ISM
MCID: IND002
MIFTS: 42

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 44 D034721
NCIt 50 C9286
SNOMED-CT 67 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 NF-kappaB Signaling 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, bone marrow and skin, and related phenotypes are nausea and vomiting and sudden cardiac death

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 93)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 31.0 TPSAB1 TNFRSF8 TET2 SRSF2 KITLG KIT
2 mastocytosis 30.3 TPSAB1 TNFRSF8 TET2 SRSF2 KITLG KIT
3 mast-cell sarcoma 30.2 KITLG KIT FIP1L1 CD2
4 myeloproliferative neoplasm 30.2 U2AF1 TET2 KITLG KIT FIP1L1
5 mastocytosis, cutaneous 30.0 TET2 LYN KITLG KIT FIP1L1 CD2
6 mast-cell leukemia 29.8 U2AF1 TNFRSF8 KITLG KIT ATP7A
7 sm-ahnmd 29.3 U2AF1 TET2 SRSF2 KITLG KIT FIP1L1
8 urticaria 10.5
9 osteoporosis 10.4
10 bone mineral density quantitative trait locus 8 10.4
11 bone mineral density quantitative trait locus 15 10.4
12 exanthem 10.4
13 benign mastocytoma 10.4 KIT CD2
14 dysgerminoma of ovary 10.3 KITLG KIT
15 lung leiomyosarcoma 10.3 KITLG KIT
16 nasal cavity benign neoplasm 10.3 KIT CD2
17 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.3 KIT FIP1L1
18 hypereosinophilic syndrome, idiopathic 10.3 KIT FIP1L1
19 dendritic cell deficiency 10.3 U2AF1 ASXL1
20 cutaneous solitary mastocytoma 10.3 KITLG KIT CD2
21 myelophthisic anemia 10.3 U2AF1 ASXL1
22 intratubular embryonal carcinoma 10.2 TNFRSF8 KIT
23 mixed germ cell cancer 10.2 TNFRSF8 KIT
24 pleural lipoma 10.2 TNFRSF8 KIT
25 leukocyte disease 10.2 U2AF1 KIT FIP1L1
26 diarrhea 10.2
27 isolated bone marrow mastocytosis 10.2
28 patau syndrome 10.2 U2AF1 SRSF2 ASXL1
29 eosinophilic gastritis 10.2 SIGLEC8 FIP1L1
30 chronic neutrophilic leukemia 10.2 U2AF1 SRSF2 ASXL1
31 parapsoriasis 10.2 TNFRSF8 CD2
32 dowling-degos disease 1 10.2 KITLG KIT
33 refractory cytopenia with multilineage dysplasia 10.2 U2AF1 TET2 ASXL1
34 childhood acute myeloid leukemia 10.2 TET2 KIT ASXL1
35 breast lymphoma 10.2 TNFRSF8 CD2
36 ovarian gonadoblastoma 10.2 TNFRSF8 KIT
37 follicular mucinosis 10.2 TNFRSF8 CD2
38 refractory anemia 10.1 TET2 ASXL1
39 lethal midline granuloma 10.1 TNFRSF8 CD2
40 thrombocytosis 10.1 TET2 KITLG ASXL1
41 mediastinal cancer 10.1 TNFRSF8 KIT
42 uterus leiomyosarcoma 10.1 TNFRSF8 KIT
43 co-trimoxazole allergy 10.1 LYN KIT
44 conventional fibrosarcoma 10.1 TNFRSF8 KIT
45 waardenburg syndrome, type 4b 10.1 KITLG KIT
46 reticulum cell sarcoma 10.1 TNFRSF8 CD2
47 testicular disease 10.1 TNFRSF8 KITLG KIT
48 uterine corpus sarcoma 10.1 TNFRSF8 KIT
49 melanoma, uveal 10.1 U2AF1 SRSF2 KIT ASXL1
50 blood platelet disease 10.1 U2AF1 TET2 KIT 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 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 sudden cardiac death 58 31 hallmark (90%) Very frequent (99-80%) HP:0001645
3 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
4 urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001025
5 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
6 abnormality of skin pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001000
7 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
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

GenomeRNAi Phenotypes related to Indolent Systemic Mastocytosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.23 ISM2 KIT LYN NDUFAF3 SIGLEC8 SRSF2

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 Proton Pump Inhibitors Phase 3
6 Histamine Antagonists Phase 3
7 Leukotriene Antagonists Phase 3
8 Cromolyn Sodium Phase 3
9 Antidepressive Agents Phase 3
10 Histamine H1 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:


# 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 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 Recruiting NCT04333108 Phase 3 Masitinib
3 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,
4 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
5 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
6 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
7 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
8 Mast Cell Connect: A Registry for Patients With Mastocytosis Completed NCT02620254
9 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Completed NCT03632811

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, Bone Marrow, Skin, Colon

Publications for Indolent Systemic Mastocytosis

Articles related to Indolent Systemic Mastocytosis:

(show top 50) (show all 152)
# Title Authors PMID Year
1
Cutaneous mastocytosis: A dermatological perspective. 61
33040350 2021
2
A rare manifestation of indolent systemic mastocytosis and its management during the coronavirus disease 2019 pandemic; educational lessons from Syria. 61
33520224 2021
3
Challenging diagnosis of indolent systemic mastocytosis isolated to the GI tract. 61
33504521 2021
4
Long-Term Successful Treatment of Indolent Systemic Mastocytosis With Omalizumab. 61
33574649 2021
5
Fracture Risk Reduction by Bisphosphonates in Mastocytosis? 61
32673882 2020
6
How "benign" is cutaneous mastocytosis? A Danish registry-based matched cohort study. 61
33015290 2020
7
Improved bioavailability of cromolyn sodium using inhaled PA101 delivered via eFlow® nebulizer. 61
32944204 2020
8
Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification. 61
32108361 2020
9
Psychological functioning and quality of life in patients with mastocytosis: A cross-sectional study. 61
31923542 2020
10
The Spectrum of Aggressive Mastocytosis: A Workshop Report and Literature Review. 61
31802761 2020
11
Molecular quantification of tissue disease burden is a new biomarker and independent predictor of survival in mastocytosis. 61
31018976 2020
12
Pancreatic neuroendocrine tumor presenting in indolent systemic mastocytosis: A case report. 61
33220657 2020
13
Skewed Lymphocyte Subpopulations and Associated Phenotypes in Patients with Mastocytosis. 61
31319217 2020
14
Idiopathic anaphylaxis. 61
31690394 2019
15
Mastocytosis presenting as insect anaphylaxis: gender differences and natural history. 61
31259747 2019
16
Frequency and prognostic impact of KIT and other genetic variants in indolent systemic mastocytosis. 61
31151985 2019
17
Anaphylactic risk due to systemic mastocytosis: Perioperative management in cardiac surgery. 61
30850182 2019
18
Everyday life and mastocytosis from a patient perspective-a qualitative study. 61
30230078 2019
19
Indolent systemic mastocytosis mimicking Crohn's disease. 61
30872912 2019
20
Novel approaches to treating advanced systemic mastocytosis. 61
31372066 2019
21
Efficacy of Omalizumab in Indolent Systemic Mastocytosis. 61
31637065 2019
22
Clinical evaluation of the safety, efficacy and tolerability of sarilumab in the treatment of moderate to severe rheumatoid arthritis. 61
31564885 2019
23
Mastocytosis: One Word for Different Diseases. 61
32700030 2018
24
Low frequency of acetyl salicylic acid hypersensitivity in mastocytosis: The results of a double-blind, placebo-controlled challenge study. 61
29569284 2018
25
Midostaurin in patients with indolent systemic mastocytosis: An open-label phase 2 trial. 61
29890238 2018
26
Tyrosine Kinase Inhibition in Mastocytosis: KIT and Beyond KIT. 61
30007468 2018
27
Development and validation of the mastocytosis activity score. 61
29405310 2018
28
Identification of alpha-gal sensitivity in patients with a diagnosis of idiopathic anaphylaxis. 61
29161766 2018
29
Indolent Systemic Mastocytosis Manifesting as Protracted Anaphylactic Shock. 61
29743774 2018
30
Systemic Mastocytosis: The Difficult Patient with a Rare Disease. Case Presentation and Brief Review. 61
29435387 2018
31
Multiple large osteolytic lesions in a patient with systemic mastocytosis: a challenging diagnosis. 61
29225841 2017
32
Mast Cell Burden in a Patient With Cutaneous Disease 61
29240865 2017
33
In utero presentation of aggressive systemic mastocytosis in a neonate. 61
28369700 2017
34
Routine abdominal ultrasonography has limited value in the care for patients with indolent systemic mastocytosis. 61
28486845 2017
35
Systemic Mastocytosis in Association with Small Lymphocytic Lymphoma. 61
28970467 2017
36
Fatal Anaphylaxis to Yellow Jacket Stings in Mastocytosis: Options for Identification and Treatment of At-Risk Patients. 61
28499778 2017
37
Management of Mastocytosis in Pregnancy: A Review. 61
28739366 2017
38
Denosumab for the Treatment of Mastocytosis-Related Osteoporosis: A Case Series. 61
28229176 2017
39
Management of poorly controlled indolent systemic mastocytosis using narrowband UVB phototherapy. 61
28632811 2017
40
Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report. 61
28181948 2017
41
Advances in the Classification and Treatment of Mastocytosis: Current Status and Outlook toward the Future. 61
28254862 2017
42
Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study. 61
28069279 2017
43
Longitudinal Evaluation of Bone Mineral Density and Bone Metabolism Markers in Patients with Indolent Systemic Mastocytosis Without Osteoporosis. 61
27743017 2017
44
The Role of TRAF4 and B3GAT1 Gene Expression in the Food Hypersensitivity and Insect Venom Allergy in Mastocytosis. 61
27086366 2016
45
Patient-reported disease-specific quality-of-life and symptom severity in systemic mastocytosis. 61
27089859 2016
46
Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. 61
27694501 2016
47
Narrow-band UVB phototherapy and psoralen-ultraviolet A photochemotherapy in the treatment of cutaneous mastocytosis: a study in 20 patients. 61
27353865 2016
48
Development and validation of the mastocytosis quality of life questionnaire: MC-QoL. 61
26797792 2016
49
Treatment of CD30-positive systemic mastocytosis with brentuximab vedotin. 61
26994848 2016
50
KIT D816V-mutated bone marrow mesenchymal stem cells in indolent systemic mastocytosis are associated with disease progression. 61
26622064 2016

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 12.07 TNFRSF8 LYN KITLG KIT CD2
2 11.43 KITLG KIT CD2
3 11.32 SIGLEC8 KITLG KIT CD2
4 10 LYN KITLG KIT

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 mRNA export from nucleus GO:0006406 9.54 U2AF1 SRSF2 FIP1L1
2 hemopoiesis GO:0030097 9.43 LYN KIT ASXL1
3 embryonic hemopoiesis GO:0035162 9.4 KITLG KIT
4 mRNA 3'-end processing GO:0031124 9.33 U2AF1 SRSF2 FIP1L1
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.32 TMC1 KIT
6 ectopic germ cell programmed cell death GO:0035234 8.96 KITLG KIT
7 positive regulation of mast cell proliferation GO:0070668 8.62 LYN KITLG

Sources for Indolent Systemic Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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