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 59 15 73
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:



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 TGF-Beta Pathway and Ras signaling pathway. The drugs Midostaurin and Staurosporine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are depressivity 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 53)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 32.5 IFNA2 KIT KITLG
2 mastocytosis 31.0 IFNA2 KIT KITLG
3 mast-cell leukemia 30.3 KIT KITLG
4 niemann-pick disease 11.4
5 sarcomatoid renal cell carcinoma 10.2 IFNA2 KIT
6 indolent systemic mastocytosis 10.1 KIT KITLG
7 cutaneous solitary mastocytoma 10.1 KIT KITLG
8 mast cell neoplasm 10.1 KIT KITLG
9 ewing's family of tumors 10.1 KIT KITLG
10 malignant skin fibrous histiocytoma 10.1 IFNA2 KIT
11 dowling-degos disease 1 10.1 KIT KITLG
12 malignant dermis tumor 10.1 IFNA2 KIT
13 pigmentation disease 10.1 KIT KITLG
14 aging 10.1
15 mastocytosis, cutaneous 10.1 KIT KITLG
16 neurofibroma 10.1 KIT KITLG
17 piebald trait 10.1 KIT KITLG
18 leukemia 10.0
19 cholangitis 10.0
20 neurofibromatosis, type iv, of riccardi 10.0 KIT PTPN11
21 testicular germ cell tumor 10.0 KIT KITLG
22 triiodothyronine receptor auxiliary protein 10.0
23 asthma 10.0
24 dermatitis, atopic 10.0
25 dengue shock syndrome 10.0
26 colitis 10.0
27 dermatitis 10.0
28 skin atrophy 10.0
29 allergic asthma 10.0
30 acid sphingomyelinase deficiency 10.0
31 isolated optic neuritis 10.0
32 hematologic cancer 9.9 KIT KITLG PTPN11
33 hemihyperplasia, isolated 9.9 H19 SMPD1
34 gastrointestinal stromal tumor 9.9
35 glomerulonephritis 9.9
36 lymphoma 9.9
37 protein-losing enteropathy 9.9
38 sarcoma 9.9
39 pure red-cell aplasia 9.9
40 cholestasis 9.9
41 sclerosing cholangitis 9.9
42 histiocytosis 9.9
43 germ cells tumors 9.9
44 leukemia, acute myeloid 9.9 KIT KITLG PTPN11
45 severe congenital neutropenia 9.9 KITLG PTPN11
46 bone marrow cancer 9.8 IFNA2 KIT KITLG PTPN11
47 myelodysplastic syndrome 9.8 KIT KITLG PTPN11
48 germ cell cancer 9.8 H19 KIT KITLG
49 polycythemia vera 9.8 H19 KIT KITLG
50 myeloproliferative neoplasm 9.8 H19 KIT PTPN11

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 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
2 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
3 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
4 hypotension 59 32 frequent (33%) Frequent (79-30%) HP:0002615
5 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
6 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
7 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
8 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
9 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
10 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
11 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
12 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
13 pancytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001876
14 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
15 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
16 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
17 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
18 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
19 anorexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002039
20 xerostomia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000217
21 sarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0100242
22 asthma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002099
23 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
24 chronic diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002028
25 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
26 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
27 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
28 chronic leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005558
29 increased bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0011001
30 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
31 eosinophilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001880
32 cardiac arrest 59 32 frequent (33%) Frequent (79-30%) HP:0001695
33 mastocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100495
34 leukopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001882
35 pulmonary infiltrates 59 32 occasional (7.5%) Occasional (29-5%) HP:0002113
36 myeloproliferative disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0005547
37 anaphylactic shock 59 32 frequent (33%) Frequent (79-30%) HP:0100845
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 9.35 KIT KITLG MEI1 PTPN11 UBE2B
2 reproductive system MP:0005389 9.1 KIT KITLG MEI1 PTPN11 SMPD1 UBE2B

Drugs & Therapeutics for Aggressive Systemic Mastocytosis

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
2 Staurosporine Experimental Phase 2 62996-74-1
3 Specific substance maruyama Phase 2
4 Protein Kinase Inhibitors Phase 2
5 tyrosine Phase 2
6 Antibodies, Monoclonal Phase 2
7 Antibodies Phase 2
8 Immunologic Factors Phase 2
9 Immunoglobulins Phase 2
10 Anti-Bacterial Agents Phase 2
11 Immunosuppressive Agents Phase 2
12 Anti-Infective Agents Phase 2
13 Angiogenesis Modulating Agents Phase 2
14 Angiogenesis Inhibitors Phase 2
15 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 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

Genetic Tests for Aggressive Systemic Mastocytosis

Anatomical Context for Aggressive Systemic Mastocytosis

MalaCards organs/tissues related to Aggressive Systemic Mastocytosis:

41
Bone, Bone Marrow, Myeloid, Liver, Ovary, Skin

Publications for Aggressive Systemic Mastocytosis

Articles related to Aggressive Systemic Mastocytosis:

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

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 IFNA2 KIT KITLG PTPN11 UBE2B
2
Show member pathways
12.35 KIT KITLG PTPN11
3
Show member pathways
12.34 KIT KITLG PTPN11
4
Show member pathways
11.89 KIT KITLG PTPN11
5
Show member pathways
11.64 KIT KITLG PTPN11
6 11.4 KIT KITLG
7 11.36 IFNA2 KIT
8
Show member pathways
11.3 PTPN11 SMPD1
9 11.2 IFNA2 KIT KITLG
10 11.14 KIT KITLG
11
Show member pathways
11.13 IFNA2 KIT KITLG PTPN11
12 11.02 KIT KITLG
13 10.94 IFNA2 PTPN11
14 10.36 KIT KITLG

GO Terms for Aggressive Systemic Mastocytosis

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

(show all 11)
# 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 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.49 IFNA2 KIT
4 positive regulation of MAP kinase activity GO:0043406 9.48 KIT KITLG
5 ovarian follicle development GO:0001541 9.43 KIT KITLG
6 glycosphingolipid metabolic process GO:0006687 9.4 KIT SMPD1
7 phosphatidylinositol phosphorylation GO:0046854 9.33 KIT KITLG PTPN11
8 embryonic hemopoiesis GO:0035162 9.32 KIT KITLG
9 megakaryocyte development GO:0035855 9.26 KIT PTPN11
10 meiotic telomere clustering GO:0045141 8.96 MEI1 UBE2B
11 ectopic germ cell programmed cell death GO:0035234 8.62 KIT KITLG

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.8 KIT KITLG PTPN11

Sources for Aggressive Systemic Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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