MCID: MST017
MIFTS: 63

Mast Cell Disease

Categories: Genetic diseases, Rare diseases, Skin diseases, Blood diseases

Aliases & Classifications for Mast Cell Disease

MalaCards integrated aliases for Mast Cell Disease:

Name: Mast Cell Disease 57 76 53 13 40
Mastocytosis 57 12 76 53 29 55 6 44 15 73
Urticaria Pigmentosa 59 73
Maculopapular Cutaneous Mastocytosis 59
Mast Cell Hyperplasia 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
mast cell disease:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mast Cell Disease

OMIM : 57 Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010). (154800)

MalaCards based summary : Mast Cell Disease, also known as mastocytosis, is related to urticaria pigmentosa and chronic myelomonocytic leukemia, and has symptoms including exanthema, pruritus and macule. An important gene associated with Mast Cell Disease is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Protein Kinase Inhibitors and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are nausea and vomiting and pruritus

NIH Rare Diseases : 53 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. 

Wikipedia : 76 A mast cell (also known as a mastocyte or a labrocyte) is a type of white blood cell. Specifically, it... more...

Related Diseases for Mast Cell Disease

Diseases related to Mast Cell Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 urticaria pigmentosa 30.9 KIT KITLG
2 chronic myelomonocytic leukemia 30.0 KIT PDGFRB TET2
3 chronic eosinophilic leukemia 29.8 KIT PDGFRA PDGFRB
4 systemic mastocytosis 29.5 CD2 IFNA2 KIT KITLG PDGFRA PDGFRB
5 hypereosinophilic syndrome 28.2 IL13 IL5 KIT PDGFRA PDGFRB
6 asthma 25.7 CD44 IL13 IL5 IL9 KITLG MPO
7 cutaneous ganglioneuroma 10.8 KIT MITF
8 mast-cell sarcoma 10.8 KIT MPO
9 malignant spindle cell melanoma 10.8 KIT MITF
10 breast angiosarcoma 10.8 KIT MITF
11 prostate leiomyosarcoma 10.8 CD44 KIT
12 superficial keratitis 10.8 CD44 IFNA2
13 reticular perineurioma 10.8 KIT PDGFRA
14 waardenburg syndrome, type 2e 10.7 KITLG MITF
15 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.7 KIT MPO
16 gastric leiomyosarcoma 10.7 KIT PDGFRA
17 conventional fibrosarcoma 10.7 KIT PDGFRA
18 warthin tumor 10.7 CD44 KIT
19 endometrial small cell carcinoma 10.7 KIT PDGFRA
20 pulmonary vein stenosis 10.7 KIT PDGFRA
21 undifferentiated pleomorphic sarcoma 10.6 KIT PDGFRA
22 primary hypereosinophilic syndrome 10.6 PDGFRA PDGFRB
23 extracutaneous mastocytoma 10.6 CD2 KIT
24 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.6 PDGFRA PDGFRB
25 lung adenoid cystic carcinoma 10.5 KIT PDGFRA
26 carney triad 10.5 KIT PDGFRA
27 aggressive systemic mastocytosis 10.5 IFNA2 KIT KITLG
28 inflammatory bowel disease 16 10.5 CD2 CD44
29 dowling-degos disease 1 10.5 KIT KITLG MITF
30 sarcomatoid renal cell carcinoma 10.5 IFNA2 KIT PDGFRA
31 cell type cancer 10.5 CD44 KIT MITF
32 mucosal melanoma 10.5 KIT MITF
33 waardenburg's syndrome 10.4 KIT KITLG MITF
34 essential thrombocythemia 10.4 IFNA2 MPO TET2
35 loeffler endocarditis 10.4 IL5 PDGFRA
36 gastrointestinal system cancer 10.4 CD44 KIT PDGFRA
37 desmoid tumor 10.3 KIT PDGFRA PDGFRB
38 heart sarcoma 10.3 KIT PDGFRA PDGFRB
39 fibrosarcoma of bone 10.3 KIT PDGFRA PDGFRB
40 leukemia, acute lymphoblastic 3 10.3 KITLG MPO PDGFRA
41 dermatofibrosarcoma protuberans 10.3 KIT PDGFRA PDGFRB
42 leiomyosarcoma 10.3 KIT PDGFRA PDGFRB
43 follicular mucinosis 10.3 CD2 IFNA2 TET2
44 myelofibrosis 10.2 IFNA2 KIT TET2
45 trichinosis 10.2 IL5 IL9
46 cutaneous solitary mastocytoma 10.2 CD2 KIT KITLG
47 mesenchymal cell neoplasm 10.2 KIT PDGFRA
48 sm-ahnmd 10.2 CD2 KIT PDGFRA
49 corneal dystrophy, subepithelial mucinous 10.2 PDGFRA PDGFRB
50 juvenile myelomonocytic leukemia 10.2 PDGFRA PDGFRB TET2

Graphical network of the top 20 diseases related to Mast Cell Disease:



Diseases related to Mast Cell Disease

Symptoms & Phenotypes for Mast Cell Disease

Symptoms via clinical synopsis from OMIM:

57
Skin:
cutaneous mastocytosis
urticaria pigmentosa
hyperpigmented macules or papules showing erythema or edema on trauma
bullous mastocytosis
telangiectasia macularis eruptiva perstans

Misc:
systemic mastocytosis may affect bone, gi tract, lymphatics, spleen, and liver


Clinical features from OMIM:

154800

Human phenotypes related to Mast Cell Disease:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
2 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
3 telangiectasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0100585
4 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
5 macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0012733
6 hypermelanotic macule 59 32 Very frequent (99-80%) HP:0001034
7 cutaneous mastocytosis 59 32 Very frequent (99-80%) HP:0200151
8 respiratory insufficiency 32 occasional (7.5%) HP:0002093
9 hypotension 32 occasional (7.5%) HP:0002615
10 splenomegaly 32 occasional (7.5%) HP:0001744
11 hepatomegaly 32 occasional (7.5%) HP:0002240
12 fatigue 32 occasional (7.5%) HP:0012378
13 osteoporosis 32 occasional (7.5%) HP:0000939
14 dyspnea 59 Frequent (79-30%)
15 arrhythmia 32 occasional (7.5%) HP:0011675
16 abnormal blistering of the skin 32 frequent (33%) HP:0008066
17 anorexia 32 occasional (7.5%) HP:0002039
18 sarcoma 32 occasional (7.5%) HP:0100242
19 asthma 32 occasional (7.5%) HP:0002099
20 gastrointestinal hemorrhage 32 occasional (7.5%) HP:0002239
21 recurrent fractures 32 occasional (7.5%) HP:0002757
22 hypercalcemia 32 occasional (7.5%) HP:0003072
23 erythema 32 HP:0010783
24 cough 32 occasional (7.5%) HP:0012735
25 urticaria 32 hallmark (90%) HP:0001025
26 acute leukemia 32 occasional (7.5%) HP:0002488
27 chronic leukemia 32 occasional (7.5%) HP:0005558
28 headache 59 Frequent (79-30%)
29 papule 59 Very frequent (99-80%)
30 abnormality of skin pigmentation 32 hallmark (90%) HP:0001000
31 cardiac arrest 59 Frequent (79-30%)
32 mastocytosis 32 hallmark (90%) HP:0100495
33 angioedema 32 occasional (7.5%) HP:0100665
34 skin nodule 59 Occasional (29-5%)
35 skin plaque 59 Very frequent (99-80%)
36 rhinitis 59 Frequent (79-30%)
37 impaired temperature sensation 32 frequent (33%) HP:0010829
38 telangiectasia macularis eruptiva perstans 32 HP:0007583

UMLS symptoms related to Mast Cell Disease:


exanthema, pruritus, macule, darier's sign

MGI Mouse Phenotypes related to Mast Cell Disease:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.22 PDGFRB MITF MPO TET2 PDGFRA KIT
2 immune system MP:0005387 10.17 PDGFRB MITF MPO TET2 PDGFRA KIT
3 homeostasis/metabolism MP:0005376 10.16 PDGFRB MITF MPO PDGFRA KITLG IL9
4 growth/size/body region MP:0005378 10.15 KITLG PDGFRB MITF TET2 PDGFRA CD44
5 digestive/alimentary MP:0005381 10.13 PDGFRB PDGFRA KIT IL13 KITLG IL5
6 endocrine/exocrine gland MP:0005379 10.11 PDGFRB MITF TET2 PDGFRA CD44 KIT
7 integument MP:0010771 9.95 PDGFRB MITF PDGFRA KITLG CD44 KIT
8 limbs/digits/tail MP:0005371 9.85 PDGFRB MITF PDGFRA CD44 KIT KITLG
9 muscle MP:0005369 9.8 PDGFRB MPO PDGFRA CD44 KIT IL13
10 normal MP:0002873 9.76 PDGFRB MITF TET2 PDGFRA IL9 KIT
11 neoplasm MP:0002006 9.73 TET2 PDGFRA CD44 KIT KITLG IL5
12 reproductive system MP:0005389 9.56 PDGFRB MITF PDGFRA KIT IL13 KITLG
13 skeleton MP:0005390 9.17 PDGFRB MITF PDGFRA KITLG CD44 KIT

Drugs & Therapeutics for Mast Cell Disease

Drugs for Mast Cell Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 133)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protein Kinase Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
2 Imatinib Mesylate Phase 4,Phase 1,Phase 2,Not Applicable 220127-57-1 123596
3
Omalizumab Approved, Investigational Phase 2, Phase 3 242138-07-4
4
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
5
Denosumab Approved Phase 3 615258-40-7
6 Bone Density Conservation Agents Phase 3
7 Anti-Allergic Agents Phase 2, Phase 3
8 Anti-Asthmatic Agents Phase 2, Phase 3
9 Respiratory System Agents Phase 2, Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
11 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
12 Pharmaceutical Solutions Phase 3,Phase 2
13
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
14
Sunitinib Approved, Investigational Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
15
Everolimus Approved Phase 2 159351-69-6 6442177
16
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
17
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
18
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
19
Fludarabine Approved Phase 2,Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
20
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
21
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
22
Iron Approved Phase 2 7439-89-6 23925
23
Acetaminophen Approved Phase 2 103-90-2 1983
24
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
25
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
26
Granisetron Approved, Investigational Phase 2 109889-09-0 3510
27
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
28
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
29
Lenograstim Approved, Investigational Phase 2 135968-09-1
30
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
31
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1,Not Applicable 128794-94-5 5281078
32
Mycophenolic acid Approved Phase 2,Phase 1,Not Applicable 24280-93-1 446541
33
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
34
Promethazine Approved, Investigational Phase 2 60-87-7 4927
35
rituximab Approved Phase 2 174722-31-7 10201696
36
alemtuzumab Approved, Investigational Phase 2 216503-57-0
37
Vidarabine Approved, Investigational Phase 2,Phase 1,Not Applicable 24356-66-9 32326 21704
38
Busulfan Approved, Investigational Phase 2 55-98-1 2478
39
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
40
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
41
Racepinephrine Approved Phase 2 329-65-7 838
42 tannic acid Approved, Nutraceutical Phase 2
43 Staurosporine Experimental Phase 2 62996-74-1
44
Butyric Acid Experimental, Investigational Phase 2 107-92-6 264
45 4'-N-benzoylstaurosporine Phase 2
46 Specific substance maruyama Phase 2
47 Angiogenesis Inhibitors Phase 2,Phase 1
48 Angiogenesis Modulating Agents Phase 2,Phase 1
49 Antineoplastic Agents, Hormonal Phase 2
50 Hormone Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 74)
# Name Status NCT ID Phase Drugs
1 Imatinib in KIT-negative Systemic Mastocytosis Completed NCT01297777 Phase 4 Imatinib Mesylate
2 A Phase 3 Study to Compare Efficacy and Safety of Masitinib to Placebo in the Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap Unknown status NCT00814073 Phase 3 masitinib (AB1010);placebo
3 The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients Completed NCT01333293 Phase 2, Phase 3 injections
4 Study on Mastocytosis for Rupatadine Treatment Completed NCT01481909 Phase 2, Phase 3 Rupatadin
5 Cladribine Plus Pegylated Interpheron Alfa-2a in Systemic Mastocytosis Recruiting NCT01602939 Phase 2, Phase 3 Cladribine and pegylated interpheron alpha-2a
6 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Recruiting NCT03401060 Phase 3 Denosumab;Placebo
7 Midostaurin in Indolent Systemic Mastocytosis Unknown status NCT01920204 Phase 2 Midostaurin,
8 Evaluation of Response of Dasatinib to Treat Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
9 Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Unknown status NCT01824615 Phase 2 Sunitinib
10 Treatment of Indolent Systemic Mastocytosis With PA101 Completed NCT02478957 Phase 2 PA101;Placebo
11 Everolimus (RAD001) as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
12 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
13 Masitinib in Patients With Mastocytosis With Handicap and Bearing the D816V Mutation Completed NCT01266369 Phase 2 masitinib
14 Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
15 Stem Cell Transplantation to Treat Systemic Mastocytosis Completed NCT00006413 Phase 2
16 Ontak (Denileukin Diftitox) in Patients With Systemic Mastocytosis (SM) Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
17 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2 thalidomide
18 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia Completed NCT01807598 Phase 2 brentuximab vedotin
19 Phase 2 Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia Completed NCT00233454 Phase 2 Midostaurin
20 17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Systemic Mastocytosis Completed NCT00132015 Phase 2 tanespimycin
21 Dasatinib as Therapy for Myeloproliferative Disorders (MPDs) Completed NCT00255346 Phase 2 Dasatinib (BMS-354825)
22 A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related Cancers Completed NCT00109707 Phase 1, Phase 2 Nilotinib
23 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
24 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
25 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
26 Deferasirox in Treating Iron Overload Caused By Blood Transfusions in Patients With Hematologic Malignancies Completed NCT01273766 Phase 2 deferasirox
27 Phase 2 Trial of Prophylactic Rituximab Therapy for Prevention of CGVHD Completed NCT00186628 Phase 2 Rituximab;Anti-thymoglobulin, rabbit (ATG, rabbit ATG);Cyclosporine;Mycophenylate mofetil;Filgrastim;Granisetron;Solumedrol;Acetaminophen;Diphenhydramine;Hydrocortisone
28 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by Cyclosporine and Mycophenolate Mofetil in Treating Patients Who Are Undergoing Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00118352 Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
29 SL-401 in Advanced, High Risk Myeloproliferative Neoplasms (Systemic Mastocytosis, Advanced Symptomatic Hypereosinoophic Disorder, Myelofibrosis, Chronic Myelomonocytic Leukemia) Recruiting NCT02268253 Phase 1, Phase 2 SL-401
30 A Two-Step Approach to Reduced Intensity Bone Marrow Transplant for Patients With Hematological Malignancies Recruiting NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
31 Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia Active, not recruiting NCT00782067 Phase 2 Midostaurin (PKC412)
32 A Randomized, Double-Blind, Placebo-Controlled Study of Omalizumab for Idiopathic Anaphylaxis Active, not recruiting NCT00890162 Phase 2 Epinephrine;Omalizumab (Xolair)
33 Fludarabine Phosphate, Low-Dose Total-Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine, Mycophenolate Mofetil, Donor Lymphocyte Infusion in Treating Patients With Hematopoietic Cancer Active, not recruiting NCT00006251 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
34 Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Not yet recruiting NCT03580655 Phase 2 Avapritinib
35 CD16/IL-15/CD33 Tri-Specific Killer Engagers (TriKes) for CD33+ Hem Malignancies Not yet recruiting NCT03214666 Phase 1, Phase 2 161533 Trike Phase I;161533 Trike Phase II
36 Cromoglicate in Mastocytosis Terminated NCT01701843 Phase 2 Cromoglicate;Placebo
37 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
38 Obatoclax for Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
39 Sunitinib in Treating Patients With Idiopathic Myelofibrosis Terminated NCT00387426 Phase 2 sunitinib malate
40 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1 Akt inhibitor MK2206
41 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1 sunitinib malate
42 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (advSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 Avapritinib
43 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618
44 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Active, not recruiting NCT02808793 Phase 1 AK002
45 Use of Tamoxifen in Systemic Mastocytosis Unknown status NCT01334996
46 Clonal Mast Cell Disorders in Exercise-Induced Anaphylaxis Unknown status NCT01326741
47 Molecular Mechanisms and Diagnosis of Mastocytosis Completed NCT00336076
48 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
49 Cause and Natural Course of Pediatric-Onset Mastocytosis Completed NCT00050193
50 Characteristics of Mast Cells in Mastocytosis Completed NCT00001356

Search NIH Clinical Center for Mast Cell Disease

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: mastocytosis

Genetic Tests for Mast Cell Disease

Genetic tests related to Mast Cell Disease:

# Genetic test Affiliating Genes
1 Mastocytosis 29 KIT

Anatomical Context for Mast Cell Disease

MalaCards organs/tissues related to Mast Cell Disease:

41
Skin, Bone, Bone Marrow, Liver, Myeloid, Spleen, Small Intestine

Publications for Mast Cell Disease

Articles related to Mast Cell Disease:

(show top 50) (show all 58)
# Title Authors Year
1
First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease. ( 29748908 )
2018
2
Mast Cell Disease Assessment by Flow Cytometric Analysis. ( 29128073 )
2017
3
A new era for an old cell: heightened appreciation of mast cell disease emerges. ( 27016701 )
2016
4
Hodgkin's lymphoma is a rare form of clonal haematological non-mast cell disease in systemic mastocytosis. ( 25881198 )
2015
5
Molecular basis of mast cell disease. ( 24768320 )
2015
6
Eosinophilia in mast cell disease. ( 24745679 )
2014
7
ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases. ( 24465546 )
2014
8
SF3B1 mutations are infrequently found in non-myelodysplastic bone marrow failure syndromes and mast cell diseases but, if present, are associated with the ring sideroblast phenotype. ( 23831919 )
2013
9
Clonal mast cell disease not meeting WHO criteria for diagnosis of mastocytosis: clinicopathologic features and comparison with indolent mastocytosis. ( 23896642 )
2013
10
Drug allergy in mast cell disease. ( 22744266 )
2012
11
Neurologic symptoms and diagnosis in adults with mast cell disease. ( 21664760 )
2011
12
Anaphylaxis and mast cell disease: what is the risk? ( 20425512 )
2010
13
Pediatric mast cell disease: what's the big (hematologic) deal? ( 19691105 )
2009
14
Asthma: eosinophil disease, mast cell disease, or both? ( 20525129 )
2008
15
Advanced mast cell disease: an Italian Hematological Multicenter experience. ( 19034614 )
2008
16
Detection of phospho-STAT5 in mast cells: a reliable phenotypic marker of systemic mast cell disease that reflects constitutive tyrosine kinase activation. ( 17662084 )
2007
17
Quantitative profiling of codon 816 KIT mutations can aid in the classification of systemic mast cell disease. ( 17410189 )
2007
18
Mast cell tryptase and microphthalmia transcription factor effectively discriminate cutaneous mast cell disease from myeloid leukemia cutis. ( 17381798 )
2007
19
Hypereosinophilic syndrome, chronic eosinophilic leukemia, and mast cell disease. ( 18032976 )
2007
20
Systemic mast cell disease: a rare cause of osteoporosis. ( 16762162 )
2006
21
Flow cytometric analysis of normal and neoplastic mast cells: role in diagnosis and follow-up of mast cell disease. ( 16931292 )
2006
22
First case of an AIDS patient with systemic mast cell disease associated with FIP1-positive eosinophilia treated with imatinib mesylate therapy. ( 16446324 )
2006
23
Mast cell disease: surgical and anesthetic implications. ( 16825991 )
2006
24
Repressible transgenic model of NRAS oncogene-driven mast cell disease in the mouse. ( 15831708 )
2005
25
The faces of mast cell disease: bone marrow infiltrates in 3 patients with systemic mastocytosis. ( 15806514 )
2005
26
Ultrasonographic findings in abdominal mast cell disease: a retrospective study of 19 patients. ( 15005361 )
2004
27
Clinical, genetic, and therapeutic insights into systemic mast cell disease. ( 14676628 )
2004
28
Treatment of systemic mast cell disease with 2-chlorodeoxyadenosine. ( 14654076 )
2004
29
Bone marrow mast cell immunophenotyping in adults with mast cell disease: a prospective study of 33 patients. ( 15203275 )
2004
30
Hypereosinophilic syndrome with elevated serum tryptase versus systemic mast cell disease associated with eosinophilia: 2 distinct entities? ( 14527892 )
2003
31
Immunohistochemical studies of c-kit, transforming growth factor-beta, and basic fibroblast growth factor in mast cell disease. ( 11734306 )
2002
32
Microphthalmia transcription factor expression in cutaneous mast cell disease. ( 12140449 )
2002
33
Synaptotagmin I expression in mast cells of normal human tissues, systemic mast cell disease, and a human mast cell leukemia cell line. ( 11181737 )
2001
34
Utility of paraffin section immunohistochemistry for C-KIT (CD117) in the differential diagnosis of systemic mast cell disease involving the bone marrow. ( 10632491 )
2000
35
Pulmonary manifestation of systemic mast cell disease. ( 10759463 )
2000
36
Systemic mast cell disease with marrow and splenic involvement associated with chronic myelomonocytic leukemia. ( 10037040 )
1999
37
Immunophenotype of bone marrow mast cells in indolent systemic mast cell disease in adults. ( 10706445 )
1999
38
The CD69 early activation molecule is overexpressed in human bone marrow mast cells from adults with indolent systemic mast cell disease. ( 10460598 )
1999
39
Systemic mast cell disease associated with the hypereosinophilic syndrome. ( 9443678 )
1998
40
Systemic mast cell disease associated with primary ovarian mixed malignant germ cell tumor. ( 9865846 )
1998
41
c-kit mutation and osteopetrosis-like osteopathy in a patient with systemic mast cell disease. ( 9797083 )
1998
42
Human bone marrow mast cells from indolent systemic mast cell disease constitutively express increased amounts of the CD63 protein on their surface. ( 9822308 )
1998
43
Systemic mast cell disease with splenic infarction: a case report. ( 9704348 )
1998
44
Bone marrow mast cell disease associated with Felty's syndrome and liver cirrhosis. ( 9766807 )
1998
45
Systemic mast cell disease associated with hairy cell leukaemia. ( 9250832 )
1997
46
A new c-kit mutation in a case of aggressive mast cell disease. ( 9029028 )
1997
47
Sequential immunophenotypic analysis of mast cells in a case of systemic mast cell disease evolving to a mast cell leukemia. ( 9149916 )
1997
48
Severe osteoporosis due to systemic mast cell disease: successful treatment with interferon alpha-2B. ( 8810675 )
1996
49
Immunohistochemical characterization of mast cell disease in paraffin sections using tryptase, CD68, myeloperoxidase, lysozyme, and CD20 antibodies. ( 8902835 )
1996
50
Expression of lymphoid-associated antigens in mast cells: report of a case of systemic mast cell disease. ( 8547146 )
1995

Variations for Mast Cell Disease

ClinVar genetic disease variations for Mast Cell Disease:

6
(show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIT NM_000222.2(KIT): c.252G> T (p.Thr84=) single nucleotide variant Benign/Likely benign rs56411694 GRCh37 Chromosome 4, 55561862: 55561862
2 KIT NM_000222.2(KIT): c.252G> T (p.Thr84=) single nucleotide variant Benign/Likely benign rs56411694 GRCh38 Chromosome 4, 54695696: 54695696
3 KIT NM_000222.2(KIT): c.1119C> T (p.Tyr373=) single nucleotide variant Benign/Likely benign rs72549293 GRCh38 Chromosome 4, 54709427: 54709427
4 KIT NM_000222.2(KIT): c.1119C> T (p.Tyr373=) single nucleotide variant Benign/Likely benign rs72549293 GRCh37 Chromosome 4, 55575593: 55575593
5 KIT NM_000222.2(KIT): c.1794A> T (p.Gly598=) single nucleotide variant Benign/Likely benign rs72549292 GRCh38 Chromosome 4, 54727842: 54727842
6 KIT NM_000222.2(KIT): c.1794A> T (p.Gly598=) single nucleotide variant Benign/Likely benign rs72549292 GRCh37 Chromosome 4, 55594008: 55594008
7 KIT NM_000222.2(KIT): c.200C> G (p.Thr67Ser) single nucleotide variant Uncertain significance rs144933028 GRCh38 Chromosome 4, 54695644: 54695644
8 KIT NM_000222.2(KIT): c.200C> G (p.Thr67Ser) single nucleotide variant Uncertain significance rs144933028 GRCh37 Chromosome 4, 55561810: 55561810
9 KIT NM_000222.2(KIT): c.1274T> A (p.Met425Lys) single nucleotide variant Uncertain significance rs878853760 GRCh38 Chromosome 4, 54723626: 54723626
10 KIT NM_000222.2(KIT): c.1274T> A (p.Met425Lys) single nucleotide variant Uncertain significance rs878853760 GRCh37 Chromosome 4, 55589792: 55589792
11 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh38 Chromosome 4, 54736794: 54736794
12 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh37 Chromosome 4, 55602960: 55602960
13 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh38 Chromosome 4, 54737289: 54737289
14 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh37 Chromosome 4, 55603455: 55603455
15 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Uncertain significance rs140909964 GRCh38 Chromosome 4, 54658001: 54658001
16 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Uncertain significance rs140909964 GRCh37 Chromosome 4, 55524168: 55524168
17 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh38 Chromosome 4, 54727315: 54727315
18 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh37 Chromosome 4, 55593481: 55593481
19 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh38 Chromosome 4, 54733102: 54733102
20 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh37 Chromosome 4, 55599268: 55599268
21 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Likely benign rs3733542 GRCh38 Chromosome 4, 54736599: 54736599
22 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Likely benign rs3733542 GRCh37 Chromosome 4, 55602765: 55602765
23 KIT NM_000222.2(KIT): c.2847C> T (p.Pro949=) single nucleotide variant Benign/Likely benign rs56288823 GRCh37 Chromosome 4, 55604639: 55604639
24 KIT NM_000222.2(KIT): c.2847C> T (p.Pro949=) single nucleotide variant Benign/Likely benign rs56288823 GRCh38 Chromosome 4, 54738473: 54738473
25 KIT NM_000222.2(KIT): c.2923G> C (p.Asp975His) single nucleotide variant Uncertain significance rs373152714 GRCh37 Chromosome 4, 55604715: 55604715
26 KIT NM_000222.2(KIT): c.2923G> C (p.Asp975His) single nucleotide variant Uncertain significance rs373152714 GRCh38 Chromosome 4, 54738549: 54738549
27 KIT NM_000222.2(KIT): c.*368C> T single nucleotide variant Uncertain significance rs886059465 GRCh37 Chromosome 4, 55605091: 55605091
28 KIT NM_000222.2(KIT): c.*368C> T single nucleotide variant Uncertain significance rs886059465 GRCh38 Chromosome 4, 54738925: 54738925
29 KIT NM_000222.2(KIT): c.*597C> T single nucleotide variant Uncertain significance rs746982052 GRCh37 Chromosome 4, 55605320: 55605320
30 KIT NM_000222.2(KIT): c.*597C> T single nucleotide variant Uncertain significance rs746982052 GRCh38 Chromosome 4, 54739154: 54739154
31 KIT NM_000222.2(KIT): c.*1059C> T single nucleotide variant Uncertain significance rs886059467 GRCh37 Chromosome 4, 55605782: 55605782
32 KIT NM_000222.2(KIT): c.*1059C> T single nucleotide variant Uncertain significance rs886059467 GRCh38 Chromosome 4, 54739616: 54739616
33 KIT NM_000222.2(KIT): c.*1101A> G single nucleotide variant Uncertain significance rs886059468 GRCh38 Chromosome 4, 54739658: 54739658
34 KIT NM_000222.2(KIT): c.*1101A> G single nucleotide variant Uncertain significance rs886059468 GRCh37 Chromosome 4, 55605824: 55605824
35 KIT NM_000222.2(KIT): c.*1704G> T single nucleotide variant Likely benign rs8022 GRCh38 Chromosome 4, 54740261: 54740261
36 KIT NM_000222.2(KIT): c.*1704G> T single nucleotide variant Likely benign rs8022 GRCh37 Chromosome 4, 55606427: 55606427
37 KIT NM_000222.2(KIT): c.*149C> T single nucleotide variant Likely benign rs2213181 GRCh37 Chromosome 4, 55604872: 55604872
38 KIT NM_000222.2(KIT): c.*149C> T single nucleotide variant Likely benign rs2213181 GRCh38 Chromosome 4, 54738706: 54738706
39 KIT NM_000222.2(KIT): c.*252G> T single nucleotide variant Uncertain significance rs376694515 GRCh37 Chromosome 4, 55604975: 55604975
40 KIT NM_000222.2(KIT): c.*252G> T single nucleotide variant Uncertain significance rs376694515 GRCh38 Chromosome 4, 54738809: 54738809
41 KIT NM_000222.2(KIT): c.*352A> G single nucleotide variant Uncertain significance rs149336515 GRCh37 Chromosome 4, 55605075: 55605075
42 KIT NM_000222.2(KIT): c.*352A> G single nucleotide variant Uncertain significance rs149336515 GRCh38 Chromosome 4, 54738909: 54738909
43 KIT NM_000222.2(KIT): c.*1791G> A single nucleotide variant Uncertain significance rs77842054 GRCh38 Chromosome 4, 54740348: 54740348
44 KIT NM_000222.2(KIT): c.*1791G> A single nucleotide variant Uncertain significance rs77842054 GRCh37 Chromosome 4, 55606514: 55606514
45 KIT NM_000222.2(KIT): c.301C> T (p.His101Tyr) single nucleotide variant Uncertain significance rs781130745 GRCh37 Chromosome 4, 55561911: 55561911
46 KIT NM_000222.2(KIT): c.301C> T (p.His101Tyr) single nucleotide variant Uncertain significance rs781130745 GRCh38 Chromosome 4, 54695745: 54695745
47 KIT NM_000222.2(KIT): c.*198A> G single nucleotide variant Uncertain significance rs886059464 GRCh38 Chromosome 4, 54738755: 54738755
48 KIT NM_000222.2(KIT): c.*198A> G single nucleotide variant Uncertain significance rs886059464 GRCh37 Chromosome 4, 55604921: 55604921
49 KIT NM_000222.2(KIT): c.*1086C> T single nucleotide variant Uncertain significance rs533152310 GRCh37 Chromosome 4, 55605809: 55605809
50 KIT NM_000222.2(KIT): c.*1086C> T single nucleotide variant Uncertain significance rs533152310 GRCh38 Chromosome 4, 54739643: 54739643

Expression for Mast Cell Disease

Search GEO for disease gene expression data for Mast Cell Disease.

Pathways for Mast Cell Disease

Pathways related to Mast Cell Disease according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 CD44 IFNA2 IL13 IL5 IL9 KIT
2
Show member pathways
13.72 CD2 IL13 IL5 IL9 KIT KITLG
3
Show member pathways
13.53 CD2 IFNA2 IL13 IL5 IL9 KIT
4
Show member pathways
13.29 CD2 IFNA2 IL13 IL5 IL9 KIT
5
Show member pathways
13.2 CD2 IL13 IL5 IL9 KIT KITLG
6
Show member pathways
13.1 CD2 IL13 IL5 IL9 KIT KITLG
7
Show member pathways
13.08 CD44 IFNA2 IL13 IL5 IL9 KIT
8
Show member pathways
12.93 IL9 KIT KITLG PDGFRA PDGFRB
9
Show member pathways
12.92 IL9 KIT KITLG PDGFRA PDGFRB
10
Show member pathways
12.85 IFNA2 KIT KITLG PDGFRA PDGFRB
11
Show member pathways
12.76 IFNA2 IL13 IL5 IL9 PDGFRA
12 12.64 KIT KITLG PDGFRA PDGFRB
13
Show member pathways
12.6 KIT KITLG PDGFRA PDGFRB
14
Show member pathways
12.6 KIT KITLG PDGFRA PDGFRB
15
Show member pathways
12.44 IFNA2 IL13 IL5 IL9 PDGFRA PDGFRB
16 12.41 CD2 CD44 KIT KITLG MPO
17
Show member pathways
12.33 IL13 IL5 PDGFRA PDGFRB
18
Show member pathways
12.29 KIT KITLG PDGFRA PDGFRB
19 12.28 IFNA2 IL13 IL5 KIT KITLG MITF
20
Show member pathways
12.05 KIT KITLG MITF
21 12 KIT KITLG PDGFRA PDGFRB
22 11.95 KITLG MITF PDGFRB
23
Show member pathways
11.95 CD2 IL13 IL5 IL9 KITLG
24 11.67 KIT KITLG MPO
25 11.64 CD2 CD44 IL5 KIT KITLG
26 11.57 KIT PDGFRA PDGFRB
27
Show member pathways
11.54 KIT PDGFRA PDGFRB
28 11.46 CD44 IL13 IL5 IL9 KIT
29 11.4 IL13 IL5 IL9
30 11.34 KIT KITLG MITF
31 11.23 CD2 CD44 IFNA2 IL5 KIT KITLG
32 11.19 IL13 IL5 IL9
33 11.07 IL13 IL5 IL9
34 11.02 PDGFRA PDGFRB
35 10.84 KIT KITLG
36 10.77 PDGFRA PDGFRB

GO Terms for Mast Cell Disease

Cellular components related to Mast Cell Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.65 CD2 CD44 KIT PDGFRA PDGFRB
2 extracellular region GO:0005576 9.56 CD2 IFNA2 IL13 IL5 IL9 KITLG
3 external side of plasma membrane GO:0009897 9.46 CD2 IL13 KIT PDGFRA
4 extracellular space GO:0005615 9.23 IFNA2 IL13 IL5 IL9 KIT KITLG

Biological processes related to Mast Cell Disease according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.92 IFNA2 IL13 IL5 IL9 KITLG
2 cytokine-mediated signaling pathway GO:0019221 9.91 IFNA2 IL13 IL5 KIT
3 inflammatory response GO:0006954 9.91 IFNA2 IL13 IL5 IL9 KIT
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.88 CD44 KIT PDGFRA PDGFRB
5 positive regulation of MAPK cascade GO:0043410 9.83 KIT PDGFRA PDGFRB
6 defense response GO:0006952 9.82 IFNA2 MPO TPSAB1
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.82 KIT PDGFRA PDGFRB
8 negative regulation of signal transduction GO:0009968 9.8 KIT PDGFRA PDGFRB
9 peptidyl-tyrosine phosphorylation GO:0018108 9.8 IL5 KIT PDGFRA PDGFRB
10 male gonad development GO:0008584 9.79 KIT KITLG PDGFRB
11 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 CD44 IL5 KITLG
12 positive regulation of protein kinase B signaling GO:0051897 9.78 KIT KITLG PDGFRA PDGFRB
13 cell chemotaxis GO:0060326 9.77 KIT PDGFRA PDGFRB
14 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.74 KIT PDGFRA PDGFRB
15 positive regulation of cell proliferation GO:0008284 9.73 IL5 IL9 KIT KITLG PDGFRA PDGFRB
16 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.72 IFNA2 IL13 KIT
17 MAPK cascade GO:0000165 9.72 IL5 KIT KITLG PDGFRA PDGFRB
18 positive regulation of MAP kinase activity GO:0043406 9.71 KIT KITLG PDGFRB
19 phosphatidylinositol phosphorylation GO:0046854 9.67 KIT KITLG PDGFRA PDGFRB
20 positive regulation of JAK-STAT cascade GO:0046427 9.65 IL5 KIT
21 melanocyte differentiation GO:0030318 9.64 KIT MITF
22 cardiac myofibril assembly GO:0055003 9.63 PDGFRA PDGFRB
23 embryonic hemopoiesis GO:0035162 9.62 KIT KITLG
24 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.59 PDGFRA PDGFRB
25 retina vasculature development in camera-type eye GO:0061298 9.58 PDGFRA PDGFRB
26 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.58 KIT PDGFRA PDGFRB
27 ectopic germ cell programmed cell death GO:0035234 9.56 KIT KITLG
28 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.46 PDGFRA PDGFRB
29 positive regulation of kinase activity GO:0033674 9.46 CD44 KIT PDGFRA PDGFRB
30 metanephric glomerular capillary formation GO:0072277 9.43 PDGFRA PDGFRB
31 negative regulation of apoptotic process GO:0043066 9.17 CD44 KIT KITLG MITF MPO PDGFRA
32 positive regulation of phospholipase C activity GO:0010863 9.13 KIT PDGFRA PDGFRB

Molecular functions related to Mast Cell Disease according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.7 IL5 IL9 KITLG
2 MAP kinase kinase kinase activity GO:0004709 9.65 KIT PDGFRA PDGFRB
3 mitogen-activated protein kinase kinase binding GO:0031434 9.63 KIT PDGFRA PDGFRB
4 protein tyrosine kinase activity GO:0004713 9.62 IL5 KIT PDGFRA PDGFRB
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.61 KIT PDGFRA PDGFRB
6 cytokine activity GO:0005125 9.55 IFNA2 IL13 IL5 IL9 KITLG
7 growth factor binding GO:0019838 9.54 KIT PDGFRA PDGFRB
8 platelet-derived growth factor receptor binding GO:0005161 9.51 PDGFRA PDGFRB
9 platelet-derived growth factor binding GO:0048407 9.49 PDGFRA PDGFRB
10 cytokine receptor binding GO:0005126 9.43 IFNA2 IL13 IL9
11 vascular endothelial growth factor binding GO:0038085 9.4 PDGFRA PDGFRB
12 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.26 KIT KITLG PDGFRA PDGFRB
13 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.02 IL5 KIT KITLG PDGFRA PDGFRB

Sources for Mast Cell Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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