ISM
MCID: IND002
MIFTS: 42

Indolent Systemic Mastocytosis (ISM)

Categories: Blood diseases, Cancer diseases, Rare 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 D47.02
MeSH 44 D034721
NCIt 50 C9286
SNOMED-CT 68 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 systemic mastocytosis and mastocytosis. An important gene associated with Indolent Systemic Mastocytosis is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Akt Signaling and PAK Pathway. The drugs Midostaurin and Staurosporine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are sudden cardiac death and nausea and vomiting

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

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
Midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
2 Staurosporine Experimental Phase 2 62996-74-1
3 Specific substance maruyama Phase 2
4 Protein Kinase Inhibitors Phase 2
5 Cromolyn Sodium Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Masitinib in Severe Indolent or Smoldering Systemic Mastocytosis Completed NCT00814073 Phase 3 Masitinib;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 Safety and Efficacy of Subcutaneous Sarilumab in Improving the Quality of Life in People With Indolent Systemic Mastocytosis Recruiting NCT03770273 Phase 2
7 (PIONEER) Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, Versus Placebo in Patients With Indolent and Smoldering Systemic Mastocytosis Recruiting NCT03731260 Phase 2 Avapritinib;Placebo
8 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Active, not recruiting NCT02808793 Phase 1 AK002
9 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
10 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254
11 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Not yet recruiting NCT03632811

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, Myeloid, Lung, Breast

Publications for Indolent Systemic Mastocytosis

Articles related to Indolent Systemic Mastocytosis:

