ASM
MCID: AGG002
MIFTS: 47

Aggressive Systemic Mastocytosis (ASM) malady

Blood diseases, Cancer diseases, Immune diseases categories

Summaries for Aggressive Systemic Mastocytosis

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MalaCards: Aggressive Systemic Mastocytosis, also known as lymphadenopathic mastocytosis with eosinophilia, is related to systemic mastocytosis and mast-cell leukemia, and has symptoms including lung/pulmonary infiltrates, respiratory distress/dyspnea/respiratory failure/lung volume reduction and mutiple fractures/bone fragility. 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 C-MYB transcription factor network and Melanocyte Development and Pigmentation. The compounds monochloroacetic acid and gm-csf have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow.

Aliases & Classifications for Aggressive Systemic Mastocytosis

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8Disease Ontology, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

aggressive systemic mastocytosis 8 48 60
lymphadenopathic mastocytosis with eosinophilia 8
asm 8


External Ids:

Disease Ontology8 DOID:4798
NCIt39 C9285
MeSH34 D034721
ICD10 via Orphanet26 C96.2
SNOMED-CT via Orphanet57 397008008, 397358005
UMLS via Orphanet61 C1112486

Related Diseases for Aggressive Systemic Mastocytosis

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17GeneCards, 18GeneDecks
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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 mastocytosis31.2IFNA2, STAT5A, KITLG, KIT
2mast-cell leukemia30.4KIT, KITLG
3leukemia30.4IFNA2, STAT5A, KITLG, KIT
4hepatitis30.2IFNA2
5mast cell neoplasm30.2KIT, KITLG
6sarcoma30.2KIT, KITLG
7myeloma30.1IFNA2, TNFRSF8, STAT5A, KITLG
8mast-cell sarcoma10.1
9protein-losing enteropathy10.1
10sclerosing cholangitis10.1
11cholangitis10.1
12cholestasis10.1
13eosinophilia10.1
14glomerulonephritis10.1
15histiocytosis10.1
16skin atrophy10.0
17skin disease10.0
18rheumatoid arthritis10.0TNFRSF8
19germ cell tumors10.0KIT
20germinoma10.0KIT
21prostate cancer10.0STAT5A
22hypereosinophilic syndrome10.0KIT
23vitiligo10.0KITLG
24myelofibrosis10.0KIT, STAT5A
25urticaria pigmentosa10.0KIT, KITLG
26piebaldism10.0KITLG, KIT
27polycythemia10.0KITLG, STAT5A
28refractory anemia10.0KIT, KITLG
29synovial sarcoma10.0TNFRSF8, KIT
30dysgerminoma10.0KIT, KITLG
31precursor b-cell acute lymphoblastic leukemia10.0KITLG, KIT
32neurofibromatosis10.0KIT, KITLG
33mycosis fungoides10.0TNFRSF8, IFNA2
34factor vii deficiency10.0IFNA2, KIT
35colorectal cancer10.0KITLG, IFNA2
36neurofibroma10.0KIT, KITLG
37neutropenia10.0IFNA2, KITLG
38deficiency anemia10.0KITLG, IFNA2
39acute leukemia10.0STAT5A, KITLG, KIT
40chronic myelomonocytic leukemia10.0STAT5A, KITLG, KIT
41myeloid leukemia10.0KIT, KITLG, STAT5A
42peripheral primitive neuroectodermal tumor10.0TNFRSF8, KITLG, KIT
43myelodysplastic syndromes10.0KIT, KITLG, STAT5A
44embryonal cancer10.0TNFRSF8, KITLG, KIT
45seminoma10.0TNFRSF8, KITLG, KIT
46kaposi's sarcoma10.0TNFRSF8, IFNA2
47asthma10.0TNFRSF8, STAT5A, KITLG
48adenoma10.0TNFRSF8, STAT5A, KITLG
49cutaneous t cell lymphoma10.0IFNA2, TNFRSF8, STAT5A
50mastocytosis10.0KIT, KITLG, IFNA2

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



Diseases related to aggressive systemic mastocytosis

Clinical Features for Aggressive Systemic Mastocytosis

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48Orphanet
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Symptoms:

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

Drugs & Therapeutics for Aggressive Systemic Mastocytosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Aggressive Systemic Mastocytosis

Genetic Tests for Aggressive Systemic Mastocytosis

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Anatomical Context for Aggressive Systemic Mastocytosis

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32MalaCards
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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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Publications for Aggressive Systemic Mastocytosis

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50PubMed
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Articles related to Aggressive Systemic Mastocytosis:

(show all 24)
idTitleAuthorsYear
1
Eosinophilia and bone lesion as clinical manifestations of aggressive systemic mastocytosis. (24369222)
2013
2
An unusual case of aggressive systemic mastocytosis with associated refractory plasma cell myeloma. (23009979)
2012
3
Aggressive systemic mastocytosis associated with mesangioproliferative glomerulonephritis. (21196717)
2011
4
Imatinib mesylate for aggressive systemic mastocytosis with long bone osteolysis. (21679828)
2011
5
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
6
Endoscopic ultrasound-guided fine needle aspiration: a powerful modality in the diagnosis of aggressive systemic mastocytosis. (20497208)
2011
7
Blood CD34-c-Kit+ cell rate correlates with aggressive forms of systemic mastocytosis and behaves like a mast cell precursor. (21878676)
2011
8
Treatment of aggressive systemic mastocytosis with daclizumab. (20038223)
2010
9
Aggressive systemic mastocytosis with Charcot-Leyden crystals-associated crystal storing histiocytosis in bone marrow. (20025488)
2010
10
Imatinib mesylate responsiveness in aggressive systemic mastocytosis: novel association with a platelet derived growth factor receptor beta mutation. (17133421)
2007
11
Aggressive systemic mastocytosis complicated by protein-losing enteropathy. (16843741)
2007
12
Aggressive systemic mastocytosis with sarcoma-like growth in the skeleton, leukemic progression, and partial loss of mast cell differentiation antigens. (18055976)
2007
13
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. (17259998)
2007
14
Aggressive systemic mastocytosis presenting with hepatic cholestasis. (17873616)
2007
15
Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. (17551405)
2007
16
Establishment of a murine model of aggressive systemic mastocytosis/mast cell leukemia. (16543062)
2006
17
Aggressive systemic mastocytosis: is there a role for trisomy 8? (15725484)
2005
18
Aggressive systemic mastocytosis: a case report and brief review of the literature. (15794480)
2005
19
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. (14687620)
2004
20
Aggressive systemic mastocytosis mimicking sclerosing cholangitis. (15377487)
2004
21
Inefficacy of imatinib-mesylate in sporadic, aggressive systemic mastocytosis. (15109544)
2004
22
Aggressive systemic mastocytosis. (12639621)
2003
23
Response to cyclosporin and low-dose methylprednisolone in aggressive systemic mastocytosis. (10329843)
1999
24
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

Genetic Variations for Aggressive Systemic Mastocytosis

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Expression for genes affiliated with Aggressive Systemic Mastocytosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 53Reactome
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Pathways related to Aggressive Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5KIT, KITLG
29.5KIT, KITLG
39.5KIT, KITLG
49.5KITLG, KIT
5
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9.0TNFRSF8, KITLG, KIT
68.9KIT, KITLG, IFNA2
7
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8.7STAT5A, KITLG, KIT
8
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8.7KIT, KITLG, STAT5A
98.7KIT, KITLG, STAT5A
108.7STAT5A, KITLG, KIT
11
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8.7KIT, KITLG, STAT5A
12
Hide members
8.7STAT5A, KITLG, KIT
13
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8.2KIT, KITLG, STAT5A, TNFRSF8
14
Hide members
8.2TNFRSF8, STAT5A, KITLG, KIT
15
Hide members
7.5KIT, KITLG, STAT5A, TNFRSF8, IFNA2

Compounds for genes affiliated with Aggressive Systemic Mastocytosis

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44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Aggressive Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid449.9KIT, KITLG
2gm-csf44 2810.9STAT5A
3toluidine449.9KIT, KITLG
4rhodamine 12344 4910.8KITLG, KIT
5aspartate449.8STAT5A
6filgrastim44 1110.7IFNA2, KITLG
7methylcellulose449.6KITLG, KIT
8glucose449.6KITLG, IFNA2
9pkc 412449.6KIT, STAT5A
10dasatinib44 49 1111.5STAT5A, KIT
11polyethylene glycol449.3KITLG, IFNA2
12hydroxyurea44 49 1111.3KIT, KITLG, IFNA2
13agarose449.3IFNA2, KITLG, KIT
14carboplatin44 49 1111.2KITLG, IFNA2
155fluorouracil449.2IFNA2, KITLG, KIT
16ribonucleic acid449.2KIT, KITLG, IFNA2
17paraffin449.2TNFRSF8, KITLG, KIT
18histamine44 28 2411.2KIT, KITLG, IFNA2
19doxorubicin44 49 1111.1IFNA2, KITLG, KIT
20ifn-alpha449.1STAT5A, IFNA2
21ag-1296449.1KIT, KITLG, STAT5A
22su5416449.1STAT5A, KITLG, KIT
23gp 130449.1STAT5A, KITLG, KIT
24imatinib44 49 1111.1KIT, KITLG, STAT5A
25zidovudine44 1110.0KITLG, IFNA2
26rapamycin449.0STAT5A, KITLG, KIT
27pd 98,059448.9KIT, KITLG, STAT5A
28agar448.9KITLG, STAT5A, IFNA2
29cyclosporin a44 28 5910.8KITLG, STAT5A, TNFRSF8
30progesterone44 59 28 11 2412.6IFNA2, STAT5A, KIT
31cytarabine44 49 1110.5IFNA2, STAT5A, KITLG, KIT
32steroid448.4KIT, KITLG, STAT5A, IFNA2
33vegf448.4IFNA2, STAT5A, KITLG, KIT
34retinoic acid44 249.4KIT, KITLG, STAT5A, IFNA2
35lipid448.2KITLG, STAT5A, TNFRSF8, IFNA2
36thymidine44 248.9KIT, KITLG, STAT5A, TNFRSF8, IFNA2
37tyrosine447.9IFNA2, TNFRSF8, STAT5A, KITLG, KIT

GO Terms for genes affiliated with Aggressive Systemic Mastocytosis

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16Gene Ontology
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Biological processes related to Aggressive Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1germ cell programmed cell deathGO:0352349.6KIT, KITLG
2embryonic hemopoiesisGO:0351629.6KIT, KITLG
3positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.5IFNA2, KIT
4hemopoiesisGO:0300979.4KIT, KITLG
5negative regulation of mast cell apoptotic processGO:0330269.3KITLG, STAT5A
6positive regulation of mast cell proliferationGO:0706689.3KITLG, STAT5A
7male gonad developmentGO:0085849.2KITLG, KIT
8peptidyl-tyrosine phosphorylationGO:0181089.2KIT, STAT5A
9innate immune responseGO:0450878.9KIT, KITLG, IFNA2

Products for genes affiliated with Aggressive Systemic Mastocytosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet