MCID: MST009
MIFTS: 64

Mastocytosis

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Mastocytosis

Summaries for Mastocytosis

GARD : 20 Mastocytosis occurs when too many mast cells accumulate in the skin and/or internal organs such as the liver, spleen, bone marrow, and small intestines. Mast cells are a type of white blood cell in the immune system. Mast cells are responsible for protecting the body from infection and releasing chemicals to create inflammatory responses. The signs and symptoms of mastocytosis vary based on which parts of the body are affected. There are two main forms of mastocytosis. Cutaneous mastocytosis only affects the skin and is more common in children. Systemic mastocytosis affects more than one part of the body and is more common in adults. Mastocytosis is usually caused by changes (known as variations or mutations ) in the KIT gene. Most cases are caused by somatic mutations, meaning they only occur in certain parts of the body and are not inherited or passed on to the next generation. However, mastocystosis can rarely affect more than one person in a family. Mastocysotis may be suspected when a doctor sees a person has signs and symptoms of the disease. Diagnosis may be confirmed with a skin biopsy or bone marrow biopsy. Treatment of mastocytosis is based on the signs and symptoms present in each person and can include antihistamines, mast cell stabilizers, corticosteroids, and oral psoralen plus UV-A therapy.

MalaCards based summary : Mastocytosis, also known as mast cell hyperplasia, is related to mastocytosis, cutaneous and systemic mastocytosis with associated hematologic neoplasm, and has symptoms including macule, pruritus and exanthema. An important gene associated with Mastocytosis is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. The drugs Protein Kinase Inhibitors and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, skin and myeloid, and related phenotypes are macule and urticaria

Wikipedia : 73 Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused... 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 536)
# Related Disease Score Top Affiliating Genes
1 mastocytosis, cutaneous 32.9 TET2 PDGFRA KITLG KIT IFNA2 FIP1L1
2 systemic mastocytosis with associated hematologic neoplasm 32.2 TET2 SRSF2 KIT ASXL1
3 mast-cell leukemia 32.1 RASGRP4 NTRK3 KLRG1 KITLG KIT
4 indolent systemic mastocytosis 31.9 TPSAB1 TET2 SRSF2 KITLG KIT FIP1L1
5 systemic mastocytosis 31.7 TPSAB1 TET2 SRSF2 PDGFRB PDGFRA KITLG
6 sm-ahnmd 31.6 TET2 SRSF2 PDGFRA KITLG KIT JAK2
7 gastrointestinal stromal tumor 31.5 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
8 aggressive systemic mastocytosis 31.5 TET2 SRSF2 PDGFRB PDGFRA KITLG KIT
9 mast cell neoplasm 31.0 NTRK3 KITLG KIT HDC CD2
10 extracutaneous mastocytoma 30.9 TET2 SRSF2 KITLG KIT FIP1L1 CD2
11 hematologic cancer 30.7 PDGFRB KITLG KIT JAK2 IL2RA
12 mast-cell sarcoma 30.7 KITLG KIT FIP1L1 CD2
13 myelodysplastic syndrome 30.7 TET2 SRSF2 PDGFRB KITLG KIT JAK2
14 thrombocytosis 30.7 TET2 KITLG JAK2 ASXL1
15 hypereosinophilic syndrome 30.6 PDGFRB PDGFRA KIT JAK2 IL2RA IL13
16 dowling-degos disease 1 30.5 MITF KITLG KIT
17 myeloproliferative neoplasm 30.4 TET2 PDGFRB PDGFRA KITLG KIT JAK2
18 chronic myelomonocytic leukemia 30.4 TET2 SRSF2 PDGFRB PDGFRA KIT JAK2
19 myelofibrosis 30.4 TET2 SRSF2 PDGFRB KIT JAK2 IL2RA
20 essential thrombocythemia 30.3 TET2 KIT JAK2 IFNA2 ASXL1
21 leukemia, acute myeloid 30.3 TET2 SRSF2 PDGFRB PDGFRA KITLG KIT
22 severe combined immunodeficiency 30.2 KITLG KIT IL2RA IL13
23 leukemia, chronic myeloid 30.2 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
24 piebald trait 30.2 PDGFRA MITF KITLG KIT
25 chronic eosinophilic leukemia 30.2 TET2 PDGFRB PDGFRA KIT JAK2 FIP1L1
26 benign mastocytoma 30.1 KIT CD2
27 hypereosinophilic syndrome, idiopathic 30.1 PDGFRB PDGFRA KIT FIP1L1
28 childhood acute myeloid leukemia 30.0 TET2 KIT ASXL1
29 dysgerminoma of ovary 30.0 KITLG KIT
30 refractory anemia 30.0 TET2 JAK2 ASXL1
31 pdgfra-associated chronic eosinophilic leukemia 30.0 PDGFRA FIP1L1
32 mucosal melanoma 29.9 MITF KIT IFNA2
33 blood coagulation disease 29.9 TET2 KIT JAK2 ASXL1
34 neurofibroma 29.8 PDGFRA MITF KITLG KIT
35 budd-chiari syndrome 29.8 PDGFRA JAK2 FIP1L1
36 fibrosarcoma 29.8 PDGFRA NTRK3 KIT JAK2
37 b-lymphoblastic leukemia/lymphoma 29.8 KITLG KIT IL2RA
38 core binding factor acute myeloid leukemia 29.7 KIT JAK2
39 skin melanoma 29.7 PDGFRA MITF KITLG KIT IFNA2
40 myelodysplastic/myeloproliferative neoplasm 29.7 TET2 SRSF2 PDGFRB PDGFRA KIT JAK2
41 atypical chronic myeloid leukemia 29.6 TET2 SRSF2 PDGFRB PDGFRA JAK2 ASXL1
42 juvenile myelomonocytic leukemia 29.5 TET2 PDGFRB PDGFRA JAK2 IL13 ASXL1
43 polycythemia vera 29.5 TET2 PDGFRB PDGFRA KITLG KIT JAK2
44 renal cell carcinoma, nonpapillary 29.3 PDGFRB PDGFRA MITF KIT IL2RA IL13
45 telangiectasia macularis eruptive perstans 11.3
46 mastocytosis cutaneous with short stature conductive hearing loss and microtia 11.2
47 cutaneous mastocytosis, conductive hearing loss and microtia 11.2
48 pseudoxanthomatous diffuse cutaneous mastocytosis 11.1
49 mastocytic enterocolitis 11.1
50 cutaneous mastocytoma 11.0

Graphical network of the top 20 diseases related to Mastocytosis:



Diseases related to Mastocytosis

Symptoms & Phenotypes for Mastocytosis

Human phenotypes related to Mastocytosis:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macule 31 hallmark (90%) HP:0012733
2 urticaria 31 hallmark (90%) HP:0001025
3 abnormality of skin pigmentation 31 hallmark (90%) HP:0001000
4 pruritus 31 hallmark (90%) HP:0000989
5 mastocytosis 31 hallmark (90%) HP:0100495
6 nausea and vomiting 31 frequent (33%) HP:0002017
7 abnormal blistering of the skin 31 frequent (33%) HP:0008066
8 diarrhea 31 frequent (33%) HP:0002014
9 impaired temperature sensation 31 frequent (33%) HP:0010829
10 hypotension 31 occasional (7.5%) HP:0002615
11 respiratory insufficiency 31 occasional (7.5%) HP:0002093
12 splenomegaly 31 occasional (7.5%) HP:0001744
13 hepatomegaly 31 occasional (7.5%) HP:0002240
14 fatigue 31 occasional (7.5%) HP:0012378
15 osteoporosis 31 occasional (7.5%) HP:0000939
16 anorexia 31 occasional (7.5%) HP:0002039
17 arrhythmia 31 occasional (7.5%) HP:0011675
18 telangiectasia of the skin 31 occasional (7.5%) HP:0100585
19 sarcoma 31 occasional (7.5%) HP:0100242
20 recurrent fractures 31 occasional (7.5%) HP:0002757
21 cough 31 occasional (7.5%) HP:0012735
22 asthma 31 occasional (7.5%) HP:0002099
23 gastrointestinal hemorrhage 31 occasional (7.5%) HP:0002239
24 hypercalcemia 31 occasional (7.5%) HP:0003072
25 acute leukemia 31 occasional (7.5%) HP:0002488
26 chronic leukemia 31 occasional (7.5%) HP:0005558
27 angioedema 31 occasional (7.5%) HP:0100665

UMLS symptoms related to Mastocytosis:


macule; pruritus; exanthema; darier's sign

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.75 FIP1L1
2 Decreased viability GR00173-A 9.75 PDGFRA
3 Decreased viability GR00221-A-1 9.75 KIT PDGFRA PDGFRB
4 Decreased viability GR00221-A-2 9.75 JAK2 NTRK3
5 Decreased viability GR00221-A-3 9.75 PDGFRA PDGFRB
6 Decreased viability GR00221-A-4 9.75 NTRK3 PDGFRA PDGFRB
7 Decreased viability GR00249-S 9.75 CD2 FIP1L1 IL2RA PDGFRA
8 Decreased viability GR00301-A 9.75 KIT
9 Decreased viability GR00342-S-1 9.75 PDGFRB
10 Decreased viability GR00381-A-1 9.75 TPSAB1
11 Decreased viability GR00386-A-1 9.75 FIP1L1 HDC KITLG SRSF2
12 Decreased viability GR00402-S-2 9.75 IL2RA MITF PDGFRA SRSF2

MGI Mouse Phenotypes related to Mastocytosis:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 ASXL1 IL13 JAK2 KIT KITLG MITF
2 growth/size/body region MP:0005378 10.25 ASXL1 HDC IL13 IL2RA JAK2 KIT
3 hematopoietic system MP:0005397 10.22 ASXL1 HDC IL13 IL2RA JAK2 KIT
4 endocrine/exocrine gland MP:0005379 10.2 ASXL1 IL13 IL2RA JAK2 KIT KITLG
5 immune system MP:0005387 10.18 ASXL1 HDC IL13 IL2RA JAK2 KIT
6 digestive/alimentary MP:0005381 10.13 ASXL1 IL13 IL2RA KIT KITLG PDGFRA
7 mortality/aging MP:0010768 10.13 ASXL1 IL13 IL2RA JAK2 KIT KITLG
8 normal MP:0002873 9.81 CD2 JAK2 KIT KLRG1 MITF NTRK3
9 no phenotypic analysis MP:0003012 9.8 HDC IL13 KIT MITF NTRK3 PDGFRA
10 skeleton MP:0005390 9.65 ASXL1 IL13 IL2RA JAK2 KIT KITLG
11 vision/eye MP:0005391 9.28 ASXL1 IL2RA KIT KITLG MITF NTRK3

