MCID: IND002
MIFTS: 38

Indolent Systemic Mastocytosis malady

Blood diseases, Cancer diseases, Rare diseases categories

Aliases & Classifications for Indolent Systemic Mastocytosis

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Sources:
8Disease Ontology, 10DISEASES, 48Orphanet, 61UMLS, 33MeSH, 56SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Indolent Systemic Mastocytosis:

Name: Indolent Systemic Mastocytosis 8 10 48 61
 
Ism 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
indolent systemic mastocytosis:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages


External Ids:

Disease Ontology8 DOID:4660
MeSH33 D034721
NCIt39 C9286
SNOMED-CT56 397356009, 70910003
Orphanet48 98848
ICD10 via Orphanet26 D47.0
UMLS via Orphanet62 C0272203

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 pruritus, abnormality of skin pigmentation and urticaria. 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.

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:

Search ClinicalTrials for Indolent Systemic Mastocytosis

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:

31
Skin, Bone, Bone marrow, Colon

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 37)
idTitleAuthorsYear
1
The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis. (25582384)
2015
2
Sustained improvement in urticaria pigmentosa and pruritus in a case of indolent systemic mastocytosis treated with cladribine. (25515765)
2015
3
Endoscopic findings of indolent systemic mastocytosis involving the colon. (25526423)
2014
4
Serum levels of bone cytokines in indolent systemic mastocytosis associated with osteopenia or osteoporosis. (24439083)
2014
5
Delayed diagnosis of adult indolent systemic mastocytosis. (25386326)
2014
6
Predictors of new fragility fractures after diagnosis of indolent systemic mastocytosis. (24985401)
2014
7
MR-based trabecular bone microstructure is not altered in subjects with indolent systemic mastocytosis. (25542754)
2014
8
Indolent systemic mastocytosis in a patient with ileocolitis. (24975749)
2014
9
Omalizumab Induced Remission of Idiopathic Anaphylaxis in a Patient Suffering from Indolent Systemic Mastocytosis. (24162824)
2013
10
KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis. (23587333)
2013
11
Role of imatinib in the treatment of pediatric onset indolent systemic mastocytosis: a case report. (23659595)
2013
12
Serum tryptase monitoring in indolent systemic mastocytosis: association with disease features and patient outcome. (24155887)
2013
13
Prevalence of indolent systemic mastocytosis in a Dutch region. (23219169)
2013
14
Indolent systemic mastocytosis limited to the bone: a case report and review of the literature. (23903270)
2013
15
Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastocytosis. (23621866)
2013
16
Indolent systemic mastocytosis: a case and review of the current available treatment options. (24011312)
2013
17
Serum levels of bone cytokines are increased in indolent systemic mastocytosis associated with osteopenia or osteoporosis. (23910691)
2013
18
Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis. (22469616)
2012
19
Indolent systemic mastocytosis: is there a reliable radiographic pattern? (22281758)
2012
20
Tryptase and histamine metabolites as diagnostic indicators of indolent systemic mastocytosis without skin lesions. (22435702)
2012
21
High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis. (22229787)
2012
22
Indolent systemic mastocytosis treated with narrow-band UVB phototherapy: study of five cases. (21564325)
2012
23
Isolated bone marrow mastocytosis: an underestimated subvariant of indolent systemic mastocytosis. (21193416)
2011
24
Bone mineral density, bone turnover markers and fractures in patients with indolent systemic mastocytosis. (21782049)
2011
25
Indolent systemic mastocytosis without skin involvement vs. isolated bone marrow mastocytosis. (21454873)
2011
26
Gene expression analysis predicts insect venom anaphylaxis in indolent systemic mastocytosis. (21143240)
2011
27
Gene expression profile, pathways, and transcriptional system regulation in indolent systemic mastocytosis. (21208217)
2011
28
Indolent systemic mastocytosis. (20684189)
2010
29
Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. (19541349)
2009
30
Indolent systemic mastocytosis associated with atypical small lymphocytic lymphoma: a rare form of concomitant lymphoproliferative disease. (18448146)
2008
31
High omalizumab dose controls recurrent reactions to venom immunotherapy in indolent systemic mastocytosis. (18269681)
2008
32
Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with Hymenoptera venom anaphylaxis. (18177694)
2008
33
Use of a doula for labor coaching in a patient with indolent systemic mastocytosis in pregnancy. (16449169)
2006
34
Indolent systemic mastocytosis as the cause of a long history of unexplained hypotensive episodes. (16929885)
2006
35
Indolent systemic mastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severe anaphylactoid episodes. (15722637)
2005
36
Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL. (12688351)
2003
37
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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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 Suite gene sharing:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5KIT, KITLG
29.5KITLG, KIT
39.5KITLG, KIT
4
Show member pathways
9.5KIT, KITLG
59.5KIT, KITLG
69.5KITLG, KIT
7
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.5KIT, KITLG
89.1PSMC5, PSMC4
9
Show member pathways
9.1PSMC4, PSMC5
109.1PSMC5, PSMC4
11
Show member pathways
9.1PSMC5, PSMC4
12
Show member pathways
9.1PSMC5, PSMC4
139.1PSMC5, PSMC4
149.1PSMC4, PSMC5
159.1PSMC5, PSMC4
16
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway59
9.1PSMC5, PSMC4
17
Show member pathways
8.2PSMC4, PSMC5, KIT, KITLG
18
Show member pathways
8.2KIT, PSMC4, PSMC5, KITLG
19
Show member pathways
8.2KITLG, KIT, PSMC4, PSMC5
20
Show member pathways
8.2PSMC4, PSMC5, KIT, KITLG
218.2KIT, PSMC5, PSMC4, KITLG
22
Show member pathways
8.2PSMC4, KITLG, KIT, PSMC5
23
Show member pathways
8.2PSMC5, PSMC4, KIT, KITLG
24
Show member pathways
8.2KITLG, PSMC5, PSMC4, KIT

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 Suite gene sharing:

(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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolic proteasome complexGO:00315979.1PSMC4, PSMC5
2proteasome complexGO:00005029.1PSMC4, PSMC5
3inclusion bodyGO:00162349.0PSMC4, PSMC5
4proteasome accessory complexGO:00226248.8PSMC4, PSMC5

Biological processes related to Indolent Systemic Mastocytosis according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1ectopic germ cell programmed cell deathGO:00352349.8KITLG, KIT
2negative regulation of programmed cell deathGO:00430699.8KIT, PSMC5
3embryonic hemopoiesisGO:00351629.8KITLG, KIT
4male gonad developmentGO:00085849.6KITLG, KIT
5phosphatidylinositol-mediated signalingGO:00480159.5KITLG, KIT
6fibroblast growth factor receptor signaling pathwayGO:00085439.5KITLG, KIT
7regulation of cellular amino acid metabolic processGO:00065219.4PSMC4, PSMC5
8negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:00514369.4PSMC5, PSMC4
9DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.4PSMC4, PSMC5
10positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:00514379.4PSMC4, PSMC5
11regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:00514399.4PSMC5, PSMC4
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:00024799.4PSMC5, PSMC4
13antigen processing and presentation of exogenous peptide antigen via MHC class IGO:00425909.3PSMC5, PSMC4
14anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic processGO:00311459.3PSMC4, PSMC5
15antigen processing and presentation of peptide antigen via MHC class IGO:00024749.2PSMC4, PSMC5
16protein polyubiquitinationGO:00002099.2PSMC5, PSMC4
17regulation of apoptotic processGO:00429819.0PSMC4, PSMC5
18G1/S transition of mitotic cell cycleGO:00000828.8PSMC4, PSMC5

Molecular functions related to Indolent Systemic Mastocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:00168879.1PSMC4, PSMC5

Sources for Indolent Systemic Mastocytosis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet