MCID: MST009
MIFTS: 63

Mastocytosis

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Mastocytosis

Summaries for Mastocytosis

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. 

MalaCards based summary : Mastocytosis, also known as mast cell disease, is related to mastocytosis, cutaneous and aggressive systemic mastocytosis, 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 TGF-Beta Pathway and Akt Signaling. The drugs Protein Kinase Inhibitors and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are nausea and vomiting and respiratory insufficiency

Wikipedia : 76 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 247)
# Related Disease Score Top Affiliating Genes
1 mastocytosis, cutaneous 34.2 CD2 FIP1L1 KIT KITLG
2 aggressive systemic mastocytosis 33.6 IFNA2 KIT KITLG
3 indolent systemic mastocytosis 33.1 CD2 HDC KIT KITLG TPSAB1
4 systemic mastocytosis 32.8 CD2 FIP1L1 HDC IFNA2 KIT KITLG
5 sm-ahnmd 32.1 CD2 FIP1L1 KIT PDGFRA TET2
6 mast-cell leukemia 30.7 KIT KITLG RASGRP4
7 leukemia, acute myeloid 30.5 CD2 KIT KITLG SRSF2 TET2
8 chronic myelomonocytic leukemia 30.4 KIT PDGFRB TET2
9 myelofibrosis 30.1 IFNA2 KIT SRSF2 TET2
10 chronic eosinophilic leukemia 29.9 FIP1L1 KIT PDGFRA PDGFRB
11 gastrointestinal stromal tumor 29.9 KIT KITLG PDGFRA PDGFRB
12 myelodysplastic syndrome 29.7 KIT KITLG PDGFRB SRSF2 TET2
13 asthma 29.7 IL13 IL2RA KITLG RASGRP4 TPSAB1
14 pdgfra-associated chronic eosinophilic leukemia 29.7 FIP1L1 PDGFRA
15 myeloproliferative neoplasm 29.6 FIP1L1 KIT PDGFRA PDGFRB TET2
16 hypereosinophilic syndrome, idiopathic 29.6 FIP1L1 KIT PDGFRA PDGFRB
17 hypereosinophilic syndrome 29.5 FIP1L1 IL13 IL2RA KIT PDGFRA PDGFRB
18 mast cell neoplasm 29.4 CD2 HDC KIT KITLG
19 polycythemia vera 29.4 KIT KITLG PDGFRA PDGFRB TET2
20 leukemia, chronic myeloid 29.4 IFNA2 KIT KITLG PDGFRA PDGFRB
21 renal cell carcinoma, nonpapillary 29.3 IFNA2 KIT MITF PDGFRB
22 hematologic cancer 29.2 CD2 IL2RA KIT KITLG PDGFRB TET2
23 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.3
24 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.2
25 cutaneous mastocytosis, conductive hearing loss and microtia 12.1
26 pseudoxanthomatous diffuse cutaneous mastocytosis 12.1
27 isolated bone marrow mastocytosis 12.1
28 bullous diffuse cutaneous mastocytosis 12.1
29 smouldering systemic mastocytosis 12.1
30 lymphoadenopathic mastocytosis with eosinophilia 12.0
31 telangiectasia macularis eruptive perstans 11.9
32 cutaneous mastocytoma 11.4
33 mastocytic enterocolitis 11.2
34 monoclonal mast cell activation syndrome 11.1
35 telangiectasia macularis eruptiva perstans 10.6
36 leukemia 10.5
37 urticaria 10.5
38 myeloid leukemia 10.4
39 osteoporosis 10.4
40 reticular perineurioma 10.2 KIT PDGFRA
41 lymphoma 10.2
42 extracutaneous mastocytoma 10.2 CD2 KIT
43 portal hypertension 10.2
44 gastric leiomyosarcoma 10.2 KIT PDGFRA
45 conventional fibrosarcoma 10.2 KIT PDGFRA
46 endometrial small cell carcinoma 10.2 KIT PDGFRA
47 sarcomatoid renal cell carcinoma 10.2 IFNA2 KIT
48 lung adenoid cystic carcinoma 10.2 KIT PDGFRA
49 pulmonary vein stenosis 10.2 KIT PDGFRA
50 pdgfrb-associated chronic eosinophilic leukemia 10.2

Graphical network of the top 20 diseases related to Mastocytosis:



Diseases related to Mastocytosis

Symptoms & Phenotypes for Mastocytosis

Human phenotypes related to Mastocytosis:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 nausea and vomiting 32 frequent (33%) HP:0002017
2 respiratory insufficiency 32 occasional (7.5%) HP:0002093
3 hypotension 32 occasional (7.5%) HP:0002615
4 splenomegaly 32 occasional (7.5%) HP:0001744
5 hepatomegaly 32 occasional (7.5%) HP:0002240
6 fatigue 32 occasional (7.5%) HP:0012378
7 osteoporosis 32 occasional (7.5%) HP:0000939
8 arrhythmia 32 occasional (7.5%) HP:0011675
9 abnormal blistering of the skin 32 frequent (33%) HP:0008066
10 pruritus 32 hallmark (90%) HP:0000989
11 anorexia 32 occasional (7.5%) HP:0002039
12 telangiectasia of the skin 32 occasional (7.5%) HP:0100585
13 sarcoma 32 occasional (7.5%) HP:0100242
14 asthma 32 occasional (7.5%) HP:0002099
15 gastrointestinal hemorrhage 32 occasional (7.5%) HP:0002239
16 recurrent fractures 32 occasional (7.5%) HP:0002757
17 hypercalcemia 32 occasional (7.5%) HP:0003072
18 diarrhea 32 frequent (33%) HP:0002014
19 macule 32 hallmark (90%) HP:0012733
20 cough 32 occasional (7.5%) HP:0012735
21 urticaria 32 hallmark (90%) HP:0001025
22 acute leukemia 32 occasional (7.5%) HP:0002488
23 chronic leukemia 32 occasional (7.5%) HP:0005558
24 abnormality of skin pigmentation 32 hallmark (90%) HP:0001000
25 mastocytosis 32 hallmark (90%) HP:0100495
26 angioedema 32 occasional (7.5%) HP:0100665
27 impaired temperature sensation 32 frequent (33%) HP:0010829

UMLS symptoms related to Mastocytosis:


pruritus, exanthema

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.55 PDGFRA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.55 SLC18A2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.55 IFNA2 PDGFRA SLC18A2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.55 PDGFRA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.55 IFNA2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.55 IFNA2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.55 PDGFRA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.55 SLC18A2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.55 SLC18A2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.55 IFNA2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.55 SLC18A2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.55 SLC18A2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.55 PDGFRA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.55 PDGFRA SLC18A2

MGI Mouse Phenotypes related to Mastocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 IL13 KIT KITLG MITF PDGFRA PDGFRB
2 hematopoietic system MP:0005397 10.11 HDC IL13 IL2RA KIT KITLG MITF
3 growth/size/body region MP:0005378 10.1 HDC IL13 IL2RA KIT KITLG MITF
4 endocrine/exocrine gland MP:0005379 10.09 IL13 IL2RA KIT KITLG MITF PDGFRA
5 digestive/alimentary MP:0005381 10.06 IL13 IL2RA KIT KITLG PDGFRA PDGFRB
6 immune system MP:0005387 10.06 HDC IL13 IL2RA KIT KITLG MITF
7 integument MP:0010771 9.8 HDC IL13 KIT KITLG MITF PDGFRA
8 no phenotypic analysis MP:0003012 9.63 HDC IL13 KIT MITF PDGFRA TET2
9 pigmentation MP:0001186 9.35 KIT KITLG MITF PDGFRA RASGRP4
10 vision/eye MP:0005391 9.17 IL2RA KIT KITLG MITF PDGFRB RASGRP4

Drugs & Therapeutics for Mastocytosis

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

(show top 50) (show all 135)
# 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
Cladribine Approved, Investigational Phase 2, 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 Immunologic Factors Phase 2, Phase 3,Phase 1,Not Applicable
7 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
8 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
9 Respiratory System Agents Phase 2, Phase 3
10 Anti-Asthmatic Agents Phase 2, Phase 3
11 Anti-Allergic Agents Phase 2, Phase 3
12 Bone Density Conservation Agents Phase 3
13 Pharmaceutical Solutions Phase 3,Phase 2
14
Midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
15
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
16
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
17
Everolimus Approved Phase 2 159351-69-6 6442177
18
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
19
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
20
Fludarabine Approved Phase 2,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
21
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
22
Sunitinib Approved, Investigational Phase 2,Phase 1 557795-19-4, 341031-54-7 5329102
23
Iron Approved Phase 2 7439-89-6 23925
24
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
25
Promethazine Approved, Investigational Phase 2 60-87-7 4927
26
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
27
Lenograstim Approved, Investigational Phase 2 135968-09-1
28
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
29
Histamine Approved, Investigational Phase 2 51-45-6, 75614-87-8 774
30
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
31
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
32
Granisetron Approved, Investigational Phase 2 109889-09-0 3510
33 tannic acid Approved Phase 2
34
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
35
Mycophenolic acid Approved Phase 2,Phase 1,Not Applicable 24280-93-1 446541
36
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
37
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
38
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
39
rituximab Approved Phase 2 174722-31-7 10201696
40
Acetaminophen Approved Phase 2 103-90-2 1983
41
alemtuzumab Approved, Investigational Phase 2 216503-57-0
42
Vidarabine Approved, Investigational Phase 2,Phase 1,Not Applicable 24356-66-9 32326 21704
43
Secretin Approved Phase 1, Phase 2 108153-74-8
44
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
45
Busulfan Approved, Investigational Phase 2 55-98-1 2478
46
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
47
Racepinephrine Approved Phase 2 329-65-7 838
48 Staurosporine Experimental Phase 2 62996-74-1
49
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
50 Specific substance maruyama Phase 2

Interventional clinical trials:

(show top 50) (show all 80)
# Name Status NCT ID Phase Drugs
1 Imatinib in KIT-negative Systemic Mastocytosis Completed NCT01297777 Phase 4 Imatinib Mesylate
2 Cladribine Plus Pegylated Interpheron Alfa-2a in Systemic Mastocytosis Unknown status NCT01602939 Phase 2, Phase 3 Cladribine and pegylated interpheron alpha-2a
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 Masitinib in Severe Indolent or Smoldering Systemic Mastocytosis Completed NCT00814073 Phase 3 Masitinib;Placebo
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 Treatment of Indolent Systemic Mastocytosis With PA101 Completed NCT02478957 Phase 2 PA101;Placebo
10 Masitinib in Patients With Mastocytosis With Handicap and Bearing the D816V Mutation Completed NCT01266369 Phase 2 masitinib
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 Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
14 Stem Cell Transplantation to Treat Systemic Mastocytosis Completed NCT00006413 Phase 2
15 Ontak (Denileukin Diftitox) in Patients With Systemic Mastocytosis (SM) Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
16 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia Completed NCT01807598 Phase 2 brentuximab vedotin
17 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2 thalidomide
18 Phase 2 Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia Completed NCT00233454 Phase 2 Midostaurin
19 Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia Completed NCT00782067 Phase 2 Midostaurin (PKC412)
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 Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Completed NCT01824615 Phase 2 Sunitinib
26 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
27 Deferasirox in Treating Iron Overload Caused By Blood Transfusions in Patients With Hematologic Malignancies Completed NCT01273766 Phase 2 deferasirox
28 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
29 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
30 Safety and Efficacy of Subcutaneous Sarilumab in Improving the Quality of Life in People With Indolent Systemic Mastocytosis Recruiting NCT03770273 Phase 2
31 (PATHFINDER) 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
32 (PIONEER) Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, Versus Placebo in Patients With Indolent and Smoldering Systemic Mastocytosis Recruiting NCT03731260 Phase 2 Avapritinib;Placebo
33 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
34 Effect of Secretin in Functional Dyspepsia and Healthy Subjects Recruiting NCT03617861 Phase 1, Phase 2 Human Secretin;Placebo
35 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
36 A Randomized, Double-Blind, Placebo-Controlled Study of Omalizumab for Idiopathic Anaphylaxis Active, not recruiting NCT00890162 Phase 2 Epinephrine;Omalizumab (Xolair)
37 Midostaurin Associated With Standard Chemotherapy in Patients With Core-binding Factor Leukemia Active, not recruiting NCT03686345 Phase 2 Midostaurin
38 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
39 CD16/IL-15/CD33 Tri-Specific Killer Engagers (TriKEs) for High Risk Heme Malignancies Not yet recruiting NCT03214666 Phase 1, Phase 2 161533 Trike Phase I;161533 Trike Phase II
40 Flotetuzumab in Treating Patients With Recurrent or Refractory CD123 Positive Blood Cancer Not yet recruiting NCT03739606 Phase 2
41 Cromoglicate in Mastocytosis Terminated NCT01701843 Phase 2 Cromoglicate;Placebo
42 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
43 Obatoclax for Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
44 Sunitinib in Treating Patients With Idiopathic Myelofibrosis Terminated NCT00387426 Phase 2 sunitinib malate
45 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1 Akt inhibitor MK2206
46 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1 sunitinib malate
47 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 Avapritinib
48 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618
49 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Active, not recruiting NCT02808793 Phase 1 AK002
50 Clonal Mast Cell Disorders in Exercise-Induced Anaphylaxis Unknown status NCT01326741

Search NIH Clinical Center for Mastocytosis

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


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:

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

Publications for Mastocytosis

Articles related to Mastocytosis:

(show top 50) (show all 1617)
# Title Authors Year
1
Melanoma and mastocytosis: is really only a coincidence? ( 30178486 )
2019
2
Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis. ( 29341334 )
2018
3
Midostaurin in indolent systemic mastocytosis patients: an open-label phase 2 trial. ( 29890238 )
2018
4
Effective management of severe cutaneous mastocytosis in young children with omalizumab (Xolair<sup>Ar</sup>). ( 29451318 )
2018
5
First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease. ( 29748908 )
2018
6
Stone RM, Manley PW, Larson RA, Capdeville R. Midostaurin: its odyssey from discovery to approval for treating acute myeloid leukemia and advanced systemic mastocytosis. <i>Blood Adv</i>. 2017;2(4):444-453. ( 29618463 )
2018
7
Topical pimecrolimus for paediatric cutaneous mastocytosis. ( 29460435 )
2018
8
Blatt K, Cerny-Reiterer S, Schwaab J, et al. Identification of the Ki-1 antigen (CD30) as a novel therapeutic target in systemic mastocytosis. <i>Blood.</i> 2015;126(26):2832-2841. ( 29567760 )
2018
9
Atypical maculopapular cutaneous mastocytosis showing a nevus spilus-like lesion. ( 29931790 )
2018
10
Bubble trouble: Cutaneous mastocytosis mistaken as non-accidental injury. ( 29575311 )
2018
11
Feline maculopapular cutaneous mastocytosis: a retrospective study of 13 cases and proposal for a new classification. ( 29860905 )
2018
12
Characterization of CD34<sup>+</sup>hematopoietic cells in systemic mastocytosis: Potential role in disease dissemination. ( 29331029 )
2018
13
Anaphylactic reaction to an ultrasound contrast agent (Lumason) in a patient with systemic mastocytosis. ( 29517164 )
2018
14
Mastocytosis With Associated Essential Thrombocythemia. ( 29566880 )
2018
15
Systemic mastocytosis with concurrent multiple myeloma. ( 29599147 )
2018
16
Urticaria Pigmentosa (Cutaneous Mastocytosis) ( 29494109 )
2018
17
How we diagnose and treat systemic mastocytosis in adults. ( 29048112 )
2018
18
Transient improvement of skin symptoms in an adult patient with pediatric-onset cutaneous mastocytosis treated with interferon-I+. ( 29633240 )
2018
19
Concurrent immunoglobulin E-mediated neuromuscular blocking agent allergy in systemic mastocytosis. ( 29481892 )
2018
20
Clinical and molecular categorization of progressive, adult-onset cutaneous mastocytosis. ( 29296647 )
2018
21
Midostaurin: its odyssey from discovery to approval for treating acute myeloid leukemia and advanced systemic mastocytosis. ( 29487059 )
2018
22
Preclinical human models and emerging therapeutics for advanced systemic mastocytosis. ( 29976735 )
2018
23
Systemic mastocytosis identified in two women developing fragility fractures during lactation. ( 29619541 )
2018
24
Systemic mastocytosis associates with cardiovascular events despite lower plasma lipid levels. ( 29227868 )
2018
25
Eosinophil phagocytosis in advanced systemic mastocytosis with eosinophilia. ( 29602231 )
2018
26
Spotlight on midostaurin in the treatment of FLT3-mutated acute myeloid leukemia and systemic mastocytosis: design, development, and potential place in therapy. ( 29343975 )
2018
27
Systemic Mastocytosis: The Difficult Patient with a Rare Disease. Case Presentation and Brief Review. ( 29435387 )
2018
28
Indolent Systemic Mastocytosis Manifesting as Protracted Anaphylactic Shock. ( 29743774 )
2018
29
A Case of Mast Cell Leukemia: A Review of the Pathophysiology of Systemic Mastocytosis and Associated Psychiatric Symptoms. ( 29571984 )
2018
30
Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review. ( 29174093 )
2018
31
A comparison of clinical and molecular characteristics of patients with systemic mastocytosis with chronic myelomonocytic leukemia to CMML alone. ( 29712989 )
2018
32
Acquired von Willebrand syndrome during systemic mastocytosis: an analysis of 21 cases. ( 30057374 )
2018
33
BLU-285-the breakthrough in treatment of patients with aggressive systemic mastocytosis and gastrointestinal stromal tumor. ( 30023395 )
2018
34
Aggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia. ( 30069418 )
2018
35
Bone Disease in Mastocytosis. ( 30007462 )
2018
36
Radiotherapy for breast cancer associated with a cutaneous presentation of systemic mastocytosis-a case report and literature review. ( 30487967 )
2018
37
SLAM family member 8 is involved in oncogenic KIT-mediated signalling in human mastocytosis. ( 29498772 )
2018
38
Low frequency of acetyl salicylic acid hypersensitivity in mastocytosis: The results of a double-blind, placebo-controlled challenge study. ( 29569284 )
2018
39
Towards rational diagnostics in mastocytosis: clinical validation of sensitive KIT D816V mutation analysis of unfractionated whole-blood. ( 29741430 )
2018
40
Paediatric mastocytosis: long-term follow-up of 53 patients with whole sequencing of KIT. A prospective study. ( 29787623 )
2018
41
The Possible Role of Gene Variant Coding Nonfunctional Toll-Like Receptor 2 in the Pathogenesis of Mastocytosis. ( 29909409 )
2018
42
Anesthetic management of patients with systemic mastocytosis. ( 29980002 )
2018
43
Safety of ultra-rush protocols for hymenoptera venom immunotherapy in systemic mastocytosis. ( 29984458 )
2018
44
Patient Perspectives: What is mastocytosis? ( 29984862 )
2018
45
Are Enterocolic Mucosal Mast Cell Aggregates Clinically Relevant in Patients Without Suspected or Established Systemic Mastocytosis? ( 30001235 )
2018
46
New Insights into Clonal Mast Cell Disorders Including Mastocytosis. ( 30007455 )
2018
47
Cutaneous Mastocytosis in Adults and Children: New Classification and Prognostic Factors. ( 30007456 )
2018
48
Mast Cell Mediators of Significance in Clinical Practice in Mastocytosis. ( 30007459 )
2018
49
Tyrosine Kinase Inhibition in Mastocytosis: KIT and Beyond KIT. ( 30007468 )
2018
50
Mastocytosis: Moving the Field to Precision and Personalized Medicine. ( 30007470 )
2018

Variations for Mastocytosis

ClinVar genetic disease variations for Mastocytosis:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIT NM_000222.2(KIT): c.2515G> A (p.Glu839Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913509 GRCh37 Chromosome 4, 55602694: 55602694
2 KIT NM_000222.2(KIT): c.2515G> A (p.Glu839Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913509 GRCh38 Chromosome 4, 54736528: 54736528
3 KIT NM_000222.2(KIT): c.1621A> C (p.Met541Leu) single nucleotide variant Benign/Likely benign rs3822214 GRCh37 Chromosome 4, 55593464: 55593464
4 KIT NM_000222.2(KIT): c.1621A> C (p.Met541Leu) single nucleotide variant Benign/Likely benign rs3822214 GRCh38 Chromosome 4, 54727298: 54727298
5 KIT NM_000222.2(KIT): c.252G> T (p.Thr84=) single nucleotide variant Benign/Likely benign rs56411694 GRCh37 Chromosome 4, 55561862: 55561862
6 KIT NM_000222.2(KIT): c.252G> T (p.Thr84=) single nucleotide variant Benign/Likely benign rs56411694 GRCh38 Chromosome 4, 54695696: 54695696
7 KIT NM_000222.2(KIT): c.1119C> T (p.Tyr373=) single nucleotide variant Benign/Likely benign rs72549293 GRCh38 Chromosome 4, 54709427: 54709427
8 KIT NM_000222.2(KIT): c.1119C> T (p.Tyr373=) single nucleotide variant Benign/Likely benign rs72549293 GRCh37 Chromosome 4, 55575593: 55575593
9 KIT NM_000222.2(KIT): c.1794A> T (p.Gly598=) single nucleotide variant Benign/Likely benign rs72549292 GRCh38 Chromosome 4, 54727842: 54727842
10 KIT NM_000222.2(KIT): c.1794A> T (p.Gly598=) single nucleotide variant Benign/Likely benign rs72549292 GRCh37 Chromosome 4, 55594008: 55594008
11 KIT NM_000222.2(KIT): c.200C> G (p.Thr67Ser) single nucleotide variant Uncertain significance rs144933028 GRCh38 Chromosome 4, 54695644: 54695644
12 KIT NM_000222.2(KIT): c.200C> G (p.Thr67Ser) single nucleotide variant Uncertain significance rs144933028 GRCh37 Chromosome 4, 55561810: 55561810
13 KIT NM_000222.2(KIT): c.1274T> A (p.Met425Lys) single nucleotide variant Uncertain significance rs878853760 GRCh38 Chromosome 4, 54723626: 54723626
14 KIT NM_000222.2(KIT): c.1274T> A (p.Met425Lys) single nucleotide variant Uncertain significance rs878853760 GRCh37 Chromosome 4, 55589792: 55589792
15 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh38 Chromosome 4, 54736794: 54736794
16 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh37 Chromosome 4, 55602960: 55602960
17 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh38 Chromosome 4, 54737289: 54737289
18 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh37 Chromosome 4, 55603455: 55603455
19 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs140909964 GRCh38 Chromosome 4, 54658001: 54658001
20 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs140909964 GRCh37 Chromosome 4, 55524168: 55524168
21 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh38 Chromosome 4, 54727315: 54727315
22 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh37 Chromosome 4, 55593481: 55593481
23 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh38 Chromosome 4, 54733102: 54733102
24 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh37 Chromosome 4, 55599268: 55599268
25 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Benign/Likely benign rs3733542 GRCh38 Chromosome 4, 54736599: 54736599
26 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Benign/Likely benign rs3733542 GRCh37 Chromosome 4, 55602765: 55602765
27 KIT NM_000222.2(KIT): c.2847C> T (p.Pro949=) single nucleotide variant Benign/Likely benign rs56288823 GRCh37 Chromosome 4, 55604639: 55604639
28 KIT NM_000222.2(KIT): c.2847C> T (p.Pro949=) single nucleotide variant Benign/Likely benign rs56288823 GRCh38 Chromosome 4, 54738473: 54738473
29 KIT NM_000222.2(KIT): c.2923G> C (p.Asp975His) single nucleotide variant Uncertain significance rs373152714 GRCh37 Chromosome 4, 55604715: 55604715
30 KIT NM_000222.2(KIT): c.2923G> C (p.Asp975His) single nucleotide variant Uncertain significance rs373152714 GRCh38 Chromosome 4, 54738549: 54738549
31 KIT NM_000222.2(KIT): c.*368C> T single nucleotide variant Uncertain significance rs886059465 GRCh37 Chromosome 4, 55605091: 55605091
32 KIT NM_000222.2(KIT): c.*368C> T single nucleotide variant Uncertain significance rs886059465 GRCh38 Chromosome 4, 54738925: 54738925
33 KIT NM_000222.2(KIT): c.*597C> T single nucleotide variant Uncertain significance rs746982052 GRCh37 Chromosome 4, 55605320: 55605320
34 KIT NM_000222.2(KIT): c.*597C> T single nucleotide variant Uncertain significance rs746982052 GRCh38 Chromosome 4, 54739154: 54739154
35 KIT NM_000222.2(KIT): c.*1059C> T single nucleotide variant Uncertain significance rs886059467 GRCh37 Chromosome 4, 55605782: 55605782
36 KIT NM_000222.2(KIT): c.*1059C> T single nucleotide variant Uncertain significance rs886059467 GRCh38 Chromosome 4, 54739616: 54739616
37 KIT NM_000222.2(KIT): c.*1101A> G single nucleotide variant Uncertain significance rs886059468 GRCh38 Chromosome 4, 54739658: 54739658
38 KIT NM_000222.2(KIT): c.*1101A> G single nucleotide variant Uncertain significance rs886059468 GRCh37 Chromosome 4, 55605824: 55605824
39 KIT NM_000222.2(KIT): c.*1704G> T single nucleotide variant Likely benign rs8022 GRCh38 Chromosome 4, 54740261: 54740261
40 KIT NM_000222.2(KIT): c.*1704G> T single nucleotide variant Likely benign rs8022 GRCh37 Chromosome 4, 55606427: 55606427
41 KIT NM_000222.2(KIT): c.*149C> T single nucleotide variant Likely benign rs2213181 GRCh37 Chromosome 4, 55604872: 55604872
42 KIT NM_000222.2(KIT): c.*149C> T single nucleotide variant Likely benign rs2213181 GRCh38 Chromosome 4, 54738706: 54738706
43 KIT NM_000222.2(KIT): c.*252G> T single nucleotide variant Uncertain significance rs376694515 GRCh37 Chromosome 4, 55604975: 55604975
44 KIT NM_000222.2(KIT): c.*252G> T single nucleotide variant Uncertain significance rs376694515 GRCh38 Chromosome 4, 54738809: 54738809
45 KIT NM_000222.2(KIT): c.*352A> G single nucleotide variant Uncertain significance rs149336515 GRCh37 Chromosome 4, 55605075: 55605075
46 KIT NM_000222.2(KIT): c.*352A> G single nucleotide variant Uncertain significance rs149336515 GRCh38 Chromosome 4, 54738909: 54738909
47 KIT NM_000222.2(KIT): c.*1791G> A single nucleotide variant Uncertain significance rs77842054 GRCh38 Chromosome 4, 54740348: 54740348
48 KIT NM_000222.2(KIT): c.*1791G> A single nucleotide variant Uncertain significance rs77842054 GRCh37 Chromosome 4, 55606514: 55606514
49 KIT NM_000222.2(KIT): c.301C> T (p.His101Tyr) single nucleotide variant Uncertain significance rs781130745 GRCh37 Chromosome 4, 55561911: 55561911
50 KIT NM_000222.2(KIT): c.301C> T (p.His101Tyr) single nucleotide variant Uncertain significance rs781130745 GRCh38 Chromosome 4, 54695745: 54695745

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 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 CD2 IFNA2 IL13 IL2RA KIT KITLG
2
Show member pathways
13.25 CD2 IL13 IL2RA KIT KITLG PDGFRA
3
Show member pathways
13.1 CD2 IL13 IL2RA KIT KITLG PDGFRA
4
Show member pathways
12.97 IFNA2 IL13 IL2RA KIT KITLG PDGFRA
5
Show member pathways
12.92 IL2RA KIT KITLG PDGFRA PDGFRB
6
Show member pathways
12.91 IL2RA KIT KITLG PDGFRA PDGFRB
7
Show member pathways
12.79 IFNA2 IL2RA KIT KITLG PDGFRA PDGFRB
8 12.6 KIT KITLG PDGFRA PDGFRB RASGRP4
9
Show member pathways
12.58 KIT KITLG PDGFRA PDGFRB
10
Show member pathways
12.56 KIT KITLG PDGFRA PDGFRB RASGRP4
11 12.42 CD2 IL2RA KIT KITLG
12
Show member pathways
12.31 IL13 IL2RA PDGFRA PDGFRB
13
Show member pathways
12.26 KIT KITLG PDGFRA PDGFRB
14
Show member pathways
12.17 IFNA2 IL13 IL2RA PDGFRA PDGFRB
15 12 IFNA2 IL13 IL2RA KIT KITLG MITF
16
Show member pathways
11.93 CD2 IL13 IL2RA KITLG
17 11.92 KITLG MITF PDGFRB
18 11.9 KIT KITLG PDGFRA PDGFRB
19
Show member pathways
11.71 IFNA2 IL13 IL2RA KIT KITLG PDGFRA
20 11.66 IL13 IL2RA KIT
21
Show member pathways
11.64 KIT PDGFRA PDGFRB
22 11.62 CD2 IFNA2 IL2RA KIT KITLG
23 11.61 CD2 IL2RA KIT KITLG
24 11.54 KIT PDGFRA PDGFRB
25 11.25 KIT KITLG MITF
26 11 PDGFRA PDGFRB
27 10.82 KIT KITLG
28 10.75 CD2 IL13 KIT KITLG PDGFRA PDGFRB
29 10.74 PDGFRA PDGFRB

