ISM
MCID: IND002
MIFTS: 41

Indolent Systemic Mastocytosis (ISM) malady

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

Aliases & Classifications for Indolent Systemic Mastocytosis

Aliases & Descriptions for Indolent Systemic Mastocytosis:

Name: Indolent Systemic Mastocytosis 12 56 14 69
Ism 12

Characteristics:

Orphanet epidemiological data:

56
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 42 D034721
NCIt 47 C9286
SNOMED-CT 64 397356009 70910003
Orphanet 56 ORPHA98848
ICD10 via Orphanet 34 D47.0
UMLS via Orphanet 70 C0272203
UMLS 69 C0272203

Summaries for Indolent Systemic Mastocytosis

MalaCards based summary : Indolent Systemic Mastocytosis, also known as ism, is related to systemic mastocytosis and mastocytosis, and has symptoms including pruritus, headache and abdominal pain. 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 CREB Pathway. The drugs Staurosporine and 4'-N-benzoylstaurosporine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow.

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)
id Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 11.5
2 mastocytosis 10.6
3 intracranial sinus thrombosis 10.2 KIT KITLG
4 hemangioma of peripheral nerve 10.2 KIT KITLG
5 high grade b-cell lymphoma with rearrangements of myc and bcl2 and/or bcl6 10.2 KIT KITLG
6 cough variant asthma 10.2 KIT KITLG
7 invasive mole 10.2 KIT PDGFRA
8 dfnb1 10.2 KIT PDGFRA
9 kahrizi syndrome 10.2 KIT PDGFRA
10 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.2 KIT PDGFRA
11 malignant epithelial mesothelioma 10.2 KIT PDGFRA
12 larynx leiomyosarcoma 10.2 KIT PDGFRA
13 priapism 10.1 KIT KITLG
14 extranodal nasal nk/t cell lymphoma 10.1 KIT KITLG
15 rectum leiomyoma 10.1 KIT PDGFRA
16 pustulosis palmaris et plantaris 10.1 KIT PDGFRA
17 epidermolysis bullosa simplex, recessive 1 10.1 KIT KITLG
18 cerebral arterial disease 10.1 KIT PDGFRA
19 fragile x-associated tremor/ataxia syndrome 10.1 KIT PDGFRA
20 freemartinism 10.1 CD2 KIT
21 kidney clear cell sarcoma 10.1 KIT PDGFRA
22 syndromic x-linked intellectual disability 10.1 KIT KITLG
23 hyperandrogenism due to cortisone reductase deficiency 10.1 KIT PDGFRA
24 fibrosarcoma 10.1 KIT PDGFRA
25 small intestinal sarcoma 10.1 KIT PDGFRA
26 osteoporosis 10.1
27 multifocal osteogenic sarcoma 10.1 KIT PDGFRA
28 prostate cancer, hereditary, x-linked 1 10.1 KIT KITLG
29 c-p angle neurinoma 10.1 KIT PDGFRA
30 oral leukoedema 10.0 KIT PDGFRA
31 pericoronitis 10.0 HDC KIT KITLG
32 acute dacryoadenitis 10.0 KIT KITLG PDGFRA
33 brown-vialetto-van laere syndrome 10.0 KIT PDGFRA
34 erythrocytosis, somatic 10.0 KIT KITLG PDGFRA
35 actinobacillosis 10.0 KIT KITLG PDGFRA
36 gastrointestinal stromal tumor 10.0 KIT KITLG PDGFRA
37 peroxisome biogenesis disorder 7a 10.0 KIT KITLG PDGFRA
38 kala-azar 1 10.0 KIT KITLG PDGFRA
39 kidney rhabdoid cancer 10.0 CD2 KIT KITLG
40 meige syndrome 10.0 KIT PDGFRA
41 ganglioneuroma 9.9 CD2 KIT PDGFRA
42 urticaria pigmentosa 9.9
43 urticaria 9.9
44 isolated bone marrow mastocytosis 9.9
45 dentinogenesis imperfecta, shields type ii 9.8 CLEC11A KIT KITLG PDGFRA
46 olfactory nerve disease 9.8 CD2 KIT KITLG PDGFRA
47 lymphoma 9.8
48 ileocolitis 9.8
49 diarrhea 9.8
50 cranioectodermal dysplasia 1 9.7 CD2 KIT KITLG

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:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Very frequent (99-80%) HP:0000989
2 headache 56 32 Very frequent (99-80%) HP:0002315
3 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
4 diarrhea 56 32 Very frequent (99-80%) HP:0002014
5 nausea and vomiting 56 32 Very frequent (99-80%) HP:0002017
6 sudden cardiac death 56 32 Very frequent (99-80%) HP:0001645
7 behavioral abnormality 56 32 Frequent (79-30%) HP:0000708
8 reduced bone mineral density 56 32 Occasional (29-5%) HP:0004349
9 urticaria 56 32 Very frequent (99-80%) HP:0001025
10 abnormality of the gastric mucosa 56 32 Occasional (29-5%) HP:0004295
11 abnormality of skin pigmentation 56 32 Very frequent (99-80%) HP:0001000
12 mastocytosis 56 32 Very frequent (99-80%) HP:0100495
13 impaired temperature sensation 56 32 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):

(show all 23)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Staurosporine Experimental Phase 2 62996-74-1
2 4'-N-benzoylstaurosporine Phase 2
3 Protein Kinase Inhibitors Phase 2
4 Specific substance maruyama Phase 2
5 Cromolyn Sodium Phase 2
6
Cyclosporine Approved, Investigational, Vet_approved 79217-60-0, 59865-13-3 5284373 6435893
7
Fludarabine Approved 21679-14-1, 75607-67-9 30751
8
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
9
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
10
Mycophenolic acid Approved 24280-93-1 446541
11
Vidarabine Approved 24356-66-9 32326 21704
12 Anti-Bacterial Agents
13 Antibiotics, Antitubercular
14 Antifungal Agents
15 Anti-Infective Agents
16 Antimetabolites
17 Antimetabolites, Antineoplastic
18 Antirheumatic Agents
19 Antiviral Agents
20 Calcineurin Inhibitors
21 Dermatologic Agents
22 Immunosuppressive Agents
23 Vidarabine Phosphate

Interventional clinical trials:


id Name Status NCT ID Phase
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
2 Study on Mastocytosis for Rupatadine Treatment Completed NCT01481909 Phase 2, Phase 3
3 Midostaurin in Indolent Systemic Mastocytosis Unknown status NCT01920204 Phase 2
4 Treatment of Indolent Systemic Mastocytosis With PA101 Completed NCT02478957 Phase 2
5 Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Completed NCT00831974 Phase 2
6 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 Recruiting NCT02808793 Phase 1
7 Patient-Reported Outcome Questionnaire for Systemic Mastocytosis Completed NCT02380222
8 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254
9 Diagnostic Value of Bone Marrow Tryptase in Systemic Mastocytosis Recruiting NCT02441166
10 Fludarabine Phosphate and Total-Body Radiation Followed by Donor Peripheral Blood Stem Cell Transplant and Immunosuppression in Treating Patients With Hematologic Malignancies Active, not recruiting NCT00014235

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:

39
Bone, Skin, Bone Marrow, Colon

Publications for Indolent Systemic Mastocytosis

Articles related to Indolent Systemic Mastocytosis:

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

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

(show all 24)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 CD2 CLEC11A KIT KITLG PDGFRA
2
Show member pathways
12.99 CLEC11A KIT KITLG PDGFRA
3
Show member pathways
12.93 CLEC11A KIT KITLG PDGFRA
4
Show member pathways
12.91 CD2 CLEC11A KIT KITLG PDGFRA
5
Show member pathways
12.65 CLEC11A KIT KITLG PDGFRA
6
Show member pathways
12.62 CD2 CLEC11A KIT KITLG PDGFRA
7
Show member pathways
12.59 CLEC11A KIT KITLG PDGFRA
8
Show member pathways
12.42 KIT KITLG PDGFRA
9
Show member pathways
12.41 KIT KITLG PDGFRA
10 12.34 KIT KITLG PDGFRA
11 12.26 KIT KITLG PDGFRA
12 12.18 CD2 KIT KITLG
13
Show member pathways
12 KIT KITLG PDGFRA
14 11.59 KIT KITLG PDGFRA
15 11.51 KIT KITLG
16
Show member pathways
11.44 KIT PDGFRA
17 11.39 KIT PDGFRA
18 11.39 CLEC11A KITLG PDGFRA
19 11.28 KIT PDGFRA
20 11.22 KIT KITLG
21 11.2 CD2 KIT KITLG
22 11.11 KIT KITLG
23 10.79 CD2 KIT KITLG
24 10.53 KIT KITLG

GO Terms for Indolent Systemic Mastocytosis

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic side of plasma membrane GO:0009898 8.96 CD2 KIT
2 external side of plasma membrane GO:0009897 8.8 CD2 KIT PDGFRA

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.63 KIT KITLG PDGFRA
2 cell chemotaxis GO:0060326 9.54 KIT PDGFRA
3 phosphatidylinositol-mediated signaling GO:0048015 9.54 KIT KITLG PDGFRA
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.52 KIT PDGFRA
5 positive regulation of MAP kinase activity GO:0043406 9.51 KIT KITLG
6 ovarian follicle development GO:0001541 9.49 KIT KITLG
7 positive regulation of DNA replication GO:0045740 9.48 KITLG PDGFRA
8 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.43 KIT PDGFRA
9 phosphatidylinositol phosphorylation GO:0046854 9.43 KIT KITLG PDGFRA
10 embryonic hemopoiesis GO:0035162 9.4 KIT KITLG
11 positive regulation of phospholipase C activity GO:0010863 9.32 KIT PDGFRA
12 ectopic germ cell programmed cell death GO:0035234 9.16 KIT KITLG
13 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.13 KIT KITLG PDGFRA
14 positive regulation of cell proliferation GO:0008284 9.02 CLEC11A KIT KITLG MVD PDGFRA

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

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.56 CD2 KIT MVD PDGFRA
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.32 KIT PDGFRA
3 carboxy-lyase activity GO:0016831 9.16 HDC MVD
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.13 KIT KITLG PDGFRA
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.8 KIT KITLG PDGFRA

Sources for Indolent Systemic Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....