ISM
MCID: IND002
MIFTS: 39

Indolent Systemic Mastocytosis (ISM)

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Indolent Systemic Mastocytosis

MalaCards integrated aliases for Indolent Systemic Mastocytosis:

Name: Indolent Systemic Mastocytosis 12 58 29 15 71
Ism 12

Characteristics:

Orphanet epidemiological data:

58
indolent systemic mastocytosis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:4660
MeSH 43 D034721
NCIt 49 C9286
SNOMED-CT 67 397356009 70910003
ICD10 32 D47.02
ICD10 via Orphanet 33 D47.0
UMLS via Orphanet 72 C0272203
Orphanet 58 ORPHA98848
UMLS 71 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 Hematopoietic Stem Cells and Lineage-specific Markers and Hematopoietic cell lineage. The drugs Cladribine and 2-chloro-3'-deoxyadenosine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are pruritus and abnormality of skin pigmentation

Related Diseases for Indolent Systemic Mastocytosis

Diseases related to Indolent Systemic Mastocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 32.2 U2AF1 TPSAB1 KITLG KIT FIP1L1 CD2
2 mastocytosis 30.9 TPSAB1 KITLG KIT FIP1L1 CD2 ASXL1
3 mastocytosis, cutaneous 30.4 KITLG KIT FIP1L1 CD2 ATP7A
4 myeloproliferative neoplasm 30.4 U2AF1 KITLG KIT FIP1L1
5 mast-cell leukemia 30.2 U2AF1 KITLG KIT ATP7A
6 mast-cell sarcoma 30.1 KITLG KIT FIP1L1 CD2
7 sm-ahnmd 29.6 U2AF1 KITLG KIT FIP1L1 CD2 ASXL1
8 urticaria 10.5
9 dysgerminoma of ovary 10.4 KITLG KIT
10 benign mastocytoma 10.4 KIT CD2
11 systemic mastocytosis with associated hematologic neoplasm 10.4 KIT ASXL1
12 osteoporosis 10.4
13 bone mineral density quantitative trait locus 8 10.4
14 bone mineral density quantitative trait locus 15 10.4
15 exanthem 10.4
16 cutaneous solitary mastocytoma 10.3 KITLG KIT CD2
17 refractory cytopenia with multilineage dysplasia 10.3 U2AF1 ASXL1
18 embryonal sarcoma 10.3 MALAT1 KIT
19 hypereosinophilic syndrome, idiopathic 10.3 KIT FIP1L1
20 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.3 KIT FIP1L1
21 dowling-degos disease 1 10.3 KITLG KIT
22 myelophthisic anemia 10.3 U2AF1 ASXL1
23 myelodysplastic/myeloproliferative neoplasm 10.2 U2AF1 KIT ASXL1
24 small cell cancer of the lung 10.2 U2AF1 MALAT1 KIT
25 thrombocytosis 10.2 U2AF1 KITLG ASXL1
26 diarrhea 10.2
27 isolated bone marrow mastocytosis 10.2
28 bladder diverticulum 10.1 DBH ATP7A
29 leukocyte disease 10.1 U2AF1 KIT FIP1L1
30 melanoma, uveal 10.0 U2AF1 MALAT1 KIT ASXL1
31 waardenburg syndrome, type 4b 10.0 KITLG KIT
32 chronic eosinophilic leukemia 10.0 U2AF1 KIT FIP1L1 ASXL1
33 kabuki syndrome 1 10.0 TMC1 MALAT1 DPPA3 CSPG5
34 endosteal hyperostosis, autosomal dominant 10.0
35 ileocolitis 10.0
36 bone resorption disease 10.0
37 nephrotic syndrome 10.0
38 allergic hypersensitivity disease 10.0
39 angioedema 10.0
40 plasma cell neoplasm 10.0
41 crohn's disease 10.0
42 allergic asthma 10.0
43 48,xyyy 10.0
44 light chain deposition disease 10.0
45 splenomegaly 10.0
46 chronic leukemia 10.0 U2AF1 KIT FIP1L1 ASXL1
47 bone marrow cancer 10.0 U2AF1 KIT ASXL1
48 spinal muscular atrophy, distal, x-linked 3 10.0 DBH ATP7A
49 polycythemia vera 9.9 U2AF1 KITLG KIT FIP1L1 ASXL1
50 extracutaneous mastocytoma 9.7 U2AF1 KITLG KIT FIP1L1 CD2 ASXL1

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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
2 abnormality of skin pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001000
3 urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001025
4 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
5 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
6 sudden cardiac death 58 31 hallmark (90%) Very frequent (99-80%) HP:0001645
7 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
8 mastocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100495
9 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
10 impaired temperature sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0010829
11 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
12 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
13 abnormality of the gastric mucosa 58 31 occasional (7.5%) Occasional (29-5%) HP:0004295

Drugs & Therapeutics for Indolent Systemic Mastocytosis

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
2 2-chloro-3'-deoxyadenosine Phase 3
3 Interferon-alpha Phase 3
4 interferons Phase 3
5 Antidepressive Agents Phase 3
6 Proton Pump Inhibitors Phase 3
7 Cromolyn Sodium Phase 3
8 Leukotriene Antagonists Phase 3
9 Histamine H1 Antagonists Phase 3
10 Histamine Antagonists Phase 3
11
midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
12
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
13 Protein Kinase Inhibitors Phase 2
14 Immunoglobulins Phase 2
15 Antibodies Phase 2
16 Antibodies, Monoclonal Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Randomized, Placebo-controlled, Phase 3 Study to Compare Efficacy and Safety of Masitinib at 6 mg/kg/Day to Placebo in Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap Completed NCT00814073 Phase 3 Masitinib;Placebo
2 Study on Mastocytosis for Rupatadine Treatment An Exploratory Phase IV, Randomised, Double-blind, Placebo Controlled Crossover Study to Assess the Efficacy of 20 mg Rupatadine on the Treatment of Completed NCT01481909 Phase 2, Phase 3 Rupatadin
3 Phase 3 Study to Compare Oral Masitinib to Placebo in Treatment of Patients With Smouldering or Indolent Severe Systemic Mastocytosis, Unresponsive to Optimal Symptomatic Treatment Not yet recruiting NCT04333108 Phase 3 Masitinib
4 Phase II Single Arm Open Pilot Study to Demonstrate the Efficacy of Midostaurin in Symptom Improvement and Decrease of Mast Cell Burden in Patients With Indolent or Smoldering Systemic Mastocytosis. Unknown status NCT01920204 Phase 2 Midostaurin,
5 Phase IIa, Open-label, Randomized Study of Oral AB1010 in Patients With Systemic Indolent Mastocytosis With Handicap and Not Bearing Activating Point Mutations in the Phosphotransferase Domain of c-Kit Such as the Main Mutation Asp-816-Val (D816V) Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
6 Randomized, Double-blind, Placebo-controlled, Crossover Design, Efficacy and Safety Study With PA101 in Patients With Indolent Systemic Mastocytosis Completed NCT02478957 Phase 2 PA101;Placebo
7 A 3-Part, Randomized, Double-Blind, Placebo-Controlled Phase 2 Study to Evaluate Safety and Efficacy of Avapritinib (BLU-285), a Selective KIT Mutation-Targeted Tyrosine Kinase Inhibitor, in Indolent and Smoldering Systemic Mastocytosis With Symptoms Inadequately Controlled With Standard Therapy Recruiting NCT03731260 Phase 2 Avapritinib;Placebo
8 A Phase 2 Randomized Double-Blinded Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutaneous Sarilumab in Improving the Quality of Life in Subjects With Indolent Systemic Mastocytosis Recruiting NCT03770273 Phase 2
9 A Phase 1, Single Ascending Dose and Multiple Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 in Patients With Indolent Systemic Mastocytosis Completed NCT02808793 Phase 1 AK002
10 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Completed NCT03632811
11 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

Genetic tests related to Indolent Systemic Mastocytosis:

# Genetic test Affiliating Genes
1 Indolent Systemic Mastocytosis 29

Anatomical Context for Indolent Systemic Mastocytosis

MalaCards organs/tissues related to Indolent Systemic Mastocytosis:

40
Bone, Skin, Bone Marrow, Colon

Publications for Indolent Systemic Mastocytosis

Articles related to Indolent Systemic Mastocytosis:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Psychological functioning and quality of life in patients with mastocytosis: A cross-sectional study. 61
31923542 2020
2
Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification. 61
32108361 2020
3
Molecular quantification of tissue disease burden is a new biomarker and independent predictor of survival in mastocytosis. 61
31018976 2020
4
The Spectrum of Aggressive Mastocytosis: A Workshop Report and Literature Review. 61
31802761 2020
5
Skewed Lymphocyte Subpopulations and Associated Phenotypes in Patients with Mastocytosis. 61
31319217 2020
6
Idiopathic anaphylaxis. 61
31690394 2019
7
Mastocytosis presenting as insect anaphylaxis: gender differences and natural history. 61
31259747 2019
8
Frequency and prognostic impact of KIT and other genetic variants in indolent systemic mastocytosis. 61
31151985 2019
9
Anaphylactic risk due to systemic mastocytosis: Perioperative management in cardiac surgery. 61
30850182 2019
10
Everyday life and mastocytosis from a patient perspective-a qualitative study. 61
30230078 2019
11
Indolent systemic mastocytosis mimicking Crohn's disease. 61
30872912 2019
12
Novel approaches to treating advanced systemic mastocytosis. 61
31372066 2019
13
Efficacy of Omalizumab in Indolent Systemic Mastocytosis. 61
31637065 2019
14
Clinical evaluation of the safety, efficacy and tolerability of sarilumab in the treatment of moderate to severe rheumatoid arthritis. 61
31564885 2019
15
Low frequency of acetyl salicylic acid hypersensitivity in mastocytosis: The results of a double-blind, placebo-controlled challenge study. 61
29569284 2018
16
Midostaurin in patients with indolent systemic mastocytosis: An open-label phase 2 trial. 61
29890238 2018
17
Tyrosine Kinase Inhibition in Mastocytosis: KIT and Beyond KIT. 61
30007468 2018
18
Development and validation of the mastocytosis activity score. 61
29405310 2018
19
Identification of alpha-gal sensitivity in patients with a diagnosis of idiopathic anaphylaxis. 61
29161766 2018
20
Indolent Systemic Mastocytosis Manifesting as Protracted Anaphylactic Shock. 61
29743774 2018
21
Systemic Mastocytosis: The Difficult Patient with a Rare Disease. Case Presentation and Brief Review. 61
29435387 2018
22
Multiple large osteolytic lesions in a patient with systemic mastocytosis: a challenging diagnosis. 61
29225841 2017
23
Mast Cell Burden in a Patient With Cutaneous Disease 61
29240865 2017
24
In utero presentation of aggressive systemic mastocytosis in a neonate. 61
28369700 2017
25
Systemic Mastocytosis in Association with Small Lymphocytic Lymphoma. 61
28970467 2017
26
Routine abdominal ultrasonography has limited value in the care for patients with indolent systemic mastocytosis. 61
28486845 2017
27
Management of Mastocytosis in Pregnancy: A Review. 61
28739366 2017
28
Fatal Anaphylaxis to Yellow Jacket Stings in Mastocytosis: Options for Identification and Treatment of At-Risk Patients. 61
28499778 2017
29
Denosumab for the Treatment of Mastocytosis-Related Osteoporosis: A Case Series. 61
28229176 2017
30
Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report. 61
28181948 2017
31
Management of poorly controlled indolent systemic mastocytosis using narrowband UVB phototherapy. 61
28632811 2017
32
Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future. 61
28254862 2017
33
Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study. 61
28069279 2017
34
Longitudinal Evaluation of Bone Mineral Density and Bone Metabolism Markers in Patients with Indolent Systemic Mastocytosis Without Osteoporosis. 61
27743017 2017
35
The Role of TRAF4 and B3GAT1 Gene Expression in the Food Hypersensitivity and Insect Venom Allergy in Mastocytosis. 61
27086366 2016
36
Patient-reported disease-specific quality-of-life and symptom severity in systemic mastocytosis. 61
27089859 2016
37
Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. 61
27694501 2016
38
Narrow-band UVB phototherapy and psoralen-ultraviolet A photochemotherapy in the treatment of cutaneous mastocytosis: a study in 20 patients. 61
27353865 2016
39
Development and validation of the mastocytosis quality of life questionnaire: MC-QoL. 61
26797792 2016
40
Treatment of CD30-positive systemic mastocytosis with brentuximab vedotin. 61
26994848 2016
41
KIT D816V-mutated bone marrow mesenchymal stem cells in indolent systemic mastocytosis are associated with disease progression. 61
26622064 2016
42
Increased IL6 plasma levels in indolent systemic mastocytosis patients are associated with high risk of disease progression. 61
26153655 2016
43
Response of patients with indolent systemic mastocytosis to tamoxifen citrate. 61
26612479 2016
44
Update on Mastocytosis (Part 2): Categories, Prognosis, and Treatment. 61
26525106 2016
45
Advances in the understanding and clinical management of mastocytosis and clonal mast cell activation syndromes. 61
27909577 2016
46
Mast Cell Clonal Disorders: Classification, Diagnosis and Management. 61
27942432 2016
47
Mast Cell Disorders In Drug Hypersensitivity. 61
27779084 2016
48
Systemic Mastocytosis with Smoldering Multiple Myeloma: Report of a Case. 61
27293930 2016
49
Successful treatment of mast cell activation syndrome with sunitinib. 61
26072665 2015
50
Response to celecoxib in a patient with indolent systemic mastocytosis presenting with intractable diarrhea. 61
26505934 2015

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

Pathways related to Indolent Systemic Mastocytosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.4 KITLG KIT CD2
2 10.79 KITLG KIT CD2
3 10.16 KITLG KIT

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 extracellular region GO:0005576 9.28 VPREB1 TPSAB1 KITLG ISM2 ISM1 DBH

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

# Name GO ID Score Top Affiliating Genes
1 embryonic hemopoiesis GO:0035162 9.16 KITLG KIT
2 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.96 TMC1 KIT
3 ectopic germ cell programmed cell death GO:0035234 8.62 KITLG KIT

Sources for Indolent Systemic Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....