GO Terms for Mastocytosis

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.35 CD2 IL2RA KIT PDGFRA PDGFRB
2 external side of plasma membrane GO:0009897 9.02 CD2 IL13 IL2RA KIT PDGFRA

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.93 KIT KITLG MITF PDGFRA PDGFRB
2 cytokine-mediated signaling pathway GO:0019221 9.86 IFNA2 IL13 IL2RA KIT
3 positive regulation of MAPK cascade GO:0043410 9.79 KIT PDGFRA PDGFRB
4 negative regulation of signal transduction GO:0009968 9.76 KIT PDGFRA PDGFRB
5 male gonad development GO:0008584 9.74 KIT KITLG PDGFRB
6 positive regulation of protein kinase B signaling GO:0051897 9.73 KIT KITLG PDGFRA PDGFRB
7 cell chemotaxis GO:0060326 9.72 KIT PDGFRA PDGFRB
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.7 KIT PDGFRA PDGFRB
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 IFNA2 IL13 KIT
10 positive regulation of MAP kinase activity GO:0043406 9.63 KIT KITLG PDGFRB
11 myeloid cell differentiation GO:0030099 9.62 RASGRP4 TET2
12 positive regulation of Ras protein signal transduction GO:0046579 9.61 KITLG RASGRP4
13 cardiac myofibril assembly GO:0055003 9.6 PDGFRA PDGFRB
14 melanocyte differentiation GO:0030318 9.59 KIT MITF
15 embryonic hemopoiesis GO:0035162 9.58 KIT KITLG
16 phosphatidylinositol phosphorylation GO:0046854 9.56 KIT KITLG PDGFRA PDGFRB
17 retina vasculature development in camera-type eye GO:0061298 9.51 PDGFRA PDGFRB
18 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.5 KIT PDGFRA PDGFRB
19 ectopic germ cell programmed cell death GO:0035234 9.48 KIT KITLG
20 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.46 KIT PDGFRA PDGFRB RASGRP4
21 metanephric glomerular capillary formation GO:0072277 9.4 PDGFRA PDGFRB
22 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.37 PDGFRA PDGFRB
23 positive regulation of phospholipase C activity GO:0010863 9.13 KIT PDGFRA PDGFRB
24 MAPK cascade GO:0000165 9.1 IL2RA KIT KITLG PDGFRA PDGFRB RASGRP4

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 KIT PDGFRA PDGFRB
2 platelet-derived growth factor receptor binding GO:0005161 9.37 PDGFRA PDGFRB
3 platelet-derived growth factor binding GO:0048407 9.32 PDGFRA PDGFRB
4 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.26 KIT KITLG PDGFRA PDGFRB
5 vascular endothelial growth factor binding GO:0038085 9.16 PDGFRA PDGFRB
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.1 IL2RA KIT KITLG PDGFRA PDGFRB RASGRP4
7 protein binding GO:0005515 10.25 CD2 FIP1L1 HDC IFNA2 IL13 IL2RA

Sources for Mastocytosis

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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