MCID: AGG002
MIFTS: 46

Aggressive Systemic Mastocytosis

Categories: Blood diseases, Rare diseases, Immune 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 mast-cell leukemia. An important gene associated with Aggressive Systemic Mastocytosis is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Downstream signaling events of B Cell Receptor (BCR) and Phospholipase D signaling pathway. The drugs Staurosporine and 4'-N-benzoylstaurosporine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are xerostomia and depressivity

Related Diseases for Aggressive Systemic Mastocytosis

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 32.3 IFNA2 KIT KITLG
2 mast-cell leukemia 30.4 KIT KITLG
3 niemann-pick disease 11.3
4 sarcomatoid renal cell carcinoma 10.5 IFNA2 KIT
5 indolent systemic mastocytosis 10.5 KIT KITLG
6 cutaneous mastocytosis 10.4 KIT KITLG
7 urticaria pigmentosa 10.4 KIT KITLG
8 cutaneous solitary mastocytoma 10.4 KIT KITLG
9 malignant skin fibrous histiocytoma 10.4 IFNA2 KIT
10 ewing's family of tumors 10.4 KIT KITLG
11 malignant dermis tumor 10.4 IFNA2 KIT
12 dowling-degos disease 1 10.4 KIT KITLG
13 mast cell neoplasm 10.3 KIT KITLG
14 piebald trait 10.3 KIT KITLG
15 neurofibroma 10.2 KIT KITLG
16 leukocyte disease 10.1 KIT KITLG
17 mast cell disease 10.0 IFNA2 KIT KITLG
18 neurofibromatosis, type iv, of riccardi 10.0 KIT PTPN11
19 hepatitis 9.9
20 hematologic cancer 9.8 KIT KITLG PTPN11
21 glomerulonephritis 9.8
22 leukemia 9.8
23 lymphoma 9.8
24 protein-losing enteropathy 9.8
25 sarcoma 9.8
26 cholestasis 9.8
27 sclerosing cholangitis 9.8
28 histiocytosis 9.8
29 cholangitis 9.8
30 germ cells tumors 9.8
31 hemihyperplasia, isolated 9.8 H19 SMPD1
32 testicular germ cell tumor 9.7 KIT KITLG
33 leukemia, acute myeloid 9.7 KIT KITLG PTPN11
34 bone marrow cancer 9.5 IFNA2 KIT KITLG PTPN11
35 polycythemia vera 9.5 H19 KIT KITLG
36 myeloproliferative neoplasm 9.4 H19 KIT PTPN11
37 myelodysplastic syndrome 9.4 KIT KITLG PTPN11
38 renal cell carcinoma, nonpapillary 9.3 H19 IFNA2 KIT
39 leukemia, chronic myeloid 9.1 H19 IFNA2 KIT KITLG

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

MGI Mouse Phenotypes related to Aggressive Systemic Mastocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.02 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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Staurosporine Experimental Phase 2 62996-74-1
2 4'-N-benzoylstaurosporine Phase 2
3 Specific substance maruyama Phase 2
4 Protein Kinase Inhibitors Phase 2
5 Imatinib Mesylate Phase 2 220127-57-1 123596
6 Angiogenesis Inhibitors Phase 2
7 Angiogenesis Modulating Agents Phase 2
8 Anti-Bacterial Agents Phase 2
9 Antibodies Phase 2
10 Immunoglobulins Phase 2
11 Antibodies, Monoclonal Phase 2
12 Immunosuppressive Agents Phase 2
13 Anti-Infective Agents Phase 2
14 tyrosine Nutraceutical Phase 2

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 Phase 2 Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia Completed NCT00233454 Phase 2 Midostaurin
3 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia Completed NCT01807598 Phase 2 brentuximab vedotin
4 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2 thalidomide
5 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
6 Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia Active, not recruiting NCT00782067 Phase 2 Midostaurin (PKC412)
7 Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Not yet 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, Ovary

Publications for Aggressive Systemic Mastocytosis

Articles related to Aggressive Systemic Mastocytosis:

(show all 30)
# Title Authors Year
1
Neonatal aggressive systemic mastocytosis. ( 29192973 )
2017
2
In utero presentation of aggressive systemic mastocytosis in a neonate. ( 28369700 )
2017
3
Oncogenic KIT-induced aggressive systemic mastocytosis requires SHP2/PTPN11 phosphatase for disease progression in mice. ( 25026279 )
2014
4
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. ( 24989799 )
2014
5
Aggressive Systemic Mastocytosis mimicking lymphoma: Description of an unusual presentation and review of the literature on current management strategies. ( 24707942 )
2014
6
An unusual case of aggressive systemic mastocytosis mimicking hepatic cirrhosis. ( 25009756 )
2014
7
Eosinophilia and bone lesion as clinical manifestations of aggressive systemic mastocytosis. ( 24369222 )
2013
8
An unusual case of aggressive systemic mastocytosis with associated refractory plasma cell myeloma. ( 23009979 )
2012
9
Aggressive systemic mastocytosis associated with mesangioproliferative glomerulonephritis. ( 21196717 )
2011
10
Endoscopic ultrasound-guided fine needle aspiration: a powerful modality in the diagnosis of aggressive systemic mastocytosis. ( 20497208 )
2011
11
Imatinib mesylate for aggressive systemic mastocytosis with long bone osteolysis. ( 21679828 )
2011
12
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
13
Aggressive systemic mastocytosis with Charcot-Leyden crystals-associated crystal storing histiocytosis in bone marrow. ( 20025488 )
2010
14
Treatment of aggressive systemic mastocytosis with daclizumab. ( 20038223 )
2010
15
Imatinib mesylate responsiveness in aggressive systemic mastocytosis: novel association with a platelet derived growth factor receptor beta mutation. ( 17133421 )
2007
16
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. ( 17259998 )
2007
17
Aggressive systemic mastocytosis with sarcoma-like growth in the skeleton, leukemic progression, and partial loss of mast cell differentiation antigens. ( 18055976 )
2007
18
Aggressive systemic mastocytosis presenting with hepatic cholestasis. ( 17873616 )
2007
19
Aggressive systemic mastocytosis complicated by protein-losing enteropathy. ( 16843741 )
2007
20
Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. ( 17551405 )
2007
21
Establishment of a murine model of aggressive systemic mastocytosis/mast cell leukemia. ( 16543062 )
2006
22
Aggressive systemic mastocytosis: a case report and brief review of the literature. ( 15794480 )
2005
23
Aggressive systemic mastocytosis: is there a role for trisomy 8? ( 15725484 )
2005
24
[A case of aggressive systemic mastocytosis]. ( 15088425 )
2004
25
Aggressive systemic mastocytosis mimicking sclerosing cholangitis. ( 15377487 )
2004
26
Inefficacy of imatinib-mesylate in sporadic, aggressive systemic mastocytosis. ( 15109544 )
2004
27
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. ( 14687620 )
2004
28
Aggressive systemic mastocytosis. ( 12639621 )
2003
29
Response to cyclosporin and low-dose methylprednisolone in aggressive systemic mastocytosis. ( 10329843 )
1999
30
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

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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.65 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 9.51 IFNA2 KIT
4 positive regulation of MAP kinase activity GO:0043406 9.49 KIT KITLG
5 glycosphingolipid metabolic process GO:0006687 9.46 KIT SMPD1
6 ovarian follicle development GO:0001541 9.43 KIT KITLG
7 regulation of type I interferon-mediated signaling pathway GO:0060338 9.4 IFNA2 PTPN11
8 phosphatidylinositol phosphorylation GO:0046854 9.33 KIT KITLG PTPN11
9 embryonic hemopoiesis GO:0035162 9.32 KIT KITLG
10 megakaryocyte development GO:0035855 9.26 KIT PTPN11
11 spermatid development GO:0007286 9.13 KIT MEI1 TNP1
12 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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