ASM
MCID: AGG002
MIFTS: 52

Aggressive Systemic Mastocytosis (ASM) malady

Blood diseases, Cancer diseases, Rare 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 mastocytosis and systemic mastocytosis, 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 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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9Disease Ontology, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
aggressive systemic mastocytosis:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood


Aliases & Descriptions:

aggressive systemic mastocytosis 9 50 63
lymphadenopathic mastocytosis with eosinophilia 9
asm 9


External Ids:

Disease Ontology9 DOID:4798
MeSH36 D034721
NCIt41 C9285
ICD10 via Orphanet27 C96.2
SNOMED-CT via Orphanet60 397008008, 397358005
UMLS via Orphanet64 C1112486

Related Diseases for Aggressive Systemic Mastocytosis

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18GeneCards, 19GeneDecks
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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
1mastocytosis31.2IFNA2, KIT, KITLG
2systemic mastocytosis31.1KITLG, KIT, IFNA2, STAT5A
3mast-cell leukemia30.5KITLG, KIT
4leukemia30.3KITLG, KIT, IFNA2, STAT5A
5myeloma30.1TNFRSF8, STAT5A, IFNA2, KITLG
6protein-losing enteropathy10.2
7sclerosing cholangitis10.2
8cholangitis10.2
9cholestasis10.2
10eosinophilia10.2
11glomerulonephritis10.2
12hepatitis10.2
13histiocytosis10.2
14sarcoma10.2
15germ cell tumors10.2
16myelofibrosis10.1IFNA2
17kidney cancer10.1IFNA2
18skin atrophy10.0
19skin disease10.0
20blindness10.0
21synovial sarcoma10.0KIT, TNFRSF8
22factor vii deficiency10.0KIT, IFNA2
23urticaria pigmentosa10.0KIT, KITLG
24piebaldism10.0KITLG, KIT
25mycosis fungoides10.0IFNA2, TNFRSF8
26dysgerminoma10.0KIT, KITLG
27mast cell neoplasm10.0KIT, KITLG
28refractory anemia10.0KIT, KITLG
29kaposi's sarcoma10.0TNFRSF8, IFNA2
30neurofibroma10.0KITLG, 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 lymphoma10.0IFNA2, STAT5A, TNFRSF8
39neutropenia10.0IFNA2, KITLG
40atopic dermatitis10.0KITLG, TNFRSF8
41b-cell lymphomas10.0STAT5A, TNFRSF8
42chronic myelomonocytic leukemia10.0STAT5A, KIT, KITLG
43thrombocytopenia10.0KITLG, IFNA2
44seminoma10.0TNFRSF8, KIT, KITLG
45peripheral primitive neuroectodermal tumor10.0KITLG, KIT, TNFRSF8
46embryonal cancer10.0KITLG, KIT, TNFRSF8
47myelodysplastic syndromes10.0KITLG, KIT, STAT5A
48acute leukemia10.0KITLG, KIT, STAT5A
49myeloid leukemia10.0KITLG, KIT, STAT5A
50acute erythroid leukemia10.0STAT5A, 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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50Orphanet
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Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Aggressive Systemic Mastocytosis

Drug clinical trials:

Search ClinicalTrials for Aggressive Systemic Mastocytosis

Search NIH Clinical Center for Aggressive Systemic Mastocytosis

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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34MalaCards
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MalaCards organs/tissues related to Aggressive Systemic Mastocytosis:

34
Bone, Skin, Bone marrow, Lung, Liver, Ovary

Animal Models for Aggressive Systemic Mastocytosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Aggressive Systemic Mastocytosis:

38
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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53PubMed
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Articles related to Aggressive Systemic Mastocytosis:

(show all 23)
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
Treatment of aggressive systemic mastocytosis with daclizumab. (20038223)
2010
8
Aggressive systemic mastocytosis with Charcot-Leyden crystals-associated crystal storing histiocytosis in bone marrow. (20025488)
2010
9
Imatinib mesylate responsiveness in aggressive systemic mastocytosis: novel association with a platelet derived growth factor receptor beta mutation. (17133421)
2007
10
Aggressive systemic mastocytosis complicated by protein-losing enteropathy. (16843741)
2007
11
Aggressive systemic mastocytosis with sarcoma-like growth in the skeleton, leukemic progression, and partial loss of mast cell differentiation antigens. (18055976)
2007
12
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. (17259998)
2007
13
Aggressive systemic mastocytosis presenting with hepatic cholestasis. (17873616)
2007
14
Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. (17551405)
2007
15
Establishment of a murine model of aggressive systemic mastocytosis/mast cell leukemia. (16543062)
2006
16
Aggressive systemic mastocytosis: is there a role for trisomy 8? (15725484)
2005
17
Aggressive systemic mastocytosis: a case report and brief review of the literature. (15794480)
2005
18
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. (14687620)
2004
19
Aggressive systemic mastocytosis mimicking sclerosing cholangitis. (15377487)
2004
20
Inefficacy of imatinib-mesylate in sporadic, aggressive systemic mastocytosis. (15109544)
2004
21
Aggressive systemic mastocytosis. (12639621)
2003
22
Response to cyclosporin and low-dose methylprednisolone in aggressive systemic mastocytosis. (10329843)
1999
23
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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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 5Cell Signaling Technology, 39NCBI BioSystems Database, 54QIAGEN, 61Thomson Reuters, 56Reactome
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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 pathway61
9.2KIT, STAT5A
8
Show member pathways
Type III interferon signaling39
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)39
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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46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB, 62Tocris Bioscience
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Compounds related to Aggressive Systemic Mastocytosis according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid469.8KITLG, KIT
2toluidine469.8KITLG, KIT
3rhodamine 12346 5210.8KITLG, KIT
4filgrastim46 1210.7KITLG, IFNA2
5methylcellulose469.7KIT, KITLG
6pkc 412469.6KIT, STAT5A
7zidovudine46 52 1211.6IFNA2, KITLG
8carboplatin46 52 1211.6KITLG, IFNA2
9dasatinib46 52 1211.5STAT5A, KIT
10polyethylene glycol469.5KITLG, IFNA2
11ifn-alpha469.4STAT5A, IFNA2
12gm-csf46 3010.4KITLG, STAT5A
13prednisolone46 30 1211.3KITLG, IFNA2
14hydroxyurea46 52 1211.3IFNA2, KIT, KITLG
15gold469.3KITLG, KIT, IFNA2
16agarose469.3IFNA2, KIT, KITLG
175fluorouracil469.3KITLG, KIT, IFNA2
18ribonucleic acid469.3IFNA2, KIT, KITLG
19histamine46 30 2511.2KITLG, KIT, IFNA2
20nucleoside469.2KITLG, IFNA2
21doxorubicin46 52 1211.2KITLG, KIT, IFNA2
22paraffin469.2KITLG, KIT, TNFRSF8
23vincristine46 52 1211.2KIT, IFNA2
24ag-1296469.0STAT5A, KIT, KITLG
25su5416469.0KITLG, KIT, STAT5A
26gp 130469.0KITLG, KIT, STAT5A
27imatinib46 52 1211.0KITLG, KIT, STAT5A
28aspartate469.0KIT, IFNA2, STAT5A
29progesterone46 30 62 25 1212.9KIT, IFNA2, STAT5A
30rapamycin468.9KITLG, KIT, STAT5A
31pd 98,059468.9STAT5A, KIT, KITLG
32agar468.9STAT5A, IFNA2, KITLG
33cycloheximide468.9KITLG, KIT, STAT5A
34cyclosporin a46 30 6210.8KITLG, STAT5A, TNFRSF8
35zinc46 259.8TNFRSF8, STAT5A, IFNA2
36phosphatidylinositol468.8KITLG, KIT, STAT5A
37threonine468.7KIT, STAT5A, TNFRSF8
38nitric oxide46 25 1210.7KITLG, KIT, STAT5A
39alanine468.5STAT5A, IFNA2, KITLG
40cytarabine46 52 1210.5STAT5A, IFNA2, KIT, KITLG
41steroid468.5STAT5A, IFNA2, KIT, KITLG
42vegf468.5STAT5A, IFNA2, KIT, KITLG
43estrogen468.5STAT5A, IFNA2, KIT, KITLG
44retinoic acid46 259.5STAT5A, IFNA2, KIT, KITLG
45glucose468.4KITLG, KIT, IFNA2, STAT5A
46serine468.4TNFRSF8, STAT5A, KIT, KITLG
47lipid468.4TNFRSF8, STAT5A, IFNA2, KITLG
48calcium46 52 25 1211.3KITLG, KIT, STAT5A, TNFRSF8
49thymidine46 259.0KITLG, KIT, IFNA2, STAT5A, TNFRSF8
50tyrosine468.0TNFRSF8, STAT5A, IFNA2, KIT, KITLG

GO Terms for genes affiliated with Aggressive Systemic Mastocytosis

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17Gene Ontology
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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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  • Antibodies

Sources for Aggressive Systemic Mastocytosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet