ASM
MCID: AGG002
MIFTS: 52

Aggressive Systemic Mastocytosis (ASM) malady

Blood diseases, Cancer diseases, Rare diseases, Immune diseases categories
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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/increased sweating, urticaria and macules. 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.

Aliases & Classifications for Aggressive Systemic Mastocytosis

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Sources:
8Disease Ontology, 48Orphanet, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Aggressive Systemic Mastocytosis, Aliases & Descriptions:

Name: Aggressive Systemic Mastocytosis 8 48 62
Lymphadenopathic Mastocytosis with Eosinophilia 8 62
 
Asm 8


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
aggressive systemic mastocytosis:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood


External Ids:

Disease Ontology8 DOID:4798
MeSH34 D034721
NCIt39 C9285
ICD10 via Orphanet26 C96.2
UMLS via Orphanet63 C1112486

Related Diseases for Aggressive Systemic Mastocytosis

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

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1systemic mastocytosis31.5KITLG, KIT
2mastocytosis31.1IFNA2, KIT, KITLG
3leukemia29.9KITLG, KIT, IFNA2, STAT5A
4myeloma29.6TNFRSF8, STAT5A, IFNA2, KITLG
5myelofibrosis10.3IFNA2
6hepatitis10.3
7mast-cell leukemia10.3
8kidney cancer10.3IFNA2
9glomerulonephritis10.2
10sclerosing cholangitis10.2
11protein-losing enteropathy10.2
12cholangitis10.2
13cholestasis10.2
14eosinophilia10.2
15histiocytosis10.2
16sarcoma10.2
17germ cell tumors10.2
18synovial sarcoma10.2KIT, TNFRSF8
19factor vii deficiency10.1KIT, IFNA2
20urticaria pigmentosa10.1KIT, KITLG
21piebaldism10.1KITLG, KIT
22mycosis fungoides10.1IFNA2, TNFRSF8
23dysgerminoma10.1KIT, KITLG
24mast cell neoplasm10.1KIT, KITLG
25skin disease10.1
26skin atrophy10.1
27blindness10.1
28refractory anemia10.1KIT, KITLG
29kaposi's sarcoma10.1TNFRSF8, IFNA2
30neurofibroma10.1KITLG, KIT
31leukemia, acute lymphoblastic 310.0KITLG, KIT
32neurofibromatosis10.0KIT, KITLG
33polycythemia10.0KITLG, STAT5A
34gastrointestinal stromal tumor10.0KIT, KITLG
35t-cell leukemia10.0STAT5A, TNFRSF8
36severe combined immunodeficiency10.0TNFRSF8, KITLG
37thrombocytosis10.0IFNA2, KITLG
38cutaneous t cell lymphoma9.9IFNA2, STAT5A, TNFRSF8
39neutropenia9.9IFNA2, KITLG
40b-cell lymphomas9.9STAT5A, TNFRSF8
41atopic dermatitis9.9KITLG, TNFRSF8
42pdgfrb-associated chronic eosinophilic leukemia9.9STAT5A, KIT, KITLG
43thrombocytopenia9.9KITLG, IFNA2
44seminoma9.9TNFRSF8, KIT, KITLG
45peripheral primitive neuroectodermal tumor9.9KITLG, KIT, TNFRSF8
46embryonal cancer9.9KITLG, KIT, TNFRSF8
47myelodysplastic syndromes9.9KITLG, KIT, STAT5A
48acute leukemia9.9KITLG, KIT, STAT5A
49myeloid leukemia9.8KITLG, KIT, STAT5A
50acute erythroid leukemia9.8STAT5A, KITLG

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:

48 (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:

32
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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6KITLG, KIT, STAT5A
2MP:00020068.5KITLG, KIT, STAT5A
3MP:00053978.1KITLG, KIT, STAT5A, TNFRSF8
4MP:00053877.8TNFRSF8, STAT5A, KIT, KITLG

Publications for Aggressive Systemic Mastocytosis

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Articles related to Aggressive Systemic Mastocytosis:

(show all 27)
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
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

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Expression for genes affiliated with Aggressive Systemic Mastocytosis

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Expression patterns in normal tissues for genes affiliated with Aggressive Systemic Mastocytosis

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/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4KIT, KITLG
29.4KITLG, KIT
3
Show member pathways
9.4KITLG, KIT
49.4KITLG, KIT
59.4KITLG, KIT
69.4KITLG, KIT
7
Show member pathways
Signal transduction PTEN pathway60
9.2KIT, STAT5A
8
Show member pathways
Type III interferon signaling37
9.1STAT5A, IFNA2
98.9IFNA2, KIT, KITLG
10
Show member pathways
8.9TNFRSF8, KIT, KITLG
11
Show member pathways
8.6STAT5A, KIT, KITLG
12
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
8.6STAT5A, KIT, KITLG
138.6KITLG, KIT, STAT5A
14
Show member pathways
8.6KITLG, KIT, STAT5A
15
Show member pathways
8.6KITLG, KIT, STAT5A
168.6KITLG, KIT, STAT5A
17
Show member pathways
8.1KITLG, KIT, IFNA2, STAT5A
18
Show member pathways
8.1KITLG, KIT, STAT5A, TNFRSF8
19
Show member pathways
8.1TNFRSF8, STAT5A, KIT, KITLG
20
Show member pathways
7.5KITLG, KIT, IFNA2, STAT5A, TNFRSF8

Compounds for genes affiliated with Aggressive Systemic Mastocytosis

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Compounds related to Aggressive Systemic Mastocytosis according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid449.8KITLG, KIT
2toluidine449.8KITLG, KIT
3rhodamine 12344 5010.8KITLG, KIT
4filgrastim44 1110.7KITLG, IFNA2
5methylcellulose449.7KIT, KITLG
6pkc 412449.6KIT, STAT5A
7zidovudine44 50 1111.6IFNA2, KITLG
8carboplatin44 50 1111.6KITLG, IFNA2
9dasatinib44 50 1111.5STAT5A, KIT
10polyethylene glycol449.5KITLG, IFNA2
11ifn-alpha449.4STAT5A, IFNA2
12gm-csf44 2810.4KITLG, STAT5A
13prednisolone44 28 1111.3KITLG, IFNA2
14hydroxyurea44 50 1111.3IFNA2, KIT, KITLG
15gold449.3KITLG, KIT, IFNA2
16agarose449.3IFNA2, KIT, KITLG
175fluorouracil449.3KITLG, KIT, IFNA2
18ribonucleic acid449.3IFNA2, KIT, KITLG
19histamine44 28 2411.2KITLG, KIT, IFNA2
20nucleoside449.2KITLG, IFNA2
21doxorubicin44 50 1111.2KITLG, KIT, IFNA2
22paraffin449.2KITLG, KIT, TNFRSF8
23vincristine44 50 1111.2KIT, IFNA2
24ag-1296449.0STAT5A, KIT, KITLG
25su5416449.0KITLG, KIT, STAT5A
26gp 130449.0KITLG, KIT, STAT5A
27imatinib44 50 1111.0KITLG, KIT, STAT5A
28aspartate449.0KIT, IFNA2, STAT5A
29progesterone44 28 61 24 1112.9KIT, IFNA2, STAT5A
30rapamycin448.9KITLG, KIT, STAT5A
31pd 98,059448.9STAT5A, KIT, KITLG
32agar448.9STAT5A, IFNA2, KITLG
33cycloheximide448.9KITLG, KIT, STAT5A
34cyclosporin a44 28 6110.8KITLG, STAT5A, TNFRSF8
35zinc44 249.8TNFRSF8, STAT5A, IFNA2
36phosphatidylinositol448.8KITLG, KIT, STAT5A
37threonine448.7KIT, STAT5A, TNFRSF8
38nitric oxide44 24 1110.7KITLG, KIT, STAT5A
39alanine448.5STAT5A, IFNA2, KITLG
40cytarabine44 50 1110.5STAT5A, IFNA2, KIT, KITLG
41steroid448.5STAT5A, IFNA2, KIT, KITLG
42vegf448.5STAT5A, IFNA2, KIT, KITLG
43estrogen448.5STAT5A, IFNA2, KIT, KITLG
44retinoic acid44 249.5STAT5A, IFNA2, KIT, KITLG
45glucose448.4KITLG, KIT, IFNA2, STAT5A
46serine448.4TNFRSF8, STAT5A, KIT, KITLG
47lipid448.4TNFRSF8, STAT5A, IFNA2, KITLG
48calcium44 50 24 1111.3KITLG, KIT, STAT5A, TNFRSF8
49thymidine44 249.0KITLG, KIT, IFNA2, STAT5A, TNFRSF8
50tyrosine448.0TNFRSF8, STAT5A, IFNA2, KIT, KITLG

GO Terms for genes affiliated with Aggressive Systemic Mastocytosis

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Cellular components related to Aggressive Systemic Mastocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.9KITLG, KIT, IFNA2

Biological processes related to Aggressive Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.7KIT, IFNA2
2ectopic germ cell programmed cell deathGO:0352349.6KITLG, KIT
3embryonic hemopoiesisGO:0351629.6KIT, KITLG
4male gonad developmentGO:0085849.5KIT, KITLG
5phosphatidylinositol-mediated signalingGO:0480159.5KITLG, KIT
6epidermal growth factor receptor signaling pathwayGO:0071739.4KITLG, KIT
7peptidyl-tyrosine phosphorylationGO:0181089.3KIT, STAT5A
8negative regulation of mast cell apoptotic processGO:0330269.3KITLG, STAT5A
9fibroblast growth factor receptor signaling pathwayGO:0085439.3KITLG, KIT
10positive regulation of mast cell proliferationGO:0706689.3KITLG, STAT5A
11Fc-epsilon receptor signaling pathwayGO:0380959.1KITLG, KIT
12innate immune responseGO:0450879.1KITLG, KIT, IFNA2
13signal transductionGO:0071658.9TNFRSF8, KIT, KITLG

Molecular functions related to Aggressive Systemic Mastocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.3KITLG, IFNA2

Products for genes affiliated with Aggressive Systemic Mastocytosis

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  • Antibodies
  • Proteins
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet