MCID: AGG002
MIFTS: 45

Aggressive Systemic Mastocytosis malady

Blood diseases, Cancer diseases, Rare diseases, Immune diseases categories

Aliases & Classifications for Aggressive Systemic Mastocytosis

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Sources:
9Disease Ontology, 47Orphanet, 60UMLS, 33MeSH, 38NCIt, 55SNOMED-CT, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Aggressive Systemic Mastocytosis, Aliases & Descriptions:

Name: Aggressive Systemic Mastocytosis 9 47 60
Lymphadenopathic Mastocytosis with Eosinophilia 9
 
Asm 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Rare diseases
Anatomical: Blood diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

47
aggressive systemic mastocytosis:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult


External Ids:

Disease Ontology9 DOID:4798
MeSH33 D034721
NCIt38 C9285
Orphanet47 98850
ICD10 via Orphanet26 C96.2
UMLS via Orphanet61 C1112486

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, and has symptoms including hyperhidrosis, urticaria and hypermelanotic macule. An important gene associated with Aggressive Systemic Mastocytosis is KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), and among its related pathways are Hematopoietic cell lineage and Tyrosine Kinases / Adaptors. The compounds monochloroacetic acid and toluidine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related mouse phenotypes are liver/biliary system and tumorigenesis.

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 58)
idRelated DiseaseScoreTop Affiliating Genes
1systemic mastocytosis31.5KITLG, KIT
2mastocytosis31.1KITLG, KIT, IFNA2
3leukemia29.8KITLG, STAT5A, IFNA2, KIT
4myeloma29.6KITLG, STAT5A, TNFRSF8, IFNA2
5hepatitis10.3
6mast-cell leukemia10.3
7myelofibrosis10.3IFNA2
8renal cell carcinoma10.3IFNA2
9glomerulonephritis10.2
10protein-losing enteropathy10.2
11sclerosing cholangitis10.2
12cholangitis10.2
13cholestasis10.2
14eosinophilia10.2
15histiocytosis10.2
16sarcoma10.2
17sarcoma, synovial10.2KIT, TNFRSF8
18factor vii deficiency10.1KIT, IFNA2
19urticaria pigmentosa10.1KIT, KITLG
20piebaldism10.1KIT, KITLG
21mycosis fungoides10.1IFNA2, TNFRSF8
22skin disease10.1
23skin atrophy10.1
24blindness10.1
25kaposi sarcoma10.1TNFRSF8, IFNA2
26dysgerminoma10.1KITLG, KIT
27mast cell neoplasm10.1KIT, KITLG
28refractory anemia10.1KIT, KITLG
29neurofibroma10.1KITLG, KIT
30precursor b-cell acute lymphoblastic leukemia10.0KITLG, KIT
31neurofibromatosis10.0KIT, KITLG
32polycythemia10.0KITLG, STAT5A
33gastrointestinal stromal tumor10.0KITLG, KIT
34t-cell leukemia10.0STAT5A, TNFRSF8
35severe combined immunodeficiency10.0TNFRSF8, KITLG
36thrombocytosis9.9KITLG, IFNA2
37cutaneous t cell lymphoma9.9TNFRSF8, IFNA2, STAT5A
38neutropenia9.9IFNA2, KITLG
39b-cell lymphomas9.9STAT5A, TNFRSF8
40atopic dermatitis9.9KITLG, TNFRSF8
41chronic myelomonocytic leukemia9.9KITLG, KIT, STAT5A
42thrombocytopenia9.9KITLG, IFNA2
43seminoma9.9KIT, KITLG, TNFRSF8
44ewing sarcoma9.9TNFRSF8, KITLG, KIT
45embryonal cancer9.9KITLG, KIT, TNFRSF8
46myelodysplastic syndrome9.8KITLG, KIT, STAT5A
47acute leukemia9.8KIT, STAT5A, KITLG
48myeloid leukemia9.8KIT, KITLG, STAT5A
49acute erythroid leukemia9.8KITLG, STAT5A
50viral infectious disease9.7KITLG, IFNA2, TNFRSF8

Graphical network of the top 20 diseases related to Aggressive Systemic Mastocytosis:



Diseases related to aggressive systemic mastocytosis

Symptoms for Aggressive Systemic Mastocytosis

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Symptoms:

 47 (show all 46)
  • hyperhidrosis/increased sweating
  • urticaria
  • macules
  • follicular/erythematous/edematous papules/milium
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • bone pain
  • severe allergic reaction/atopy
  • bone marrow anomalies
  • eosinophils anomalies/hypereosinophilia
  • mastocytosis
  • asthenia/fatigue/weakness
  • hot flushes/sensation of cold
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • pruritus/itching
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • malabsorption/chronic diarrhea/steatorrhea
  • acute diarrhea
  • cardiac rhythm disorder/arrhythmia
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • hypotension
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • bone tumefaction/swelling
  • articular/joint pain/arthralgia
  • anaemia
  • leukopenia/hypoleukocytosis
  • mouth dryness/xerostomia
  • telangiectasiae of the skin
  • lung/pulmonary infiltrates
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • asthma/bronchospasm
  • lymphadenopathy/polyadenopathies
  • anorexia
  • osteosclerosis/osteopetrosis/bone condensation
  • mutiple fractures/bone fragility
  • bone marrow failure/pancytopenia
  • sarcoma
  • lymphoma
  • acute leukemia
  • myeloproliferative syndrome/chronic leukemia
  • weight loss/loss of appetite/break in weight curve/general health alteration

HPO human phenotypes related to Aggressive Systemic Mastocytosis:

(show all 36)
id Description Frequency HPO Source Accession
1 hyperhidrosis hallmark (90%) HP:0000975
2 urticaria hallmark (90%) HP:0001025
3 hypermelanotic macule hallmark (90%) HP:0001034
4 splenomegaly hallmark (90%) HP:0001744
5 abnormality of eosinophils hallmark (90%) HP:0001879
6 nausea and vomiting hallmark (90%) HP:0002017
7 abdominal pain hallmark (90%) HP:0002027
8 hepatomegaly hallmark (90%) HP:0002240
9 bone pain hallmark (90%) HP:0002653
10 impaired temperature sensation hallmark (90%) HP:0010829
11 mastocytosis hallmark (90%) HP:0100495
12 behavioral abnormality typical (50%) HP:0000708
13 pruritus typical (50%) HP:0000989
14 sudden cardiac death typical (50%) HP:0001645
15 leukopenia typical (50%) HP:0001882
16 anemia typical (50%) HP:0001903
17 diarrhea typical (50%) HP:0002014
18 malabsorption typical (50%) HP:0002024
19 hypotension typical (50%) HP:0002615
20 arthralgia typical (50%) HP:0002829
21 abnormality of the gastric mucosa typical (50%) HP:0004295
22 reduced bone mineral density typical (50%) HP:0004349
23 xerostomia occasional (7.5%) HP:0000217
24 weight loss occasional (7.5%) HP:0001824
25 anorexia occasional (7.5%) HP:0002039
26 respiratory insufficiency occasional (7.5%) HP:0002093
27 asthma occasional (7.5%) HP:0002099
28 pulmonary infiltrates occasional (7.5%) HP:0002113
29 acute leukemia occasional (7.5%) HP:0002488
30 lymphoma occasional (7.5%) HP:0002665
31 lymphadenopathy occasional (7.5%) HP:0002716
32 recurrent fractures occasional (7.5%) HP:0002757
33 bone marrow hypocellularity occasional (7.5%) HP:0005528
34 increased bone mineral density occasional (7.5%) HP:0011001
35 sarcoma occasional (7.5%) HP:0100242
36 teleangiectasia of the skin occasional (7.5%) HP:0100585

Drugs & Therapeutics for Aggressive Systemic Mastocytosis

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Drug clinical trials:

Search ClinicalTrials for Aggressive Systemic Mastocytosis

Search NIH Clinical Center for Aggressive Systemic Mastocytosis

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:

31
Bone, Skin, Bone marrow, Lung, Liver, Ovary

Animal Models for Aggressive Systemic Mastocytosis or affiliated genes

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MGI Mouse Phenotypes related to Aggressive Systemic Mastocytosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6KITLG, KIT, STAT5A
2MP:00020068.5STAT5A, KIT, KITLG
3MP:00053978.1TNFRSF8, KITLG, KIT, STAT5A
4MP:00053877.8KITLG, TNFRSF8, STAT5A, KIT

Publications for Aggressive Systemic Mastocytosis

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Articles related to Aggressive Systemic Mastocytosis:

(show all 26)
idTitleAuthorsYear
1
An unusual case of aggressive systemic mastocytosis mimicking hepatic cirrhosis. (25009756)
2014
2
Aggressive Systemic Mastocytosis mimicking lymphoma: Description of an unusual presentation and review of the literature on current management strategies. (24707942)
2014
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
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
Treatment of aggressive systemic mastocytosis with daclizumab. (20038223)
2010
12
Aggressive systemic mastocytosis with Charcot-Leyden crystals-associated crystal storing histiocytosis in bone marrow. (20025488)
2010
13
Imatinib mesylate responsiveness in aggressive systemic mastocytosis: novel association with a platelet derived growth factor receptor beta mutation. (17133421)
2007
14
Aggressive systemic mastocytosis complicated by protein-losing enteropathy. (16843741)
2007
15
Aggressive systemic mastocytosis with sarcoma-like growth in the skeleton, leukemic progression, and partial loss of mast cell differentiation antigens. (18055976)
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 presenting with hepatic cholestasis. (17873616)
2007
18
Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. (17551405)
2007
19
Establishment of a murine model of aggressive systemic mastocytosis/mast cell leukemia. (16543062)
2006
20
Aggressive systemic mastocytosis: is there a role for trisomy 8? (15725484)
2005
21
Aggressive systemic mastocytosis: a case report and brief review of the literature. (15794480)
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

Variations for Aggressive Systemic Mastocytosis

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Expression for genes affiliated with Aggressive Systemic Mastocytosis

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Search GEO for disease gene expression data for Aggressive Systemic Mastocytosis.

Pathways for genes affiliated with Aggressive Systemic Mastocytosis

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Pathways related to Aggressive Systemic Mastocytosis according to GeneCards Suite gene sharing:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4KITLG, KIT
29.4KIT, KITLG
3
Show member pathways
9.4KITLG, KIT
49.4KITLG, KIT
59.4KIT, KITLG
69.4KIT, KITLG
7
Show member pathways
Signal transduction PTEN pathway58
9.2STAT5A, KIT
8
Show member pathways
Type III interferon signaling36
9.1IFNA2, STAT5A
98.9IFNA2, KITLG, KIT
10
Show member pathways
8.9TNFRSF8, KITLG, KIT
11
Show member pathways
8.6STAT5A, KIT, KITLG
12
Show member pathways
8.6KITLG, STAT5A, KIT
13
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
8.6KITLG, KIT, STAT5A
148.6KIT, KITLG, STAT5A
15
Show member pathways
8.6KITLG, KIT, STAT5A
168.6KIT, KITLG, STAT5A
17
Show member pathways
8.1KIT, IFNA2, STAT5A, KITLG
18
Show member pathways
8.1TNFRSF8, STAT5A, KIT, KITLG
19
Show member pathways
8.1KITLG, STAT5A, TNFRSF8, KIT
20
Show member pathways
7.5KITLG, STAT5A, IFNA2, KIT, TNFRSF8

Compounds for genes affiliated with Aggressive Systemic Mastocytosis

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Compounds related to Aggressive Systemic Mastocytosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid439.8KIT, KITLG
2toluidine439.8KITLG, KIT
3rhodamine 12343 4910.8KIT, KITLG
4filgrastim43 1210.7IFNA2, KITLG
5methylcellulose439.7KIT, KITLG
6pkc 412439.6KIT, STAT5A
7zidovudine43 49 1211.6IFNA2, KITLG
8carboplatin43 49 1211.6IFNA2, KITLG
9dasatinib43 49 1211.5STAT5A, KIT
10polyethylene glycol439.5KITLG, IFNA2
11ifn-alpha439.4IFNA2, STAT5A
12gm-csf43 2810.4STAT5A, KITLG
13prednisolone43 28 1211.3KITLG, IFNA2
14hydroxyurea43 49 1211.3KIT, IFNA2, KITLG
15gold439.3KIT, IFNA2, KITLG
16agarose439.3KITLG, KIT, IFNA2
175fluorouracil439.3KITLG, IFNA2, KIT
18ribonucleic acid439.3KITLG, IFNA2, KIT
19histamine43 28 2411.2KIT, IFNA2, KITLG
20nucleoside439.2IFNA2, KITLG
21doxorubicin43 49 1211.2KITLG, IFNA2, KIT
22paraffin439.2TNFRSF8, KITLG, KIT
23vincristine43 49 1211.2KIT, IFNA2
24ag-1296439.0KITLG, KIT, STAT5A
25su5416439.0STAT5A, KIT, KITLG
26gp 130439.0KIT, KITLG, STAT5A
27imatinib43 49 1211.0KITLG, KIT, STAT5A
28aspartate439.0STAT5A, KIT, IFNA2
29progesterone43 28 59 24 1212.9KIT, IFNA2, STAT5A
30rapamycin438.9KITLG, KIT, STAT5A
31pd 98,059438.9KIT, STAT5A, KITLG
32agar438.9STAT5A, KITLG, IFNA2
33cycloheximide438.9KITLG, KIT, STAT5A
34cyclosporin a43 28 5910.8TNFRSF8, KITLG, STAT5A
35zinc43 249.8TNFRSF8, STAT5A, IFNA2
36phosphatidylinositol438.8KITLG, KIT, STAT5A
37threonine438.7KIT, STAT5A, TNFRSF8
38nitric oxide43 24 1210.7STAT5A, KITLG, KIT
39alanine438.5KITLG, IFNA2, STAT5A
40cytarabine43 49 1210.5KITLG, KIT, IFNA2, STAT5A
41steroid438.5STAT5A, KITLG, KIT, IFNA2
42vegf438.5KITLG, KIT, IFNA2, STAT5A
43estrogen438.5IFNA2, STAT5A, KIT, KITLG
44retinoic acid43 249.5STAT5A, KIT, IFNA2, KITLG
45glucose438.4STAT5A, KITLG, IFNA2, KIT
46serine438.4KITLG, KIT, STAT5A, TNFRSF8
47lipid438.4IFNA2, TNFRSF8, STAT5A, KITLG
48calcium43 49 24 1211.3TNFRSF8, KITLG, STAT5A, KIT
49thymidine43 249.0TNFRSF8, KITLG, STAT5A, IFNA2, KIT
50tyrosine438.0TNFRSF8, KITLG, KIT, IFNA2, STAT5A

GO Terms for genes affiliated with Aggressive Systemic Mastocytosis

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Cellular components related to Aggressive Systemic Mastocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.9KITLG, KIT, IFNA2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.7KIT, IFNA2
2ectopic germ cell programmed cell deathGO:00352349.6KITLG, KIT
3embryonic hemopoiesisGO:00351629.6KIT, KITLG
4male gonad developmentGO:00085849.5KIT, KITLG
5phosphatidylinositol-mediated signalingGO:00480159.5KITLG, KIT
6epidermal growth factor receptor signaling pathwayGO:00071739.4KITLG, KIT
7peptidyl-tyrosine phosphorylationGO:00181089.3KIT, STAT5A
8negative regulation of mast cell apoptotic processGO:00330269.3KITLG, STAT5A
9fibroblast growth factor receptor signaling pathwayGO:00085439.3KITLG, KIT
10positive regulation of mast cell proliferationGO:00706689.3KITLG, STAT5A
11Fc-epsilon receptor signaling pathwayGO:00380959.1KITLG, KIT
12innate immune responseGO:00450879.1KITLG, KIT, IFNA2
13signal transductionGO:00071658.9TNFRSF8, KIT, KITLG

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051259.3KITLG, IFNA2

Products for genes affiliated with Aggressive Systemic Mastocytosis

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Sources for Aggressive Systemic Mastocytosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet