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ASM
MCID: AGG002
MIFTS: 49

Aggressive Systemic Mastocytosis (ASM)

Categories: Blood diseases, Immune diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Aggressive Systemic Mastocytosis

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MalaCards integrated aliases for Aggressive Systemic Mastocytosis:

Name: Aggressive Systemic Mastocytosis 12 58 15 71
Lymphadenopathic Mastocytosis with Eosinophilia 12
Asm 12

Characteristics:

Orphanet epidemiological data:

58
aggressive systemic mastocytosis
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare haematological diseases


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Summaries for Aggressive Systemic Mastocytosis

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MalaCards based summary : Aggressive Systemic Mastocytosis, also known as lymphadenopathic mastocytosis with eosinophilia, is related to systemic mastocytosis and mast-cell leukemia. An important gene associated with Aggressive Systemic Mastocytosis is TET2 (Tet Methylcytosine Dioxygenase 2), and among its related pathways/superpathways are TGF-Beta Pathway and Cytokine Signaling in Immune system. The drugs midostaurin and Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and bone marrow, and related phenotypes are splenomegaly and fatigue

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Related Diseases for Aggressive Systemic Mastocytosis

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Diseases related to Aggressive Systemic Mastocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 32.7 U2AF1 TNFRSF8 TET2 STAT5A SRSF2 PTPN11
2 mast-cell leukemia 31.1 U2AF1 TNFRSF8 KITLG KIT
3 mastocytosis, cutaneous 30.8 TET2 KITLG KIT IFNA2 FIP1L1 CD2
4 mastocytosis 30.6 TNFRSF8 TET2 STAT5A SRSF2 PTPN11 KITLG
5 hypereosinophilic syndrome 30.6 KIT IFNA2 IFNA1 FIP1L1
6 mast-cell sarcoma 30.5 TNFRSF8 KITLG KIT FIP1L1 CD2
7 thrombocytopenia 30.5 U2AF1 RUNX1 KITLG IFNA2 IFNA1
8 mast cell neoplasm 30.5 U2AF1 SRSF2 KITLG KIT FLT3 FIP1L1
9 gastrointestinal stromal tumor 30.4 KITLG KIT FLT3 CBL
10 extracutaneous mastocytoma 30.4 U2AF1 TET2 SRSF2 KITLG KIT FIP1L1
11 indolent systemic mastocytosis 30.2 U2AF1 TET2 SRSF2 KITLG KIT FIP1L1
12 myeloid leukemia 30.0 U2AF1 TET2 STAT5A RUNX1 PTPN11 KIT
13 leukemia, acute myeloid 29.3 U2AF1 TNFRSF8 TET2 STAT5A SRSF2 RUNX1
14 niemann-pick disease 11.6
15 corneal intraepithelial neoplasm 10.7 IFNA2 IFNA1
16 lymphomatoid granulomatosis 10.6 IFNA2 IFNA1
17 polycythemia 10.6 TET2 STAT5A KITLG
18 malignant dermis tumor 10.6 KIT IFNA2
19 cryoglobulinemia, familial mixed 10.6 IFNA2 IFNA1
20 malignant skin fibrous histiocytoma 10.6 KIT IFNA2
21 intratubular embryonal carcinoma 10.6 TNFRSF8 KIT
22 benign mastocytoma 10.6 KIT CD2
23 acute myeloblastic leukemia with maturation 10.6 KIT FLT3
24 mixed germ cell cancer 10.6 TNFRSF8 KIT
25 mucosal melanoma 10.6 KIT IFNA2 IFNA1
26 cutaneous solitary mastocytoma 10.6 KITLG KIT CD2
27 secondary corneal edema 10.6 IFNA2 IFNA1
28 refractory cytopenia with multilineage dysplasia 10.6 U2AF1 TET2 ASXL1
29 acute myeloid leukemia with t(8;21)(q22;q22) translocation 10.6 RUNX1 KIT FLT3
30 follicular mucinosis 10.6 TNFRSF8 IFNA2 CD2
31 testicular disease 10.6 TNFRSF8 KITLG KIT
32 refractory anemia 10.6 TET2 RUNX1 ASXL1
33 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.6 RUNX1 KIT FLT3
34 parapsoriasis 10.6 TNFRSF8 CD2
35 myelophthisic anemia 10.5 U2AF1 SRSF2 ASXL1
36 hypereosinophilic syndrome, idiopathic 10.5 KIT FIP1L1
37 cebpa-associated familial acute myeloid leukemia 10.5 RUNX1 KIT FLT3
38 dermatitis, atopic 10.5
39 breast lymphoma 10.5 TNFRSF8 CD2
40 8p11 myeloproliferative syndrome 10.5 RUNX1 KIT FLT3
41 systemic mastocytosis with associated hematologic neoplasm 10.5 TET2 SRSF2 KIT ASXL1
42 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.5 KIT FIP1L1
43 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.5 PTPN11 CBL
44 dysgerminoma of ovary 10.5 KITLG KIT
45 lethal midline granuloma 10.5 TNFRSF8 CD2
46 myeloid sarcoma 10.5 U2AF1 KIT FLT3
47 blood coagulation disease 10.5 U2AF1 KIT IFNA1
48 ovarian gonadoblastoma 10.5 TNFRSF8 KIT
49 cutaneous t cell lymphoma 10.5 TNFRSF8 STAT5A IFNA2 IFNA1
50 childhood leukemia 10.5 TET2 STAT5A RUNX1 PTPN11

Graphical network of the top 20 diseases related to Aggressive Systemic Mastocytosis:



Diseases related to Aggressive Systemic Mastocytosis
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Symptoms & Phenotypes for Aggressive Systemic Mastocytosis

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Human phenotypes related to Aggressive Systemic Mastocytosis:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
4 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
5 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
6 eosinophilia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001880
7 mastocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100495
8 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
9 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
10 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
11 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
12 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
13 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
14 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
15 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
16 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
17 chronic diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002028
18 hypotension 58 31 frequent (33%) Frequent (79-30%) HP:0002615
19 leukopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001882
20 cardiac arrest 58 31 frequent (33%) Frequent (79-30%) HP:0001695
21 anaphylactic shock 58 31 frequent (33%) Frequent (79-30%) HP:0100845
22 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
23 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
24 xerostomia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000217
25 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
26 pulmonary infiltrates 58 31 occasional (7.5%) Occasional (29-5%) HP:0002113
27 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
28 sarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100242
29 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
30 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
31 asthma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002099
32 increased bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0011001
33 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
34 chronic leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005558
35 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
36 pancytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001876
37 myeloproliferative disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0005547
38 arrhythmia 58 Frequent (79-30%)
39 abnormality of bone marrow cell morphology 58 Very frequent (99-80%)
40 diarrhea 58 Frequent (79-30%)

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

26 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 10.13 FLT3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.13 KITLG
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-106 10.13 SMPD1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 10.13 IFNA1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.13 CBL
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10.13 FLT3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.13 FLT3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 10.13 CBL FLT3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 10.13 FLT3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.13 IFNA1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.13 CBL FLT3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.13 CBL
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 10.13 FLT3
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 10.13 FLT3
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 10.13 IFNA1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 10.13 FLT3
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.13 IFNA1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.13 IFNA1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.13 IFNA1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.13 CBL
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 10.13 KITLG
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.13 CBL
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 10.13 IFNA1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 10.13 SMPD1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.13 IFNA1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 10.13 SMPD1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-88 10.13 IFNA1
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.13 SMPD1
29 Decreased viability GR00055-A-1 9.72 CBL
30 Decreased viability GR00055-A-2 9.72 CBL
31 Decreased viability GR00106-A-0 9.72 FIP1L1 U2AF1
32 Decreased viability GR00173-A 9.72 FLT3
33 Decreased viability GR00221-A-1 9.72 FLT3 KIT
34 Decreased viability GR00221-A-2 9.72 CBL
35 Decreased viability GR00221-A-3 9.72 CBL
36 Decreased viability GR00221-A-4 9.72 FLT3
37 Decreased viability GR00240-S-1 9.72 ASAH1
38 Decreased viability GR00249-S 9.72 CD2 FIP1L1 RUNX1
39 Decreased viability GR00301-A 9.72 KIT
40 Decreased viability GR00381-A-1 9.72 ASAH1 SMPD1
41 Decreased viability GR00386-A-1 9.72 ASAH1 FIP1L1 KITLG SRSF2
42 Decreased viability GR00402-S-2 9.72 RUNX1 SRSF2 TNFRSF8 U2AF1

MGI Mouse Phenotypes related to Aggressive Systemic Mastocytosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.3 ASAH1 ASXL1 CBL FLT3 KIT KITLG
2 endocrine/exocrine gland MP:0005379 10.25 ASAH1 ASXL1 CBL FLT3 KIT KITLG
3 hematopoietic system MP:0005397 10.24 ASAH1 ASXL1 CBL FLT3 KIT KITLG
4 immune system MP:0005387 10.2 ASAH1 ASXL1 CBL FLT3 KIT KITLG
5 growth/size/body region MP:0005378 10.18 ASAH1 ASXL1 CBL FLT3 KIT KITLG
6 liver/biliary system MP:0005370 10 ASAH1 ASXL1 CBL KIT KITLG PTPN11
7 mortality/aging MP:0010768 9.97 ASAH1 ASXL1 CBL FLT3 KIT KITLG
8 neoplasm MP:0002006 9.5 ASXL1 FLT3 KIT KITLG PTPN11 RUNX1
9 skeleton MP:0005390 9.32 ASAH1 ASXL1 CBL FLT3 KIT KITLG
Sources

Drugs & Therapeutics for Aggressive Systemic Mastocytosis

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
2
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
3 Protein Kinase Inhibitors Phase 2
4 Angiogenesis Inhibitors Phase 2
5 Anti-Infective Agents Phase 2
6 Immunosuppressive Agents Phase 2
7 Anti-Bacterial Agents Phase 2
8 Immunologic Factors Phase 2
9 Immunoconjugates Phase 2
10 Imatinib Mesylate Phase 2 220127-57-1 123596
11 Immunoglobulins Phase 2
12 Antibodies Phase 2
13 Antibodies, Monoclonal Phase 2

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Phase II Single Arm Open Pilot Study to Demonstrate the Efficacy of Midostaurin in Symptom Improvement and Decrease of Mast Cell Burden in Patients With Indolent or Smoldering Systemic Mastocytosis. Unknown status NCT01920204 Phase 2 Midostaurin,
2 A Single Arm, Phase II, Open-Label Study to Determine the Efficacy of 100mg Twice Daily Oral Dosing of Midostaurin Administered to Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia +/- an Associated Hematological Clonal Non-Mast Cell Lineage Disease Completed NCT00782067 Phase 2 Midostaurin (PKC412)
3 A Single Arm, Phase 2, Open-Label Study to Determine the Efficacy of Twice Daily Oral Dosing of PKC412 <Midostaurin> Administered to Patients With Aggressive Systemic Mastocytosis (ASM) and Mast Cell Leukemia (MCL) Completed NCT00233454 Phase 2 Midostaurin
4 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
5 A Study of Brentuximab Vedotin (SGN-35) in CD30-Positive Systemic Mastocytosis With or Without an Associated Hematological Clonal Non-Mast Cell Lineage Disease (AHNMD) Completed NCT01807598 Phase 2 Brentuximab vedotin
6 Phase IIA Study of the Safety and Tolerability of the Use of Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
7 A Phase 2 Randomized Double-Blinded Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutaneous Sarilumab in Improving the Quality of Life in Subjects With Indolent Systemic Mastocytosis Recruiting NCT03770273 Phase 2
8 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
9 A Multicenter Phase 1, Open-Label Study of DCC-2618 to Assess Safety, Tolerability, and Pharmacokinetics in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618;DCC-2618
10 A Phase 1 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies Active, not recruiting NCT02561988 Phase 1 Avapritinib
11 Patient-Reported Outcome Questionnaire Development for Symptoms of Systemic Mastocytosis Completed NCT02380222
12 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254

Search NIH Clinical Center for Aggressive Systemic Mastocytosis

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Genetic Tests for Aggressive Systemic Mastocytosis

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Anatomical Context for Aggressive Systemic Mastocytosis

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MalaCards organs/tissues related to Aggressive Systemic Mastocytosis:

40
Bone, Myeloid, Bone Marrow, Liver, Ovary
Sources

Publications for Aggressive Systemic Mastocytosis

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Articles related to Aggressive Systemic Mastocytosis:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Presumed mast cell choroidal infiltrate in aggressive systemic mastocytosis. 61
32083227 2020
2
Aggressive systemic mastocytosis: a diagnostic challenge in a patient with myotonic dystrophy type 2: a case report. 61
31705184 2019
3
European Medicines Agency review of midostaurin (Rydapt) for the treatment of adult patients with acute myeloid leukaemia and systemic mastocytosis. 61
32392175 2019
4
Aggressive systemic mastocytosis: midostaurin is safe, feasible and associated with durable response post-haploidentical allogeneic stem cell transplant. 61
31111479 2019
5
Myelomastocytic Blast Cell Crisis in Resistant Tyrosine Kinase Inhibitor Chronic Myelogenous Leukemia: Case Report and Review of Literature. 61
31223555 2019
6
Telangiectasia macularis eruptiva perstans: a neglected type of mastocytosis with exclusively cutaneous involvement? A case series. 61
30973331 2019
7
Midostaurin for the management of FLT3-mutated acute myeloid leukemia and advanced systemic mastocytosis. 61
30753289 2019
8
Novel approaches to treating advanced systemic mastocytosis. 61
31372066 2019
9
FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis. 61
30115735 2018
10
BLU-285-the breakthrough in treatment of patients with aggressive systemic mastocytosis and gastrointestinal stromal tumor. 61
30023395 2018
11
Prevalence of CD30 immunostaining in neoplastic mast cells: A retrospective immunohistochemical study. 61
29794740 2018
12
Aggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia. 61
30069418 2018
13
Midostaurin: A Multiple Tyrosine Kinases Inhibitor in Acute Myeloid Leukemia and Systemic Mastocytosis. 61
30069632 2018
14
Midostaurin treatment in FLT3-mutated acute myeloid leukemia and systemic mastocytosis. 61
28960095 2017
15
A precision therapy against cancers driven by KIT/PDGFRA mutations. 61
29093181 2017
16
Neonatal aggressive systemic mastocytosis. 61
29192973 2017
17
In utero presentation of aggressive systemic mastocytosis in a neonate. 61
28369700 2017
18
Pharmacotherapy of mast cell disorders. 61
28570344 2017
19
Midostaurin: First Global Approval. 61
28612232 2017
20
Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future. 61
28254862 2017
21
Progressive multifocal leukoencephalopathy in a patient with systemic mastocytosis treated with cladribine. 61
28095350 2017
22
Case Report: Unusual Manifestation of KIT Negative Systemic Mastocytosis. 61
28855975 2016
23
A new humanized in vivo model of KIT D816V+ advanced systemic mastocytosis monitored using a secreted luciferase. 61
27783996 2016
24
Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. 61
27694501 2016
25
A unique presentation of pulmonary disease in advanced systemic mastocytosis, proven by the presence of mast cells in bronchoalveolar lavage: a case report. 61
27737699 2016
26
Systemic mastocytosis: A rare cause of non-cirrhotic portal hypertension. 61
27605890 2016
27
Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis. 61
27355533 2016
28
Systemic Mastocytosis with Associated Clonal Hematological Non-Mast Cell Lineage Disorder (MDS-RCMD): A Difficult Disease to Diagnose and Treat. 61
27408369 2016
29
Treatment of CD30-positive systemic mastocytosis with brentuximab vedotin. 61
26994848 2016
30
Telangiectasia macularis eruptiva perstans (TMEP): A form of cutaneous mastocytosis with potential systemic involvement. 61
26899198 2016
31
Systemic Mastocytosis with Smoldering Multiple Myeloma: Report of a Case. 61
27293930 2016
32
Ruxolitinib improves symptoms and quality of life in a patient with systemic mastocytosis. 61
26855781 2016
33
Aggressive systemic mastocytosis of the liver with cholangitis. 61
30191016 2015
34
Aggressive systemic mastocytosis mimicking lymphoma: description of an unusual presentation and review of the literature on current management strategies. 61
24707942 2014
35
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. 61
24989799 2014
36
Oncogenic KIT-induced aggressive systemic mastocytosis requires SHP2/PTPN11 phosphatase for disease progression in mice. 61
25026279 2014
37
Myelomastocytic leukemia: histopathological features, diagnostic criteria and differential diagnosis. 61
25025369 2014
38
An unusual case of aggressive systemic mastocytosis mimicking hepatic cirrhosis. 61
25009756 2014
39
Systemic mastocytosis - a diagnostic challenge. 61
25031064 2014
40
Ponatinib induces apoptosis in imatinib-resistant human mast cells by dephosphorylating mutant D816V KIT and silencing β-catenin signaling. 61
24552773 2014
41
Thalidomide in systemic mastocytosis: results from an open-label, multicentre, phase II study. 61
23432617 2013
42
Mast cell leukemia. 61
23243287 2013
43
Eosinophilia and bone lesion as clinical manifestations of aggressive systemic mastocytosis. 61
24369222 2013
44
An unusual case of aggressive systemic mastocytosis with associated refractory plasma cell myeloma. 61
23009979 2012
45
5-azacytidine and decitabine exert proapoptotic effects on neoplastic mast cells: role of FAS-demethylation and FAS re-expression, and synergism with FAS-ligand. 61
22438247 2012
46
Mastocytosis and related disorders. 61
22372203 2012
47
[Systemic mastocytosis: case report with literature review]. 61
22462357 2012
48
Evaluation of the WHO criteria for the classification of patients with mastocytosis. 61
21552214 2011
49
Imatinib mesylate for aggressive systemic mastocytosis with long bone osteolysis. 61
21679828 2011
50
Aberrant expression of CD30 in aggressive systemic mastocytosis and mast cell leukemia: a differential diagnosis to consider in aggressive hematopoietic CD30-positive neoplasms. 61
21261503 2011
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Variations for Aggressive Systemic Mastocytosis

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Expression for Aggressive Systemic Mastocytosis

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Search GEO for disease gene expression data for Aggressive Systemic Mastocytosis.
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Pathways for Aggressive Systemic Mastocytosis

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Pathways related to Aggressive Systemic Mastocytosis according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 63
Show member pathways
 13.35 STAT5A PTPN11 KITLG KIT IFNA2 IFNA1
2
Cytokine Signaling in Immune system 65
Show member pathways
 13.08 TNFRSF8 STAT5A PTPN11 KITLG KIT IFNA2
3
Endometrial cancer 36
Show member pathways
 12.7 STAT5A RUNX1 PTPN11 KIT FLT3 CBL
4
Immune response Role of DAP12 receptors in NK cells 22
Show member pathways
 12.38 PTPN11 IFNA2 IFNA1 CBL
5
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.29 STAT5A KITLG KIT FLT3 CBL
6
Development FGFR signaling pathway 22
Show member pathways
 12.29 STAT5A PTPN11 FLT3 CBL
7
Pathways in cancer 36
12.28 STAT5A RUNX1 KITLG KIT IFNA2 IFNA1
8
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.12 PTPN11 KITLG KIT IFNA2 IFNA1
9
Necroptosis 36
Show member pathways
 12.07 STAT5A SMPD1 IFNA2 IFNA1
10
Tyrosine Kinases / Adaptors 4
11.97 KITLG KIT FLT3 CBL
11
Kit receptor signaling pathway 1
Show member pathways
 11.86 STAT5A PTPN11 KITLG KIT CBL
12
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.76 STAT5A PTPN11 CBL
13
NF-kappaB Signaling 4
11.74 TNFRSF8 STAT5A RUNX1 KITLG KIT IFNA1
14
Hematopoietic cell lineage 36
11.73 KITLG KIT FLT3 CD2
15
Dendritic Cells Developmental Lineage Pathway 64
11.63 KIT IFNA2 FLT3
16
Hematopoietic Stem Cells and Lineage-specific Markers 64
11.62 KITLG KIT IFNA2 FLT3 CD2
17
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.5 STAT5A SMPD1 SGMS1 PTPN11
18
Interferon type I signaling pathways 1
11.47 STAT5A PTPN11 CBL
19
PDGFR-beta signaling pathway 1
11.46 STAT5A PTPN11 CBL
20
Hematopoietic Stem Cell Differentiation 1
11.38 STAT5A RUNX1 KITLG
21
Regulation of KIT signaling 65
10.78 KITLG KIT CBL
22
sphingomyelin metabolism/ceramide salvage 1
10.41 SMPD1 SGMS1
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GO Terms for Aggressive Systemic Mastocytosis

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.71 KITLG KIT CBL
2 mRNA export from nucleus GO:0006406 9.7 U2AF1 SRSF2 FIP1L1
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.67 KIT FLT3 CBL
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 KIT IFNA2 FLT3
5 positive regulation of MAP kinase activity GO:0043406 9.63 KITLG KIT FLT3
6 mRNA 3'-end processing GO:0031124 9.58 U2AF1 SRSF2 FIP1L1
7 megakaryocyte development GO:0035855 9.56 PTPN11 KIT
8 embryonic hemopoiesis GO:0035162 9.55 KITLG KIT
9 mast cell degranulation GO:0043303 9.51 KIT CBL
10 glycosphingolipid metabolic process GO:0006687 9.5 SMPD1 KIT ASAH1
11 B cell differentiation GO:0030183 9.46 KIT IFNA2 IFNA1 FLT3
12 ectopic germ cell programmed cell death GO:0035234 9.43 KITLG KIT
13 ceramide biosynthetic process GO:0046513 9.43 SMPD1 SGMS1 ASAH1
14 myeloid progenitor cell differentiation GO:0002318 9.37 KIT FLT3
15 hemopoiesis GO:0030097 9.26 RUNX1 KIT FLT3 ASXL1
16 cytokine-mediated signaling pathway GO:0019221 9.17 STAT5A PTPN11 KIT IFNA2 IFNA1 FLT3

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

# Name GO ID Score Top Affiliating Genes
1 type I interferon receptor binding GO:0005132 8.96 IFNA2 IFNA1
2 receptor tyrosine kinase binding GO:0030971 8.8 PTPN11 CD2 CBL
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Sources for Aggressive Systemic Mastocytosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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