(show top 50) (show all 120)
# 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
An interpretive structural modeling (ISM) and decision-making trail and evaluation laboratory (DEMATEL) method approach for the analysis of barriers of waste recycling in India. ( 28278038 )
2018
4
Determination of a new index of sexual maturity (ISM) in zebra mussel using flow cytometry: interest in ecotoxicology. ( 28567680 )
2018
5
A phase II study to evaluate the pharmacokinetics, safety, and tolerability of Risperidone ISM multiple intramuscular injections once every 4 weeks in patients with schizophrenia. ( 29112001 )
2018
6
A Call for a New Ism in Pharmacy. ( 29606715 )
2018
7
The cytoskeleton in 'couch potato-ism': Insights from a murine model of impaired actin dynamics. ( 29684438 )
2018
8
Factors affecting strategic plan implementation using interpretive structural modeling (ISM). ( 29865959 )
2018
9
Optimal Design of a Planar Textile Antenna for Industrial Scientific Medical (ISM) 2.4 GHz Wireless Body Area Networks (WBAN) with the CRO-SL Algorithm. ( 29933585 )
2018
10
Paper-Based Flexible Antenna for Wearable Telemedicine Applications at 2.4 GHz ISM Band. ( 30513719 )
2018
11
Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report. ( 28181948 )
2017
12
Management of poorly controlled indolent systemic mastocytosis using narrowband UVB phototherapy. ( 28632811 )
2017
13
Routine abdominal ultrasonography has limited value in the care for patients with indolent systemic mastocytosis. ( 28486845 )
2017
14
Longitudinal Evaluation of Bone Mineral Density and Bone Metabolism Markers in Patients with Indolent Systemic Mastocytosis Without Osteoporosis. ( 27743017 )
2017
15
Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study. ( 28069279 )
2017
16
Explaining recurring maser flares in the ISM through large-scale entangled quantum mechanical states. ( 28378015 )
2017
17
Biodegradation of anthracene by a newly isolated bacterial strain, Bacillus thuringiensis AT.ISM.1, isolated from a fly ash deposition site. ( 28763108 )
2017
18
An Enhanced Robust Control Algorithm Based on CNF and ISM for the MEMS Micromirror against Input Saturation and Disturbance. ( 30400516 )
2017
19
The importance of health(ism): A focus group study of lesbian, gay, bisexual, pansexual, queer and transgender individuals' understandings of health. ( 26311816 )
2017
20
Response of patients with indolent systemic mastocytosis to tamoxifen citrate. ( 26612479 )
2016
21
KIT D816V-mutated bone marrow mesenchymal stem cells in indolent systemic mastocytosis are associated with disease progression. ( 26622064 )
2016
22
Phase I, open-label, randomized, parallel study to evaluate the pharmacokinetics, safety, and tolerability of one intramuscular injection of risperidone ISM at different dose strengths in patients with schizophrenia or schizoaffective disorder (PRISMA-1). ( 27416102 )
2016
23
Ageism: The next big '-ism' to address? ( 27010872 )
2016
24
Face-ism and Objectification in Mainstream and LGBT Magazines. ( 27074012 )
2016
25
Implementation and Analysis of ISM 2.4 GHz Wireless Sensor Network Systems in Judo Training Venues. ( 27509501 )
2016
26
Evaluating the More Suitable ISM Frequency Band for IoT-Based Smart Grids: A Quantitative Study of 915 MHz vs. 2400 MHz. ( 28042863 )
2016
27
Meandered conformal antenna for ISM-band ingestible capsule communication systems. ( 28324976 )
2016
28
Sustained improvement in urticaria pigmentosa and pruritus in a case of indolent systemic mastocytosis treated with cladribine. ( 25515765 )
2015
29
The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis. ( 25582384 )
2015
30
Response to celecoxib in a patient with indolent systemic mastocytosis presenting with intractable diarrhea. ( 26505934 )
2015
31
Increased IL6 plasma levels in indolent systemic mastocytosis patients are associated with high risk of disease progression. ( 26153655 )
2015
32
Therapeutic challenge during the long-term follow-up of a patient with indolent systemic mastocytosis with extensive cutaneous involvement. ( 26004600 )
2015
33
A 0.33 nJ/bit IEEE802.15.6/Proprietary MICS/ISM Wireless Transceiver With Scalable Data Rate for Medical Implantable Applications. ( 25807573 )
2015
34
Face-ism and kernels of truth in facial inferences. ( 26021212 )
2015
35
Tau-ism: The Yin and Yang of Microtubule Sliding, Detachment, and Rupture. ( 26636932 )
2015
36
Predictors of new fragility fractures after diagnosis of indolent systemic mastocytosis. ( 24985401 )
2014
37
Indolent systemic mastocytosis in a patient with ileocolitis. ( 24975749 )
2014
38
Endoscopic findings of indolent systemic mastocytosis involving the colon. ( 25526423 )
2014
39
Serum levels of bone cytokines in indolent systemic mastocytosis associated with osteopenia or osteoporosis. ( 24439083 )
2014
40
MR-based trabecular bone microstructure is not altered in subjects with indolent systemic mastocytosis. ( 25542754 )
2014
41
Delayed diagnosis of adult indolent systemic mastocytosis. ( 25386326 )
2014
42
Wireless electrocardiogram transmission in ISM band: an approach towards telecardiology. ( 25085695 )
2014
43
Cold condensation of dust in the ISM. ( 25302393 )
2014
44
Analysis of radio wave propagation for ISM 2.4 GHz Wireless Sensor Networks in inhomogeneous vegetation environments. ( 25513820 )
2014
45
Radio characterization for ISM 2.4 GHz Wireless Sensor Networks for judo monitoring applications. ( 25615735 )
2014
46
Omalizumab Induced Remission of Idiopathic Anaphylaxis in a Patient Suffering from Indolent Systemic Mastocytosis. ( 24162824 )
2013
47
Indolent systemic mastocytosis limited to the bone: a case report and review of the literature. ( 23903270 )
2013
48
Serum tryptase monitoring in indolent systemic mastocytosis: association with disease features and patient outcome. ( 24155887 )
2013
49
Indolent systemic mastocytosis: a case and review of the current available treatment options. ( 24011312 )
2013
50
Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastocytosis. ( 23621866 )
2013

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

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

# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 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
Content
Loading form....