MCID: AGG002
MIFTS: 47

Aggressive Systemic Mastocytosis

Categories: Immune diseases, Blood diseases, Rare diseases

Aliases & Classifications for Aggressive Systemic Mastocytosis

MalaCards integrated aliases for Aggressive Systemic Mastocytosis:

Name: Aggressive Systemic Mastocytosis 12 55 14 69
Lymphadenopathic Mastocytosis with Eosinophilia 12
Asm 12

Characteristics:

Orphanet epidemiological data:

55
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, and has symptoms including xerostomia, anxiety and osteoporosis. 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 Staurosporine and 4'-N-benzoylstaurosporine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotype is reproductive system.

Related Diseases for Aggressive Systemic Mastocytosis

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 32.3 IFNA2 KIT KITLG
2 mast-cell leukemia 30.2 KIT KITLG
3 niemann-pick disease 11.3
4 sarcomatoid renal cell carcinoma 10.3 IFNA2 KIT
5 indolent systemic mastocytosis 10.3 KIT KITLG
6 cutaneous mastocytosis 10.3 KIT KITLG
7 urticaria pigmentosa 10.3 KIT KITLG
8 malignant skin fibrous histiocytoma 10.3 IFNA2 KIT
9 cutaneous solitary mastocytoma 10.3 KIT KITLG
10 malignant dermis tumor 10.3 IFNA2 KIT
11 ewing's family of tumors 10.2 KIT KITLG
12 dowling-degos disease 1 10.2 KIT KITLG
13 mast cell neoplasm 10.2 KIT KITLG
14 lentigines 10.2 KIT PTPN11
15 piebald trait 10.1 KIT KITLG
16 neurofibroma 10.1 KIT KITLG
17 leukocyte disease 10.1 KIT KITLG
18 testicular germ cell tumor 10.0 KIT KITLG
19 mast cell disease 10.0 IFNA2 KIT KITLG
20 leukemia, chronic myeloid 10.0 IFNA2 KIT KITLG
21 melanoma, cutaneous malignant 1 10.0 IFNA2 KIT
22 bone marrow cancer 10.0 KIT KITLG PTPN11
23 hematologic cancer 10.0 KIT KITLG PTPN11
24 hepatitis 9.9
25 leukemia 9.9
26 leukemia, acute myeloid 9.9 KIT KITLG PTPN11
27 hemihyperplasia, isolated 9.9 H19 SMPD1
28 myelodysplastic syndrome 9.8 KIT KITLG PTPN11
29 glomerulonephritis 9.8
30 lymphoma 9.8
31 protein-losing enteropathy 9.8
32 sarcoma 9.8
33 cholestasis 9.8
34 sclerosing cholangitis 9.8
35 histiocytosis 9.8
36 cholangitis 9.8
37 germ cells tumors 9.8
38 severe congenital neutropenia 9.7 KITLG 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:

55 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 xerostomia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000217
2 anxiety 55 31 frequent (33%) Frequent (79-30%) HP:0000739
3 osteoporosis 55 31 frequent (33%) Frequent (79-30%) HP:0000939
4 hyperhidrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000975
5 pruritus 55 31 frequent (33%) Frequent (79-30%) HP:0000989
6 cirrhosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001394
7 cardiac arrest 55 31 frequent (33%) Frequent (79-30%) HP:0001695
8 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
9 weight loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0001824
10 pancytopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001876
11 eosinophilia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001880
12 leukopenia 55 31 frequent (33%) Frequent (79-30%) HP:0001882
13 anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001903
14 nausea and vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002017
15 malabsorption 55 31 frequent (33%) Frequent (79-30%) HP:0002024
16 abdominal pain 55 31 frequent (33%) Frequent (79-30%) HP:0002027
17 chronic diarrhea 55 31 frequent (33%) Frequent (79-30%) HP:0002028
18 anorexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002039
19 dyspnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002094
20 asthma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002099
21 pulmonary infiltrates 55 31 occasional (7.5%) Occasional (29-5%) HP:0002113
22 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
23 acute leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002488
24 hypotension 55 31 frequent (33%) Frequent (79-30%) HP:0002615
25 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
26 lymphoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002665
27 lymphadenopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002716
28 recurrent fractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002757
29 arthralgia 55 31 frequent (33%) Frequent (79-30%) HP:0002829
30 myeloproliferative disorder 55 31 occasional (7.5%) Occasional (29-5%) HP:0005547
31 chronic leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0005558
32 increased bone mineral density 55 31 occasional (7.5%) Occasional (29-5%) HP:0011001
33 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
34 sarcoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0100242
35 mastocytosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100495
36 anaphylactic shock 55 31 frequent (33%) Frequent (79-30%) HP:0100845
37 depression 55 Frequent (79-30%)
38 diarrhea 55 Frequent (79-30%)
39 abnormality of bone marrow cell morphology 55 Very frequent (99-80%)
40 arrhythmia 55 Frequent (79-30%)
41 depressivity 31 frequent (33%) HP:0000716

MGI Mouse Phenotypes related to Aggressive Systemic Mastocytosis:

43
# 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 Protein Kinase Inhibitors Phase 2
4 Specific substance maruyama Phase 2
5 Antibodies Phase 2
6 Antibodies, Monoclonal Phase 2
7 Immunoglobulins Phase 2
8 Angiogenesis Inhibitors Phase 2
9 Angiogenesis Modulating Agents Phase 2
10 Anti-Bacterial Agents Phase 2
11 Anti-Infective Agents Phase 2
12 Immunosuppressive Agents Phase 2
13 Imatinib Mesylate Phase 2 123596
14 tyrosine Nutraceutical Phase 2

Interventional clinical trials:

(show all 11)

# Name Status NCT ID Phase Drugs
1 Midostaurin in Indolent Systemic Mastocytosis Unknown status NCT01920204 Phase 2 Midostaurin,
2 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia Completed NCT01807598 Phase 2 brentuximab vedotin
3 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2 thalidomide
4 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
5 Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia Active, not recruiting NCT00782067 Phase 2 Midostaurin (PKC412)
6 Phase II Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia Active, not recruiting NCT00233454 Phase 2 Midostaurin
7 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
8 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618
9 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (advSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1 Avapritinib
10 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
11 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:

38
Bone, Bone Marrow, Myeloid, Ovary

Publications for Aggressive Systemic Mastocytosis

Articles related to Aggressive Systemic Mastocytosis:

(show all 29)
# Title Authors Year
1
In utero presentation of aggressive systemic mastocytosis in a neonate. ( 28369700 )
2017
2
Neonatal aggressive systemic mastocytosis. ( 29192973 )
2017
3
Oncogenic KIT-induced aggressive systemic mastocytosis requires SHP2/PTPN11 phosphatase for disease progression in mice. ( 25026279 )
2014
4
Aggressive Systemic Mastocytosis mimicking lymphoma: Description of an unusual presentation and review of the literature on current management strategies. ( 24707942 )
2014
5
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. ( 24989799 )
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
Endoscopic ultrasound-guided fine needle aspiration: a powerful modality in the diagnosis of aggressive systemic mastocytosis. ( 20497208 )
2011
10
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
11
Imatinib mesylate for aggressive systemic mastocytosis with long bone osteolysis. ( 21679828 )
2011
12
Aggressive systemic mastocytosis associated with mesangioproliferative glomerulonephritis. ( 21196717 )
2011
13
Treatment of aggressive systemic mastocytosis with daclizumab. ( 20038223 )
2010
14
Aggressive systemic mastocytosis with Charcot-Leyden crystals-associated crystal storing histiocytosis in bone marrow. ( 20025488 )
2010
15
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. ( 17259998 )
2007
16
Aggressive systemic mastocytosis presenting with hepatic cholestasis. ( 17873616 )
2007
17
Aggressive systemic mastocytosis complicated by protein-losing enteropathy. ( 16843741 )
2007
18
Imatinib mesylate responsiveness in aggressive systemic mastocytosis: novel association with a platelet derived growth factor receptor beta mutation. ( 17133421 )
2007
19
Aggressive systemic mastocytosis with sarcoma-like growth in the skeleton, leukemic progression, and partial loss of mast cell differentiation antigens. ( 18055976 )
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
Aggressive systemic mastocytosis mimicking sclerosing cholangitis. ( 15377487 )
2004
25
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. ( 14687620 )
2004
26
Inefficacy of imatinib-mesylate in sporadic, aggressive systemic mastocytosis. ( 15109544 )
2004
27
Aggressive systemic mastocytosis. ( 12639621 )
2003
28
Response to cyclosporin and low-dose methylprednisolone in aggressive systemic mastocytosis. ( 10329843 )
1999
29
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 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.54 KIT KITLG PTPN11
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.49 IFNA2 KIT
3 positive regulation of MAP kinase activity GO:0043406 9.48 KIT KITLG
4 glycosphingolipid metabolic process GO:0006687 9.46 KIT SMPD1
5 ovarian follicle development GO:0001541 9.43 KIT KITLG
6 regulation of type I interferon-mediated signaling pathway GO:0060338 9.4 IFNA2 PTPN11
7 phosphatidylinositol phosphorylation GO:0046854 9.33 KIT KITLG PTPN11
8 megakaryocyte development GO:0035855 9.32 KIT PTPN11
9 embryonic hemopoiesis GO:0035162 9.26 KIT KITLG
10 ectopic germ cell programmed cell death GO:0035234 8.96 KIT KITLG
11 spermatid development GO:0007286 8.8 KIT MEI1 TNP1

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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