB
9 cell chemotaxis GO:0060326 9.74 KIT PDGFRA PDGFRB
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 KIT PDGFRA PDGFRB
11 positive regulation of MAP kinase activity GO:0043406 9.72 KIT KITLG PDGFRB
12 phosphatidylinositol-mediated signaling GO:0048015 9.71 KIT KITLG PDGFRA PDGFRB
13 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.63 IFNA2 KIT
14 platelet-derived growth factor receptor signaling pathway GO:0048008 9.63 PDGFRA PDGFRB
15 positive regulation of Ras protein signal transduction GO:0046579 9.62 KITLG RASGRP4
16 embryonic hemopoiesis GO:0035162 9.62 KIT KITLG
17 phosphatidylinositol phosphorylation GO:0046854 9.62 KIT KITLG PDGFRA PDGFRB
18 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.61 KIT PDGFRA PDGFRB
19 cardiac myofibril assembly GO:0055003 9.6 PDGFRA PDGFRB
20 retina vasculature development in camera-type eye GO:0061298 9.59 PDGFRA PDGFRB
21 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.58 PDGFRA PDGFRB
22 ectopic germ cell programmed cell death GO:0035234 9.58 KIT KITLG
23 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.56 KIT KITLG PDGFRA PDGFRB
24 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.48 PDGFRA PDGFRB
25 metanephric glomerular capillary formation GO:0072277 9.46 PDGFRA PDGFRB
26 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.35 KIT NTRK3 PDGFRA PDGFRB RASGRP4
27 positive regulation of phospholipase C activity GO:0010863 9.33 KIT PDGFRA PDGFRB
28 MAPK cascade GO:0000165 9.1 IL2RA KIT KITLG PDGFRA PDGFRB RASGRP4

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.76 KIT NTRK3 PDGFRA PDGFRB
2 cytokine activity GO:0005125 9.65 IFNA2 IL13 KITLG
3 protein tyrosine kinase activity GO:0004713 9.56 KIT NTRK3 PDGFRA PDGFRB
4 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.46 KIT KITLG PDGFRA PDGFRB
5 cytokine receptor binding GO:0005126 9.43 IFNA2 IL13
6 platelet-derived growth factor receptor binding GO:0005161 9.4 PDGFRA PDGFRB
7 platelet-derived growth factor binding GO:0048407 9.37 PDGFRA PDGFRB
8 vascular endothelial growth factor binding GO:0038085 9.32 PDGFRA PDGFRB
9 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 KIT NTRK3 PDGFRA PDGFRB
10 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.1 IL2RA KIT KITLG PDGFRA PDGFRB RASGRP4

Sources for 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
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44 MGI
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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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