ISM
MCID: IND002
MIFTS: 41

Indolent Systemic Mastocytosis (ISM) malady

Blood diseases, Cancer diseases categories

Summaries for Indolent Systemic Mastocytosis

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32MalaCards
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MalaCards: Indolent Systemic Mastocytosis, also known as ISM, is related to systemic mastocytosis and urticaria pigmentosa, and has symptoms including osteoporosis/osteopenia/demineralisation/osteomalacia/rickets, epigastralgia/heartburn/gastric/duodenal ulcer/gastritis and humour troubles/anxiety/depression/apathy/euphoria/irritability. An important gene associated with Indolent 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 Regulation of KIT signaling. The compounds monochloroacetic acid and ag-1296 have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow.

Aliases & Classifications for Indolent Systemic Mastocytosis

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8Disease Ontology, 10DISEASES, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 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


Characteristics (Orphanet epidemiological data):

48
indolent systemic mastocytosis:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

indolent systemic mastocytosis 8 10 48 60
ism 8


External Ids:

Disease Ontology8 DOID:4660
NCIt39 C9286
MeSH34 D034721
SNOMED-CT56 397356009, 70910003
ICD10 via Orphanet26 D47.0
SNOMED-CT via Orphanet57 397356009, 70910003
UMLS via Orphanet61 C0272203

Related Diseases for Indolent Systemic Mastocytosis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Indolent Systemic Mastocytosis:



Diseases related to indolent systemic mastocytosis

Clinical Features for Indolent Systemic Mastocytosis

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48Orphanet
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Symptoms:

48 (show all 13)
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • hot flushes/sensation of cold
  • mastocytosis
  • facial pain/cephalalgia/migraine
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • acute diarrhea
  • acute abdominal pain/colic
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • pruritus/itching
  • urticaria

Drugs & Therapeutics for Indolent 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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Genetic Tests for Indolent Systemic Mastocytosis

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Anatomical Context for Indolent Systemic Mastocytosis

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32MalaCards
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MalaCards organs/tissues related to Indolent Systemic Mastocytosis:

32
Skin, Bone, Bone marrow

Animal Models for Indolent Systemic Mastocytosis or affiliated genes

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Publications for Indolent Systemic Mastocytosis

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50PubMed
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Articles related to Indolent Systemic Mastocytosis:

(show all 31)
idTitleAuthorsYear
1
Omalizumab Induced Remission of Idiopathic Anaphylaxis in a Patient Suffering from Indolent Systemic Mastocytosis. (24162824)
2013
2
KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis. (23587333)
2013
3
Role of imatinib in the treatment of pediatric onset indolent systemic mastocytosis: a case report. (23659595)
2013
4
Serum tryptase monitoring in indolent systemic mastocytosis: association with disease features and patient outcome. (24155887)
2013
5
Prevalence of indolent systemic mastocytosis in a Dutch region. (23219169)
2013
6
Indolent systemic mastocytosis limited to the bone: a case report and review of the literature. (23903270)
2013
7
Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastocytosis. (23621866)
2013
8
Indolent systemic mastocytosis: a case and review of the current available treatment options. (24011312)
2013
9
Nonaggressive systemic mastocytosis (SM) without skin lesions associated with insect-induced anaphylaxis showsA unique features versus other indolent SM. (23921094)
2013
10
Serum levels of bone cytokines are increased in indolent systemic mastocytosis associated with osteopenia or osteoporosis. (23910691)
2013
11
Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis. (22469616)
2012
12
Indolent systemic mastocytosis: is there a reliable radiographic pattern? (22281758)
2012
13
Tryptase and histamine metabolites as diagnostic indicators of indolent systemic mastocytosis without skin lesions. (22435702)
2012
14
High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis. (22229787)
2012
15
Indolent systemic mastocytosis treated with narrow-band UVB phototherapy: study of five cases. (21564325)
2012
16
Isolated bone marrow mastocytosis: an underestimated subvariant of indolent systemic mastocytosis. (21193416)
2011
17
Bone mineral density, bone turnover markers and fractures in patients with indolent systemic mastocytosis. (21782049)
2011
18
Indolent systemic mastocytosis without skin involvement vs. isolated bone marrow mastocytosis. (21454873)
2011
19
Gene expression analysis predicts insect venom anaphylaxis in indolent systemic mastocytosis. (21143240)
2011
20
Gene expression profile, pathways, and transcriptional system regulation in indolent systemic mastocytosis. (21208217)
2011
21
Indolent systemic mastocytosis. (20684189)
2010
22
Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. (19541349)
2009
23
Indolent systemic mastocytosis associated with atypical small lymphocytic lymphoma: a rare form of concomitant lymphoproliferative disease. (18448146)
2008
24
High omalizumab dose controls recurrent reactions to venom immunotherapy in indolent systemic mastocytosis. (18269681)
2008
25
Type Ib indolent mastocytosis with systemic involvement: cutaneous mastocytosis and gastrointestinal involvement at young girl. (19050805)
2008
26
Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with Hymenoptera venom anaphylaxis. (18177694)
2008
27
Use of a doula for labor coaching in a patient with indolent systemic mastocytosis in pregnancy. (16449169)
2006
28
Indolent systemic mastocytosis as the cause of a long history of unexplained hypotensive episodes. (16929885)
2006
29
Indolent systemic mastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severe anaphylactoid episodes. (15722637)
2005
30
Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL. (12688351)
2003
31
Heterogeneity of mast cells in mastocytosis and inhibitory effect of ketotifen and ranitidine on indolent systemic mastocytosis. (9440541)
1997

Genetic Variations for Indolent Systemic Mastocytosis

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Expression for genes affiliated with Indolent Systemic Mastocytosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Indolent Systemic Mastocytosis

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

Pathways for genes affiliated with Indolent Systemic Mastocytosis

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37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 29KEGG, 55SinoBiological, 12EMD Millipore
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Pathways related to Indolent Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5KIT, KITLG
29.5KITLG, KIT
39.5KIT, KITLG
4
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9.5KIT, KITLG
59.5KIT, KITLG
69.1PSMC4, PSMC5
7
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9.1PSMC5, PSMC4
89.1PSMC5, PSMC4
99.1PSMC5, PSMC4
109.1PSMC5, PSMC4
11
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9.1PSMC4, PSMC5
12
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8.2KIT, KITLG, PSMC5, PSMC4
13
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8.2KIT, KITLG, PSMC5, PSMC4
14
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8.2KIT, KITLG, PSMC5, PSMC4
15
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8.2PSMC4, PSMC5, KITLG, KIT
16
Hide members
8.2PSMC4, PSMC5, KITLG, KIT
17
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8.2PSMC4, PSMC5, KITLG, KIT
188.2PSMC4, PSMC5, KITLG, KIT

Compounds for genes affiliated with Indolent Systemic Mastocytosis

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Indolent Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid449.8KIT, KITLG
2ag-1296449.8KIT, KITLG
3toluidine449.8KIT, KITLG
4su5416449.8KIT, KITLG
5rhodamine 12344 4910.7KITLG, KIT
6erlotinib44 49 1111.7KIT, PSMC4
7methylcellulose449.7KIT, KITLG
8isoleucine449.6KIT, PSMC4
9cytarabine44 49 1111.5KIT, KITLG
10hydroxyurea44 49 1111.4KIT, KITLG
11gp 130449.2KIT, KITLG
12rapamycin449.2KIT, KITLG, PSMC4
13thymidine44 2410.1PSMC4, KITLG, KIT
14cycloheximide449.0KIT, KITLG, PSMC4
15steroid448.7PSMC5, KITLG, KIT

GO Terms for genes affiliated with Indolent Systemic Mastocytosis

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16Gene Ontology
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Cellular components related to Indolent Systemic Mastocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteasome complexGO:0005029.1PSMC5, PSMC4
2proteasome accessory complexGO:0226248.8PSMC5, PSMC4

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1germ cell programmed cell deathGO:0352349.8KIT, KITLG
2embryonic hemopoiesisGO:0351629.8KIT, KITLG
3hemopoiesisGO:0300979.7KIT, KITLG
4male gonad developmentGO:0085849.5KITLG, KIT
5negative regulation of programmed cell deathGO:0430699.5KIT, PSMC5
6regulation of cellular amino acid metabolic processGO:0065219.4PSMC4, PSMC5
7negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514369.3PSMC5, PSMC4
8DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:0069779.3PSMC5, PSMC4
9positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514379.3PSMC4, PSMC5
10antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024799.2PSMC5, PSMC4
11regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514399.2PSMC5, PSMC4
12antigen processing and presentation of peptide antigen via MHC class IGO:0024749.1PSMC5, PSMC4
13antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425909.0PSMC5, PSMC4
14anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic processGO:0311458.8PSMC5, PSMC4

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:0168879.1PSMC5, PSMC4

Products for genes affiliated with Indolent Systemic Mastocytosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Indolent 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