ASM
MCID: AGG002
MIFTS: 39

Aggressive Systemic Mastocytosis (ASM) malady

Blood, Cancer, Immune categories

Summaries for Aggressive Systemic Mastocytosis

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33MalaCards
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MalaCards: Aggressive Systemic Mastocytosis, also known as lymphadenopathic mastocytosis with eosinophilia, is related to systemic mastocytosis and mastocytosis, and has symptoms including nausea/vomiting/regurgitation/merycism/hyperemesis, hyperhidrosis/increased sweating and hypotension. 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 ovary and bone marrow.

Aliases & Classifications for Aggressive Systemic Mastocytosis

Sources:
8Disease Ontology, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
aggressive systemic mastocytosis:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood


Aliases & Descriptions:

aggressive systemic mastocytosis 8 49 61
lymphadenopathic mastocytosis with eosinophilia 8
asm 8


External Ids:

Disease Ontology8 DOID:4798
NCIt40 C9285
MeSH35 D034721
ICD10 via Orphanet26 C96.2
SNOMED-CT via Orphanet58 397008008, 397358005
UMLS via Orphanet62 C1112486

Related Diseases for Aggressive Systemic Mastocytosis

Sources:
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 53)
idRelated DiseaseScoreTop Affiliating Genes
1systemic mastocytosis31.2IFNA2, STAT5A, KITLG, KIT
2mastocytosis31.2KIT, KITLG, IFNA2
3mast-cell leukemia30.5KIT, KITLG
4mast-cell sarcoma10.2
5protein-losing enteropathy10.2
6sclerosing cholangitis10.2
7skin atrophy10.0
8rheumatoid arthritis10.0TNFRSF8
9germ cell tumors10.0KIT
10germinoma10.0KIT
11prostate cancer10.0STAT5A
12hypereosinophilic syndrome10.0KIT
13vitiligo10.0KITLG
14hepatitis10.0IFNA2
15myelofibrosis10.0KIT, STAT5A
16urticaria pigmentosa10.0KIT, KITLG
17piebaldism10.0KITLG, KIT
18polycythemia10.0KITLG, STAT5A
19mast cell neoplasm10.0KIT, KITLG
20refractory anemia10.0KIT, KITLG
21synovial sarcoma10.0TNFRSF8, KIT
22dysgerminoma10.0KIT, KITLG
23precursor b-cell acute lymphoblastic leukemia10.0KITLG, KIT
24neurofibromatosis10.0KIT, KITLG
25mycosis fungoides10.0TNFRSF8, IFNA2
26sarcoma10.0KIT, KITLG
27factor vii deficiency10.0IFNA2, KIT
28colorectal cancer10.0KITLG, IFNA2
29neurofibroma10.0KIT, KITLG
30neutropenia10.0IFNA2, KITLG
31deficiency anemia10.0KITLG, IFNA2
32acute leukemia10.0STAT5A, KITLG, KIT
33chronic myelomonocytic leukemia10.0STAT5A, KITLG, KIT
34myeloid leukemia10.0KIT, KITLG, STAT5A
35peripheral primitive neuroectodermal tumor10.0TNFRSF8, KITLG, KIT
36myelodysplastic syndromes10.0KIT, KITLG, STAT5A
37embryonal cancer10.0TNFRSF8, KITLG, KIT
38seminoma10.0TNFRSF8, KITLG, KIT
39kaposi's sarcoma10.0TNFRSF8, IFNA2
40asthma10.0TNFRSF8, STAT5A, KITLG
41adenoma10.0TNFRSF8, STAT5A, KITLG
42cutaneous t cell lymphoma10.0IFNA2, TNFRSF8, STAT5A
43thrombocytosis10.0KITLG, IFNA2
44hematologic cancer10.0TNFRSF8, STAT5A, KITLG, KIT
45breast cancer10.0TNFRSF8, STAT5A, KIT
46viral infectious disease10.0KITLG, TNFRSF8, IFNA2
47hemorrhagic thrombocythemia10.0KIT, KITLG, STAT5A, IFNA2
48myeloproliferative disorder10.0IFNA2, STAT5A, KITLG, KIT
49polycythemia vera10.0KIT, KITLG, STAT5A, IFNA2
50chronic myeloid leukemia10.0KIT, KITLG, STAT5A, 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

Sources:
49Orphanet
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Symptoms:

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

Drugs & Therapeutics for Aggressive Systemic Mastocytosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Aggressive Systemic Mastocytosis

Drug clinical trials:

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Search NIH Clinical Center for Aggressive Systemic Mastocytosis

Search CenterWatch for Aggressive Systemic Mastocytosis

Genetic Tests for Aggressive Systemic Mastocytosis

Anatomical Context for Aggressive Systemic Mastocytosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Aggressive Systemic Mastocytosis:

33
Ovary, Bone marrow

Animal Models for Aggressive Systemic Mastocytosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Aggressive Systemic Mastocytosis

Sources:
51PubMed
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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

Expression for genes affiliated with Aggressive Systemic Mastocytosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 52QIAGEN, 30KEGG, 54Reactome
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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
Hide members
9.0TNFRSF8, KITLG, KIT
68.9KIT, KITLG, IFNA2
7
Hide members
8.7STAT5A, KITLG, KIT
8
Hide members
8.7KIT, KITLG, STAT5A
98.7KIT, KITLG, STAT5A
108.7STAT5A, KITLG, KIT
11
Hide members
8.7KIT, KITLG, STAT5A
12
Hide members
8.7STAT5A, KITLG, KIT
13
Hide members
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

Sources:
45Novoseek, 29IUPHAR, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience
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Compounds related to Aggressive Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid459.9KIT, KITLG
2gm-csf45 2910.9STAT5A
3toluidine459.9KIT, KITLG
4rhodamine 12345 5010.8KITLG, KIT
5aspartate459.8STAT5A
6filgrastim45 1110.7IFNA2, KITLG
7methylcellulose459.6KITLG, KIT
8glucose459.6KITLG, IFNA2
9pkc 412459.6KIT, STAT5A
10dasatinib45 50 1111.5STAT5A, KIT
11polyethylene glycol459.3KITLG, IFNA2
12hydroxyurea45 50 1111.3KIT, KITLG, IFNA2
13agarose459.3IFNA2, KITLG, KIT
14carboplatin45 50 1111.2KITLG, IFNA2
155fluorouracil459.2IFNA2, KITLG, KIT
16ribonucleic acid459.2KIT, KITLG, IFNA2
17paraffin459.2TNFRSF8, KITLG, KIT
18histamine45 29 2411.2KIT, KITLG, IFNA2
19doxorubicin45 50 1111.1IFNA2, KITLG, KIT
20ifn-alpha459.1STAT5A, IFNA2
21ag-1296459.1KIT, KITLG, STAT5A
22su5416459.1STAT5A, KITLG, KIT
23gp 130459.1STAT5A, KITLG, KIT
24imatinib45 50 1111.1KIT, KITLG, STAT5A
25zidovudine45 1110.0KITLG, IFNA2
26rapamycin459.0STAT5A, KITLG, KIT
27pd 98,059458.9KIT, KITLG, STAT5A
28agar458.9KITLG, STAT5A, IFNA2
29cyclosporin a45 29 6010.8KITLG, STAT5A, TNFRSF8
30progesterone45 60 29 11 2412.6IFNA2, STAT5A, KIT
31cytarabine45 50 1110.5IFNA2, STAT5A, KITLG, KIT
32steroid458.4KIT, KITLG, STAT5A, IFNA2
33vegf458.4IFNA2, STAT5A, KITLG, KIT
34retinoic acid45 249.4KIT, KITLG, STAT5A, IFNA2
35lipid458.2KITLG, STAT5A, TNFRSF8, IFNA2
36thymidine45 248.9KIT, KITLG, STAT5A, TNFRSF8, IFNA2
37tyrosine457.9IFNA2, TNFRSF8, STAT5A, KITLG, KIT

GO Terms for genes affiliated with Aggressive Systemic Mastocytosis

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Aggressive Systemic Mastocytosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet