MCID: MST009
MIFTS: 63

Mastocytosis

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Mastocytosis

Summaries for Mastocytosis

NIH Rare Diseases : 52 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 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, skin and bone marrow, and related phenotypes are pruritus and macule

Wikipedia : 74 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 512)
# Related Disease Score Top Affiliating Genes
1 mastocytosis, cutaneous 34.4 TET2 PDGFRA KITLG KIT HDC FIP1L1
2 systemic mastocytosis with associated hematologic neoplasm 34.1 TET2 SRSF2 KIT ASXL1
3 aggressive systemic mastocytosis 33.8 PDGFRA KITLG KIT IFNA2 FIP1L1 CD2
4 indolent systemic mastocytosis 33.5 TPSAB1 TET2 SRSF2 KITLG KIT FIP1L1
5 systemic mastocytosis 33.0 TPSAB1 TET2 SRSF2 PDGFRB PDGFRA KITLG
6 mast-cell leukemia 32.9 RASGRP4 NTRK3 KLRG1 KITLG KIT
7 gastrointestinal stromal tumor 32.5 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
8 sm-ahnmd 32.3 TET2 SRSF2 PDGFRA KITLG KIT JAK2
9 mast cell neoplasm 31.1 KITLG KIT HDC FIP1L1 CD2
10 mast-cell sarcoma 30.9 KITLG KIT FIP1L1 CD2
11 thrombocytosis 30.9 TET2 KITLG JAK2 ASXL1
12 extracutaneous mastocytoma 30.9 TET2 SRSF2 KITLG KIT FIP1L1 CD2
13 dowling-degos disease 1 30.8 MITF KITLG KIT
14 hematologic cancer 30.8 PDGFRB KITLG KIT JAK2 IL2RA
15 myelodysplastic syndrome 30.8 TET2 SRSF2 PDGFRB KITLG KIT JAK2
16 chronic myelomonocytic leukemia 30.6 TET2 SRSF2 PDGFRB PDGFRA KIT JAK2
17 essential thrombocythemia 30.6 TET2 KIT JAK2 IFNA2 ASXL1
18 hypereosinophilic syndrome 30.6 PDGFRB PDGFRA KIT JAK2 IL2RA IL13
19 leukemia, acute myeloid 30.5 TET2 SRSF2 PDGFRB PDGFRA KITLG KIT
20 myeloproliferative neoplasm 30.5 TET2 PDGFRB PDGFRA KITLG KIT JAK2
21 polycythemia 30.5 TET2 KITLG JAK2 ASXL1
22 myelofibrosis 30.4 TET2 SRSF2 PDGFRB KIT JAK2 IL2RA
23 severe combined immunodeficiency 30.4 KITLG KIT IL2RA IL13
24 piebald trait 30.4 PDGFRA MITF KITLG KIT
25 sarcoma 30.4 PDGFRB PDGFRA KIT JAK2 IFNA2
26 dysgerminoma 30.4 KITLG KIT IL2RA
27 core binding factor acute myeloid leukemia 30.3 KIT JAK2
28 hypereosinophilic syndrome, idiopathic 30.3 PDGFRB PDGFRA KIT FIP1L1
29 pdgfra-associated chronic eosinophilic leukemia 30.3 PDGFRA FIP1L1
30 chronic eosinophilic leukemia 30.3 TET2 PDGFRB PDGFRA KIT JAK2 FIP1L1
31 mucosal melanoma 30.2 MITF KIT IFNA2
32 refractory anemia 30.2 TET2 ASXL1
33 budd-chiari syndrome 30.1 PDGFRA JAK2 FIP1L1
34 neurofibroma 30.1 PDGFRA MITF KITLG KIT
35 fibrosarcoma 30.0 PDGFRA NTRK3 KIT JAK2
36 myelodysplastic/myeloproliferative neoplasm 29.9 TET2 SRSF2 PDGFRB JAK2 ASXL1
37 atypical chronic myeloid leukemia 29.8 TET2 SRSF2 PDGFRB PDGFRA JAK2 ASXL1
38 leukemia, chronic myeloid 29.5 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
39 polycythemia vera 29.4 TET2 PDGFRB PDGFRA KITLG KIT JAK2
40 renal cell carcinoma, nonpapillary 29.3 PDGFRB PDGFRA MITF KIT IL2RA IL13
41 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.5
42 cutaneous mastocytosis, conductive hearing loss and microtia 12.4
43 bullous diffuse cutaneous mastocytosis 12.4
44 pseudoxanthomatous diffuse cutaneous mastocytosis 12.3
45 isolated bone marrow mastocytosis 12.3
46 smoldering systemic mastocytosis 12.3
47 telangiectasia macularis eruptive perstans 12.2
48 obsolete: lymphoadenopathic mastocytosis with eosinophilia 12.1
49 cutaneous mastocytoma 11.8
50 mastocytic enterocolitis 11.7

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 pruritus 31 hallmark (90%) HP:0000989
2 macule 31 hallmark (90%) HP:0012733
3 abnormality of skin pigmentation 31 hallmark (90%) HP:0001000
4 urticaria 31 hallmark (90%) HP:0001025
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 arrhythmia 31 occasional (7.5%) HP:0011675
17 telangiectasia of the skin 31 occasional (7.5%) HP:0100585
18 gastrointestinal hemorrhage 31 occasional (7.5%) HP:0002239
19 cough 31 occasional (7.5%) HP:0012735
20 anorexia 31 occasional (7.5%) HP:0002039
21 sarcoma 31 occasional (7.5%) HP:0100242
22 asthma 31 occasional (7.5%) HP:0002099
23 recurrent fractures 31 occasional (7.5%) HP:0002757
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:


pruritus, exanthema

MGI Mouse Phenotypes related to Mastocytosis:

45 (show all 12)
# 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 cardiovascular system MP:0005385 10.21 IL2RA JAK2 KIT KITLG NTRK3 PDGFRA
5 endocrine/exocrine gland MP:0005379 10.2 ASXL1 IL13 IL2RA JAK2 KIT KITLG
6 immune system MP:0005387 10.18 ASXL1 HDC IL13 IL2RA JAK2 KIT
7 digestive/alimentary MP:0005381 10.13 ASXL1 IL13 IL2RA KIT KITLG PDGFRA
8 mortality/aging MP:0010768 10.13 ASXL1 IL13 IL2RA JAK2 KIT KITLG
9 normal MP:0002873 9.81 CD2 JAK2 KIT KLRG1 MITF NTRK3
10 no phenotypic analysis MP:0003012 9.8 HDC IL13 KIT MITF NTRK3 PDGFRA
11 skeleton MP:0005390 9.65 ASXL1 IL13 IL2RA JAK2 KIT KITLG
12 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 111)
# 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
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 2-chloro-3'-deoxyadenosine Phase 3
7 Proton Pump Inhibitors Phase 3
8 Histamine Antagonists Phase 3
9 Leukotriene Antagonists Phase 3
10 Histamine H1 Antagonists Phase 3
11 Antidepressive Agents Phase 3
12 interferons Phase 3
13 Interferon-alpha Phase 3
14 Anti-Allergic Agents Phase 2, Phase 3
15 Pharmaceutical Solutions Phase 3
16
midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
17
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
18
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
19
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
20
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
21
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
22
Secretin Approved Phase 1, Phase 2 108153-74-8
23
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
24
Racepinephrine Approved Phase 2 329-65-7 838
25
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
26
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
27
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
28
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
29
Busulfan Approved, Investigational Phase 2 55-98-1 2478
30
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
31
Mycophenolic acid Approved Phase 2 24280-93-1 446541
32
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
33 Staurosporine Experimental Phase 2 62996-74-1
34
Obatoclax Investigational Phase 2 803712-67-6
35 Angiogenesis Inhibitors Phase 2
36 Hormone Antagonists Phase 1, Phase 2
37 Hormones Phase 1, Phase 2
38 Interleukin-2 Phase 2
39 Analgesics, Non-Narcotic Phase 2
40 Analgesics Phase 2
41 Antifungal Agents Phase 2
42 Gastrointestinal Agents Phase 1, Phase 2
43 Neurotransmitter Agents Phase 2
44 Autonomic Agents Phase 2
45 Nutrients Phase 1, Phase 2
46 Sympathomimetics Phase 2
47 Adrenergic Agonists Phase 2
48 Epinephryl borate Phase 2
49 Adrenergic beta-Agonists Phase 2
50 Vasoconstrictor Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 69)
# 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 The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients Prospective Double-blind, Placebo-controlled, Multicentre Study, XOLMA-Study Completed NCT01333293 Phase 2, Phase 3 injections
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 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,
8 Multicenter, Open-Label, Single Arm Phase II Clinical Trial of Dasatinib in the Treatment of Systemic Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
9 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
10 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
11 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
12 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)
13 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)
14 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
15 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
16 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
17 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
18 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Systemic Mastocytosis Completed NCT00006413 Phase 2
19 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
20 ONTAK (Denileukin Diftitox) in Patients With Systemic Mastocytosis Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
21 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
22 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)
23 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
24 Evaluation of RAD001 as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
25 Effect of Secretin on Gastric Accommodation, Emptying and Post-nutrient Challenge Symptoms in Functional Dyspepsia and Healthy Subjects Completed NCT03617861 Phase 1, Phase 2 Human Secretin;Placebo
26 Phase IIA Study of the Safety and Tolerability of the Use of Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
27 A Randomized Double-Blinded, Placebo-Controlled Study of Omalizumab for Idiopathic Anaphylaxis Completed NCT00890162 Phase 2 Epinephrine;Omalizumab (Xolair);Placebos
28 Evaluation of the Efficacy of Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Completed NCT01824615 Phase 2 Sunitinib
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 Recruiting NCT03580655 Phase 2 Avapritinib
30 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
31 SL-401 in Patients With Advanced, High Risk Myeloproliferative Neoplasms (Systemic Mastocytosis, Advanced Symptomatic Primary Eosinophilic Disorder, Myelofibrosis, Chronic Myelomonocytic Leukemia) Recruiting NCT02268253 Phase 1, Phase 2 SL-401
32 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
33 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
34 A Two Step Approach to Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation for Patients With Hematologic Malignancies Recruiting NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
35 Cromoglycate Adjunctive Therapy for Outpatients With Schizophrenia Recruiting NCT03794076 Phase 1, Phase 2 Cromoglycate;Placebo
36 A Phase 2 Study to Evaluate the Anti-Tumor Activity of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Not yet recruiting NCT03739606 Phase 2
37 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
38 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
39 Evaluation of Obatoclax Mesylate as Therapy for Patients With Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
40 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
41 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
42 A Phase 1 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 Avapritinib
43 Detection of Clonal Mast Cell Disorders Among Patients With Exercise-induced Anaphylaxis Unknown status NCT01326741
44 Comparative Efficacy of Dexamethasone, Doxycycline, Nystatin and Promethazine With Triamcinolone in Orabase as Symptomatic Treatment of Oral Lichen Planus, A Randomized Controlled Trial Unknown status NCT03237533 Early Phase 1 Dexamethasone
45 Prospective Observational Study About Pregnancy and Medically Assisted Conception in Rare Diseases Unknown status NCT02450396
46 Investigation of Cellular and Molecular Pathologic Mechanisms in Mast Cell Disorders. Completed NCT00336076
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 Patient-Reported Outcome Questionnaire Development for Symptoms of Systemic Mastocytosis Completed NCT02380222
49 Determining the Pathogenesis of Systemic Pediatric-Onset Mastocytosis Completed NCT00050193
50 Evaluation of the Diagnostic Value of Level of Bone Marrow Tryptase in Adult Systemic Mastocytosis Completed NCT02441166

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 29 KIT

Anatomical Context for Mastocytosis

MalaCards organs/tissues related to Mastocytosis:

40
Bone, Skin, Bone Marrow, Myeloid, Liver, Lung, Small Intestine

Publications for Mastocytosis

Articles related to Mastocytosis:

(show top 50) (show all 3769)
# Title Authors PMID Year
1
Mast Cells, Mastocytosis, and Related Disorders. 61 52
26154789 2015
2
Familial systemic mastocytosis with germline KIT K509I mutation is sensitive to treatment with imatinib, dasatinib and PKC412. 61 52
25139846 2014
3
Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. 61 52
22892471 2013
4
CD72 negatively regulates KIT-mediated responses in human mast cells. 54 61
20100931 2010
5
Mastocytosis in children is associated with mutations in c-KIT. 54 61
20145638 2010
6
KIT masters mast cells in kids, too. 54 61
20145643 2010
7
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 54 61
19865100 2010
8
Combination of KIT gene silencing and tocopherol succinate may offer improved therapeutic approaches for human mastocytosis. 54 61
19804454 2010
9
Masitinib (AB1010), a potent and selective tyrosine kinase inhibitor targeting KIT. 54 61
19789626 2009
10
Innate cells and T helper 2 cell immunity in airway inflammation. 54 61
19766085 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. 54 61
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. 54 61
18795925 2008
15
Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation. 54 61
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. 54 61
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. 54 61
18684881 2008
20
KIT and mastocytosis. 54 61
18566536 2008
21
Distinct clonal origins of systemic mastocytosis and associated B-cell lymphoma. 54 61
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). 54 61
17883734 2007
24
Recent advances in the understanding of mastocytosis: the role of KIT mutations. 54 61
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
Regulation of mast cell development by inflammatory factors. 54 61
18220740 2007
27
Neoplasia driven by mutant c-KIT is mediated by intracellular, not plasma membrane, receptor signaling. 54 61
17060458 2007
28
[Role of interleukin-9 in asthma and allergic reactions]. 54 61
18404997 2007
29
[Application of denaturing high performance liquid chromatography to mutation detection of the c-kit gene in mastocytosis]. 54 61
17096902 2006
30
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
31
Identification of c-Kit gene mutations in patients with polycythemia vera. 54 61
16460801 2006
32
Molecular diagnosis of mast cell disorders: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. 54 61
16931579 2006
33
KIT mutations in mastocytosis and their potential as therapeutic targets. 54 61
16931294 2006
34
Tryptase genetics and anaphylaxis. 54 61
16751005 2006
35
Immunohistochemical detection of histidine decarboxylase in neoplastic mast cells in patients with systemic mastocytosis. 54 61
16564918 2006
36
Evaluation of the kinase domain of c-KIT in canine cutaneous mast cell tumors. 54 61
16579858 2006
37
A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. 54 61
16183119 2006
38
Stem cell factor expression, mast cells and inflammation in asthma. 54 61
16448392 2006
39
Vesicular monoamine transporter 2 (VMAT2) expression in hematopoietic cells and in patients with systemic mastocytosis. 54 61
16116033 2006
40
The mast cell and gut nematodes: damage and defence. 54 61
16210907 2006
41
[Systemic mastocytosis]. 54 61
16334197 2005
42
Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis. 54 61
16143141 2005
43
KIT (CD117): a review on expression in normal and neoplastic tissues, and mutations and their clinicopathologic correlation. 54 61
16082245 2005
44
[Systemic mastocytosis]. 54 61
15988348 2005
45
c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation. 54 61
15858149 2005
46
Mast cell accumulation and cytokine expression in the tight skin mouse model of scleroderma. 54 61
15810888 2005
47
Molecular mechanisms of anaphylaxis: lessons from studies with murine models. 54 61
15753886 2005
48
Are gastrointestinal mucosal mast cells increased in patients with systemic mastocytosis? 54 61
15487454 2004
49
c-kit gene mutations in intracranial germinomas. 54 61
15471556 2004
50
Bone marrow mast cell immunophenotyping in adults with mast cell disease: a prospective study of 33 patients. 54 61
15203275 2004

Variations for Mastocytosis

ClinVar genetic disease variations for Mastocytosis:

6 (show all 44) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIT NM_000222.2(KIT):c.2515G>A (p.Glu839Lys)SNV Pathogenic/Likely pathogenic 13862 rs121913509 4:55602694-55602694 4:54736528-54736528
2 KIT NM_000222.2(KIT):c.200C>G (p.Thr67Ser)SNV Conflicting interpretations of pathogenicity 237252 rs144933028 4:55561810-55561810 4:54695644-54695644
3 KIT NM_000222.2(KIT):c.2670C>T (p.Leu890=)SNV Conflicting interpretations of pathogenicity 237268 rs745967881 4:55602960-55602960 4:54736794-54736794
4 KIT NM_000222.2(KIT):c.2802+9A>GSNV Conflicting interpretations of pathogenicity 237270 rs369450271 4:55603455-55603455 4:54737289-54737289
5 KIT NM_000222.2(KIT):c.-14T>ASNV Conflicting interpretations of pathogenicity 255567 rs140909964 4:55524168-55524168 4:54658001-54658001
6 KIT NM_000222.2(KIT):c.2923G>C (p.Asp975His)SNV Uncertain significance 348956 rs373152714 4:55604715-55604715 4:54738549-54738549
7 KIT NM_000222.2(KIT):c.*368C>TSNV Uncertain significance 348962 rs886059465 4:55605091-55605091 4:54738925-54738925
8 KIT NM_000222.2(KIT):c.*597C>TSNV Uncertain significance 348964 rs746982052 4:55605320-55605320 4:54739154-54739154
9 KIT NM_000222.2(KIT):c.*1059C>TSNV Uncertain significance 348966 rs886059467 4:55605782-55605782 4:54739616-54739616
10 KIT NM_000222.2(KIT):c.*1101A>GSNV Uncertain significance 348968 rs886059468 4:55605824-55605824 4:54739658-54739658
11 KIT NM_000222.2(KIT):c.2881G>A (p.Gly961Ser)SNV Uncertain significance 237271 rs773828910 4:55604673-55604673 4:54738507-54738507
12 KIT NM_000222.2(KIT):c.1274T>A (p.Met425Lys)SNV Uncertain significance 237238 rs878853760 4:55589792-55589792 4:54723626-54723626
13 KIT NM_000222.2(KIT):c.1553C>T (p.Pro518Leu)SNV Uncertain significance 237245 rs569408054 4:55593396-55593396 4:54727230-54727230
14 KIT NM_000222.2(KIT):c.*252G>TSNV Uncertain significance 348960 rs376694515 4:55604975-55604975 4:54738809-54738809
15 KIT NM_000222.2(KIT):c.*352A>GSNV Uncertain significance 348961 rs149336515 4:55605075-55605075 4:54738909-54738909
16 KIT NM_000222.2(KIT):c.*1791G>ASNV Uncertain significance 348973 rs77842054 4:55606514-55606514 4:54740348-54740348
17 KIT NM_000222.2(KIT):c.301C>T (p.His101Tyr)SNV Uncertain significance 348954 rs781130745 4:55561911-55561911 4:54695745-54695745
18 KIT NM_000222.2(KIT):c.*198A>GSNV Uncertain significance 348958 rs886059464 4:55604921-55604921 4:54738755-54738755
19 KIT NM_000222.2(KIT):c.*1086C>TSNV Uncertain significance 348967 rs533152310 4:55605809-55605809 4:54739643-54739643
20 KIT NM_000222.2(KIT):c.*1487_*1490deldeletion Uncertain significance 348970 rs374796688 4:55606208-55606211 4:54740042-54740045
21 KIT NM_000222.2(KIT):c.*1808A>GSNV Uncertain significance 348974 rs762662037 4:55606531-55606531 4:54740365-54740365
22 KIT NM_000222.2(KIT):c.*393A>GSNV Uncertain significance 348963 rs886059466 4:55605116-55605116 4:54738950-54738950
23 KIT NM_000222.2(KIT):c.*790A>GSNV Uncertain significance 348965 rs189995563 4:55605513-55605513 4:54739347-54739347
24 KIT NM_000222.2(KIT):c.2104C>G (p.Leu702Val)SNV Uncertain significance 409779 rs768847037 4:55595614-55595614 4:54729448-54729448
25 KIT NM_000222.2(KIT):c.2294A>G (p.Asp765Gly)SNV Uncertain significance 409730 rs1060502545 4:55598097-55598097 4:54731931-54731931
26 KIT NM_000222.2(KIT):c.1616T>C (p.Ile539Thr)SNV Uncertain significance 409729 rs781371383 4:55593459-55593459 4:54727293-54727293
27 KIT NM_000222.2(KIT):c.2863G>T (p.Val955Leu)SNV Uncertain significance 409783 rs1060502568 4:55604655-55604655 4:54738489-54738489
28 KIT NM_000222.2(KIT):c.2887A>G (p.Thr963Ala)SNV Uncertain significance 409774 rs773709702 4:55604679-55604679 4:54738513-54738513
29 KIT NM_000222.2(KIT):c.2900C>G (p.Ser967Cys)SNV Uncertain significance 458936 rs1232060384 4:55604692-55604692 4:54738526-54738526
30 KIT NM_000222.2(KIT):c.302A>G (p.His101Arg)SNV Uncertain significance 458940 rs1274601103 4:55561912-55561912 4:54695746-54695746
31 KIT NM_000222.2(KIT):c.2057G>A (p.Arg686His)SNV Uncertain significance 458902 rs143772138 4:55595567-55595567 4:54729401-54729401
32 KIT NM_000222.2(KIT):c.2836C>T (p.Arg946Ter)SNV Uncertain significance 576610 rs139000082 4:55604628-55604628 4:54738462-54738462
33 KIT NM_000222.2(KIT):c.*1524A>GSNV Likely benign 348971 rs17084736 4:55606247-55606247 4:54740081-54740081
34 KIT NM_000222.2(KIT):c.*1241G>ASNV Likely benign 348969 rs114377961 4:55605964-55605964 4:54739798-54739798
35 KIT NM_000222.2(KIT):c.*1704G>TSNV Likely benign 348972 rs8022 4:55606427-55606427 4:54740261-54740261
36 KIT NM_000222.2(KIT):c.*149C>TSNV Likely benign 348957 rs2213181 4:55604872-55604872 4:54738706-54738706
37 KIT NM_000222.2(KIT):c.1638A>G (p.Lys546=)SNV Benign/Likely benign 255569 rs55986963 4:55593481-55593481 4:54727315-54727315
38 KIT NM_000222.2(KIT):c.2394C>T (p.Ile798=)SNV Benign/Likely benign 255571 rs55789615 4:55599268-55599268 4:54733102-54733102
39 KIT NM_000222.2(KIT):c.2586G>C (p.Leu862=)SNV Benign/Likely benign 255572 rs3733542 4:55602765-55602765 4:54736599-54736599
40 KIT NM_000222.2(KIT):c.2847C>T (p.Pro949=)SNV Benign/Likely benign 348955 rs56288823 4:55604639-55604639 4:54738473-54738473
41 KIT NM_000222.2(KIT):c.1621A>C (p.Met541Leu)SNV Benign/Likely benign 41599 rs3822214 4:55593464-55593464 4:54727298-54727298
42 KIT NM_000222.2(KIT):c.252G>T (p.Thr84=)SNV Benign/Likely benign 220764 rs56411694 4:55561862-55561862 4:54695696-54695696
43 KIT NM_000222.2(KIT):c.1119C>T (p.Tyr373=)SNV Benign/Likely benign 221149 rs72549293 4:55575593-55575593 4:54709427-54709427
44 KIT NM_000222.2(KIT):c.1794A>T (p.Gly598=)SNV Benign/Likely benign 220914 rs72549292 4:55594008-55594008 4:54727842-54727842

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
13.41 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
12.11 MITF KITLG KIT JAK2
19 12.05 RASGRP4 PDGFRB PDGFRA MITF KITLG KIT
20
Show member pathways
12 PDGFRB PDGFRA JAK2 IL2RA IL13 IFNA2
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 11.72 KITLG KIT IL2RA IFNA2 CD2
27 11.6 PDGFRB PDGFRA NTRK3 KIT
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 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.01 PDGFRB PDGFRA NTRK3 KITLG KIT JAK2
2 cytokine-mediated signaling pathway GO:0019221 9.92 KIT JAK2 IL2RA IL13 IFNA2
3 cell surface receptor signaling pathway GO:0007166 9.9 KLRG1 IL2RA IFNA2 CD2
4 positive regulation of protein kinase B signaling GO:0051897 9.86 PDGFRB PDGFRA KITLG KIT
5 protein autophosphorylation GO:0046777 9.85 PDGFRB PDGFRA KIT JAK2
6 male gonad development GO:0008584 9.8 PDGFRB KITLG KIT
7 positive regulation of cell migration GO:0030335 9.8 PDGFRB PDGFRA NTRK3 KIT JAK2
8 cell chemotaxis GO:0060326 9.78 PDGFRB PDGFRA KIT
9 hematopoietic progenitor cell differentiation GO:0002244 9.77 PDGFRB PDGFRA KIT
10 positive regulation of MAP kinase activity GO:0043406 9.75 PDGFRB KITLG KIT
11 peptidyl-tyrosine phosphorylation GO:0018108 9.72 PDGFRB PDGFRA NTRK3 KIT 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 embryonic hemopoiesis GO:0035162 9.62 KITLG KIT
17 cardiac myofibril assembly GO:0055003 9.62 PDGFRB PDGFRA
18 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.61 PDGFRB JAK2
19 positive regulation of Ras protein signal transduction GO:0046579 9.61 RASGRP4 KITLG JAK2
20 retina vasculature development in camera-type eye GO:0061298 9.58 PDGFRB PDGFRA
21 ectopic germ cell programmed cell death GO:0035234 9.57 KITLG KIT
22 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.55 PDGFRB PDGFRA NTRK3 KIT JAK2
23 metanephric glomerular capillary formation GO:0072277 9.51 PDGFRB PDGFRA
24 MAPK cascade GO:0000165 9.5 RASGRP4 PDGFRB PDGFRA KITLG KIT JAK2
25 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.49 PDGFRB PDGFRA
26 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 10.11 TPSAB1 TET2 SRSF2 PDGFRB PDGFRA NTRK3
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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