ISM
MCID: IND002
MIFTS: 44

Indolent Systemic Mastocytosis (ISM) malady

Blood diseases, Cancer diseases, Rare diseases categories

Summaries for Indolent Systemic Mastocytosis

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MalaCards: Indolent Systemic Mastocytosis, also known as ISM, is related to systemic mastocytosis and mastocytosis, 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 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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9Disease Ontology, 11DISEASES, 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


Characteristics (Orphanet epidemiological data):

50
indolent systemic mastocytosis:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

indolent systemic mastocytosis 9 11 50 63
ism 9


External Ids:

Disease Ontology9 DOID:4660
MeSH36 D034721
NCIt41 C9286
SNOMED-CT59 70910003, 397356009
ICD10 via Orphanet27 D47.0
SNOMED-CT via Orphanet60 397356009, 70910003
UMLS via Orphanet64 C0272203

Related Diseases for Indolent Systemic Mastocytosis

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18GeneCards, 19GeneDecks
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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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50Orphanet
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Symptoms:

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

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Drug clinical trials:

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Search NIH Clinical Center for Indolent Systemic Mastocytosis

Search CenterWatch for Indolent Systemic Mastocytosis

Genetic Tests for Indolent Systemic Mastocytosis

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Anatomical Context for Indolent Systemic Mastocytosis

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

34
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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53PubMed
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Articles related to Indolent Systemic Mastocytosis:

(show all 29)
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
Serum levels of bone cytokines are increased in indolent systemic mastocytosis associated with osteopenia or osteoporosis. (23910691)
2013
10
Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis. (22469616)
2012
11
Indolent systemic mastocytosis: is there a reliable radiographic pattern? (22281758)
2012
12
Tryptase and histamine metabolites as diagnostic indicators of indolent systemic mastocytosis without skin lesions. (22435702)
2012
13
High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis. (22229787)
2012
14
Indolent systemic mastocytosis treated with narrow-band UVB phototherapy: study of five cases. (21564325)
2012
15
Isolated bone marrow mastocytosis: an underestimated subvariant of indolent systemic mastocytosis. (21193416)
2011
16
Bone mineral density, bone turnover markers and fractures in patients with indolent systemic mastocytosis. (21782049)
2011
17
Indolent systemic mastocytosis without skin involvement vs. isolated bone marrow mastocytosis. (21454873)
2011
18
Gene expression analysis predicts insect venom anaphylaxis in indolent systemic mastocytosis. (21143240)
2011
19
Gene expression profile, pathways, and transcriptional system regulation in indolent systemic mastocytosis. (21208217)
2011
20
Indolent systemic mastocytosis. (20684189)
2010
21
Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. (19541349)
2009
22
Indolent systemic mastocytosis associated with atypical small lymphocytic lymphoma: a rare form of concomitant lymphoproliferative disease. (18448146)
2008
23
High omalizumab dose controls recurrent reactions to venom immunotherapy in indolent systemic mastocytosis. (18269681)
2008
24
Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with Hymenoptera venom anaphylaxis. (18177694)
2008
25
Use of a doula for labor coaching in a patient with indolent systemic mastocytosis in pregnancy. (16449169)
2006
26
Indolent systemic mastocytosis as the cause of a long history of unexplained hypotensive episodes. (16929885)
2006
27
Indolent systemic mastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severe anaphylactoid episodes. (15722637)
2005
28
Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL. (12688351)
2003
29
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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2BioGPS, 16Gene 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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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 5Cell Signaling Technology, 54QIAGEN, 61Thomson Reuters, 58SinoBiological, 56Reactome
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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
9.5KIT, KITLG
59.5KIT, KITLG
69.5KITLG, KIT
7
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)39
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 Pathway61
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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46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Indolent Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid469.9KITLG, KIT
2ag-1296469.8KIT, KITLG
3toluidine469.8KITLG, KIT
4su5416469.8KITLG, KIT
5rhodamine 12346 5210.8KITLG, KIT
6methylcellulose469.8KIT, KITLG
7hydroxyurea46 52 1211.7KIT, KITLG
8gp 130469.7KIT, KITLG
9cytarabine46 52 1211.6KITLG, KIT
10gold469.6KITLG, KIT
11erlotinib46 52 1211.5KIT, PSMC4
12imatinib46 52 1211.5KIT, KITLG
13isoleucine469.5KIT, PSMC4
14agarose469.4KIT, KITLG
15steroid469.2KITLG, PSMC5, KIT
16rapamycin469.0KIT, KITLG, PSMC4
17thymidine46 2510.0KIT, PSMC4, KITLG
18retinoic acid46 2510.0KITLG, KIT, PSMC5
19cycloheximide469.0PSMC4, KIT, KITLG
20vegf468.9PSMC4, KIT, KITLG
21phosphatidylinositol468.9PSMC4, KITLG, KIT
22nitric oxide46 25 1210.8PSMC4, KITLG, KIT
23glucose468.4KIT, PSMC4, KITLG

GO Terms for genes affiliated with Indolent Systemic Mastocytosis

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17Gene Ontology
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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:0430699.8PSMC5, KIT
3embryonic hemopoiesisGO:0351629.8KITLG, KIT
4male gonad developmentGO:0085849.6KITLG, KIT
5phosphatidylinositol-mediated signalingGO:0480159.5KIT, KITLG
6fibroblast growth factor receptor signaling pathwayGO:0085439.5KIT, KITLG
7regulation of cellular amino acid metabolic processGO:0065219.4PSMC5, PSMC4
8negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514369.4PSMC4, PSMC5
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:0514399.4PSMC4, PSMC5
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:0002099.2PSMC4, PSMC5
17regulation of apoptotic processGO:0429819.0PSMC5, PSMC4
18G1/S transition of mitotic cell cycleGO:0000828.8PSMC5, PSMC4

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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Sources for Indolent 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