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MCID: AGG002
MIFTS: 46

Aggressive Systemic Mastocytosis

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 60 15 74
Lymphadenopathic Mastocytosis with Eosinophilia 12
Asm 12

Characteristics:

Orphanet epidemiological data:

60
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: 35
Orphanet: 60  
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 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

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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 59)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 32.7 IFNA2 KIT KITLG
2 mastocytosis 31.2 IFNA2 KIT KITLG
3 mast-cell leukemia 30.5 KIT KITLG
4 niemann-pick disease 11.5
5 candidiasis 10.3
6 sarcomatoid renal cell carcinoma 10.3 IFNA2 KIT
7 indolent systemic mastocytosis 10.3 KIT KITLG
8 cutaneous solitary mastocytoma 10.3 KIT KITLG
9 mast cell neoplasm 10.2 KIT KITLG
10 ewing's family of tumors 10.2 KIT KITLG
11 malignant skin fibrous histiocytoma 10.2 IFNA2 KIT
12 dowling-degos disease 1 10.2 KIT KITLG
13 malignant dermis tumor 10.2 IFNA2 KIT
14 mastocytosis, cutaneous 10.1 KIT KITLG
15 neurofibroma 10.1 KIT KITLG
16 aging 10.1
17 dermatitis, atopic 10.1
18 dermatitis 10.1
19 piebald trait 10.1 KIT KITLG
20 leukemia 10.1
21 cholangitis 10.1
22 hemihyperplasia, isolated 10.0 H19 SMPD1
23 neurofibromatosis, type iv, of riccardi 10.0 KIT PTPN11
24 hematologic cancer 10.0 KIT KITLG PTPN11
25 aortic aneurysm, familial abdominal, 1 9.9
26 radin blood group antigen 9.9
27 buschke-ollendorff syndrome 9.9
28 triiodothyronine receptor auxiliary protein 9.9
29 asthma 9.9
30 salla disease 9.9
31 west nile virus 9.9
32 blood group, gerbich system 9.9
33 dengue shock syndrome 9.9
34 colitis 9.9
35 skin atrophy 9.9
36 aortic aneurysm 9.9
37 allergic asthma 9.9
38 acid sphingomyelinase deficiency 9.9
39 isolated optic neuritis 9.9
40 gastrointestinal stromal tumor 9.9
41 glomerulonephritis 9.9
42 lymphoma 9.9
43 protein-losing enteropathy 9.9
44 sarcoma 9.9
45 pure red-cell aplasia 9.9
46 cholestasis 9.9
47 sclerosing cholangitis 9.9
48 histiocytosis 9.9
49 hypereosinophilic syndrome 9.9
50 chromosomal triplication 9.9

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:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000975
2 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
3 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
4 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
5 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
6 eosinophilia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001880
7 mastocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100495
8 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
9 hypotension 60 33 frequent (33%) Frequent (79-30%) HP:0002615
10 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
11 malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002024
12 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
13 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
14 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
15 abdominal pain 60 33 frequent (33%) Frequent (79-30%) HP:0002027
16 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
17 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
18 chronic diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002028
19 cardiac arrest 60 33 frequent (33%) Frequent (79-30%) HP:0001695
20 leukopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001882
21 anaphylactic shock 60 33 frequent (33%) Frequent (79-30%) HP:0100845
22 dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002094
23 pancytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001876
24 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
25 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
26 anorexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002039
27 xerostomia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000217
28 sarcoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0100242
29 asthma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002099
30 recurrent fractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002757
31 acute leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002488
32 lymphoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002665
33 chronic leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0005558
34 increased bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0011001
35 lymphadenopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002716
36 pulmonary infiltrates 60 33 occasional (7.5%) Occasional (29-5%) HP:0002113
37 myeloproliferative disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0005547
38 arrhythmia 60 Frequent (79-30%)
39 diarrhea 60 Frequent (79-30%)
40 abnormality of bone marrow cell morphology 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Aggressive Systemic Mastocytosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.1 KIT KITLG MEI1 PTPN11 SMPD1 UBE2B
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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
midostaurin Approved, Investigational Phase 2 120685-11-2 9829523 104937
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 Immunoglobulins Phase 2
7 Antibodies Phase 2
8 Immunologic Factors Phase 2
9 Antibodies, Monoclonal Phase 2
10 Immunoconjugates Phase 2
11 Angiogenesis Inhibitors Phase 2
12 Anti-Bacterial Agents Phase 2
13 Angiogenesis Modulating Agents Phase 2
14 Anti-Infective Agents Phase 2
15 Immunosuppressive Agents Phase 2
16 Imatinib Mesylate Phase 2 220127-57-1 123596

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Midostaurin in Indolent Systemic Mastocytosis Unknown status NCT01920204 Phase 2 Midostaurin,
2 Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia Completed NCT00782067 Phase 2 Midostaurin (PKC412)
3 Phase 2 Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia Completed NCT00233454 Phase 2 Midostaurin
4 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia Completed NCT01807598 Phase 2 Brentuximab vedotin
5 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2 thalidomide
6 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
7 (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
8 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
9 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618
10 (EXPLORER) Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 Avapritinib
11 Patient-Reported Outcome Questionnaire for 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:

42
Bone, Myeloid, Bone Marrow, Skin, Liver, Ovary
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Publications for Aggressive Systemic Mastocytosis

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Articles related to Aggressive Systemic Mastocytosis:

(show all 36)
# Title Authors Year
1
Aggressive systemic mastocytosis: midostaurin is safe, feasible and associated with durable response post-haploidentical allogeneic stem cell transplant. ( 31111479 )
2019
2
Aggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia. ( 30069418 )
2018
3
BLU-285-the breakthrough in treatment of patients with aggressive systemic mastocytosis and gastrointestinal stromal tumor. ( 30023395 )
2018
4
In utero presentation of aggressive systemic mastocytosis in a neonate. ( 28369700 )
2017
5
Neonatal aggressive systemic mastocytosis. ( 29192973 )
2017
6
Aggressive systemic mastocytosis of the liver with cholangitis. ( 30191016 )
2015
7
Aggressive systemic mastocytosis mimicking lymphoma: description of an unusual presentation and review of the literature on current management strategies. ( 24707942 )
2014
8
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. ( 24989799 )
2014
9
An unusual case of aggressive systemic mastocytosis mimicking hepatic cirrhosis. ( 25009756 )
2014
10
Oncogenic KIT-induced aggressive systemic mastocytosis requires SHP2/PTPN11 phosphatase for disease progression in mice. ( 25026279 )
2014
11
Eosinophilia and bone lesion as clinical manifestations of aggressive systemic mastocytosis. ( 24369222 )
2013
12
An unusual case of aggressive systemic mastocytosis with associated refractory plasma cell myeloma. ( 23009979 )
2012
13
Endoscopic ultrasound-guided fine needle aspiration: a powerful modality in the diagnosis of aggressive systemic mastocytosis. ( 20497208 )
2011
14
Aggressive systemic mastocytosis associated with mesangioproliferative glomerulonephritis. ( 21196717 )
2011
15
Aberrant expression of CD30 in aggressive systemic mastocytosis and mast cell leukemia: a differential diagnosis to consider in aggressive hematopoietic CD30-positive neoplasms. ( 21261503 )
2011
16
Imatinib mesylate for aggressive systemic mastocytosis with long bone osteolysis. ( 21679828 )
2011
17
Aggressive systemic mastocytosis with Charcot-Leyden crystals-associated crystal storing histiocytosis in bone marrow. ( 20025488 )
2010
18
Treatment of aggressive systemic mastocytosis with daclizumab. ( 20038223 )
2010
19
Aggressive systemic mastocytosis complicated by protein-losing enteropathy. ( 16843741 )
2007
20
Imatinib mesylate responsiveness in aggressive systemic mastocytosis: novel association with a platelet derived growth factor receptor beta mutation. ( 17133421 )
2007
21
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. ( 17259998 )
2007
22
Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. ( 17551405 )
2007
23
Aggressive systemic mastocytosis presenting with hepatic cholestasis. ( 17873616 )
2007
24
Aggressive systemic mastocytosis with sarcoma-like growth in the skeleton, leukemic progression, and partial loss of mast cell differentiation antigens. ( 18055976 )
2007
25
Establishment of a murine model of aggressive systemic mastocytosis/mast cell leukemia. ( 16543062 )
2006
26
Aggressive systemic mastocytosis: is there a role for trisomy 8? ( 15725484 )
2005
27
Aggressive systemic mastocytosis: a case report and brief review of the literature. ( 15794480 )
2005
28
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. ( 14687620 )
2004
29
Inefficacy of imatinib-mesylate in sporadic, aggressive systemic mastocytosis. ( 15109544 )
2004
30
Aggressive systemic mastocytosis mimicking sclerosing cholangitis. ( 15377487 )
2004
31
[A case of aggressive systemic mastocytosis]. ( 15088425 )
2004
32
Aggressive systemic mastocytosis. ( 12639621 )
2003
33
Aggressive systemic mastocytosis and related mast cell disorders: current treatment options and proposed response criteria. ( 12681363 )
2003
34
Response to cyclosporin and low-dose methylprednisolone in aggressive systemic mastocytosis. ( 10329843 )
1999
35
The presence of membrane-bound stem cell factor on highly immature nonmetachromatic mast cells in the peripheral blood of a patient with aggressive systemic mastocytosis. ( 8876560 )
1996
36
Lymphadenopathic mastocytosis with eosinophilia and biclonal gammopathy. ( 2115055 )
1990
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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:

# Super pathways Score Top Affiliating Genes
1
Phospholipase D signaling pathway 38
Show member pathways
 11.94 KIT KITLG PTPN11
2
Kit receptor signaling pathway 1
Show member pathways
 11.64 KIT KITLG PTPN11
3
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.2 IFNA2 KIT KITLG
4
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 11.13 IFNA2 KIT KITLG PTPN11
5
Differentiation Pathway 1
11.11 KIT KITLG
6
Melanocyte Development and Pigmentation 65
11.02 KIT KITLG
7
Type II interferon signaling (IFNG) 1
10.89 IFNA2 PTPN11
8
Regulation of KIT signaling 67
10.36 KIT KITLG
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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:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.63 IFNA2 KIT PTPN11
2 positive regulation of protein kinase B signaling GO:0051897 9.54 KIT KITLG PTPN11
3 ovarian follicle development GO:0001541 9.43 KIT KITLG
4 glycosphingolipid metabolic process GO:0006687 9.4 KIT SMPD1
5 spermatid development GO:0007286 9.33 KIT MEI1 TNP1
6 embryonic hemopoiesis GO:0035162 9.32 KIT KITLG
7 megakaryocyte development GO:0035855 9.26 KIT PTPN11
8 meiotic telomere clustering GO:0045141 8.96 MEI1 UBE2B
9 ectopic germ cell programmed cell death GO:0035234 8.62 KIT KITLG
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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
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
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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