ASM
MCID: AGG002
MIFTS: 42

Aggressive Systemic Mastocytosis (ASM) malady

Categories: Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Aggressive Systemic Mastocytosis

Aliases & Descriptions for Aggressive Systemic Mastocytosis:

Name: Aggressive Systemic Mastocytosis 12 56 14 69
Lymphadenopathic Mastocytosis with Eosinophilia 12
Asm 12

Characteristics:

Orphanet epidemiological data:

56
aggressive systemic mastocytosis
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:4798
ICD10 33 C96.2
MeSH 42 D034721
NCIt 47 C9285
SNOMED-CT 64 397008008 397358005
Orphanet 56 ORPHA98850
UMLS via Orphanet 70 C1112486
ICD10 via Orphanet 34 C96.2
UMLS 69 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, and has symptoms including pruritus, arthralgia and fatigue. 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 PI3K-Akt 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 ovary, 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 39)
id Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 11.4
2 mastocytosis 10.4
3 malignant epithelial mesothelioma 10.2 IFNA2 KIT
4 intracranial sinus thrombosis 10.2 KIT KITLG
5 uremic neuropathy 10.2 KIT KITLG
6 olfactory nerve disease 10.2 KIT KITLG
7 high grade b-cell lymphoma with rearrangements of myc and bcl2 and/or bcl6 10.2 KIT KITLG
8 cough variant asthma 10.2 KIT KITLG
9 kidney rhabdoid cancer 10.2 KIT KITLG
10 congenital disorder of glycosylation, type iq 10.2 IFNA2 KIT
11 priapism 10.2 KIT KITLG
12 extranodal nasal nk/t cell lymphoma 10.1 KIT KITLG
13 epidermolysis bullosa simplex, recessive 1 10.1 KIT KITLG
14 vaginal yolk sac tumor 10.1 IFNA2 KIT
15 syndromic x-linked intellectual disability 10.1 KIT KITLG
16 dentinogenesis imperfecta, shields type ii 10.1 KIT KITLG
17 may-thurner syndrome 10.1 IFNA2 KIT KITLG
18 temporomandibular ankylosis 10.1 IFNA2 KIT KITLG
19 erythrocytosis, somatic 10.1 IFNA2 KIT KITLG
20 peroxisome biogenesis disorder 7a 10.1 IFNA2 KIT KITLG
21 retroperitoneal leiomyosarcoma 10.0 IFNA2 KIT
22 actinobacillosis 10.0 KIT KITLG PTPN11
23 hemorrhagic fever 10.0 H19 SMPD1
24 hemophagocytic lymphohistiocytosis 10.0 KIT KITLG PTPN11
25 prostate adenocarcinoma 10.0 IFNA2 TNP1
26 pericoronitis 9.9 KIT KITLG
27 leukemia, acute myeloid 9.9 KIT KITLG PTPN11
28 hepatitis 9.8
29 leukemia 9.8
30 mast-cell leukemia 9.8
31 glomerulonephritis 9.7
32 lymphoma 9.7
33 protein-losing enteropathy 9.7
34 sarcoma 9.7
35 cholestasis 9.7
36 sclerosing cholangitis 9.7
37 histiocytosis 9.7
38 cholangitis 9.7
39 hemangioma of peripheral nerve 8.9 H19 IFNA2 KIT KITLG PTPN11 SMPD1

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:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Frequent (79-30%) HP:0000989
2 arthralgia 56 32 Frequent (79-30%) HP:0002829
3 fatigue 56 32 Very frequent (99-80%) HP:0012378
4 dyspnea 56 32 Occasional (29-5%) HP:0002094
5 abdominal pain 56 32 Frequent (79-30%) HP:0002027
6 nausea and vomiting 56 32 Very frequent (99-80%) HP:0002017
7 bone pain 56 32 Very frequent (99-80%) HP:0002653
8 depression 56 32 Frequent (79-30%) HP:0000716
9 hyperhidrosis 56 32 Very frequent (99-80%) HP:0000975
10 hypotension 56 32 Frequent (79-30%) HP:0002615
11 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
12 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
13 malabsorption 56 32 Frequent (79-30%) HP:0002024
14 osteoporosis 56 32 Frequent (79-30%) HP:0000939
15 anemia 56 32 Frequent (79-30%) HP:0001903
16 pancytopenia 56 32 Occasional (29-5%) HP:0001876
17 weight loss 56 32 Occasional (29-5%) HP:0001824
18 anxiety 56 32 Frequent (79-30%) HP:0000739
19 cirrhosis 56 32 Occasional (29-5%) HP:0001394
20 anorexia 56 32 Occasional (29-5%) HP:0002039
21 xerostomia 56 32 Occasional (29-5%) HP:0000217
22 sarcoma 56 32 Occasional (29-5%) HP:0100242
23 asthma 56 32 Occasional (29-5%) HP:0002099
24 recurrent fractures 56 32 Occasional (29-5%) HP:0002757
25 chronic diarrhea 56 32 Frequent (79-30%) HP:0002028
26 acute leukemia 56 32 Occasional (29-5%) HP:0002488
27 lymphoma 56 32 Occasional (29-5%) HP:0002665
28 chronic leukemia 56 32 Occasional (29-5%) HP:0005558
29 increased bone mineral density 56 32 Occasional (29-5%) HP:0011001
30 lymphadenopathy 56 32 Occasional (29-5%) HP:0002716
31 eosinophilia 56 32 Very frequent (99-80%) HP:0001880
32 cardiac arrest 56 32 Frequent (79-30%) HP:0001695
33 mastocytosis 56 32 Very frequent (99-80%) HP:0100495
34 leukopenia 56 32 Frequent (79-30%) HP:0001882
35 pulmonary infiltrates 56 32 Occasional (29-5%) HP:0002113
36 myeloproliferative disorder 56 32 Occasional (29-5%) HP:0005547
37 anaphylactic shock 56 32 Frequent (79-30%) HP:0100845
38 diarrhea 56 Frequent (79-30%)
39 arrhythmia 56 Frequent (79-30%)
40 abnormality of bone marrow cell morphology 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Aggressive Systemic Mastocytosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.02 UBE2B KIT KITLG PTPN11 SMPD1

Drugs & Therapeutics for Aggressive Systemic Mastocytosis

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

(show all 30)
id 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 Imatinib Mesylate Phase 2 123596
6 Angiogenesis Inhibitors Phase 2,Phase 1
7 Angiogenesis Modulating Agents Phase 2,Phase 1
8 Anti-Bacterial Agents Phase 2
9 Anti-Infective Agents Phase 2
10 Immunosuppressive Agents Phase 2
11 tyrosine Nutraceutical Phase 2
12
Sunitinib Approved, Investigational Phase 1 341031-54-7, 557795-19-4 5329102
13
Cyclosporine Approved, Investigational, Vet_approved 79217-60-0, 59865-13-3 5284373 6435893
14
Fludarabine Approved 21679-14-1, 75607-67-9 30751
15
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
16
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
17
Mycophenolic acid Approved 24280-93-1 446541
18
Vidarabine Approved 24356-66-9 32326 21704
19 Antibiotics, Antitubercular
20 Antifungal Agents
21 Antimetabolites
22 Antimetabolites, Antineoplastic
23 Antirheumatic Agents
24 Calcineurin Inhibitors
25 Dermatologic Agents
26 Vidarabine Phosphate
27 Antibodies
28 Antibodies, Monoclonal
29 Immunoglobulins
30 Antiviral Agents

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 Midostaurin in Indolent Systemic Mastocytosis Unknown status NCT01920204 Phase 2
2 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Unknown status NCT00555581 Phase 2
3 Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis Completed NCT00769587 Phase 2
4 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis Recruiting NCT02415608 Phase 2
5 Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia Active, not recruiting NCT00782067 Phase 2
6 Phase II Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia Active, not recruiting NCT00233454 Phase 2
7 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1
8 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1
9 A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1
10 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (advSM) and Relapsed or Refractory Myeloid Malignancies Recruiting NCT02561988 Phase 1
11 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
12 Fludarabine and Total-Body Irradiation Followed By Donor Stem Cell Transplant and Cyclosporine and Mycophenolate Mofetil in Treating HIV-Positive Patients With or Without Cancer Completed NCT00112593
13 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia Recruiting NCT01807598
14 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254
15 Fludarabine Phosphate and Total-Body Radiation Followed by Donor Peripheral Blood Stem Cell Transplant and Immunosuppression in Treating Patients With Hematologic Malignancies Active, not recruiting NCT00014235

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:

39
Bone, Bone Marrow, Ovary

Publications for Aggressive Systemic Mastocytosis

Articles related to Aggressive Systemic Mastocytosis:

(show all 27)
id Title Authors Year
1
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. ( 24989799 )
2014
2
Oncogenic KIT-induced aggressive systemic mastocytosis requires SHP2/PTPN11 phosphatase for disease progression in mice. ( 25026279 )
2014
3
An unusual case of aggressive systemic mastocytosis mimicking hepatic cirrhosis. ( 25009756 )
2014
4
Aggressive Systemic Mastocytosis mimicking lymphoma: Description of an unusual presentation and review of the literature on current management strategies. ( 24707942 )
2014
5
Eosinophilia and bone lesion as clinical manifestations of aggressive systemic mastocytosis. ( 24369222 )
2013
6
An unusual case of aggressive systemic mastocytosis with associated refractory plasma cell myeloma. ( 23009979 )
2012
7
Aggressive systemic mastocytosis associated with mesangioproliferative glomerulonephritis. ( 21196717 )
2011
8
Imatinib mesylate for aggressive systemic mastocytosis with long bone osteolysis. ( 21679828 )
2011
9
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
10
Endoscopic ultrasound-guided fine needle aspiration: a powerful modality in the diagnosis of aggressive systemic mastocytosis. ( 20497208 )
2011
11
Aggressive systemic mastocytosis with Charcot-Leyden crystals-associated crystal storing histiocytosis in bone marrow. ( 20025488 )
2010
12
Treatment of aggressive systemic mastocytosis with daclizumab. ( 20038223 )
2010
13
Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. ( 17551405 )
2007
14
Aggressive systemic mastocytosis with sarcoma-like growth in the skeleton, leukemic progression, and partial loss of mast cell differentiation antigens. ( 18055976 )
2007
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 complicated by protein-losing enteropathy. ( 16843741 )
2007
18
Aggressive systemic mastocytosis presenting with hepatic cholestasis. ( 17873616 )
2007
19
Establishment of a murine model of aggressive systemic mastocytosis/mast cell leukemia. ( 16543062 )
2006
20
Aggressive systemic mastocytosis: a case report and brief review of the literature. ( 15794480 )
2005
21
Aggressive systemic mastocytosis: is there a role for trisomy 8? ( 15725484 )
2005
22
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. ( 14687620 )
2004
23
Aggressive systemic mastocytosis mimicking sclerosing cholangitis. ( 15377487 )
2004
24
Inefficacy of imatinib-mesylate in sporadic, aggressive systemic mastocytosis. ( 15109544 )
2004
25
Aggressive systemic mastocytosis. ( 12639621 )
2003
26
Response to cyclosporin and low-dose methylprednisolone in aggressive systemic mastocytosis. ( 10329843 )
1999
27
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)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of MAP kinase activity GO:0043406 9.51 KIT KITLG
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.49 IFNA2 KIT
3 glycosphingolipid metabolic process GO:0006687 9.48 KIT SMPD1
4 ovarian follicle development GO:0001541 9.46 KIT KITLG
5 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.43 IFNA2 KIT
6 phosphatidylinositol-mediated signaling GO:0048015 9.43 KIT KITLG PTPN11
7 regulation of type I interferon-mediated signaling pathway GO:0060338 9.4 IFNA2 PTPN11
8 megakaryocyte development GO:0035855 9.37 KIT PTPN11
9 phosphatidylinositol phosphorylation GO:0046854 9.33 KIT KITLG PTPN11
10 embryonic hemopoiesis GO:0035162 9.32 KIT KITLG
11 ectopic germ cell programmed cell death GO:0035234 8.96 KIT KITLG
12 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 8.8 KIT KITLG PTPN11

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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