Drugs & Therapeutics for Mastocytosis

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

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protein Kinase Inhibitors Phase 4
2 Imatinib Mesylate Phase 4 220127-57-1 123596
3
Omalizumab Approved, Investigational Phase 2, Phase 3 242138-07-4
4
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
5
Denosumab Approved Phase 3 615258-40-7
6 2-chloro-3'-deoxyadenosine Phase 3
7 interferons Phase 3
8 Interferon-alpha Phase 3
9 Proton Pump Inhibitors Phase 3
10 Antidepressive Agents Phase 3
11 Histamine Antagonists Phase 3
12 Histamine H1 Antagonists Phase 3
13 Leukotriene Antagonists Phase 3
14
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
15
midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
16
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
17
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
18
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
19
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
20
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
21
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
22
Mycophenolic acid Approved Phase 2 24280-93-1 446541
23
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
24
Busulfan Approved, Investigational Phase 2 55-98-1 2478
25
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
26
Obatoclax Investigational Phase 2 803712-67-6
27 Angiogenesis Inhibitors Phase 2
28 Interleukin-2 Phase 2
29 Immunoconjugates Phase 2
30 Immunosuppressive Agents Phase 2
31 Anti-Bacterial Agents Phase 2
32 Anti-Infective Agents Phase 2
33 Antirheumatic Agents Phase 2
34 Antibiotics, Antitubercular Phase 2
35 Antitubercular Agents Phase 2
36 Antiviral Agents Phase 2
37 Alkylating Agents Phase 2
38 Calcineurin Inhibitors Phase 2
39 Antimetabolites Phase 2
40 Cromolyn Sodium Phase 2
41 Pharmaceutical Solutions Phase 2
42 Respiratory System Agents Phase 2
43 Anti-Asthmatic Agents Phase 2
44
Ranitidine Approved, Withdrawn Phase 1 66357-59-3, 66357-35-5, 82530-72-1 3001055
45
Acetaminophen Approved Phase 1 103-90-2 1983
46
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 5743
47
Diphenhydramine Approved, Investigational Phase 1 147-24-0, 58-73-1 3100
48
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3
49
Ibuprofen Approved Phase 1 15687-27-1 3672
50
Histamine Approved, Investigational Phase 1 51-45-6, 75614-87-8 774

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 Imatinib Mesylate Therapy in Systemic Mastocytosis Patients Lacking KIT Mutations Completed NCT01297777 Phase 4 Imatinib Mesylate
2 Subcutaneous Cladribine Plus Pegylated Interpheron Alfa-2a in Advanced Systemic Mastocytosis With D816V and Other Exon 17 KIT Mutations. Unknown status NCT01602939 Phase 2, Phase 3 Cladribine and pegylated interpheron alpha-2a
3 The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients Prospective Double-blind, Placebo-controlled, Multicentre Study, XOLMA-Study Completed NCT01333293 Phase 2, Phase 3 injections
4 Randomized, Placebo-controlled, Phase 3 Study to Compare Efficacy and Safety of Masitinib at 6 mg/kg/Day to Placebo in Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap Completed NCT00814073 Phase 3 Masitinib;Placebo
5 Study on Mastocytosis for Rupatadine Treatment An Exploratory Phase IV, Randomised, Double-blind, Placebo Controlled Crossover Study to Assess the Efficacy of 20 mg Rupatadine on the Treatment of Completed NCT01481909 Phase 2, Phase 3 Rupatadin
6 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Recruiting NCT03401060 Phase 3 Denosumab;Placebo
7 Phase 3 Study to Compare Oral Masitinib to Placebo in Treatment of Patients With Smouldering or Indolent Severe Systemic Mastocytosis, Unresponsive to Optimal Symptomatic Treatment Recruiting NCT04333108 Phase 3 Masitinib
8 Phase II Single Arm Open Pilot Study to Demonstrate the Efficacy of Midostaurin in Symptom Improvement and Decrease of Mast Cell Burden in Patients With Indolent or Smoldering Systemic Mastocytosis. Unknown status NCT01920204 Phase 2 Midostaurin,
9 Multicenter, Open-Label, Single Arm Phase II Clinical Trial of Dasatinib in the Treatment of Systemic Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
10 A 12-week With Possible Extension, Prospective, Multicenter, Randomized, Open-label, 2-parallel Group, Phase IIa Study to Compare Efficacy and Safety of AB1010 at 3 or 6 mg/kg/Day in Treatment of Patients With Mastocytosis With Handicap and Bearing Activating Point Mutations in the Phosphotransferase Domain of c-Kit Such as the Main Mutation Asp-816-Val (D816V) Completed NCT01266369 Phase 2 masitinib
11 Phase IIa, Open-label, Randomized Study of Oral AB1010 in Patients With Systemic Indolent Mastocytosis With Handicap and Not Bearing Activating Point Mutations in the Phosphotransferase Domain of c-Kit Such as the Main Mutation Asp-816-Val (D816V) Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
12 Randomized, Double-blind, Placebo-controlled, Crossover Design, Efficacy and Safety Study With PA101 in Patients With Indolent Systemic Mastocytosis Completed NCT02478957 Phase 2 PA101;Placebo
13 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
14 A Single Arm, Phase II, Open-Label Study to Determine the Efficacy of 100mg Twice Daily Oral Dosing of Midostaurin Administered to Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia +/- an Associated Hematological Clonal Non-Mast Cell Lineage Disease Completed NCT00782067 Phase 2 Midostaurin (PKC412)
15 ONTAK (Denileukin Diftitox) in Patients With Systemic Mastocytosis Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
16 A Single Arm, Phase 2, Open-Label Study to Determine the Efficacy of Twice Daily Oral Dosing of PKC412 <Midostaurin> Administered to Patients With Aggressive Systemic Mastocytosis (ASM) and Mast Cell Leukemia (MCL) Completed NCT00233454 Phase 2 Midostaurin
17 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
18 Evaluation of RAD001 as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
19 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
20 A Phase II Clinical Trial of 17-(Allylamino)-17- Demethoxygeldanamycin (17-AAG, NSC 330507 and EPL Diluent, NSC 704057) in Adults With Systemic Mastocytosis Completed NCT00132015 Phase 2 tanespimycin
21 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Systemic Mastocytosis Completed NCT00006413 Phase 2
22 A Study of Brentuximab Vedotin (SGN-35) in CD30-Positive Systemic Mastocytosis With or Without an Associated Hematological Clonal Non-Mast Cell Lineage Disease (AHNMD) Completed NCT01807598 Phase 2 Brentuximab vedotin
23 A Phase IA/II Multicenter, Dose-escalation Study of Oral AMN107 on a Continuous Daily Dosing Schedule in Adult Patients With Imatinib-resistant/Intolerant CML in Chronic or Accelerated Phase or Blast Crisis, Relapsed/Refractory Ph+ ALL, and Other Hematologic Malignancies. Completed NCT00109707 Phase 1, Phase 2 Nilotinib
24 Therapy of Myeloid Metaplasia-Myelofibrosis, Atypical Chronic Myeloid or Myelomonocytic Leukemia, C-Kit Positive Acute Myeloid Leukemia (AML) or High-Risk Myelodysplastic Syndrome (AML-MDS), Hypereosinophilic Syndrome, Polycythemia Vera, and Mastocytosis With Dasatinib (BMS-354825) Completed NCT00255346 Phase 2 Dasatinib (BMS-354825)
25 A Phase 2 Randomized Double-Blinded Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutaneous Sarilumab in Improving the Quality of Life in Subjects With Indolent Systemic Mastocytosis Recruiting NCT03770273 Phase 2
26 A 3-Part, Randomized, Double-Blind, Placebo-Controlled Phase 2 Study to Evaluate Safety and Efficacy of Avapritinib (BLU-285), a Selective KIT Mutation-Targeted Tyrosine Kinase Inhibitor, in Indolent and Smoldering Systemic Mastocytosis With Symptoms Inadequately Controlled With Standard Therapy Recruiting NCT03731260 Phase 2 Avapritinib;Placebo
27 GTB-3550 (CD16/IL-15/CD33)Tri-Specific Killer Engager (TriKE™) for the Treatment of High Risk Myelodysplastic Syndromes, Refractory/Relapsed Acute Myeloid Leukemia and Advanced Systemic Mastocytosis Recruiting NCT03214666 Phase 1, Phase 2 GTB-3550 TriKE™ Phase I;GTB-3550 TriKE™ Phase II
28 Tagraxofusp (SL-401) in Patients With Chronic Myelomonocytic Leukemia (CMML) or Myelofibrosis (MF). [Prior Title: SL-401 in Patients With Advanced, High Risk Myeloproliferative Neoplasms (Systemic Mastocytosis, Advanced Symptomatic Primary Eosinophilic Disorder, Myelofibrosis, Chronic Myelomonocytic Leukemia).] Recruiting NCT02268253 Phase 2 SL-401
29 An Open-label, Single Arm, Phase 2 Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Active, not recruiting NCT03580655 Phase 2 Avapritinib
30 A Two Step Approach to Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation for Patients With Hematologic Malignancies Active, not recruiting NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
31 Evaluation of Obatoclax Mesylate as Therapy for Patients With Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
32 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
33 A Phase II Exploratory Study Evaluating the Efficacy of Topical Cromoglicate Solution Compared to Topical Solution Vehicle in the Treatment of Mastocytosis Terminated NCT01701843 Phase 2 Cromoglicate;Placebo
34 A Phase 2 Study to Evaluate the Anti-Tumor Activity of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Withdrawn NCT03739606 Phase 2
35 A Phase 1, Single Ascending Dose and Multiple Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 in Patients With Indolent Systemic Mastocytosis Completed NCT02808793 Phase 1 AK002
36 A Multicenter Phase 1, Open-Label Study of DCC-2618 to Assess Safety, Tolerability, and Pharmacokinetics in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618;DCC-2618
37 A Phase 1 Trial to Evaluate the Safety of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Recruiting NCT04681105 Phase 1 Acetaminophen;Dexamethasone;Diphenhydramine;Ibuprofen;Ranitidine
38 A Phase 1 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies Active, not recruiting NCT02561988 Phase 1 Avapritinib
39 Prospective Observational Study About Pregnancy and Medically Assisted Conception in Rare Diseases Unknown status NCT02450396
40 Mast Cell Connect: A Registry for Patients With Mastocytosis Completed NCT02620254
41 Natural History of Urticaria Pigmentosa in Children Completed NCT00467792
42 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Completed NCT02761473
43 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Completed NCT03632811
44 Evaluation of the Diagnostic Value of Level of Bone Marrow Tryptase in Adult Systemic Mastocytosis Completed NCT02441166
45 Treatment of Systemic Mastocytosis With Tamoxifen Completed NCT01334996
46 Patient-Reported Outcome Questionnaire Development for Symptoms of Systemic Mastocytosis Completed NCT02380222
47 Determination of Cytokine Production Patterns in the Skin of Patients With Systemic Mastocytosis and Atopic Dermatitis Using the Suction Blister Technique Completed NCT00001760
48 Culture and Characteristics of Mastocytosis Mast Cells Completed NCT00001356
49 Investigation of Cellular and Molecular Pathologic Mechanisms in Mast Cell Disorders. Completed NCT00336076
50 Determining the Pathogenesis of Systemic Pediatric-Onset Mastocytosis Completed NCT00050193

Search NIH Clinical Center for Mastocytosis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Cromolyn
Cromolyn Sodium

Cochrane evidence based reviews: mastocytosis

Genetic Tests for Mastocytosis

Genetic tests related to Mastocytosis:

# Genetic test Affiliating Genes
1 Mastocytosis 29 KIT

Anatomical Context for Mastocytosis

MalaCards organs/tissues related to Mastocytosis:

40
Bone Marrow, Skin, Myeloid, Bone, Spleen, Thyroid, Kidney

Publications for Mastocytosis

Articles related to Mastocytosis:

(show top 50) (show all 4335)
# Title Authors PMID Year
1
Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. 6 61 54
8589724 1996
2
Mast Cells, Mastocytosis, and Related Disorders. 20 61
26154789 2015
3
Familial systemic mastocytosis with germline KIT K509I mutation is sensitive to treatment with imatinib, dasatinib and PKC412. 61 20
25139846 2014
4
Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. 20 61
22892471 2013
5
Mastocytosis in children is associated with mutations in c-KIT. 61 54
20145638 2010
6
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 61 54
19865100 2010
7
KIT masters mast cells in kids, too. 61 54
20145643 2010
8
CD72 negatively regulates KIT-mediated responses in human mast cells. 54 61
20100931 2010
9
Combination of KIT gene silencing and tocopherol succinate may offer improved therapeutic approaches for human mastocytosis. 61 54
19804454 2010
10
Masitinib (AB1010), a potent and selective tyrosine kinase inhibitor targeting KIT. 61 54
19789626 2009
11
Kit inhibitor APcK110 induces apoptosis and inhibits proliferation of acute myeloid leukemia cells. 54 61
19383925 2009
12
Interleukin-13 promoter gene polymorphism -1112C/T is associated with the systemic form of mastocytosis. 61 54
19178408 2009
13
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. 54 61
19175693 2009
14
Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT. 61 54
18795925 2008
15
Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation. 61 54
18567837 2008
16
Discovery of amido-benzisoxazoles as potent c-Kit inhibitors. 54 61
18723346 2008
17
Oncogenic Kit controls neoplastic mast cell growth through a Stat5/PI3-kinase signaling cascade. 61 54
18579792 2008
18
Pharmacological targeting of the KIT growth factor receptor: a therapeutic consideration for mast cell disorders. 54 61
18500355 2008
19
Mast cells and mastocytosis. 61 54
18684881 2008
20
KIT and mastocytosis. 61 54
18566536 2008
21
Distinct clonal origins of systemic mastocytosis and associated B-cell lymphoma. 61 54
17544505 2007
22
Mastocytosis and allergy. 54 61
17873577 2007
23
Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: a study of the Spanish network on mastocytosis (REMA). 61 54
17883734 2007
24
Recent advances in the understanding of mastocytosis: the role of KIT mutations. 61 54
17555444 2007
25
Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. 54 61
17551405 2007
26
[Role of interleukin-9 in asthma and allergic reactions]. 61 54
18404997 2007
27
Neoplasia driven by mutant c-KIT is mediated by intracellular, not plasma membrane, receptor signaling. 61 54
17060458 2007
28
KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. 54 61
16741248 2006
29
[Application of denaturing high performance liquid chromatography to mutation detection of the c-kit gene in mastocytosis]. 54 61
17096902 2006
30
Identification of c-Kit gene mutations in patients with polycythemia vera. 61 54
16460801 2006
31
Molecular diagnosis of mast cell disorders: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. 61 54
16931579 2006
32
KIT mutations in mastocytosis and their potential as therapeutic targets. 54 61
16931294 2006
33
Tryptase genetics and anaphylaxis. 61 54
16751005 2006
34
Immunohistochemical detection of histidine decarboxylase in neoplastic mast cells in patients with systemic mastocytosis. 61 54
16564918 2006
35
Evaluation of the kinase domain of c-KIT in canine cutaneous mast cell tumors. 61 54
16579858 2006
36
A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. 54 61
16183119 2006
37
Vesicular monoamine transporter 2 (VMAT2) expression in hematopoietic cells and in patients with systemic mastocytosis. 61 54
16116033 2006
38
The mast cell and gut nematodes: damage and defence. 61 54
16210907 2006
39
[Systemic mastocytosis]. 61 54
16334197 2005
40
Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis. 61 54
16143141 2005
41
KIT (CD117): a review on expression in normal and neoplastic tissues, and mutations and their clinicopathologic correlation. 61 54
16082245 2005
42
[Systemic mastocytosis]. 61 54
15988348 2005
43
c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation. 54 61
15858149 2005
44
Molecular mechanisms of anaphylaxis: lessons from studies with murine models. 61 54
15753886 2005
45
Are gastrointestinal mucosal mast cells increased in patients with systemic mastocytosis? 54 61
15487454 2004
46
c-kit gene mutations in intracranial germinomas. 54 61
15471556 2004
47
Bone marrow mast cell immunophenotyping in adults with mast cell disease: a prospective study of 33 patients. 61 54
15203275 2004
48
The vesicular monoamine transporter 2 (VMAT2) is expressed by normal and tumor cutaneous mast cells and Langerhans cells of the skin but is absent from Langerhans cell histiocytosis. 61 54
15150286 2004
49
Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: a histopathological challenge. 61 54
15166264 2004
50
A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. 61 54
15070706 2004

Variations for Mastocytosis

ClinVar genetic disease variations for Mastocytosis:

6 (show top 50) (show all 100)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIT NM_000222.2(KIT):c.2515G>A (p.Glu839Lys) SNV Pathogenic 13862 rs121913509 GRCh37: 4:55602694-55602694
GRCh38: 4:54736528-54736528
2 KIT NM_000222.2(KIT):c.1616T>C (p.Ile539Thr) SNV Uncertain significance 409729 rs781371383 GRCh37: 4:55593459-55593459
GRCh38: 4:54727293-54727293
3 KIT NM_000222.2(KIT):c.2923G>C (p.Asp975His) SNV Uncertain significance 348956 rs373152714 GRCh37: 4:55604715-55604715
GRCh38: 4:54738549-54738549
4 KIT NM_000222.2(KIT):c.*1059C>T SNV Uncertain significance 348966 rs886059467 GRCh37: 4:55605782-55605782
GRCh38: 4:54739616-54739616
5 KIT NM_000222.2(KIT):c.*1086C>T SNV Uncertain significance 348967 rs533152310 GRCh37: 4:55605809-55605809
GRCh38: 4:54739643-54739643
6 KIT NM_000222.2(KIT):c.*1101A>G SNV Uncertain significance 348968 rs886059468 GRCh37: 4:55605824-55605824
GRCh38: 4:54739658-54739658
7 KIT NM_000222.2(KIT):c.*198A>G SNV Uncertain significance 348958 rs886059464 GRCh37: 4:55604921-55604921
GRCh38: 4:54738755-54738755
8 KIT NM_000222.2(KIT):c.*1808A>G SNV Uncertain significance 348974 rs762662037 GRCh37: 4:55606531-55606531
GRCh38: 4:54740365-54740365
9 KIT NM_000222.2(KIT):c.2670C>T (p.Leu890=) SNV Uncertain significance 237268 rs745967881 GRCh37: 4:55602960-55602960
GRCh38: 4:54736794-54736794
10 KIT NM_000222.2(KIT):c.*368C>T SNV Uncertain significance 348962 rs886059465 GRCh37: 4:55605091-55605091
GRCh38: 4:54738925-54738925
11 KIT NM_000222.2(KIT):c.*393A>G SNV Uncertain significance 348963 rs886059466 GRCh37: 4:55605116-55605116
GRCh38: 4:54738950-54738950
12 KIT NM_000222.2(KIT):c.1274T>A (p.Met425Lys) SNV Uncertain significance 237238 rs878853760 GRCh37: 4:55589792-55589792
GRCh38: 4:54723626-54723626
13 KIT NM_000222.2(KIT):c.*252G>T SNV Uncertain significance 348960 rs376694515 GRCh37: 4:55604975-55604975
GRCh38: 4:54738809-54738809
14 KIT NM_000222.2(KIT):c.301C>T (p.His101Tyr) SNV Uncertain significance 348954 rs781130745 GRCh37: 4:55561911-55561911
GRCh38: 4:54695745-54695745
15 KIT NM_000222.2(KIT):c.200C>G (p.Thr67Ser) SNV Uncertain significance 237252 rs144933028 GRCh37: 4:55561810-55561810
GRCh38: 4:54695644-54695644
16 KIT NM_000222.2(KIT):c.302A>G (p.His101Arg) SNV Uncertain significance 458940 rs1274601103 GRCh37: 4:55561912-55561912
GRCh38: 4:54695746-54695746
17 KIT NM_000222.2(KIT):c.1553C>T (p.Pro518Leu) SNV Uncertain significance 237245 rs569408054 GRCh37: 4:55593396-55593396
GRCh38: 4:54727230-54727230
18 KIT NM_000222.2(KIT):c.2057G>A (p.Arg686His) SNV Uncertain significance 458902 rs143772138 GRCh37: 4:55595567-55595567
GRCh38: 4:54729401-54729401
19 KIT NM_000222.2(KIT):c.2104C>G (p.Leu702Val) SNV Uncertain significance 409779 rs768847037 GRCh37: 4:55595614-55595614
GRCh38: 4:54729448-54729448
20 KIT NM_000222.2(KIT):c.2294A>G (p.Asp765Gly) SNV Uncertain significance 409730 rs1060502545 GRCh37: 4:55598097-55598097
GRCh38: 4:54731931-54731931
21 KIT NM_000222.2(KIT):c.2836C>T (p.Arg946Ter) SNV Uncertain significance 576610 rs139000082 GRCh37: 4:55604628-55604628
GRCh38: 4:54738462-54738462
22 KIT NM_000222.2(KIT):c.2863G>T (p.Val955Leu) SNV Uncertain significance 409783 rs1060502568 GRCh37: 4:55604655-55604655
GRCh38: 4:54738489-54738489
23 KIT NM_000222.2(KIT):c.2881G>A (p.Gly961Ser) SNV Uncertain significance 237271 rs773828910 GRCh37: 4:55604673-55604673
GRCh38: 4:54738507-54738507
24 KIT NM_000222.2(KIT):c.2887A>G (p.Thr963Ala) SNV Uncertain significance 409774 rs773709702 GRCh37: 4:55604679-55604679
GRCh38: 4:54738513-54738513
25 KIT NM_000222.2(KIT):c.2900C>G (p.Ser967Cys) SNV Uncertain significance 458936 rs1232060384 GRCh37: 4:55604692-55604692
GRCh38: 4:54738526-54738526
26 KIT NM_000222.3(KIT):c.*701A>G SNV Uncertain significance 899420 GRCh37: 4:55605424-55605424
GRCh38: 4:54739258-54739258
27 KIT NM_000222.2(KIT):c.*1487_*1490del Deletion Uncertain significance 348970 rs374796688 GRCh37: 4:55606208-55606211
GRCh38: 4:54740042-54740045
28 KIT NM_000222.2(KIT):c.*597C>T SNV Uncertain significance 348964 rs746982052 GRCh37: 4:55605320-55605320
GRCh38: 4:54739154-54739154
29 KIT NM_000222.3(KIT):c.*1577T>C SNV Uncertain significance 899466 GRCh37: 4:55606300-55606300
GRCh38: 4:54740134-54740134
30 KIT NM_000222.3(KIT):c.615G>A (p.Arg205=) SNV Uncertain significance 900191 GRCh37: 4:55564727-55564727
GRCh38: 4:54698561-54698561
31 KIT NM_000222.2(KIT):c.1185C>A (p.Ser395=) SNV Uncertain significance 528635 rs755864184 GRCh37: 4:55575659-55575659
GRCh38: 4:54709493-54709493
32 KIT NM_000222.2(KIT):c.1264G>A (p.Val422Met) SNV Uncertain significance 576821 rs1560414398 GRCh37: 4:55589782-55589782
GRCh38: 4:54723616-54723616
33 KIT NM_000222.3(KIT):c.78A>C (p.Gln26His) SNV Uncertain significance 857769 GRCh37: 4:55561688-55561688
GRCh38: 4:54695522-54695522
34 KIT NM_000222.2(KIT):c.1889A>G (p.His630Arg) SNV Uncertain significance 409727 rs373554876 GRCh37: 4:55594186-55594186
GRCh38: 4:54728020-54728020
35 KIT NM_000222.2(KIT):c.2118T>G (p.Leu706=) SNV Uncertain significance 237254 rs766840704 GRCh37: 4:55595628-55595628
GRCh38: 4:54729462-54729462
36 KIT NM_000222.2(KIT):c.2234-3C>T SNV Uncertain significance 409785 rs370131461 GRCh37: 4:55598034-55598034
GRCh38: 4:54731868-54731868
37 KIT NM_000222.2(KIT):c.952A>G (p.Met318Val) SNV Uncertain significance 161260 rs143388949 GRCh37: 4:55573290-55573290
GRCh38: 4:54707124-54707124
38 KIT NM_000222.2(KIT):c.978C>T (p.Asn326=) SNV Uncertain significance 458979 rs148594615 GRCh37: 4:55573316-55573316
GRCh38: 4:54707150-54707150
39 KIT NM_000222.2(KIT):c.148G>T (p.Val50Leu) SNV Uncertain significance 409722 rs200950545 GRCh37: 4:55561758-55561758
GRCh38: 4:54695592-54695592
40 KIT NM_000222.3(KIT):c.211C>G (p.Leu71Val) SNV Uncertain significance 901844 GRCh37: 4:55561821-55561821
GRCh38: 4:54695655-54695655
41 KIT NM_000222.2(KIT):c.1618G>C (p.Val540Leu) SNV Uncertain significance 409741 rs756179543 GRCh37: 4:55593461-55593461
GRCh38: 4:54727295-54727295
42 KIT NM_000222.3(KIT):c.*17G>A SNV Uncertain significance 902104 GRCh37: 4:55604740-55604740
GRCh38: 4:54738574-54738574
43 KIT NM_000222.3(KIT):c.*381C>T SNV Uncertain significance 902162 GRCh37: 4:55605104-55605104
GRCh38: 4:54738938-54738938
44 KIT NM_000222.3(KIT):c.*390A>G SNV Uncertain significance 902163 GRCh37: 4:55605113-55605113
GRCh38: 4:54738947-54738947
45 KIT NM_000222.3(KIT):c.*1087G>C SNV Uncertain significance 902211 GRCh37: 4:55605810-55605810
GRCh38: 4:54739644-54739644
46 KIT NM_000222.3(KIT):c.*2041A>G SNV Uncertain significance 902288 GRCh37: 4:55606764-55606764
GRCh38: 4:54740598-54740598
47 KIT NM_000222.3(KIT):c.-56A>C SNV Uncertain significance 900130 GRCh37: 4:55524126-55524126
GRCh38: 4:54657959-54657959
48 KIT NM_000222.2(KIT):c.252G>A (p.Thr84=) SNV Uncertain significance 415776 rs56411694 GRCh37: 4:55561862-55561862
GRCh38: 4:54695696-54695696
49 KIT NM_000222.2(KIT):c.2484C>T (p.Asn828=) SNV Uncertain significance 237263 rs141347955 GRCh37: 4:55599358-55599358
GRCh38: 4:54733192-54733192
50 KIT NM_000222.2(KIT):c.2562C>G (p.Ser854=) SNV Uncertain significance 528556 rs750039813 GRCh37: 4:55602741-55602741
GRCh38: 4:54736575-54736575

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 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
2
Show member pathways
13.62 PDGFRB PDGFRA NTRK3 KIT JAK2 IL2RA
3
Show member pathways
13.39 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
4
Show member pathways
13.3 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
5
Show member pathways
13.2 RASGRP4 PDGFRB PDGFRA KITLG KIT JAK2
6
Show member pathways
13.04 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
7
Show member pathways
13 PDGFRB PDGFRA NTRK3 KITLG KIT IL2RA
8
Show member pathways
12.96 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
9
Show member pathways
12.89 PDGFRB PDGFRA KITLG KIT JAK2 IL2RA
10
Show member pathways
12.77 PDGFRB PDGFRA KITLG KIT JAK2
11 12.7 RASGRP4 PDGFRB PDGFRA KITLG KIT
12
Show member pathways
12.67 RASGRP4 PDGFRB PDGFRA KITLG KIT
13 12.49 KITLG KIT JAK2 IL2RA CD2
14
Show member pathways
12.37 PDGFRB PDGFRA NTRK3 IL2RA IL13
15
Show member pathways
12.35 PDGFRB PDGFRA KITLG KIT
16
Show member pathways
12.34 PDGFRB PDGFRA NTRK3 KITLG KIT
17
Show member pathways
12.15 PDGFRB PDGFRA NTRK3 IL2RA
18
Show member pathways
12.13 PDGFRB PDGFRA JAK2 IL2RA IL13 IFNA2
19
Show member pathways
12.11 MITF KITLG KIT JAK2
20 12.05 RASGRP4 PDGFRB PDGFRA MITF KITLG KIT
21 11.99 PDGFRB MITF KLRG1 KITLG
22 11.94 PDGFRB PDGFRA KITLG KIT JAK2
23 11.82 KITLG KIT IL2RA CD2
24
Show member pathways
11.77 PDGFRB PDGFRA NTRK3 KITLG KIT IL2RA
25 11.73 KIT IL2RA IL13
26 11.62 PDGFRB PDGFRA NTRK3 KIT
27 11.62 KITLG KIT IL2RA IFNA2 CD2
28
Show member pathways
11.51 PDGFRB PDGFRA KIT
29 11.44 JAK2 IL2RA IL13
30 11.42 PDGFRB PDGFRA NTRK3
31 11.37 MITF KITLG KIT
32
Show member pathways
11.27 PDGFRB PDGFRA KIT
33 10.87 KITLG KIT
34 10.85 PDGFRB PDGFRA NTRK3 KITLG KIT IL13
35 10.8 PDGFRB PDGFRA

GO Terms for Mastocytosis

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.26 PDGFRB PDGFRA NTRK3 KIT
2 external side of plasma membrane GO:0009897 9.02 PDGFRA KIT IL2RA IL13 CD2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.02 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
2 inflammatory response GO:0006954 9.98 KLRG1 KIT IL2RA IL13 IFNA2
3 cytokine-mediated signaling pathway GO:0019221 9.93 KIT JAK2 IL2RA IL13 IFNA2
4 positive regulation of protein kinase B signaling GO:0051897 9.88 PDGFRB PDGFRA KITLG KIT
5 protein autophosphorylation GO:0046777 9.86 PDGFRB PDGFRA KIT JAK2
6 positive regulation of cell migration GO:0030335 9.83 PDGFRB PDGFRA NTRK3 KIT JAK2
7 cell chemotaxis GO:0060326 9.79 PDGFRB PDGFRA KIT
8 positive regulation of MAP kinase activity GO:0043406 9.77 PDGFRB KITLG KIT
9 peptidyl-tyrosine phosphorylation GO:0018108 9.72 PDGFRB PDGFRA NTRK3 KIT JAK2
10 positive regulation of kinase activity GO:0033674 9.71 PDGFRB PDGFRA NTRK3 KIT
11 positive regulation of Ras protein signal transduction GO:0046579 9.67 RASGRP4 KITLG JAK2
12 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 KIT JAK2 IL13 IFNA2
13 platelet-derived growth factor receptor signaling pathway GO:0048008 9.65 PDGFRB PDGFRA JAK2
14 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.65 RASGRP4 PDGFRB PDGFRA NTRK3 KIT
15 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.63 PDGFRB PDGFRA KIT
16 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.62 PDGFRB JAK2
17 cardiac myofibril assembly GO:0055003 9.61 PDGFRB PDGFRA
18 retina vasculature development in camera-type eye GO:0061298 9.6 PDGFRB PDGFRA
19 ectopic germ cell programmed cell death GO:0035234 9.57 KITLG KIT
20 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.55 PDGFRB PDGFRA NTRK3 KIT JAK2
21 metanephric glomerular capillary formation GO:0072277 9.52 PDGFRB PDGFRA
22 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.51 PDGFRB PDGFRA
23 MAPK cascade GO:0000165 9.5 RASGRP4 PDGFRB PDGFRA KITLG KIT JAK2
24 positive regulation of phospholipase C activity GO:0010863 8.92 PDGFRB PDGFRA NTRK3 KIT

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.16 TPSAB1 TET2 SRSF2 SLC18A2 RASGRP4 PDGFRB
2 protein kinase activity GO:0004672 9.77 PDGFRB PDGFRA NTRK3 KIT JAK2
3 platelet-derived growth factor receptor binding GO:0005161 9.4 PDGFRB PDGFRA
4 platelet-derived growth factor binding GO:0048407 9.32 PDGFRB PDGFRA
5 vascular endothelial growth factor binding GO:0038085 9.26 PDGFRB PDGFRA
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 PDGFRB PDGFRA NTRK3 KIT
7 protein tyrosine kinase activity GO:0004713 9.02 PDGFRB PDGFRA NTRK3 KIT JAK2

Sources for Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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