MCID: MST009
MIFTS: 61

Mastocytosis

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Mastocytosis

Summaries for Mastocytosis

NIH Rare Diseases : 54 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 pruritus and macule

Wikipedia : 77 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 282)
# Related Disease Score Top Affiliating Genes
1 mastocytosis, cutaneous 34.3 CD2 FIP1L1 KIT KITLG
2 aggressive systemic mastocytosis 33.8 IFNA2 KIT KITLG
3 indolent systemic mastocytosis 33.1 CD2 HDC KIT KITLG TPSAB1
4 systemic mastocytosis 32.0 ASXL1 CD2 FIP1L1 HDC IFNA2 KIT
5 sm-ahnmd 31.9 ASXL1 CD2 FIP1L1 KIT PDGFRA TET2
6 mast-cell leukemia 30.8 KIT KITLG RASGRP4
7 extracutaneous mastocytoma 30.5 CD2 KIT
8 chronic myelomonocytic leukemia 30.3 ASXL1 KIT PDGFRB TET2
9 leukemia, acute myeloid 30.3 ASXL1 CD2 KIT KITLG SRSF2 TET2
10 myelofibrosis 30.0 ASXL1 IFNA2 KIT SRSF2 TET2
11 mast cell neoplasm 30.0 CD2 HDC KIT KITLG
12 essential thrombocythemia 30.0 ASXL1 IFNA2 TET2
13 hypereosinophilic syndrome 29.9 FIP1L1 IL13 KIT PDGFRA PDGFRB
14 gastrointestinal stromal tumor 29.9 KIT KITLG PDGFRA PDGFRB
15 chronic eosinophilic leukemia 29.9 FIP1L1 KIT PDGFRA PDGFRB
16 pdgfra-associated chronic eosinophilic leukemia 29.8 FIP1L1 PDGFRA
17 myelodysplastic syndrome 29.7 ASXL1 KIT KITLG PDGFRB SRSF2 TET2
18 hypereosinophilic syndrome, idiopathic 29.6 FIP1L1 KIT PDGFRA PDGFRB
19 myeloproliferative neoplasm 29.5 FIP1L1 KIT PDGFRA PDGFRB TET2
20 bone marrow cancer 29.5 IFNA2 KIT KITLG PDGFRA PDGFRB TET2
21 polycythemia vera 29.4 KIT KITLG PDGFRA PDGFRB TET2
22 hematologic cancer 29.3 CD2 KIT KITLG PDGFRB TET2
23 leukemia, chronic myeloid 29.3 IFNA2 KIT KITLG PDGFRA PDGFRB
24 renal cell carcinoma, nonpapillary 29.2 IFNA2 KIT MITF PDGFRB
25 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.3
26 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.2
27 cutaneous mastocytosis, conductive hearing loss and microtia 12.2
28 pseudoxanthomatous diffuse cutaneous mastocytosis 12.2
29 isolated bone marrow mastocytosis 12.1
30 bullous diffuse cutaneous mastocytosis 12.1
31 smouldering systemic mastocytosis 12.1
32 lymphoadenopathic mastocytosis with eosinophilia 12.0
33 telangiectasia macularis eruptive perstans 11.9
34 cutaneous mastocytoma 11.4
35 mastocytic enterocolitis 11.2
36 monoclonal mast cell activation syndrome 11.1
37 telangiectasia macularis eruptiva perstans 10.7
38 leukemia 10.6
39 urticaria 10.5
40 osteoporosis 10.5
41 myeloid leukemia 10.5
42 reticular perineurioma 10.3 KIT PDGFRA
43 lymphoma 10.3
44 gastric leiomyosarcoma 10.3 KIT PDGFRA
45 sarcomatoid renal cell carcinoma 10.3 IFNA2 KIT
46 conventional fibrosarcoma 10.3 KIT PDGFRA
47 endometrial small cell carcinoma 10.3 KIT PDGFRA
48 lung adenoid cystic carcinoma 10.3 KIT PDGFRA
49 pulmonary vein stenosis 10.3 KIT PDGFRA
50 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.2 PDGFRA PDGFRB

Graphical network of the top 20 diseases related to Mastocytosis:



Diseases related to Mastocytosis

Symptoms & Phenotypes for Mastocytosis

Human phenotypes related to Mastocytosis:

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

UMLS symptoms related to Mastocytosis:


pruritus, exanthema

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

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.53 PDGFRA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.53 SLC18A2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.53 IFNA2 PDGFRA SLC18A2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.53 PDGFRA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.53 IFNA2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.53 IFNA2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.53 PDGFRA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.53 SLC18A2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.53 SLC18A2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.53 IFNA2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.53 SLC18A2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.53 PDGFRA
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.53 PDGFRA SLC18A2

MGI Mouse Phenotypes related to Mastocytosis:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 ASXL1 IL13 KIT KITLG MITF PDGFRA
2 hematopoietic system MP:0005397 10.14 ASXL1 HDC IL13 KIT KITLG MITF
3 growth/size/body region MP:0005378 10.13 ASXL1 HDC IL13 KIT KITLG MITF
4 endocrine/exocrine gland MP:0005379 10.11 ASXL1 IL13 KIT KITLG MITF PDGFRA
5 immune system MP:0005387 10.11 ASXL1 HDC IL13 KIT KITLG MITF
6 digestive/alimentary MP:0005381 10.08 ASXL1 IL13 KIT KITLG PDGFRA PDGFRB
7 craniofacial MP:0005382 9.97 ASXL1 KIT KITLG MITF PDGFRA PDGFRB
8 integument MP:0010771 9.87 HDC IL13 KIT KITLG MITF PDGFRA
9 no phenotypic analysis MP:0003012 9.73 HDC IL13 KIT MITF PDGFRA TET2
10 skeleton MP:0005390 9.56 ASXL1 IL13 KIT KITLG MITF PDGFRA
11 pigmentation MP:0001186 9.55 KIT KITLG MITF PDGFRA RASGRP4
12 vision/eye MP:0005391 9.17 ASXL1 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 146)
# 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,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 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
8 2-chloro-3'-deoxyadenosine Phase 2, Phase 3,Phase 3
9 Anti-Allergic Agents Phase 2, Phase 3
10 Anti-Asthmatic Agents Phase 2, Phase 3
11 Respiratory System Agents Phase 2, Phase 3
12 Histamine Antagonists Phase 2, Phase 3,Phase 3
13 Interferon-alpha Phase 3
14 Histamine H1 Antagonists Phase 3,Phase 2
15 Cromolyn Sodium Phase 3,Phase 2
16 Leukotriene Antagonists Phase 3
17 Antidepressive Agents Phase 3
18 Proton Pump Inhibitors Phase 3
19 interferons Phase 3
20 Bone Density Conservation Agents Phase 3
21 Pharmaceutical Solutions Phase 3,Phase 2
22
midostaurin Approved, Investigational Phase 2 120685-11-2 9829523 104937
23
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
24
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 5284616 6436030
25
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
26
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
27
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
28
Fludarabine Approved Phase 2,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
29
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
30
Sunitinib Approved, Investigational Phase 2,Phase 1 557795-19-4, 341031-54-7 5329102
31
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
32
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 27284 23925
33
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
34
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
35
Granisetron Approved, Investigational Phase 2 109889-09-0 3510
36
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
37
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
38
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
39
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
40
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
41
Histamine Approved, Investigational Phase 2 51-45-6 774
42
Acetaminophen Approved Phase 2 103-90-2 1983
43
Mycophenolic acid Approved Phase 2,Phase 1,Not Applicable 24280-93-1 446541
44
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
45
tannic acid Approved Phase 2 1401-55-4
46
rituximab Approved Phase 2 174722-31-7 10201696
47
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
48
Promethazine Approved, Investigational Phase 2 60-87-7 4927
49
Lenograstim Approved, Investigational Phase 2 135968-09-1
50
Vidarabine Approved, Investigational Phase 2,Phase 1,Not Applicable 24356-66-9 21704 32326

Interventional clinical trials:

(show top 50) (show all 79)
# 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 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia Completed NCT01807598 Phase 2 Brentuximab vedotin
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 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 Primary Eosinophilic 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 Midostaurin Associated With Standard Chemotherapy in Patients With Core-binding Factor Leukemia Recruiting NCT03686345 Phase 2 Midostaurin
36 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
37 A Randomized, Double-Blind, Placebo-Controlled Study of Omalizumab for Idiopathic Anaphylaxis Active, not recruiting NCT00890162 Phase 2 Epinephrine;Omalizumab (Xolair)
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 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Completed NCT02808793 Phase 1 AK002
46 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1 Akt inhibitor MK2206
47 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1 sunitinib malate
48 (EXPLORER) Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 Avapritinib
49 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618
50 Clonal Mast Cell Disorders in Exercise-Induced Anaphylaxis Unknown status NCT01326741

Search NIH Clinical Center for Mastocytosis

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: mastocytosis

Genetic Tests for Mastocytosis

Genetic tests related to Mastocytosis:

# Genetic test Affiliating Genes
1 Mastocytosis 30 KIT

Anatomical Context for Mastocytosis

MalaCards organs/tissues related to Mastocytosis:

42
Bone, Bone Marrow, Skin, Myeloid, Liver, Spleen, Small Intestine

Publications for Mastocytosis

Articles related to Mastocytosis:

(show top 50) (show all 1986)
# Title Authors Year
1
A familial germline mutation in KIT associated with achalasia, mastocytosis and gastrointestinal stromal tumors shows response to kinase inhibitors. ( 31109590 )
2019
2
Aggressive systemic mastocytosis: midostaurin is safe, feasible and associated with durable response post-haploidentical allogeneic stem cell transplant. ( 31111479 )
2019
3
Indolent systemic mastocytosis mimicking Crohn's disease. ( 30872912 )
2019
4
Mastocytosis With Associated Essential Thrombocythemia. ( 29566880 )
2019
5
Advances in diagnosis of mastocytosis and hypereosinophilic syndrome☆. ( 30573041 )
2019
6
Acute myeloid leukemia with t(8;21)(q22;q22.1)/RUNX1-RUNX1T1 and KIT Exon 8 mutation is associated with characteristic mastocytosis and dismal outcomes. ( 31004601 )
2019
7
Midostaurin for the management of FLT3-mutated acute myeloid leukemia and advanced systemic mastocytosis. ( 30753289 )
2019
8
KIT D816 mutated/CBF-negative acute myeloid leukemia: a poor-risk subtype associated with systemic mastocytosis. ( 30635631 )
2019
9
Higher prevalence of vertebral fractures in systemic mastocytosis, but not in cutaneous mastocytosis and idiopathic mast cell activation syndrome. ( 30847528 )
2019
10
Mast Cell Activation Syndrome and Mastocytosis: Initial Treatment Options and Long-Term Management. ( 30961835 )
2019
11
Management of a neonate with diffuse cutaneous mastocytosis: Case report and literature review. ( 30828864 )
2019
12
Imported Fire Ant Hypersensitivity and Mastocytosis: A Case Series of Successful Venom Immunotherapy. ( 30831255 )
2019
13
World Health Organization class-independent risk categorization in mastocytosis. ( 30833549 )
2019
14
A case report of systemic mastocytosis associated with multiple hematologic non-mast cell lineage diseases. ( 30849188 )
2019
15
Anaphylactic risk due to systemic mastocytosis: Perioperative management in cardiac surgery. ( 30850182 )
2019
16
Reply to: "The "cholesterol paradox" in patients with mastocytosis". ( 30871724 )
2019
17
Inhibitory effects of midostaurin and avapritinib on myeloid progenitors derived from patients with KIT D816V positive advanced systemic mastocytosis. ( 30911112 )
2019
18
Usefulness of Omalizumab and Sting Challenge Test in Hymenoptera Venom Allergy and Mastocytosis. ( 30957757 )
2019
19
Insect Sting Anaphylaxis-Or Mastocytosis-Or Something Else? ( 30961837 )
2019
20
Blisters, Vaccines, and Mast Cells: A Difficult Case of Diffuse Cutaneous Mastocytosis. ( 30961844 )
2019
21
Telangiectasia macularis eruptiva perstans: a neglected type of mastocytosis with exclusively cutaneous involvement? A case series. ( 30973331 )
2019
22
Single-cell analysis reveals the KIT D816V mutation in haematopoietic stem and progenitor cells in systemic mastocytosis. ( 30975542 )
2019
23
Relevant updates in systemic mastocytosis. ( 30978435 )
2019
24
CD30 expression in cutaneous lesions of systemic mastocytosis: clinical, biological and histopathological analysis of 27 patients. ( 30989735 )
2019
25
MDS with 5q deletion and rare cKIT positive mastocytosis: a diagnostic and therapeutic challenge. ( 31005862 )
2019
26
Frequency of isolated cutaneous involvement in adult mastocytosis: a cohort study. ( 31009132 )
2019
27
Molecular quantification of tissue disease burden is a new biomarker and independent predictor of survival in mastocytosis. ( 31018976 )
2019
28
Gastrointestinal Mastocytosis: A Potential Diagnostic Pitfall to Be Aware. ( 31046499 )
2019
29
Midostaurin for acute myeloid leukaemia, mastocytosis, and mast cell leukaemia. ( 31048943 )
2019
30
Maculopapular Cutaneous Mastocytosis in a Diverse Population. ( 31056447 )
2019
31
Myelodysplasia as assessed by multiparameter flow cytometry refines prognostic stratification provided by genotypic risk in systemic mastocytosis. ( 31056768 )
2019
32
Maculopapular Cutaneous Mastocytosis in a Six-month-old Boy Who Presented with Respiratory Distress. ( 31058011 )
2019
33
Neuroinflammatory disorders and mastocytosis: a possible association? ( 31077881 )
2019
34
PD-L1 Expression in Mastocytosis. ( 31086024 )
2019
35
Feline maculopapular cutaneous mastocytosis: a retrospective study of 13 cases and proposal for a new classification. ( 29860905 )
2019
36
The Mastocytosis Society Survey on Mast Cell Disorders: Part 2-Patient Clinical Experiences and Beyond. ( 30098409 )
2019
37
Telangiectatic mastocytosis versus telangiectasia macularis eruptiva perstans. ( 30144139 )
2019
38
Twelve-year follow-up of omalizumab therapy for anaphylaxis in 2 patients with systemic mastocytosis. ( 30149096 )
2019
39
Melanoma and mastocytosis: is really only a coincidence? ( 30178486 )
2019
40
Everyday life and mastocytosis from a patient perspective-a qualitative study. ( 30230078 )
2019
41
Cutaneous Mastocytosis With Predominant Infiltration of Promastocytes. ( 30252695 )
2019
42
Mitral Valve Replacement in a Patient With Systemic Mastocytosis. ( 30279067 )
2019
43
Smoldering mastocytosis: Survival comparisons with indolent and aggressive mastocytosis. ( 30281840 )
2019
44
The Data Registry of the European Competence Network on Mastocytosis (ECNM): Set Up, Projects, and Perspectives. ( 30416055 )
2019
45
Oral suplatast tosilate for the treatment of urticaria pigmentosa, skin lesion in mastocytosis. ( 30456758 )
2019
46
Lokivetmab therapy for pruritus in a dog with cutaneous mastocytosis. ( 30479052 )
2019
47
Toward a Unified Database Registry in Mastocytosis. ( 30598186 )
2019
48
Mastocytosis and the Fig Wasp (Blastophaga psenes). ( 30625461 )
2019
49
Mast cells in mastocytosis and allergy - Important player in metabolic and immunological homeostasis. ( 30641273 )
2019
50
Early diagnosis of cutaneous mastocytosis in an infant: the importance of a clinical sign. ( 30661050 )
2019

Variations for Mastocytosis

ClinVar genetic disease variations for Mastocytosis:

6 (show top 50) (show all 88)
# 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.1553C> T (p.Pro518Leu) single nucleotide variant Uncertain significance rs569408054 GRCh38 Chromosome 4, 54727230: 54727230
16 KIT NM_000222.2(KIT): c.1553C> T (p.Pro518Leu) single nucleotide variant Uncertain significance rs569408054 GRCh37 Chromosome 4, 55593396: 55593396
17 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh38 Chromosome 4, 54736794: 54736794
18 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh37 Chromosome 4, 55602960: 55602960
19 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh38 Chromosome 4, 54737289: 54737289
20 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh37 Chromosome 4, 55603455: 55603455
21 KIT NM_000222.2(KIT): c.2881G> A (p.Gly961Ser) single nucleotide variant Uncertain significance rs773828910 GRCh38 Chromosome 4, 54738507: 54738507
22 KIT NM_000222.2(KIT): c.2881G> A (p.Gly961Ser) single nucleotide variant Uncertain significance rs773828910 GRCh37 Chromosome 4, 55604673: 55604673
23 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs140909964 GRCh38 Chromosome 4, 54658001: 54658001
24 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs140909964 GRCh37 Chromosome 4, 55524168: 55524168
25 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh38 Chromosome 4, 54727315: 54727315
26 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh37 Chromosome 4, 55593481: 55593481
27 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh38 Chromosome 4, 54733102: 54733102
28 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh37 Chromosome 4, 55599268: 55599268
29 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Benign/Likely benign rs3733542 GRCh38 Chromosome 4, 54736599: 54736599
30 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Benign/Likely benign rs3733542 GRCh37 Chromosome 4, 55602765: 55602765
31 KIT NM_000222.2(KIT): c.2847C> T (p.Pro949=) single nucleotide variant Benign/Likely benign rs56288823 GRCh38 Chromosome 4, 54738473: 54738473
32 KIT NM_000222.2(KIT): c.2847C> T (p.Pro949=) single nucleotide variant Benign/Likely benign rs56288823 GRCh37 Chromosome 4, 55604639: 55604639
33 KIT NM_000222.2(KIT): c.2923G> C (p.Asp975His) single nucleotide variant Uncertain significance rs373152714 GRCh38 Chromosome 4, 54738549: 54738549
34 KIT NM_000222.2(KIT): c.2923G> C (p.Asp975His) single nucleotide variant Uncertain significance rs373152714 GRCh37 Chromosome 4, 55604715: 55604715
35 KIT NM_000222.2(KIT): c.*368C> T single nucleotide variant Uncertain significance rs886059465 GRCh38 Chromosome 4, 54738925: 54738925
36 KIT NM_000222.2(KIT): c.*368C> T single nucleotide variant Uncertain significance rs886059465 GRCh37 Chromosome 4, 55605091: 55605091
37 KIT NM_000222.2(KIT): c.*597C> T single nucleotide variant Uncertain significance rs746982052 GRCh38 Chromosome 4, 54739154: 54739154
38 KIT NM_000222.2(KIT): c.*597C> T single nucleotide variant Uncertain significance rs746982052 GRCh37 Chromosome 4, 55605320: 55605320
39 KIT NM_000222.2(KIT): c.*1059C> T single nucleotide variant Uncertain significance rs886059467 GRCh38 Chromosome 4, 54739616: 54739616
40 KIT NM_000222.2(KIT): c.*1059C> T single nucleotide variant Uncertain significance rs886059467 GRCh37 Chromosome 4, 55605782: 55605782
41 KIT NM_000222.2(KIT): c.*1101A> G single nucleotide variant Uncertain significance rs886059468 GRCh38 Chromosome 4, 54739658: 54739658
42 KIT NM_000222.2(KIT): c.*1101A> G single nucleotide variant Uncertain significance rs886059468 GRCh37 Chromosome 4, 55605824: 55605824
43 KIT NM_000222.2(KIT): c.*1704G> T single nucleotide variant Likely benign rs8022 GRCh38 Chromosome 4, 54740261: 54740261
44 KIT NM_000222.2(KIT): c.*1704G> T single nucleotide variant Likely benign rs8022 GRCh37 Chromosome 4, 55606427: 55606427
45 KIT NM_000222.2(KIT): c.*149C> T single nucleotide variant Likely benign rs2213181 GRCh38 Chromosome 4, 54738706: 54738706
46 KIT NM_000222.2(KIT): c.*149C> T single nucleotide variant Likely benign rs2213181 GRCh37 Chromosome 4, 55604872: 55604872
47 KIT NM_000222.2(KIT): c.*252G> T single nucleotide variant Uncertain significance rs376694515 GRCh38 Chromosome 4, 54738809: 54738809
48 KIT NM_000222.2(KIT): c.*252G> T single nucleotide variant Uncertain significance rs376694515 GRCh37 Chromosome 4, 55604975: 55604975
49 KIT NM_000222.2(KIT): c.*352A> G single nucleotide variant Uncertain significance rs149336515 GRCh38 Chromosome 4, 54738909: 54738909
50 KIT NM_000222.2(KIT): c.*352A> G single nucleotide variant Uncertain significance rs149336515 GRCh37 Chromosome 4, 55605075: 55605075

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 CD2 IFNA2 IL13 KIT KITLG PDGFRA
2
Show member pathways
13.23 CD2 IL13 KIT KITLG PDGFRA PDGFRB
3
Show member pathways
13.09 CD2 IL13 KIT KITLG PDGFRA PDGFRB
4
Show member pathways
13.09 IFNA2 IL13 KIT KITLG PDGFRA PDGFRB
5
Show member pathways
12.8 IFNA2 KIT KITLG PDGFRA PDGFRB
6
Show member pathways
12.54 KIT KITLG PDGFRA PDGFRB
7 12.52 KIT KITLG PDGFRA PDGFRB RASGRP4
8
Show member pathways
12.44 KIT KITLG PDGFRA PDGFRB RASGRP4
9
Show member pathways
12.19 KIT KITLG PDGFRA PDGFRB
10
Show member pathways
12.18 IFNA2 IL13 PDGFRA PDGFRB
11
Show member pathways
11.99 KIT KITLG MITF
12 11.95 IFNA2 IL13 KIT KITLG MITF PDGFRA
13 11.88 KITLG MITF PDGFRB
14 11.79 KIT KITLG PDGFRA PDGFRB
15 11.69 CD2 KIT KITLG
16
Show member pathways
11.64 IFNA2 IL13 KIT KITLG PDGFRA PDGFRB
17 11.62 CD2 IFNA2 KIT KITLG
18 11.47 KIT PDGFRA PDGFRB
19 11.16 KIT KITLG MITF
20 10.95 PDGFRA PDGFRB
21 10.76 KIT KITLG
22 10.68 PDGFRA PDGFRB
23 10.54 CD2 IL13 KIT KITLG 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 external side of plasma membrane GO:0009897 8.92 CD2 IL13 KIT PDGFRA

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.77 KIT PDGFRA PDGFRB
2 male gonad development GO:0008584 9.72 KIT KITLG PDGFRB
3 cell chemotaxis GO:0060326 9.71 KIT PDGFRA PDGFRB
4 positive regulation of protein kinase B signaling GO:0051897 9.71 KIT KITLG PDGFRA PDGFRB
5 negative regulation of apoptotic process GO:0043066 9.7 KITLG MITF PDGFRB
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.69 KIT PDGFRA PDGFRB
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 IFNA2 IL13 KIT
8 positive regulation of MAP kinase activity GO:0043406 9.61 KIT KITLG PDGFRB
9 myeloid cell differentiation GO:0030099 9.6 RASGRP4 TET2
10 positive regulation of Ras protein signal transduction GO:0046579 9.58 KITLG RASGRP4
11 cardiac myofibril assembly GO:0055003 9.58 PDGFRA PDGFRB
12 melanocyte differentiation GO:0030318 9.57 KIT MITF
13 embryonic hemopoiesis GO:0035162 9.56 KIT KITLG
14 retina vasculature development in camera-type eye GO:0061298 9.49 PDGFRA PDGFRB
15 ectopic germ cell programmed cell death GO:0035234 9.46 KIT KITLG
16 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.46 KIT PDGFRA PDGFRB RASGRP4
17 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.43 KIT PDGFRA PDGFRB
18 metanephric glomerular capillary formation GO:0072277 9.37 PDGFRA PDGFRB
19 MAPK cascade GO:0000165 9.35 KIT KITLG PDGFRA PDGFRB RASGRP4
20 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.32 PDGFRA PDGFRB
21 positive regulation of phospholipase C activity GO:0010863 8.8 KIT PDGFRA PDGFRB

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 9.33 KIT PDGFRA PDGFRB
2 platelet-derived growth factor receptor binding GO:0005161 9.32 PDGFRA PDGFRB
3 platelet-derived growth factor binding GO:0048407 9.26 PDGFRA PDGFRB
4 vascular endothelial growth factor binding GO:0038085 8.96 PDGFRA PDGFRB
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.32 RASGRP4
6 protein binding GO:0005515 10.21 ASXL1 CD2 FIP1L1 HDC IFNA2 IL13

Sources for Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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