ASM
MCID: AGG002
MIFTS: 43

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 59 15 72
Lymphadenopathic Mastocytosis with Eosinophilia 12
Asm 12

Characteristics:

Orphanet epidemiological data:

59
aggressive systemic mastocytosis
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:4798
MeSH 44 D034721
NCIt 50 C9285
ICD10 33 C96.21
ICD10 via Orphanet 34 C96.2
UMLS via Orphanet 73 C1112486
Orphanet 59 ORPHA98850
UMLS 72 C1112486

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 KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Phospholipase D signaling pathway and Kit receptor signaling pathway. 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 hyperhidrosis and nausea and vomiting

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 96)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 33.2 KITLG KIT IFNA2
2 mastocytosis 31.3 KITLG KIT IFNA2
3 mast-cell leukemia 30.9 KITLG KIT
4 mast cell neoplasm 30.8 KITLG KIT
5 mastocytosis, cutaneous 30.6 KITLG KIT
6 indolent systemic mastocytosis 30.5 KITLG KIT
7 leukemia, acute myeloid 29.1 PTPN11 KITLG KIT
8 niemann-pick disease 11.6
9 dermatitis, atopic 10.5
10 skin disease 10.5
11 sarcomatoid renal cell carcinoma 10.4 KIT IFNA2
12 dermatitis 10.4
13 cutaneous solitary mastocytoma 10.4 KITLG KIT
14 contact dermatitis 10.4
15 ewing's family of tumors 10.4 KITLG KIT
16 malignant skin fibrous histiocytoma 10.4 KIT IFNA2
17 dowling-degos disease 1 10.3 KITLG KIT
18 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
19 candidiasis 10.3
20 allergic contact dermatitis 10.3
21 malignant dermis tumor 10.3 KIT IFNA2
22 skin atrophy 10.2
23 neurofibroma 10.2 KITLG KIT
24 lentigines 10.1
25 niemann-pick disease, type a 10.1
26 pulmonary alveolar microlithiasis 10.1
27 aging 10.1
28 lymphocytic leukemia 10.1
29 basal cell carcinoma 10.1
30 pustulosis of palm and sole 10.1
31 psoriasis 10.1
32 chronic pain 10.1
33 piebald trait 10.1 KITLG KIT
34 cholestasis 10.1
35 sclerosing cholangitis 10.1
36 thrombocytopenia 10.1
37 extracutaneous mastocytoma 10.1
38 cholangitis 10.1
39 splenomegaly 10.1
40 neurofibromatosis, type iv, of riccardi 10.0 PTPN11 KIT
41 aortic aneurysm, familial abdominal, 1 10.0
42 alzheimer disease 10.0
43 pulmonary hypertension, primary, 1 10.0
44 triiodothyronine receptor auxiliary protein 10.0
45 methane production 10.0
46 asthma 10.0
47 stroke, ischemic 10.0
48 pulmonary disease, chronic obstructive 10.0
49 niemann-pick disease, type b 10.0
50 west nile virus 10.0

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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
2 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
3 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
4 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
5 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
6 eosinophilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001880
7 mastocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100495
8 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
9 hypotension 59 32 frequent (33%) Frequent (79-30%) HP:0002615
10 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
11 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
12 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
13 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
14 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
15 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
16 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
17 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
18 chronic diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002028
19 cardiac arrest 59 32 frequent (33%) Frequent (79-30%) HP:0001695
20 leukopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001882
21 anaphylactic shock 59 32 frequent (33%) Frequent (79-30%) HP:0100845
22 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
23 pancytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001876
24 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
25 xerostomia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000217
26 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
27 pulmonary infiltrates 59 32 occasional (7.5%) Occasional (29-5%) HP:0002113
28 anorexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002039
29 sarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0100242
30 asthma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002099
31 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
32 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
33 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
34 chronic leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005558
35 increased bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0011001
36 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
37 myeloproliferative disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0005547
38 arrhythmia 59 Frequent (79-30%)
39 diarrhea 59 Frequent (79-30%)
40 abnormality of bone marrow cell morphology 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Aggressive Systemic Mastocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.73 ASAH1 KIT KITLG MEI1 PTPN11 UBE2B
2 growth/size/body region MP:0005378 9.7 ASAH1 KIT KITLG PTPN11 SMPD1 UBE2B
3 liver/biliary system MP:0005370 9.35 ASAH1 KIT KITLG PTPN11 SMPD1
4 reproductive system MP:0005389 9.17 ASAH1 KIT KITLG MEI1 PTPN11 SMPD1

Drugs & Therapeutics for Aggressive Systemic Mastocytosis

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

(show all 16)
# 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 Staurosporine Experimental Phase 2 62996-74-1
4 Specific substance maruyama Phase 2
5 Protein Kinase Inhibitors Phase 2
6 Angiogenesis Inhibitors Phase 2
7 Anti-Infective Agents Phase 2
8 Angiogenesis Modulating Agents Phase 2
9 Anti-Bacterial Agents Phase 2
10 Immunosuppressive Agents Phase 2
11 Immunologic Factors Phase 2
12 Immunoconjugates Phase 2
13 Imatinib Mesylate Phase 2 220127-57-1 123596
14 Antibodies Phase 2
15 Antibodies, Monoclonal Phase 2
16 Immunoglobulins 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 Phase 1 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 Avapritinib
10 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
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

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Imatinib
Midostaurin

Genetic Tests for Aggressive Systemic Mastocytosis

Anatomical Context for Aggressive Systemic Mastocytosis

MalaCards organs/tissues related to Aggressive Systemic Mastocytosis:

41
Bone, Myeloid, Bone Marrow, Liver, Ovary

Publications for Aggressive Systemic Mastocytosis

Articles related to Aggressive Systemic Mastocytosis:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Aggressive systemic mastocytosis: midostaurin is safe, feasible and associated with durable response post-haploidentical allogeneic stem cell transplant. 38
31111479 2019
2
Myelomastocytic Blast Cell Crisis in Resistant Tyrosine Kinase Inhibitor Chronic Myelogenous Leukemia: Case Report and Review of Literature. 38
31223555 2019
3
Telangiectasia macularis eruptiva perstans: a neglected type of mastocytosis with exclusively cutaneous involvement? A case series. 38
30973331 2019
4
Midostaurin for the management of FLT3-mutated acute myeloid leukemia and advanced systemic mastocytosis. 38
30753289 2019
5
Novel approaches to treating advanced systemic mastocytosis. 38
31372066 2019
6
FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis. 38
30115735 2018
7
BLU-285-the breakthrough in treatment of patients with aggressive systemic mastocytosis and gastrointestinal stromal tumor. 38
30023395 2018
8
Prevalence of CD30 immunostaining in neoplastic mast cells: A retrospective immunohistochemical study. 38
29794740 2018
9
Aggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia. 38
30069418 2018
10
Midostaurin: A Multiple Tyrosine Kinases Inhibitor in Acute Myeloid Leukemia and Systemic Mastocytosis. 38
30069632 2018
11
Midostaurin treatment in FLT3-mutated acute myeloid leukemia and systemic mastocytosis. 38
28960095 2017
12
A precision therapy against cancers driven by KIT/PDGFRA mutations. 38
29093181 2017
13
Neonatal aggressive systemic mastocytosis. 38
29192973 2017
14
In utero presentation of aggressive systemic mastocytosis in a neonate. 38
28369700 2017
15
Pharmacotherapy of mast cell disorders. 38
28570344 2017
16
Midostaurin: First Global Approval. 38
28612232 2017
17
Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future. 38
28254862 2017
18
Progressive multifocal leukoencephalopathy in a patient with systemic mastocytosis treated with cladribine. 38
28095350 2017
19
Case Report: Unusual Manifestation of KIT Negative Systemic Mastocytosis. 38
28855975 2016
20
A new humanized in vivo model of KIT D816V+ advanced systemic mastocytosis monitored using a secreted luciferase. 38
27783996 2016
21
A unique presentation of pulmonary disease in advanced systemic mastocytosis, proven by the presence of mast cells in bronchoalveolar lavage: a case report. 38
27737699 2016
22
Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. 38
27694501 2016
23
Systemic mastocytosis: A rare cause of non-cirrhotic portal hypertension. 38
27605890 2016
24
Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis. 38
27355533 2016
25
Systemic Mastocytosis with Associated Clonal Hematological Non-Mast Cell Lineage Disorder (MDS-RCMD): A Difficult Disease to Diagnose and Treat. 38
27408369 2016
26
Treatment of CD30-positive systemic mastocytosis with brentuximab vedotin. 38
26994848 2016
27
Telangiectasia macularis eruptiva perstans (TMEP): A form of cutaneous mastocytosis with potential systemic involvement. 38
26899198 2016
28
Systemic Mastocytosis with Smoldering Multiple Myeloma: Report of a Case. 38
27293930 2016
29
Ruxolitinib improves symptoms and quality of life in a patient with systemic mastocytosis. 38
26855781 2016
30
Aggressive systemic mastocytosis of the liver with cholangitis. 38
30191016 2015
31
Aggressive systemic mastocytosis mimicking lymphoma: description of an unusual presentation and review of the literature on current management strategies. 38
24707942 2014
32
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. 38
24989799 2014
33
Oncogenic KIT-induced aggressive systemic mastocytosis requires SHP2/PTPN11 phosphatase for disease progression in mice. 38
25026279 2014
34
Myelomastocytic leukemia: histopathological features, diagnostic criteria and differential diagnosis. 38
25025369 2014
35
An unusual case of aggressive systemic mastocytosis mimicking hepatic cirrhosis. 38
25009756 2014
36
Systemic mastocytosis - a diagnostic challenge. 38
25031064 2014
37
Ponatinib induces apoptosis in imatinib-resistant human mast cells by dephosphorylating mutant D816V KIT and silencing β-catenin signaling. 38
24552773 2014
38
Thalidomide in systemic mastocytosis: results from an open-label, multicentre, phase II study. 38
23432617 2013
39
Mast cell leukemia. 38
23243287 2013
40
Eosinophilia and bone lesion as clinical manifestations of aggressive systemic mastocytosis. 38
24369222 2013
41
An unusual case of aggressive systemic mastocytosis with associated refractory plasma cell myeloma. 38
23009979 2012
42
5-azacytidine and decitabine exert proapoptotic effects on neoplastic mast cells: role of FAS-demethylation and FAS re-expression, and synergism with FAS-ligand. 38
22438247 2012
43
Mastocytosis and related disorders. 38
22372203 2012
44
[Systemic mastocytosis: case report with literature review]. 38
22462357 2012
45
Evaluation of the WHO criteria for the classification of patients with mastocytosis. 38
21552214 2011
46
Imatinib mesylate for aggressive systemic mastocytosis with long bone osteolysis. 38
21679828 2011
47
Aberrant expression of CD30 in aggressive systemic mastocytosis and mast cell leukemia: a differential diagnosis to consider in aggressive hematopoietic CD30-positive neoplasms. 38
21261503 2011
48
Aberrant expression of CD30 in neoplastic mast cells in high-grade mastocytosis. 38
21186345 2011
49
Endoscopic ultrasound-guided fine needle aspiration: a powerful modality in the diagnosis of aggressive systemic mastocytosis. 38
20497208 2011
50
Aggressive systemic mastocytosis associated with mesangioproliferative glomerulonephritis. 38
21196717 2011

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

GO Terms for Aggressive Systemic Mastocytosis

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

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.61 PTPN11 KIT IFNA2
2 positive regulation of protein kinase B signaling GO:0051897 9.54 PTPN11 KITLG KIT
3 ovarian follicle development GO:0001541 9.4 KITLG KIT
4 embryonic hemopoiesis GO:0035162 9.32 KITLG KIT
5 megakaryocyte development GO:0035855 9.26 PTPN11 KIT
6 meiotic telomere clustering GO:0045141 9.16 UBE2B MEI1
7 ectopic germ cell programmed cell death GO:0035234 8.96 KITLG KIT
8 glycosphingolipid metabolic process GO:0006687 8.8 SMPD1 KIT ASAH1

Sources for Aggressive Systemic Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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