MCID: MST009
MIFTS: 66

Mastocytosis

Categories: Blood diseases, Cancer diseases, Immune diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Mastocytosis

MalaCards integrated aliases for Mastocytosis:

Name: Mastocytosis 11 19 58 75 28 53 5 43 14 38 16 71 31 33
Mast Cell Disease 19 75
Malignant Mast Cell Tumours 33
Malignant Mastocytosis 33
Mast Cell Hyperplasia 11
Malignant Mastocytoma 33
Urticaria Pigmentosa 71

Characteristics:


Prevelance:

1-9/100000 (Europe, Denmark) 1-5/10000 (Worldwide) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Mastocytosis

GARD: 19 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 variationss) in the KIT gene. Most cases are caused by somatic genetic changes, 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.

MalaCards based summary: Mastocytosis, also known as mast cell disease, is related to mastocytosis, cutaneous and systemic mastocytosis with associated hematologic neoplasm, and has symptoms including macule, pruritus and darier's sign. An important gene associated with Mastocytosis is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are ERK Signaling and MIF Mediated Glucocorticoid Regulation. 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 75 Mastocytosis: Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused... more...

Mast cell disease: A mast cell (also known as a mastocyte or a labrocyte) is a resident cell of connective tissue that... 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 670)
# Related Disease Score Top Affiliating Genes
1 mastocytosis, cutaneous 32.7 TPSAB1 TET2 SRSF2 PDGFRA KITLG KIT
2 systemic mastocytosis with associated hematologic neoplasm 32.6 TET2 SRSF2 KIT ASXL1
3 indolent systemic mastocytosis 32.1 SRSF2 PDGFRA KITLG KIT FIP1L1 CD2
4 mast-cell leukemia 31.8 RASGRP4 NTRK3 KLRG1 KITLG KIT CD2
5 aggressive systemic mastocytosis 31.6 TET2 SRSF2 PDGFRB PDGFRA KITLG KIT
6 sm-ahnmd 31.6 TET2 SRSF2 PDGFRA KITLG KIT JAK2
7 gastrointestinal stromal tumor 31.6 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
8 systemic mastocytosis 31.4 TPSAB1 TET2 SRSF2 PDGFRB PDGFRA KLRG1
9 extracutaneous mastocytoma 31.3 TET2 SRSF2 KITLG KIT FIP1L1 CD2
10 hematologic cancer 31.0 PDGFRB KITLG KIT JAK2 IL2RA
11 myeloid leukemia 30.9 TET2 PDGFRB PDGFRA KITLG KIT JAK2
12 solitary mastocytoma of the skin 30.8 TPSAB1 KITLG KIT CD2
13 mast-cell sarcoma 30.8 KITLG KIT FIP1L1 CD2 ASXL1
14 myeloproliferative neoplasm 30.7 TET2 SRSF2 PDGFRB PDGFRA KITLG KIT
15 hypereosinophilic syndrome 30.7 PDGFRB PDGFRA KIT JAK2 IL2RA IL13
16 thrombocytosis 30.6 TET2 KITLG JAK2 ASXL1
17 mast cell neoplasm 30.6 SRSF2 NTRK3 KITLG KIT HDC CD2
18 myelodysplastic syndrome 30.5 TET2 SRSF2 PDGFRB PDGFRA KITLG KIT
19 core binding factor acute myeloid leukemia 30.5 TET2 KIT ASXL1
20 myelofibrosis 30.4 TET2 SRSF2 PDGFRB KIT JAK2 IL2RA
21 leukemia, acute myeloid 30.4 TET2 SRSF2 PDGFRB PDGFRA KITLG KIT
22 polycythemia 30.4 TET2 KITLG JAK2
23 refractory anemia 30.3 TET2 ASXL1
24 deficiency anemia 30.3 KITLG KIT JAK2 IFNA2 ASXL1
25 chronic myelomonocytic leukemia 30.2 TET2 SRSF2 PDGFRB PDGFRA KITLG KIT
26 leukemia, chronic lymphocytic 30.2 TET2 SRSF2 KIT JAK2 IL2RA CD2
27 dysgerminoma 30.2 KITLG KIT IL2RA
28 leukemia, chronic myeloid 30.2 TET2 PDGFRB PDGFRA NTRK3 KITLG KIT
29 essential thrombocythemia 30.2 TET2 SRSF2 KITLG KIT JAK2 IFNA2
30 piebald trait 30.2 PDGFRA MITF KITLG KIT
31 chronic eosinophilic leukemia 30.1 TET2 SRSF2 PDGFRB PDGFRA KIT JAK2
32 hypereosinophilic syndrome, idiopathic 30.1 PDGFRB PDGFRA KIT FIP1L1
33 refractory anemia with excess blasts 30.1 TET2 ASXL1
34 benign mastocytoma 30.0 KIT CD2
35 dysgerminoma of ovary 30.0 KITLG KIT
36 dowling-degos disease 1 29.9 MITF KITLG KIT
37 mucosal melanoma 29.9 MITF KIT IFNA2
38 angiosarcoma 29.9 PDGFRB PDGFRA KIT
39 myeloproliferative disorder, chronic, with eosinophilia 29.9 PDGFRB FIP1L1
40 neurofibromatosis, type i 29.9 PDGFRA KITLG KIT
41 myelodysplastic/myeloproliferative neoplasm 29.8 TET2 SRSF2 PDGFRB PDGFRA KIT JAK2
42 atypical chronic myeloid leukemia, bcr-abl1 negative 29.8 TET2 SRSF2 PDGFRB PDGFRA JAK2 ASXL1
43 budd-chiari syndrome 29.8 PDGFRA JAK2 FIP1L1
44 skin disease 29.8 MITF KIT JAK2 IL13 CD2
45 fibrosarcoma 29.8 PDGFRA NTRK3 KIT JAK2
46 acute promyelocytic leukemia 29.7 TET2 KITLG KIT FIP1L1 CD2 ASXL1
47 neurofibroma 29.7 PDGFRB PDGFRA MITF KITLG KIT
48 polycythemia vera 29.5 TET2 PDGFRB PDGFRA KITLG KIT JAK2
49 juvenile myelomonocytic leukemia 29.4 TET2 SRSF2 PDGFRB PDGFRA KITLG KIT
50 renal cell carcinoma, nonpapillary 29.3 PDGFRB PDGFRA MITF KIT IL2RA IL13

Graphical network of the top 20 diseases related to Mastocytosis:



Diseases related to Mastocytosis

Symptoms & Phenotypes for Mastocytosis

Human phenotypes related to Mastocytosis:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012733
2 urticaria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001025
3 abnormality of skin pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001000
4 pruritus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000989
5 mastocytosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100495
6 nausea and vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002017
7 abnormal blistering of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0008066
8 diarrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002014
9 impaired temperature sensation 58 30 Frequent (33%) Frequent (79-30%)
HP:0010829
10 hypotension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002615
11 respiratory insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002093
12 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
13 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002240
14 fatigue 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012378
15 osteoporosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000939
16 asthma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002099
17 anorexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002039
18 arrhythmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011675
19 telangiectasia of the skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100585
20 recurrent fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002757
21 cough 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012735
22 gastrointestinal hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002239
23 hypercalcemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003072
24 acute leukemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002488
25 chronic leukemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005558
26 sarcoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100242
27 angioedema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100665
28 immunologic hypersensitivity 58 Occasional (29-5%)

UMLS symptoms related to Mastocytosis:


macule; pruritus; darier's sign; exanthema

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 ASXL1 CD2 FIP1L1 HDC IFNA2 IL13
2 no effect GR00402-S-2 10.18 ASXL1 CD2 FIP1L1 HDC IFNA2 IL13

MGI Mouse Phenotypes related to Mastocytosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ASXL1 HDC IL13 IL2RA JAK2 KIT
2 normal MP:0002873 10.18 CD2 IFNA2 JAK2 KIT KLRG1 MITF
3 endocrine/exocrine gland MP:0005379 10.14 ASXL1 IL13 IL2RA JAK2 KIT KITLG
4 cellular MP:0005384 10.13 ASXL1 IL13 JAK2 KIT KITLG MITF
5 immune system MP:0005387 10.13 ASXL1 HDC IFNA2 IL13 IL2RA JAK2
6 digestive/alimentary MP:0005381 10.02 ASXL1 IL13 IL2RA KIT KITLG PDGFRA
7 no phenotypic analysis MP:0003012 10 HDC IL13 KIT MITF NTRK3 PDGFRA
8 skeleton MP:0005390 9.9 ASXL1 IL13 IL2RA JAK2 KIT KITLG
9 vision/eye MP:0005391 9.61 ASXL1 IL2RA KIT KITLG MITF NTRK3
10 hematopoietic system MP:0005397 9.5 ASXL1 HDC IFNA2 IL13 IL2RA JAK2

Drugs & Therapeutics for Mastocytosis

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

(show top 50) (show all 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protein Kinase Inhibitors Phase 4
2
Imatinib Mesylate Phase 4 220127-57-1
3
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
4
Omalizumab Approved, Investigational Phase 2, Phase 3 242138-07-4
5
Denosumab Approved Phase 3 615258-40-7
6
Hydroxychloroquine Approved Phase 2, Phase 3 118-42-3 3652
7 2-chloro-3'-deoxyadenosine Phase 3 14485373
8 interferons Phase 3
9 Interferon-alpha Phase 3
10 Leukotriene Antagonists Phase 3
11 Proton Pump Inhibitors Phase 3
12 Antidepressive Agents Phase 3
13 Antirheumatic Agents Phase 2, Phase 3
14 Anti-Infective Agents Phase 2, Phase 3
15 Antiprotozoal Agents Phase 2, Phase 3
16 Antiparasitic Agents Phase 2, Phase 3
17 Antimalarials Phase 2, Phase 3
18
Brentuximab vedotin Approved, Investigational Phase 2 914088-09-8
19
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
20
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
21
Midostaurin Approved, Investigational Phase 2 120685-11-2 9829523
22
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
23
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
24
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
25
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
26
Busulfan Approved, Investigational Phase 2 55-98-1 2478
27
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
28
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
29
Histamine Approved, Investigational Phase 2 51-45-6 774
30
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
31
Promethazine Approved, Investigational Phase 2 60-87-7 4927
32
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
33
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 2 133585-56-5, 60-18-4, 556-02-5 1153 6057
34
Obatoclax Investigational Phase 2 803712-67-6 46930997
35 Immunoconjugates Phase 2
36 Antineoplastic Agents, Immunological Phase 2
37 Immunosuppressive Agents Phase 2
38 Interleukin-2 Phase 2
39 Anti-Bacterial Agents Phase 2
40 Angiogenesis Inhibitors Phase 2
41 Alkylating Agents Phase 2
42 Antineoplastic Agents, Alkylating Phase 2
43 Calcineurin Inhibitors Phase 2
44 Antitubercular Agents Phase 2
45 Antibiotics, Antitubercular Phase 2
46 Antigen-Antibody Complex Phase 2
47 Histamine H1 Antagonists Phase 2
48 Histamine Antagonists Phase 2
49 Analgesics Phase 2
50 Analgesics, Non-Narcotic Phase 2

Interventional clinical trials:

(show top 50) (show all 74)
# 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 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
4 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
5 The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients Prospective Double-blind, Placebo-controlled, Multicentre Study, XOLMA-Study Completed NCT01333293 Phase 2, Phase 3 injections
6 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
7 A Randomized, Double-Blind, Placebo-Controlled Phase 2/3 Study of BLU-263 in Indolent Systemic Mastocytosis Recruiting NCT04910685 Phase 2, Phase 3 BLU-263;Placebo
8 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Active, not recruiting NCT03401060 Phase 3 Denosumab;Placebo
9 Hydroxychloroquine in Isolated Cutaneous Mastocytosis Patients or Indolent Systemic Mastocytosis With Associated Skin Involvement Patients: Proof of Concept Study Not yet recruiting NCT05084872 Phase 2, Phase 3 Hydroxychloroquine
10 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,
11 Multicenter, Open-Label, Single Arm Phase II Clinical Trial of Dasatinib in the Treatment of Systemic Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
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 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
14 Evaluation of RAD001 as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
15 ONTAK (Denileukin Diftitox) in Patients With Systemic Mastocytosis Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
16 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)
17 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
18 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
19 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
20 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Systemic Mastocytosis Completed NCT00006413 Phase 2
21 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
22 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
23 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
24 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)
25 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)
26 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
27 A Two Step Approach to Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation for Patients With Hematologic Malignancies Completed NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
28 A Multi-Part, Randomized, Double-Blind, Placebo-Controlled Phase 2 Clinical Study of The Safety and Efficacy of CGT9486 in Subjects With Nonadvanced Systemic Mastocytosis Recruiting NCT05186753 Phase 2 CGT9486 Tablets;Placebo Tablets
29 A Phase 2 Open-Label, Multicenter Clinical Study of the Safety, Efficacy, Pharmacokinetic, and Pharmacodynamic Profiles of CGT9486 as a Single Agent in Patients With Advanced Systemic Mastocytosis Recruiting NCT04996875 Phase 2 CGT9486 tablets
30 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
31 An Open-Label Pilot Study to Evaluate the Effectiveness and Tolerability of a Topical Composition Therapy for the Treatment of Cutaneous Mastocytosis Recruiting NCT04846348 Phase 2
32 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
33 A 24-week, Multicenter, Randomized, Double Blind, Placebo-controlled, Dose-range Finding Phase II Study to Compare Efficacy and Safety of Oral Masitinib to Placebo in Treatment of Patients With Severe Mast Cell Activation Syndrome (MCAS) With Handicap Unresponsive to Optimal Symptomatic Treatment Recruiting NCT05449444 Phase 2 Masitinib 4.5 mg/kg/day;Placebo;Masitinib 6.0 mg/kg/day
34 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
35 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 Active, not recruiting NCT03731260 Phase 2 Avapritinib;Placebo
36 A Phase 1/2, Open-label, 2-arm Study Evaluating BLU-263 as Monotherapy and in Combination With Azacitidine, in Patients With KIT Altered Hematologic Malignancies Not yet recruiting NCT05609942 Phase 1, Phase 2 BLU-263;Azacitidine
37 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
38 Evaluation of Obatoclax Mesylate as Therapy for Patients With Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
39 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 Terminated NCT03214666 Phase 1, Phase 2 GTB-3550 TriKE® Phase I;GTB-3550 TriKE® Phase II
40 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
41 A Phase 2 Study to Evaluate the Anti-Tumor Activity of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Withdrawn NCT03739606 Phase 2
42 A Multicenter Phase 1, Open-Label Study of DCC-2618 to Assess Safety, Tolerability, Efficacy, and Pharmacokinetics in Patients With Advanced Malignancies Completed NCT02571036 Phase 1 DCC-2618
43 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
44 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
45 A Phase 1, First-in-Human, Dose Escalation Study of MGD024, a CD123 x CD3 Bispecific DART Molecule, in Patients With Select Relapsed or Refractory Hematologic Malignancies Recruiting NCT05362773 Phase 1 MGD024
46 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
47 Evaluation of the Improvement of Pigmented Skin Lesions in Patients With Mastocytosis After Performing 2 Sessions of Pigment Laser : Pilot Study Conducted at a Reference Centre Mastocytoses (LaserMasto) Unknown status NCT04377828
48 Assessment of Personal, Psychosocial, Work, and Economic Burden in Patients With Mast Cell Disorders, Unknown status NCT04615663
49 Explorative Investigations on the Mechanisms of Action of Photo(Chemo)Therapy in Skin Diseases Unknown status NCT03340155
50 An External Control, Observational, Retrospective Study Assessing the Effect of Avapritinib Compared With Best Available Therapy for Patients With Advanced Systemic Mastocytosis Completed NCT04695431

Search NIH Clinical Center for Mastocytosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Cromolyn
Cromolyn Sodium

Cochrane evidence based reviews: mastocytosis

Genetic Tests for Mastocytosis

Genetic tests related to Mastocytosis:

# Genetic test Affiliating Genes
1 Mastocytosis 28

Anatomical Context for Mastocytosis

Organs/tissues related to Mastocytosis:

MalaCards : Bone Marrow, Skin, Myeloid, Bone, Spleen, Liver, Brain

Publications for Mastocytosis

Articles related to Mastocytosis:

(show top 50) (show all 4446)
# 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. 53 62 5
8589724 1996
2
KIT masters mast cells in kids, too. 53 62
20145643 2010
3
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 53 62
19865100 2010
4
CD72 negatively regulates KIT-mediated responses in human mast cells. 53 62
20100931 2010
5
Mastocytosis in children is associated with mutations in c-KIT. 53 62
20145638 2010
6
Combination of KIT gene silencing and tocopherol succinate may offer improved therapeutic approaches for human mastocytosis. 53 62
19804454 2010
7
Masitinib (AB1010), a potent and selective tyrosine kinase inhibitor targeting KIT. 53 62
19789626 2009
8
Innate cells and T helper 2 cell immunity in airway inflammation. 53 62
19766085 2009
9
Kit inhibitor APcK110 induces apoptosis and inhibits proliferation of acute myeloid leukemia cells. 53 62
19383925 2009
10
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. 53 62
19175693 2009
11
Interleukin-13 promoter gene polymorphism -1112C/T is associated with the systemic form of mastocytosis. 53 62
19178408 2009
12
Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT. 53 62
18795925 2008
13
Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation. 53 62
18567837 2008
14
Discovery of amido-benzisoxazoles as potent c-Kit inhibitors. 53 62
18723346 2008
15
Oncogenic Kit controls neoplastic mast cell growth through a Stat5/PI3-kinase signaling cascade. 53 62
18579792 2008
16
Mast cells and mastocytosis. 53 62
18684881 2008
17
Pharmacological targeting of the KIT growth factor receptor: a therapeutic consideration for mast cell disorders. 53 62
18500355 2008
18
Mixed-lineage eosinophil/basophil crisis in MDS: a rare form of progression. 53 62
18445043 2008
19
KIT regulates tyrosine phosphorylation and nuclear localization of beta-catenin in mast cell leukemia. 53 62
17949810 2008
20
KIT and mastocytosis. 53 62
18566536 2008
21
Distinct clonal origins of systemic mastocytosis and associated B-cell lymphoma. 53 62
17544505 2007
22
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). 53 62
17883734 2007
23
Mastocytosis and allergy. 53 62
17873577 2007
24
Recent advances in the understanding of mastocytosis: the role of KIT mutations. 53 62
17555444 2007
25
Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. 53 62
17551405 2007
26
Mast cell tryptase and microphthalmia transcription factor effectively discriminate cutaneous mast cell disease from myeloid leukemia cutis. 53 62
17381798 2007
27
Neoplasia driven by mutant c-KIT is mediated by intracellular, not plasma membrane, receptor signaling. 53 62
17060458 2007
28
Regulation of mast cell development by inflammatory factors. 53 62
18220740 2007
29
[Role of interleukin-9 in asthma and allergic reactions]. 53 62
18404997 2007
30
[Application of denaturing high performance liquid chromatography to mutation detection of the c-kit gene in mastocytosis]. 53 62
17096902 2006
31
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. 53 62
16741248 2006
32
Identification of c-Kit gene mutations in patients with polycythemia vera. 53 62
16460801 2006
33
Molecular diagnosis of mast cell disorders: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. 53 62
16931579 2006
34
KIT mutations in mastocytosis and their potential as therapeutic targets. 53 62
16931294 2006
35
Tryptase genetics and anaphylaxis. 53 62
16751005 2006
36
Immunohistochemical detection of histidine decarboxylase in neoplastic mast cells in patients with systemic mastocytosis. 53 62
16564918 2006
37
Evaluation of the kinase domain of c-KIT in canine cutaneous mast cell tumors. 53 62
16579858 2006
38
A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. 53 62
16183119 2006
39
Vesicular monoamine transporter 2 (VMAT2) expression in hematopoietic cells and in patients with systemic mastocytosis. 53 62
16116033 2006
40
Stem cell factor expression, mast cells and inflammation in asthma. 53 62
16448392 2006
41
The mast cell and gut nematodes: damage and defence. 53 62
16210907 2006
42
[Systemic mastocytosis]. 53 62
16334197 2005
43
KIT (CD117): a review on expression in normal and neoplastic tissues, and mutations and their clinicopathologic correlation. 53 62
16082245 2005
44
Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis. 53 62
16143141 2005
45
[Systemic mastocytosis]. 53 62
15988348 2005
46
c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation. 53 62
15858149 2005
47
Mast cell accumulation and cytokine expression in the tight skin mouse model of scleroderma. 53 62
15810888 2005
48
Molecular mechanisms of anaphylaxis: lessons from studies with murine models. 53 62
15753886 2005
49
Are gastrointestinal mucosal mast cells increased in patients with systemic mastocytosis? 53 62
15487454 2004
50
c-kit gene mutations in intracranial germinomas. 53 62
15471556 2004

Variations for Mastocytosis

ClinVar genetic disease variations for Mastocytosis:

5 (show top 50) (show all 108)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIT NM_000222.3(KIT):c.1652_1673del (p.Pro551fs) DEL Pathogenic
1319493 GRCh37: 4:55593586-55593607
GRCh38: 4:54727420-54727441
2 KIT NM_000222.3(KIT):c.2515G>A (p.Glu839Lys) SNV Pathogenic
13862 rs121913509 GRCh37: 4:55602694-55602694
GRCh38: 4:54736528-54736528
3 KIT NM_000222.3(KIT):c.-14T>A SNV Conflicting Interpretations Of Pathogenicity
255567 rs140909964 GRCh37: 4:55524168-55524168
GRCh38: 4:54658001-54658001
4 KIT NM_000222.3(KIT):c.200C>G (p.Thr67Ser) SNV Conflicting Interpretations Of Pathogenicity
Uncertain Significance
237252 rs144933028 GRCh37: 4:55561810-55561810
GRCh38: 4:54695644-54695644
5 KIT NM_000222.3(KIT):c.821C>T (p.Thr274Met) SNV Conflicting Interpretations Of Pathogenicity
41604 rs138585275 GRCh37: 4:55569954-55569954
GRCh38: 4:54703788-54703788
6 KIT NM_000222.3(KIT):c.1383A>G (p.Thr461=) SNV Conflicting Interpretations Of Pathogenicity
237242 rs151016327 GRCh37: 4:55592059-55592059
GRCh38: 4:54725893-54725893
7 KIT NM_000222.3(KIT):c.1588G>A (p.Val530Ile) SNV Conflicting Interpretations Of Pathogenicity
134621 rs72550822 GRCh37: 4:55593431-55593431
GRCh38: 4:54727265-54727265
8 KIT NM_000222.3(KIT):c.1594G>A (p.Val532Ile) SNV Conflicting Interpretations Of Pathogenicity
237248 rs55792975 GRCh37: 4:55593437-55593437
GRCh38: 4:54727271-54727271
9 KIT NM_000222.3(KIT):c.1195G>A (p.Val399Ile) SNV Conflicting Interpretations Of Pathogenicity
134629 rs143707288 GRCh37: 4:55575669-55575669
GRCh38: 4:54709503-54709503
10 KIT NM_000222.3(KIT):c.1139C>T (p.Thr380Met) SNV Uncertain Significance
409770 rs760981584 GRCh37: 4:55575613-55575613
GRCh38: 4:54709447-54709447
11 KIT NM_000222.3(KIT):c.252G>A (p.Thr84=) SNV Uncertain Significance
415776 rs56411694 GRCh37: 4:55561862-55561862
GRCh38: 4:54695696-54695696
12 KIT NM_000222.3(KIT):c.2484C>T (p.Asn828=) SNV Uncertain Significance
237263 rs141347955 GRCh37: 4:55599358-55599358
GRCh38: 4:54733192-54733192
13 KIT NM_000222.3(KIT):c.2562C>G (p.Ser854=) SNV Uncertain Significance
528556 rs750039813 GRCh37: 4:55602741-55602741
GRCh38: 4:54736575-54736575
14 KIT NM_000222.3(KIT):c.297C>T (p.Asn99=) SNV Uncertain Significance
237273 rs768599276 GRCh37: 4:55561907-55561907
GRCh38: 4:54695741-54695741
15 KIT NM_000222.3(KIT):c.52C>T (p.Leu18Phe) SNV Uncertain Significance
409759 rs370787811 GRCh37: 4:55524233-55524233
GRCh38: 4:54658066-54658066
16 KIT NM_000222.3(KIT):c.2873A>G (p.Asn958Ser) SNV Uncertain Significance
409772 rs1060502563 GRCh37: 4:55604665-55604665
GRCh38: 4:54738499-54738499
17 KIT NM_000222.3(KIT):c.2867G>A (p.Arg956Gln) SNV Uncertain Significance
409787 rs139694927 GRCh37: 4:55604659-55604659
GRCh38: 4:54738493-54738493
18 KIT NM_000222.3(KIT):c.1781C>T (p.Thr594Ile) SNV Uncertain Significance
409793 rs375351432 GRCh37: 4:55593995-55593995
GRCh38: 4:54727829-54727829
19 KIT NM_000222.3(KIT):c.1889A>G (p.His630Arg) SNV Uncertain Significance
409727 rs373554876 GRCh37: 4:55594186-55594186
GRCh38: 4:54728020-54728020
20 KIT NM_000222.3(KIT):c.2118T>G (p.Leu706=) SNV Uncertain Significance
237254 rs766840704 GRCh37: 4:55595628-55595628
GRCh38: 4:54729462-54729462
21 KIT NM_000222.3(KIT):c.2234-3C>T SNV Uncertain Significance
409785 rs370131461 GRCh37: 4:55598034-55598034
GRCh38: 4:54731868-54731868
22 KIT NM_000222.3(KIT):c.148G>T (p.Val50Leu) SNV Uncertain Significance
409722 rs200950545 GRCh37: 4:55561758-55561758
GRCh38: 4:54695592-54695592
23 KIT NM_000222.3(KIT):c.952A>G (p.Met318Val) SNV Uncertain Significance
161260 rs143388949 GRCh37: 4:55573290-55573290
GRCh38: 4:54707124-54707124
24 KIT NM_000222.3(KIT):c.978C>T (p.Asn326=) SNV Uncertain Significance
458979 rs148594615 GRCh37: 4:55573316-55573316
GRCh38: 4:54707150-54707150
25 KIT NM_000222.3(KIT):c.1185C>A (p.Ser395=) SNV Uncertain Significance
528635 rs755864184 GRCh37: 4:55575659-55575659
GRCh38: 4:54709493-54709493
26 KIT NM_000222.3(KIT):c.1264G>A (p.Val422Met) SNV Uncertain Significance
576821 rs1560414398 GRCh37: 4:55589782-55589782
GRCh38: 4:54723616-54723616
27 KIT NM_000222.3(KIT):c.2670C>T (p.Leu890=) SNV Uncertain Significance
237268 rs745967881 GRCh37: 4:55602960-55602960
GRCh38: 4:54736794-54736794
28 KIT NM_000222.3(KIT):c.1274T>A (p.Met425Lys) SNV Uncertain Significance
237238 rs878853760 GRCh37: 4:55589792-55589792
GRCh38: 4:54723626-54723626
29 KIT NM_000222.3(KIT):c.301C>T (p.His101Tyr) SNV Uncertain Significance
348954 rs781130745 GRCh37: 4:55561911-55561911
GRCh38: 4:54695745-54695745
30 KIT NM_000222.3(KIT):c.1616T>C (p.Ile539Thr) SNV Uncertain Significance
409729 rs781371383 GRCh37: 4:55593459-55593459
GRCh38: 4:54727293-54727293
31 KIT NM_000222.3(KIT):c.302A>G (p.His101Arg) SNV Uncertain Significance
458940 rs1274601103 GRCh37: 4:55561912-55561912
GRCh38: 4:54695746-54695746
32 KIT NM_000222.3(KIT):c.1553C>T (p.Pro518Leu) SNV Uncertain Significance
237245 rs569408054 GRCh37: 4:55593396-55593396
GRCh38: 4:54727230-54727230
33 KIT NM_000222.3(KIT):c.2057G>A (p.Arg686His) SNV Uncertain Significance
458902 rs143772138 GRCh37: 4:55595567-55595567
GRCh38: 4:54729401-54729401
34 KIT NM_000222.3(KIT):c.2104C>G (p.Leu702Val) SNV Uncertain Significance
409779 rs768847037 GRCh37: 4:55595614-55595614
GRCh38: 4:54729448-54729448
35 KIT NM_000222.3(KIT):c.2836C>T (p.Arg946Ter) SNV Uncertain Significance
576610 rs139000082 GRCh37: 4:55604628-55604628
GRCh38: 4:54738462-54738462
36 KIT NM_000222.3(KIT):c.2863G>T (p.Val955Leu) SNV Uncertain Significance
409783 rs1060502568 GRCh37: 4:55604655-55604655
GRCh38: 4:54738489-54738489
37 KIT NM_000222.3(KIT):c.2881G>A (p.Gly961Ser) SNV Uncertain Significance
237271 rs773828910 GRCh37: 4:55604673-55604673
GRCh38: 4:54738507-54738507
38 KIT NM_000222.3(KIT):c.*2041A>G SNV Uncertain Significance
902288 rs922217138 GRCh37: 4:55606764-55606764
GRCh38: 4:54740598-54740598
39 KIT NM_000222.3(KIT):c.-56A>C SNV Uncertain Significance
900130 rs1560366372 GRCh37: 4:55524126-55524126
GRCh38: 4:54657959-54657959
40 KIT NM_000222.3(KIT):c.*37T>C SNV Uncertain Significance
902987 rs1723067916 GRCh37: 4:55604760-55604760
GRCh38: 4:54738594-54738594
41 KIT NM_000222.3(KIT):c.*530A>G SNV Uncertain Significance
902164 rs534199544 GRCh37: 4:55605253-55605253
GRCh38: 4:54739087-54739087
42 KIT NM_000222.3(KIT):c.*575A>G SNV Uncertain Significance
903042 rs950845391 GRCh37: 4:55605298-55605298
GRCh38: 4:54739132-54739132
43 KIT NM_000222.3(KIT):c.*1190A>G SNV Uncertain Significance
903094 rs1016796314 GRCh37: 4:55605913-55605913
GRCh38: 4:54739747-54739747
44 KIT NM_000222.3(KIT):c.*2056G>A SNV Uncertain Significance
903157 rs567475861 GRCh37: 4:55606779-55606779
GRCh38: 4:54740613-54740613
45 KIT NM_000222.3(KIT):c.78A>C (p.Gln26His) SNV Uncertain Significance
857769 rs764782713 GRCh37: 4:55561688-55561688
GRCh38: 4:54695522-54695522
46 KIT NM_000222.3(KIT):c.2757A>T (p.Gln919His) SNV Uncertain Significance
657250 rs770617877 GRCh37: 4:55603401-55603401
GRCh38: 4:54737235-54737235
47 KIT NM_000222.3(KIT):c.2294A>G (p.Asp765Gly) SNV Uncertain Significance
409730 rs1060502545 GRCh37: 4:55598097-55598097
GRCh38: 4:54731931-54731931
48 KIT NM_000222.3(KIT):c.2887A>G (p.Thr963Ala) SNV Uncertain Significance
409774 rs773709702 GRCh37: 4:55604679-55604679
GRCh38: 4:54738513-54738513
49 KIT NM_000222.3(KIT):c.2900C>G (p.Ser967Cys) SNV Uncertain Significance
458936 rs1232060384 GRCh37: 4:55604692-55604692
GRCh38: 4:54738526-54738526
50 KIT NM_000222.3(KIT):c.*1086C>T SNV Uncertain Significance
348967 rs533152310 GRCh37: 4:55605809-55605809
GRCh38: 4:54739643-54739643

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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
2
Show member pathways
13.55 CD2 IFNA2 IL13 IL2RA JAK2 KIT
3
Show member pathways
13.34 CD2 IFNA2 IL13 IL2RA JAK2 KIT
4
Show member pathways
13.27 FIP1L1 IL2RA JAK2 KIT KITLG PDGFRA
5
Show member pathways
13.23 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
6
Show member pathways
13 PDGFRB PDGFRA NTRK3 KITLG KIT IL2RA
7
Show member pathways
12.92 IL2RA JAK2 KIT KITLG NTRK3 PDGFRA
8
Show member pathways
12.88 CD2 IL13 IL2RA JAK2 KIT KITLG
9
Show member pathways
12.81 PDGFRB PDGFRA KITLG KIT JAK2 IL2RA
10
Show member pathways
12.77 PDGFRB PDGFRA KITLG KIT JAK2
11 12.72 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
12 12.63 ASXL1 KIT KITLG PDGFRA PDGFRB
13 12.49 KITLG KIT JAK2 IL2RA CD2
14
Show member pathways
12.33 KIT KITLG NTRK3 PDGFRA PDGFRB
15
Show member pathways
12.32 PDGFRB PDGFRA NTRK3 IL2RA IL13
16 12.18 RASGRP4 PDGFRB PDGFRA KIT
17
Show member pathways
12.14 PDGFRB PDGFRA NTRK3 IL2RA
18 11.99 PDGFRB MITF KLRG1 KITLG
19
Show member pathways
11.91 MITF KITLG KIT JAK2
20 11.9 KIT JAK2 HDC
21
Show member pathways
11.83 KITLG KIT JAK2
22 11.82 PDGFRB PDGFRA KITLG KIT JAK2
23 11.8 PDGFRA IL2RA IL13
24
Show member pathways
11.79 PDGFRB PDGFRA KIT
25
Show member pathways
11.78 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
26 11.73 KIT IL2RA IL13
27 11.66 PDGFRB PDGFRA NTRK3 KITLG
28
Show member pathways
11.61 PDGFRB PDGFRA KIT
29 11.44 JAK2 IL2RA IL13
30 11.43 PDGFRB PDGFRA NTRK3
31 11.42 KITLG KIT IL2RA IFNA2 CD2
32 11.37 MITF KITLG KIT
33 11.36 PDGFRB NTRK3 JAK2 IL2RA
34
Show member pathways
11.27 PDGFRB PDGFRA KIT
35 10.95 PDGFRB PDGFRA KIT
36 10.84 PDGFRB JAK2
37 10.82 PDGFRB PDGFRA NTRK3 KITLG KIT IL13

GO Terms for Mastocytosis

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.28 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
2 positive regulation of cell migration GO:0030335 10.27 PDGFRB PDGFRA NTRK3 KIT JAK2
3 positive regulation of MAPK cascade GO:0043410 10.08 PDGFRB PDGFRA KIT JAK2
4 positive regulation of MAP kinase activity GO:0043406 10.03 PDGFRB NTRK3 KITLG KIT
5 platelet-derived growth factor receptor signaling pathway GO:0048008 10.02 PDGFRB PDGFRA JAK2
6 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 10.01 PDGFRB PDGFRA KIT
7 positive regulation of kinase activity GO:0033674 10.01 PDGFRB PDGFRA NTRK3 KIT
8 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.96 KIT NTRK3 PDGFRA PDGFRB RASGRP4
9 response to organic cyclic compound GO:0014070 9.95 TET2 PDGFRB KITLG JAK2
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.92 KIT JAK2 IL13 IFNA2
11 retina vasculature development in camera-type eye GO:0061298 9.91 PDGFRB PDGFRA
12 mast cell proliferation GO:0070662 9.87 KIT KITLG
13 positive regulation of mast cell proliferation GO:0070668 9.86 KIT KITLG
14 myeloid cell differentiation GO:0030099 9.85 JAK2 RASGRP4 TET2
15 melanocyte migration GO:0097324 9.83 KITLG KIT
16 metanephric glomerular capillary formation GO:0072277 9.81 PDGFRB PDGFRA
17 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.8 PDGFRB PDGFRA
18 multicellular organism development GO:0007275 9.67 PDGFRB PDGFRA NTRK3 KIT
19 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 PDGFRB PDGFRA NTRK3 KIT JAK2
20 positive regulation of phospholipase C activity GO:0010863 9.63 PDGFRB PDGFRA KIT
21 positive regulation of protein modification process GO:0031401 9.59 PDGFRB KIT
22 peptidyl-tyrosine phosphorylation GO:0018108 9.4 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2

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

# Name GO ID Score Top Affiliating Genes
1 vascular endothelial growth factor binding GO:0038085 9.56 PDGFRB PDGFRA
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.56 PDGFRB PDGFRA NTRK3 KIT
3 cytokine receptor binding GO:0005126 9.46 JAK2 IL13 IFNA2
4 protein tyrosine kinase activity GO:0004713 9.23 PDGFRB PDGFRA NTRK3 KIT JAK2

Sources for Mastocytosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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