MCID: IND002
MIFTS: 41

Indolent Systemic Mastocytosis

Categories: Blood diseases, Rare diseases, Cancer diseases, Immune diseases

Aliases & Classifications for Indolent Systemic Mastocytosis

MalaCards integrated aliases for Indolent Systemic Mastocytosis:

Name: Indolent Systemic Mastocytosis 12 59 15 73
Ism 12

Characteristics:

Orphanet epidemiological data:

59
indolent systemic mastocytosis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:4660
ICD10 33 D47.0
MeSH 44 D034721
NCIt 50 C9286
SNOMED-CT 68 397356009 70910003
Orphanet 59 ORPHA98848
ICD10 via Orphanet 34 D47.0
UMLS via Orphanet 74 C0272203
UMLS 73 C0272203

Summaries for Indolent Systemic Mastocytosis

MalaCards based summary : Indolent Systemic Mastocytosis, also known as ism, is related to urticaria pigmentosa and systemic mastocytosis. An important gene associated with Indolent Systemic Mastocytosis is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are TGF-Beta Pathway and Akt Signaling. The drugs Staurosporine and 4'-N-benzoylstaurosporine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are behavioral abnormality and pruritus

Related Diseases for Indolent Systemic Mastocytosis

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



Diseases related to Indolent Systemic Mastocytosis

Symptoms & Phenotypes for Indolent Systemic Mastocytosis

Human phenotypes related to Indolent Systemic Mastocytosis:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
2 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
3 abnormality of skin pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001000
4 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
5 sudden cardiac death 59 32 hallmark (90%) Very frequent (99-80%) HP:0001645
6 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
7 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
8 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
9 headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002315
10 abnormality of the gastric mucosa 59 32 occasional (7.5%) Occasional (29-5%) HP:0004295
11 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
12 impaired temperature sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0010829
13 mastocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100495

Drugs & Therapeutics for Indolent Systemic Mastocytosis

Drugs for Indolent Systemic Mastocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Staurosporine Experimental Phase 2 62996-74-1
2 4'-N-benzoylstaurosporine Phase 2
3 Specific substance maruyama Phase 2
4 Protein Kinase Inhibitors Phase 2
5 Cromolyn Sodium Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3 Study to Compare Efficacy and Safety of Masitinib to Placebo in the Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap Unknown status NCT00814073 Phase 3 masitinib (AB1010);placebo
2 Study on Mastocytosis for Rupatadine Treatment Completed NCT01481909 Phase 2, Phase 3 Rupatadin
3 Midostaurin in Indolent Systemic Mastocytosis Unknown status NCT01920204 Phase 2 Midostaurin,
4 Treatment of Indolent Systemic Mastocytosis With PA101 Completed NCT02478957 Phase 2 PA101;Placebo
5 Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
6 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Active, not recruiting NCT02808793 Phase 1 AK002
7 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
8 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254

Search NIH Clinical Center for Indolent Systemic Mastocytosis

Genetic Tests for Indolent Systemic Mastocytosis

Anatomical Context for Indolent Systemic Mastocytosis

MalaCards organs/tissues related to Indolent Systemic Mastocytosis:

41
Bone, Skin, Bone Marrow, Colon

Publications for Indolent Systemic Mastocytosis

Articles related to Indolent Systemic Mastocytosis:

(show all 49)
# Title Authors Year
1
Midostaurin in indolent systemic mastocytosis patients: an open-label phase 2 trial. ( 29890238 )
2018
2
Indolent Systemic Mastocytosis Manifesting as Protracted Anaphylactic Shock. ( 29743774 )
2018
3
Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report. ( 28181948 )
2017
4
Management of poorly controlled indolent systemic mastocytosis using narrowband UVB phototherapy. ( 28632811 )
2017
5
Routine abdominal ultrasonography has limited value in the care for patients with indolent systemic mastocytosis. ( 28486845 )
2017
6
Longitudinal Evaluation of Bone Mineral Density and Bone Metabolism Markers in Patients with Indolent Systemic Mastocytosis Without Osteoporosis. ( 27743017 )
2017
7
Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study. ( 28069279 )
2017
8
Response of patients with indolent systemic mastocytosis to tamoxifen citrate. ( 26612479 )
2016
9
KIT D816V-mutated bone marrow mesenchymal stem cells in indolent systemic mastocytosis are associated with disease progression. ( 26622064 )
2016
10
Sustained improvement in urticaria pigmentosa and pruritus in a case of indolent systemic mastocytosis treated with cladribine. ( 25515765 )
2015
11
The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis. ( 25582384 )
2015
12
Response to celecoxib in a patient with indolent systemic mastocytosis presenting with intractable diarrhea. ( 26505934 )
2015
13
Increased IL6 plasma levels in indolent systemic mastocytosis patients are associated with high risk of disease progression. ( 26153655 )
2015
14
Therapeutic challenge during the long-term follow-up of a patient with indolent systemic mastocytosis with extensive cutaneous involvement. ( 26004600 )
2015
15
Predictors of new fragility fractures after diagnosis of indolent systemic mastocytosis. ( 24985401 )
2014
16
Indolent systemic mastocytosis in a patient with ileocolitis. ( 24975749 )
2014
17
Endoscopic findings of indolent systemic mastocytosis involving the colon. ( 25526423 )
2014
18
Serum levels of bone cytokines in indolent systemic mastocytosis associated with osteopenia or osteoporosis. ( 24439083 )
2014
19
MR-based trabecular bone microstructure is not altered in subjects with indolent systemic mastocytosis. ( 25542754 )
2014
20
Delayed diagnosis of adult indolent systemic mastocytosis. ( 25386326 )
2014
21
Omalizumab Induced Remission of Idiopathic Anaphylaxis in a Patient Suffering from Indolent Systemic Mastocytosis. ( 24162824 )
2013
22
Indolent systemic mastocytosis limited to the bone: a case report and review of the literature. ( 23903270 )
2013
23
Serum tryptase monitoring in indolent systemic mastocytosis: association with disease features and patient outcome. ( 24155887 )
2013
24
Indolent systemic mastocytosis: a case and review of the current available treatment options. ( 24011312 )
2013
25
Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastocytosis. ( 23621866 )
2013
26
Role of imatinib in the treatment of pediatric onset indolent systemic mastocytosis: a case report. ( 23659595 )
2013
27
KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis. ( 23587333 )
2013
28
Serum levels of bone cytokines are increased in indolent systemic mastocytosis associated with osteopenia or osteoporosis. ( 23910691 )
2013
29
Prevalence of indolent systemic mastocytosis in a Dutch region. ( 23219169 )
2013
30
Indolent systemic mastocytosis: is there a reliable radiographic pattern? ( 22281758 )
2012
31
High prevalence of fractures and osteoporosis in patients with indolent systemic mastocytosis. ( 22229787 )
2012
32
Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis. ( 22469616 )
2012
33
Tryptase and histamine metabolites as diagnostic indicators of indolent systemic mastocytosis without skin lesions. ( 22435702 )
2012
34
Indolent systemic mastocytosis treated with narrow-band UVB phototherapy: study of five cases. ( 21564325 )
2012
35
Gene expression analysis predicts insect venom anaphylaxis in indolent systemic mastocytosis. ( 21143240 )
2011
36
Indolent systemic mastocytosis without skin involvement vs. isolated bone marrow mastocytosis. ( 21454873 )
2011
37
Isolated bone marrow mastocytosis: an underestimated subvariant of indolent systemic mastocytosis. ( 21193416 )
2011
38
Gene expression profile, pathways, and transcriptional system regulation in indolent systemic mastocytosis. ( 21208217 )
2011
39
Bone mineral density, bone turnover markers and fractures in patients with indolent systemic mastocytosis. ( 21782049 )
2011
40
Indolent systemic mastocytosis. ( 20684189 )
2010
41
Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. ( 19541349 )
2009
42
Indolent systemic mastocytosis associated with atypical small lymphocytic lymphoma: a rare form of concomitant lymphoproliferative disease. ( 18448146 )
2008
43
Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with Hymenoptera venom anaphylaxis. ( 18177694 )
2008
44
High omalizumab dose controls recurrent reactions to venom immunotherapy in indolent systemic mastocytosis. ( 18269681 )
2008
45
Use of a doula for labor coaching in a patient with indolent systemic mastocytosis in pregnancy. ( 16449169 )
2006
46
Indolent systemic mastocytosis as the cause of a long history of unexplained hypotensive episodes. ( 16929885 )
2006
47
Indolent systemic mastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severe anaphylactoid episodes. ( 15722637 )
2005
48
Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL. ( 12688351 )
2003
49
Heterogeneity of mast cells in mastocytosis and inhibitory effect of ketotifen and ranitidine on indolent systemic mastocytosis. ( 9440541 )
1997

Variations for Indolent Systemic Mastocytosis

Expression for Indolent Systemic Mastocytosis

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

Pathways for Indolent Systemic Mastocytosis

GO Terms for Indolent Systemic Mastocytosis

Cellular components related to Indolent Systemic Mastocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic side of plasma membrane GO:0009898 8.62 CD2 KIT

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol phosphorylation GO:0046854 9.37 KIT KITLG
2 positive regulation of MAP kinase activity GO:0043406 9.32 KIT KITLG
3 ovarian follicle development GO:0001541 9.26 KIT KITLG
4 positive regulation of cell proliferation GO:0008284 9.26 CLEC11A KIT KITLG MVD
5 embryonic hemopoiesis GO:0035162 9.16 KIT KITLG
6 ectopic germ cell programmed cell death GO:0035234 8.62 KIT KITLG

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 KIT KITLG
2 carboxy-lyase activity GO:0016831 8.62 HDC MVD

Sources for Indolent Systemic Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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