ASM
MCID: AGG002
MIFTS: 49

Aggressive Systemic Mastocytosis (ASM)

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Aggressive Systemic Mastocytosis

MalaCards integrated aliases for Aggressive Systemic Mastocytosis:

Name: Aggressive Systemic Mastocytosis 12 58 15 70
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:

Orphanet: 58  
Rare haematological diseases


Summaries for Aggressive Systemic Mastocytosis

MalaCards based summary : Aggressive Systemic Mastocytosis, also known as lymphadenopathic mastocytosis with eosinophilia, is related to systemic mastocytosis and mastocytosis. 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 Thalidomide and midostaurin have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and bone marrow, and related phenotypes are nausea and vomiting and hyperhidrosis

Related Diseases for Aggressive Systemic Mastocytosis

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

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 32.2 TNFRSF8 TET2 STAT5A SRSF2 PTPN11 KITLG
2 mastocytosis 31.0 TNFRSF8 TET2 STAT5A SRSF2 KITLG KIT
3 mast-cell leukemia 31.0 U2AF1 TNFRSF8 KITLG KIT
4 mast cell neoplasm 30.8 U2AF1 KITLG KIT FLT3 CD2
5 gastrointestinal stromal tumor 30.6 KITLG KIT FLT3 CBL
6 dysgerminoma of ovary 30.6 KITLG KIT
7 hypereosinophilic syndrome 30.5 KIT IFNA2 IFNA1 FIP1L1
8 mast-cell sarcoma 30.5 KITLG KIT FIP1L1 CD2
9 extracutaneous mastocytoma 30.5 U2AF1 TET2 SRSF2 KITLG KIT FIP1L1
10 mastocytosis, cutaneous 30.4 TET2 KITLG KIT IFNA2 FIP1L1 CD2
11 myeloid leukemia 30.2 U2AF1 TET2 STAT5A RUNX1 PTPN11 KIT
12 thrombocytopenia 30.1 U2AF1 TNFRSF8 RUNX1 PTPN11 KITLG KIT
13 indolent systemic mastocytosis 30.1 U2AF1 TNFRSF8 TET2 SRSF2 KITLG KIT
14 leukemia, acute myeloid 29.7 U2AF1 TNFRSF8 TET2 STAT5A SRSF2 RUNX1
15 niemann-pick disease 11.0
16 corneal intraepithelial neoplasm 10.5 IFNA2 IFNA1
17 lymphomatoid granulomatosis 10.5 IFNA2 IFNA1
18 malignant dermis tumor 10.5 KIT IFNA2
19 malignant skin fibrous histiocytoma 10.5 KIT IFNA2
20 cryoglobulinemia, familial mixed 10.5 IFNA2 IFNA1
21 benign mastocytoma 10.5 KIT CD2
22 intratubular embryonal carcinoma 10.5 TNFRSF8 KIT
23 mixed germ cell cancer 10.5 TNFRSF8 KIT
24 pleural lipoma 10.5 TNFRSF8 KIT
25 acute myeloblastic leukemia with maturation 10.5 KIT FLT3
26 internal hordeolum 10.5 IFNA2 IFNA1
27 mucosal melanoma 10.4 KIT IFNA2 IFNA1
28 parapsoriasis 10.4 TNFRSF8 CD2
29 cutaneous solitary mastocytoma 10.4 KITLG KIT CD2
30 testicular disease 10.4 TNFRSF8 KITLG KIT
31 conjunctival squamous cell carcinoma 10.4 IFNA2 IFNA1
32 follicular mucinosis 10.4 TNFRSF8 IFNA2 CD2
33 refractory cytopenia with multilineage dysplasia 10.4 U2AF1 TET2 ASXL1
34 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.4 KIT FIP1L1
35 refractory anemia 10.4 TET2 RUNX1 ASXL1
36 hypereosinophilic syndrome, idiopathic 10.4 KIT FIP1L1
37 breast lymphoma 10.4 TNFRSF8 CD2
38 acute myeloid leukemia with t(8;21)(q22;q22) translocation 10.4 RUNX1 KIT FLT3
39 lethal midline granuloma 10.4 TNFRSF8 CD2
40 squamous papillomatosis 10.4 IFNA2 IFNA1
41 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.4 RUNX1 KIT FLT3
42 etv6 thrombocytopenia and predisposition to leukemia 10.4 RUNX1 KIT FLT3
43 ovarian gonadoblastoma 10.4 TNFRSF8 KIT
44 cebpa-associated familial acute myeloid leukemia 10.4 RUNX1 KIT FLT3
45 8p11 myeloproliferative syndrome 10.4 RUNX1 KIT FLT3
46 dendritic cell deficiency 10.4 U2AF1 ASXL1
47 systemic mastocytosis with associated hematologic neoplasm 10.4 TET2 SRSF2 KIT ASXL1
48 nasal cavity benign neoplasm 10.4 KIT CD2
49 mature t-cell and nk-cell lymphoma 10.4 TNFRSF8 TET2 CD2
50 myeloid sarcoma 10.4 U2AF1 KIT FLT3

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



Diseases related to Aggressive Systemic Mastocytosis

Symptoms & Phenotypes for Aggressive Systemic Mastocytosis

Human phenotypes related to Aggressive Systemic Mastocytosis:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
3 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
4 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
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 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
9 hypotension 58 31 frequent (33%) Frequent (79-30%) HP:0002615
10 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
11 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
12 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
13 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
14 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
15 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
16 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
17 chronic diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002028
18 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
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 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
23 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
24 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
25 sarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100242
26 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
27 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
28 asthma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002099
29 increased bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0011001
30 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
31 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
32 chronic leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005558
33 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
34 pancytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001876
35 pulmonary infiltrates 58 31 occasional (7.5%) Occasional (29-5%) HP:0002113
36 xerostomia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000217
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 ASAH1 ASXL1 CBL FLT3 KIT KITLG
2 hematopoietic system MP:0005397 10.24 ASAH1 ASXL1 CBL FLT3 KIT KITLG
3 endocrine/exocrine gland MP:0005379 10.22 ASAH1 ASXL1 CBL FLT3 KIT KITLG
4 immune system MP:0005387 10.2 ASAH1 ASXL1 CBL FLT3 KIT KITLG
5 liver/biliary system MP:0005370 10 ASAH1 ASXL1 CBL KIT KITLG PTPN11
6 mortality/aging MP:0010768 9.97 ASAH1 ASXL1 CBL FLT3 KIT KITLG
7 neoplasm MP:0002006 9.5 ASXL1 FLT3 KIT KITLG PTPN11 RUNX1
8 skeleton MP:0005390 9.32 ASAH1 ASXL1 CBL FLT3 KIT KITLG

Drugs & Therapeutics for Aggressive Systemic Mastocytosis

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
2
midostaurin Approved, Investigational Phase 2 120685-11-2 9829523 104937
3
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
4 Angiogenesis Inhibitors Phase 2
5 Immunosuppressive Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Immunologic Factors Phase 2
8 Anti-Bacterial Agents Phase 2
9 Immunoconjugates Phase 2
10 Antibodies Phase 2
11 Immunoglobulins Phase 2
12 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
2 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
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 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)
5 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
6 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
7 Mast Cell Connect: A Registry for Patients With Mastocytosis Completed NCT02620254
8 Patient-Reported Outcome Questionnaire Development for Symptoms of Systemic Mastocytosis Completed NCT02380222

Search NIH Clinical Center for Aggressive Systemic Mastocytosis

Genetic Tests for Aggressive Systemic Mastocytosis

Anatomical Context for Aggressive Systemic Mastocytosis

MalaCards organs/tissues related to Aggressive Systemic Mastocytosis:

40
Bone, Myeloid, Bone Marrow, Skin, Ovary

Publications for Aggressive Systemic Mastocytosis

Articles related to Aggressive Systemic Mastocytosis:

(show top 50) (show all 110)
# Title Authors PMID Year
1
Mastocytosis in the skin accompanied by pseudo-Kaposi's sarcoma. 61
33684229 2021
2
Real-World Efficacy of Midostaurin in Aggressive Systemic Mastocytosis. 61
33799933 2021
3
Aggressive systemic mastocytosis presenting as rapidly progressive ascites, generalised lymphadenopathy and osteosclerosis. 61
33558379 2021
4
A case of aggressive systemic mastocytosis with bulky lymphadenopathy showing response to midostaurin. 61
33598282 2021
5
Criteria for the Regression of Pediatric Mastocytosis: A Long-Term Follow-Up. 61
33338682 2020
6
A rare case of aggressive systemic mastocytosis manifesting with bullous lesions in a neonate. 61
33063702 2020
7
An aggressive systemic mastocytosis preceded by ovarian dysgerminoma. 61
33246418 2020
8
Presumed mast cell choroidal infiltrate in aggressive systemic mastocytosis. 61
32083227 2020
9
Aggressive systemic mastocytosis: a diagnostic challenge in a patient with myotonic dystrophy type 2: a case report. 61
31705184 2019
10
European Medicines Agency review of midostaurin (Rydapt) for the treatment of adult patients with acute myeloid leukaemia and systemic mastocytosis. 61
32392175 2019
11
Aggressive systemic mastocytosis: midostaurin is safe, feasible and associated with durable response post-haploidentical allogeneic stem cell transplant. 61
31111479 2019
12
Myelomastocytic Blast Cell Crisis in Resistant Tyrosine Kinase Inhibitor Chronic Myelogenous Leukemia: Case Report and Review of Literature. 61
31223555 2019
13
Telangiectasia macularis eruptiva perstans: a neglected type of mastocytosis with exclusively cutaneous involvement? A case series. 61
30973331 2019
14
Midostaurin for the management of FLT3-mutated acute myeloid leukemia and advanced systemic mastocytosis. 61
30753289 2019
15
Novel approaches to treating advanced systemic mastocytosis. 61
31372066 2019
16
FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis. 61
30115735 2018
17
BLU-285-the breakthrough in treatment of patients with aggressive systemic mastocytosis and gastrointestinal stromal tumor. 61
30023395 2018
18
Prevalence of CD30 immunostaining in neoplastic mast cells: A retrospective immunohistochemical study. 61
29794740 2018
19
Aggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia. 61
30069418 2018
20
Midostaurin: A Multiple Tyrosine Kinases Inhibitor in Acute Myeloid Leukemia and Systemic Mastocytosis. 61
30069632 2018
21
Midostaurin treatment in FLT3-mutated acute myeloid leukemia and systemic mastocytosis. 61
28960095 2017
22
A precision therapy against cancers driven by KIT/PDGFRA mutations. 61
29093181 2017
23
In utero presentation of aggressive systemic mastocytosis in a neonate. 61
28369700 2017
24
Neonatal aggressive systemic mastocytosis. 61
29192973 2017
25
Pharmacotherapy of mast cell disorders. 61
28570344 2017
26
Midostaurin: First Global Approval. 61
28612232 2017
27
Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future. 61
28254862 2017
28
Progressive multifocal leukoencephalopathy in a patient with systemic mastocytosis treated with cladribine. 61
28095350 2017
29
Case Report: Unusual Manifestation of KIT Negative Systemic Mastocytosis. 61
28855975 2016
30
A new humanized in vivo model of KIT D816V+ advanced systemic mastocytosis monitored using a secreted luciferase. 61
27783996 2016
31
Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. 61
27694501 2016
32
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
33
Systemic mastocytosis: A rare cause of non-cirrhotic portal hypertension. 61
27605890 2016
34
Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis. 61
27355533 2016
35
Systemic Mastocytosis with Associated Clonal Hematological Non-Mast Cell Lineage Disorder (MDS-RCMD): A Difficult Disease to Diagnose and Treat. 61
27408369 2016
36
Telangiectasia macularis eruptiva perstans (TMEP): A form of cutaneous mastocytosis with potential systemic involvement. 61
26899198 2016
37
Treatment of CD30-positive systemic mastocytosis with brentuximab vedotin. 61
26994848 2016
38
Ruxolitinib improves symptoms and quality of life in a patient with systemic mastocytosis. 61
26855781 2016
39
Systemic Mastocytosis with Smoldering Multiple Myeloma: Report of a Case. 61
27293930 2016
40
Aggressive systemic mastocytosis of the liver with cholangitis. 61
30191016 2015
41
Aggressive systemic mastocytosis mimicking lymphoma: description of an unusual presentation and review of the literature on current management strategies. 61
24707942 2014
42
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. 61
24989799 2014
43
Oncogenic KIT-induced aggressive systemic mastocytosis requires SHP2/PTPN11 phosphatase for disease progression in mice. 61
25026279 2014
44
Myelomastocytic leukemia: histopathological features, diagnostic criteria and differential diagnosis. 61
25025369 2014
45
An unusual case of aggressive systemic mastocytosis mimicking hepatic cirrhosis. 61
25009756 2014
46
Systemic mastocytosis - a diagnostic challenge. 61
25031064 2014
47
Ponatinib induces apoptosis in imatinib-resistant human mast cells by dephosphorylating mutant D816V KIT and silencing β-catenin signaling. 61
24552773 2014
48
Thalidomide in systemic mastocytosis: results from an open-label, multicentre, phase II study. 61
23432617 2013
49
Mast cell leukemia. 61
23243287 2013
50
Eosinophilia and bone lesion as clinical manifestations of aggressive systemic mastocytosis. 61
24369222 2013

Variations for Aggressive Systemic Mastocytosis

Expression for Aggressive Systemic Mastocytosis

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

Pathways for Aggressive Systemic Mastocytosis

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

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 STAT5A PTPN11 KITLG KIT IFNA2 IFNA1
2
Show member pathways
13.08 TNFRSF8 STAT5A PTPN11 KITLG KIT IFNA2
3
Show member pathways
12.7 STAT5A RUNX1 PTPN11 KIT FLT3 CBL
4
Show member pathways
12.39 PTPN11 IFNA2 IFNA1 CBL
5
Show member pathways
12.3 STAT5A PTPN11 IFNA2 IFNA1
6
Show member pathways
12.29 STAT5A KITLG KIT FLT3 CBL
7
Show member pathways
12.29 STAT5A PTPN11 FLT3 CBL
8 12.28 STAT5A RUNX1 KITLG KIT IFNA2 IFNA1
9
Show member pathways
12.12 PTPN11 KITLG KIT IFNA2 IFNA1
10
Show member pathways
12.07 STAT5A SMPD1 IFNA2 IFNA1
11 11.97 KITLG KIT FLT3 CBL
12
Show member pathways
11.86 STAT5A PTPN11 KITLG KIT CBL
13
Show member pathways
11.77 STAT5A PTPN11 CBL
14 11.74 TNFRSF8 STAT5A RUNX1 KITLG KIT IFNA1
15 11.73 KITLG KIT FLT3 CD2
16 11.63 KIT IFNA2 FLT3
17 11.62 KITLG KIT IFNA2 FLT3 CD2
18
Show member pathways
11.5 STAT5A SMPD1 SGMS1 PTPN11
19 11.47 STAT5A PTPN11 CBL
20 11.46 STAT5A PTPN11 CBL
21 11.38 STAT5A RUNX1 KITLG
22 10.78 KITLG KIT CBL
23 10.41 SMPD1 SGMS1

GO Terms for Aggressive Systemic Mastocytosis

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 mRNA export from nucleus GO:0006406 9.7 U2AF1 SRSF2 FIP1L1
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.69 KIT FLT3 CBL
3 positive regulation of tumor necrosis factor production GO:0032760 9.67 TNFRSF8 PTPN11 CD2
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 9.61 U2AF1 SRSF2 FIP1L1
7 mast cell degranulation GO:0043303 9.55 KIT CBL
8 megakaryocyte development GO:0035855 9.54 PTPN11 KIT
9 glycosphingolipid metabolic process GO:0006687 9.5 SMPD1 KIT ASAH1
10 B cell differentiation GO:0030183 9.46 KIT IFNA2 IFNA1 FLT3
11 ceramide biosynthetic process GO:0046513 9.43 SMPD1 SGMS1 ASAH1
12 ectopic germ cell programmed cell death GO:0035234 9.4 KITLG KIT
13 myeloid progenitor cell differentiation GO:0002318 9.37 KIT FLT3
14 hemopoiesis GO:0030097 9.26 RUNX1 KIT FLT3 ASXL1
15 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 protein binding GO:0005515 9.93 U2AF1 TNFRSF8 TET2 STAT5A SRSF2 SMPD1
2 type I interferon receptor binding GO:0005132 9.16 IFNA2 IFNA1
3 receptor tyrosine kinase binding GO:0030971 8.8 PTPN11 CD2 CBL

Sources for Aggressive Systemic Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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