ISM
MCID: IND002
MIFTS: 44

Indolent Systemic Mastocytosis (ISM) malady

Blood diseases, Cancer diseases, Rare diseases categories
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Summaries for Indolent Systemic Mastocytosis

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MalaCards based summary: Indolent Systemic Mastocytosis, also known as ISM, is related to systemic mastocytosis and mastocytosis, and has symptoms including urticaria, pruritus/itching and abnormal pigmentary skin changes/skin pigmentation anomalies. 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 Hematopoietic cell lineage and C-MYB transcription factor network. 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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Sources:
8Disease Ontology, 10DISEASES, 48Orphanet, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Indolent Systemic Mastocytosis, Aliases & Descriptions:

Name: Indolent Systemic Mastocytosis 8 10 48 62
 
Ism 8


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:4660
NCIt39 C9286
MeSH34 D034721
SNOMED-CT57 397356009, 70910003
ICD10 via Orphanet26 D47.0
UMLS via Orphanet63 C0272203

Related Diseases for Indolent Systemic Mastocytosis

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



Diseases related to indolent systemic mastocytosis

Symptoms for Indolent Systemic Mastocytosis

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Symptoms:

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

HPO human phenotypes related to Indolent Systemic Mastocytosis:

(show all 13)
id Description Frequency HPO Source Accession
1 pruritus hallmark (90%) HP:0000989
2 abnormality of skin pigmentation hallmark (90%) HP:0001000
3 urticaria hallmark (90%) HP:0001025
4 sudden cardiac death hallmark (90%) HP:0001645
5 diarrhea hallmark (90%) HP:0002014
6 nausea and vomiting hallmark (90%) HP:0002017
7 abdominal pain hallmark (90%) HP:0002027
8 migraine hallmark (90%) HP:0002076
9 impaired temperature sensation hallmark (90%) HP:0010829
10 mastocytosis hallmark (90%) HP:0100495
11 behavioral abnormality typical (50%) HP:0000708
12 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
13 reduced bone mineral density occasional (7.5%) HP:0004349

Drugs & Therapeutics for Indolent Systemic Mastocytosis

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Drug clinical trials:

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Search NIH Clinical Center for Indolent Systemic Mastocytosis

Genetic Tests for Indolent Systemic Mastocytosis

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Anatomical Context for Indolent Systemic Mastocytosis

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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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Articles related to Indolent Systemic Mastocytosis:

(show all 33)
idTitleAuthorsYear
1
Serum levels of bone cytokines in indolent systemic mastocytosis associated with osteopenia or osteoporosis. (24439083)
2014
2
Delayed diagnosis of adult indolent systemic mastocytosis. (25386326)
2014
3
Predictors of new fragility fractures after diagnosis of indolent systemic mastocytosis. (24985401)
2014
4
Indolent systemic mastocytosis in a patient with ileocolitis. (24975749)
2014
5
Omalizumab Induced Remission of Idiopathic Anaphylaxis in a Patient Suffering from Indolent Systemic Mastocytosis. (24162824)
2013
6
KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis. (23587333)
2013
7
Role of imatinib in the treatment of pediatric onset indolent systemic mastocytosis: a case report. (23659595)
2013
8
Serum tryptase monitoring in indolent systemic mastocytosis: association with disease features and patient outcome. (24155887)
2013
9
Prevalence of indolent systemic mastocytosis in a Dutch region. (23219169)
2013
10
Indolent systemic mastocytosis limited to the bone: a case report and review of the literature. (23903270)
2013
11
Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastocytosis. (23621866)
2013
12
Indolent systemic mastocytosis: a case and review of the current available treatment options. (24011312)
2013
13
Serum levels of bone cytokines are increased in indolent systemic mastocytosis associated with osteopenia or osteoporosis. (23910691)
2013
14
Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis. (22469616)
2012
15
Indolent systemic mastocytosis: is there a reliable radiographic pattern? (22281758)
2012
16
Tryptase and histamine metabolites as diagnostic indicators of indolent systemic mastocytosis without skin lesions. (22435702)
2012
17
High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis. (22229787)
2012
18
Indolent systemic mastocytosis treated with narrow-band UVB phototherapy: study of five cases. (21564325)
2012
19
Isolated bone marrow mastocytosis: an underestimated subvariant of indolent systemic mastocytosis. (21193416)
2011
20
Bone mineral density, bone turnover markers and fractures in patients with indolent systemic mastocytosis. (21782049)
2011
21
Indolent systemic mastocytosis without skin involvement vs. isolated bone marrow mastocytosis. (21454873)
2011
22
Gene expression analysis predicts insect venom anaphylaxis in indolent systemic mastocytosis. (21143240)
2011
23
Gene expression profile, pathways, and transcriptional system regulation in indolent systemic mastocytosis. (21208217)
2011
24
Indolent systemic mastocytosis. (20684189)
2010
25
Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. (19541349)
2009
26
Indolent systemic mastocytosis associated with atypical small lymphocytic lymphoma: a rare form of concomitant lymphoproliferative disease. (18448146)
2008
27
High omalizumab dose controls recurrent reactions to venom immunotherapy in indolent systemic mastocytosis. (18269681)
2008
28
Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with Hymenoptera venom anaphylaxis. (18177694)
2008
29
Use of a doula for labor coaching in a patient with indolent systemic mastocytosis in pregnancy. (16449169)
2006
30
Indolent systemic mastocytosis as the cause of a long history of unexplained hypotensive episodes. (16929885)
2006
31
Indolent systemic mastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severe anaphylactoid episodes. (15722637)
2005
32
Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL. (12688351)
2003
33
Heterogeneity of mast cells in mastocytosis and inhibitory effect of ketotifen and ranitidine on indolent systemic mastocytosis. (9440541)
1997

Variations for Indolent Systemic Mastocytosis

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Expression for genes affiliated with Indolent Systemic Mastocytosis

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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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Pathways related to Indolent Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5KIT, KITLG
29.5KITLG, KIT
39.5KITLG, KIT
4
Show member pathways
9.5KITLG, KIT
59.5KITLG, KIT
69.5KITLG, KIT
7
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.5KITLG, KIT
89.1PSMC4, PSMC5
9
Show member pathways
9.1PSMC5, PSMC4
109.1PSMC5, PSMC4
11
Show member pathways
9.1PSMC4, PSMC5
12
Show member pathways
9.1PSMC4, PSMC5
139.1PSMC4, PSMC5
149.1PSMC4, PSMC5
159.1PSMC4, PSMC5
16
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway60
9.1PSMC4, PSMC5
17
Show member pathways
8.2PSMC5, PSMC4, KIT, KITLG
18
Show member pathways
8.2PSMC5, PSMC4, KIT, KITLG
19
Show member pathways
8.2KITLG, KIT, PSMC4, PSMC5
20
Show member pathways
8.2KITLG, KIT, PSMC4, PSMC5
218.2PSMC5, PSMC4, KIT, KITLG
22
Show member pathways
8.2PSMC5, PSMC4, KIT, KITLG
23
Show member pathways
8.2KITLG, KIT, PSMC4, PSMC5
24
Show member pathways
8.2PSMC5, PSMC4, KIT, KITLG

Compounds for genes affiliated with Indolent Systemic Mastocytosis

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Indolent Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid449.9KITLG, KIT
2ag-1296449.8KITLG, KIT
3toluidine449.8KIT, KITLG
4su5416449.8KIT, KITLG
5rhodamine 12344 5010.8KITLG, KIT
6methylcellulose449.8KITLG, KIT
7hydroxyurea44 50 1111.7KITLG, KIT
8gp 130449.7KITLG, KIT
9cytarabine44 50 1111.6KIT, KITLG
10gold449.6KITLG, KIT
11erlotinib44 50 1111.5KIT, PSMC4
12imatinib44 50 1111.5KITLG, KIT
13isoleucine449.5KIT, PSMC4
14agarose449.4KIT, KITLG
15steroid449.2PSMC5, KIT, KITLG
16rapamycin449.0KITLG, KIT, PSMC4
17thymidine44 2410.0PSMC4, KIT, KITLG
18retinoic acid44 2410.0KITLG, KIT, PSMC5
19cycloheximide449.0PSMC4, KIT, KITLG
20vegf448.9KITLG, KIT, PSMC4
21phosphatidylinositol448.9PSMC4, KIT, KITLG
22nitric oxide44 24 1110.8KITLG, KIT, PSMC4
23glucose448.4KITLG, KIT, PSMC4

GO Terms for genes affiliated with Indolent Systemic Mastocytosis

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

idNameGO IDScoreTop Affiliating Genes
1cytosolic proteasome complexGO:0315979.1PSMC4, PSMC5
2proteasome complexGO:0005029.1PSMC4, PSMC5
3inclusion bodyGO:0162349.0PSMC4, PSMC5
4proteasome accessory complexGO:0226248.8PSMC4, PSMC5

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1ectopic germ cell programmed cell deathGO:0352349.8KITLG, KIT
2negative regulation of programmed cell deathGO:0430699.8KIT, PSMC5
3embryonic hemopoiesisGO:0351629.8KITLG, KIT
4male gonad developmentGO:0085849.6KITLG, KIT
5phosphatidylinositol-mediated signalingGO:0480159.5KITLG, KIT
6fibroblast growth factor receptor signaling pathwayGO:0085439.5KITLG, KIT
7regulation of cellular amino acid metabolic processGO:0065219.4PSMC4, PSMC5
8negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514369.4PSMC5, PSMC4
9DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:0069779.4PSMC4, PSMC5
10positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514379.4PSMC4, PSMC5
11regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514399.4PSMC5, PSMC4
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024799.4PSMC5, PSMC4
13antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425909.3PSMC5, PSMC4
14anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic processGO:0311459.3PSMC4, PSMC5
15antigen processing and presentation of peptide antigen via MHC class IGO:0024749.2PSMC4, PSMC5
16protein polyubiquitinationGO:0002099.2PSMC5, PSMC4
17regulation of apoptotic processGO:0429819.0PSMC4, PSMC5
18G1/S transition of mitotic cell cycleGO:0000828.8PSMC4, PSMC5

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

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

Products for genes affiliated with Indolent Systemic Mastocytosis

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  • Proteins
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet