MCID: SYS004
MIFTS: 65

Systemic Mastocytosis malady

Rare diseases, Cancer diseases, Blood diseases categories

Summaries for Systemic Mastocytosis

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NIH Rare Diseases:43 Systemic mastocytosis is a condition caused by the accumulation of mast cells in more than one part of the body. mast cells contain substances such as histamine that regulate allergic reactions. in systemic mastocytosis, mast cells may build up in the bone marrow, internal organs, or in the skin. this condition is usually diagnosed in adults. treatment is generally based on a person's symptoms, but it may include antihistamines (to prevent the effect of mast cell histamine) or chemotherapy for more aggressive forms.there are several different types of systemic mastocytosis. indolent systemic mastocytosis develops slowly, while aggressive systemic mastocytosis develops more rapidly. another form, called systemic mastocytosis with associated hemotologic non-mast cell lineage disease (sm-ahnmd), is characterized by the presence of several types of blood disorders. mast cell leukemia is a rare form of systemic mastocytosis. last updated: 10/5/2012

MalaCards based summary: Systemic Mastocytosis, also known as systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease, is related to mastocytosis and leukemia, and has symptoms including urticaria, abnormality of eosinophils and nausea and vomiting. An important gene associated with Systemic Mastocytosis is KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), and among its related pathways are C-MYB transcription factor network and Melanocyte Development and Pigmentation. The compounds monochloroacetic acid and ag-1296 have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related mouse phenotypes are immune system and hematopoietic system.

Aliases & Classifications for Systemic Mastocytosis

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 43NIH Rare Diseases, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Systemic Mastocytosis, Aliases & Descriptions:

Name: Systemic Mastocytosis 32 10 43 12
Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease 43 49
Systemic Tissue Mast Cell Disease 10 62
Smcd - Systemic Mast Cell Disease 10 62
Indolent Systemic Mastocytosis 43 62
Leukemia Mast Cell 45 24
Systemic Mastocytosis with Associated Hemotologic Non-Mast Cell Lineage Disease 43
Corneal Dystrophy, Subepithelial Mucinous 62
Desquamative Interstitial Pneumonia 43
 
Agressive Systemic Mastocytosis 43
Systemic Mast Cell Disease 43
Systemic Mast-Cell Disease 62
Mastocytosis, Systemic 62
Mastocytosis Systemic 45
Leukemia, Mast-Cell 62
Mast Cell Leukemia 43
Mast Cell Disease 43
Smcd 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49

External Ids:

Disease Ontology10 DOID:349
MeSH35 D034721
NCIt40 C9235
Orphanet49 98849
ICD10 via Orphanet28 C96.2
UMLS via Orphanet63 C1301365
ICD1027 C94.3

Related Diseases for Systemic Mastocytosis

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Diseases in the Mastocytosis family:

systemic mastocytosis

Diseases related to Systemic Mastocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 155)
idRelated DiseaseScoreTop Affiliating Genes
1mastocytosis32.0CD2, KITLG, KIT, IFNA2
2leukemia31.1KIT, KITLG, IFNA2, FCER2, CD2, CD5
3bronchiolitis31.0FCER2
4urticaria30.9FCER2
5urticaria pigmentosa30.8KIT, KITLG
6chronic myelomonocytic leukemia30.6KITLG, KIT
7eosinophilia30.6FCER2, CD2, IFNA2
8myeloma30.4KITLG, FCER2, IFNA2
9neurofibromatosis30.4KITLG, KIT
10myelofibrosis30.4IFNA2
11sarcoma30.4FCER2, KITLG, KIT
12myelodysplastic syndrome30.3KITLG, KIT
13chronic lymphocytic leukemia30.2MS4A1, CD5, FCER2
14b-cell lymphomas30.2FCER2, CD5, MS4A1
15renal cell carcinoma30.1IFNA2
16mast cell neoplasm30.1KIT, KITLG
17thrombocytosis30.0KITLG, IFNA2
18essential thrombocythemia30.0KITLG, IFNA2, KIT
19melanoma30.0KIT, IFNA2, CD2, KITLG
20desquamative interstitial pneumonia11.3
21pneumonia11.3
22indolent systemic mastocytosis10.8
23aggressive systemic mastocytosis10.7
24interstitial lung disease10.6
25osteoporosis10.6
26myeloid leukemia10.6
27sm-ahnmd10.5
28mast-cell leukemia10.5
29pulmonary fibrosis10.4
30pulmonary alveolar proteinosis10.4
31portal hypertension10.4
32smouldering systemic mastocytosis10.4
33subepithelial mucinous corneal dystrophy10.3
34classic mast cell leukemia10.3
35rheumatoid arthritis10.3
36hepatitis c virus10.3
37sudden infant death syndrome10.3
38pulmonary function10.3
39arthritis10.3
40focal segmental glomerulosclerosis10.3
41hepatitis c10.3
42nonspecific interstitial pneumonia10.3
43rubella10.3
44diffuse pulmonary fibrosis10.3
45glomerulosclerosis10.3
46idiopathic interstitial pneumonia10.3
47laryngeal carcinoma10.3
48laryngitis10.3
49pulmonary embolism10.3
50congenital rubella10.3

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



Diseases related to systemic mastocytosis

Symptoms for Systemic Mastocytosis

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Symptoms:

 49
  • eosinophils anomalies/hypereosinophilia
  • acute leukemia
  • myeloproliferative syndrome/chronic leukemia
  • mastocytosis

HPO human phenotypes related to Systemic Mastocytosis:

(show all 31)
id Description Frequency HPO Source Accession
1 urticaria hallmark (90%) HP:0001025
2 abnormality of eosinophils hallmark (90%) HP:0001879
3 nausea and vomiting hallmark (90%) HP:0002017
4 malabsorption hallmark (90%) HP:0002024
5 abdominal pain hallmark (90%) HP:0002027
6 migraine hallmark (90%) HP:0002076
7 mastocytosis hallmark (90%) HP:0100495
8 acute leukemia hallmark (90%) HP:0002488
9 skin rash typical (50%) HP:0000988
10 thrombocytopenia typical (50%) HP:0001873
11 leukopenia typical (50%) HP:0001882
12 anemia typical (50%) HP:0001903
13 reduced bone mineral density typical (50%) HP:0004349
14 impaired temperature sensation typical (50%) HP:0010829
15 increased bone mineral density typical (50%) HP:0011001
16 cirrhosis occasional (7.5%) HP:0001394
17 portal hypertension occasional (7.5%) HP:0001409
18 ascites occasional (7.5%) HP:0001541
19 sudden cardiac death occasional (7.5%) HP:0001645
20 splenomegaly occasional (7.5%) HP:0001744
21 asthma occasional (7.5%) HP:0002099
22 hepatomegaly occasional (7.5%) HP:0002240
23 acute leukemia occasional (7.5%) HP:0002488
24 bone pain occasional (7.5%) HP:0002653
25 lymphadenopathy occasional (7.5%) HP:0002716
26 recurrent fractures occasional (7.5%) HP:0002757
27 osteolysis occasional (7.5%) HP:0002797
28 arthralgia occasional (7.5%) HP:0002829
29 myalgia occasional (7.5%) HP:0003326
30 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
31 bone marrow hypocellularity occasional (7.5%) HP:0005528

Drugs & Therapeutics for Systemic Mastocytosis

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Drug clinical trials:

Search ClinicalTrials for Systemic Mastocytosis

Search NIH Clinical Center for Systemic Mastocytosis

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Systemic Mastocytosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Systemic Mastocytosis:
Peripheral blood-derived hematopoietic stem cells for treatment of systemic mastocytosis
Embryonic/Adult Cultured Cells Related to Systemic Mastocytosis:
Peripheral blood-derived hematopoietic stem cells (family), PMID: 10498605

Genetic Tests for Systemic Mastocytosis

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Genetic tests related to Systemic Mastocytosis:

id Genetic test Affiliating Genes
1 Mast Cell Leukemia24

Anatomical Context for Systemic Mastocytosis

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MalaCards organs/tissues related to Systemic Mastocytosis:

33
Bone, Bone marrow, Skin, Myeloid, Liver, T cells, B cells, Lymph node, Spleen, Brain, Heart, Small intestine, Colon, Lung, Breast, Ovary, B lymphoblasts

Animal Models for Systemic Mastocytosis or affiliated genes

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MGI Mouse Phenotypes related to Systemic Mastocytosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0MS4A1, KIT, KITLG, CD5, FCER2
2MP:00053977.7CD5, KITLG, KIT, MS4A1, FCER2

Publications for Systemic Mastocytosis

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Articles related to Systemic Mastocytosis:

(show top 50)    (show all 543)
idTitleAuthorsYear
1
Systemic mastocytosis presenting as IgE-mediated food-induced anaphylaxis: a report of two cases. (25687289)
2015
2
Mast Cells in Systemic Mastocytosis Have Distinctly Brighter CD45 Expression by Flow Cytometry. (25780004)
2015
3
Rapid skeletal turnover in radiographic mimic of osteopetrosis might be secondary to systemic mastocytosis. (25639963)
2015
4
Orbital Involvement in Systemic Mastocytosis. (24410676)
2014
5
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease (SM-AHNMD) in an infant patient. (25099159)
2014
6
Omalizumab Induced Remission of Idiopathic Anaphylaxis in a Patient Suffering from Indolent Systemic Mastocytosis. (24162824)
2013
7
Systemic mastocytosis - the importance of looking within bone marrow fragments. (24123109)
2013
8
Guidelines and diagnostic algorithm for patients with suspected systemic mastocytosis: a proposal of the Austrian competence network (AUCNM). (23675567)
2013
9
Systemic mastocytosis presenting as Kounis syndrome. (24267372)
2013
10
Isolated splenomegaly as the only presentation of systemic mastocytosis. (23604430)
2013
11
KIT GNNK splice variants: expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cells. (23743299)
2013
12
Advanced systemic mastocytosis: the impact of KIT mutations in diagnosis, treatment, and progression. (23181448)
2013
13
Anaesthetic management of emergency caesarean section in a parturient with systemic mastocytosis. (23707036)
2013
14
Systemic mastocytosis: disease overview, pathogenesis, and treatment. (23009941)
2012
15
Smouldering systemic mastocytosis presenting with cryptic life-threatening crises: case report and literature review. (22408224)
2012
16
Severe life-threatening or disabling anaphylaxis in patients with systemic mastocytosis: a single-center experience. (22123213)
2012
17
Systemic mastocytosis with associated clonal hematologic nonmast cell lineage disease: a clinicopathologic review. (22742558)
2012
18
Complete response after imatinib mesylate therapy in a patient with well-differentiated systemic mastocytosis. (22370312)
2012
19
Current approaches to the diagnosis and treatment of systemic mastocytosis. (20143640)
2010
20
Treatment of aggressive systemic mastocytosis with daclizumab. (20038223)
2010
21
Utility of the World Heath Organization classification criteria for the diagnosis of systemic mastocytosis in bone marrow. (19116630)
2009
22
Systemic mastocytosis presenting as osteoporosis--a case report. (19305945)
2009
23
How we diagnose and treat WHO-defined systemic mastocytosis in adults. (18166778)
2008
24
A pilot study of nonmyeloablative allogeneic hematopoietic stem cell transplant for advanced systemic mastocytosis. (16400343)
2006
25
Interferon treatment for hypereosinophilic syndromes and systemic mastocytosis. (15995323)
2005
26
Systemic mastocytosis]. (16334197)
2005
27
Bone marrow biopsies for the diagnosis of systemic mastocytosis: is one biopsy sufficient? (14983941)
2004
28
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. (14687620)
2004
29
Multiple life-threatening fainting episodes: fatal systemic mastocytosis. (14719479)
2003
30
Comment on systemic mastocytosis study. (12716379)
2003
31
Systemic Mastocytosis. (12521570)
2003
32
Stem cell factor-induced bone marrow mast cell hyperplasia mimicking systemic mastocytosis (SM): histopathologic and morphologic evaluation with special reference to recently established SM-criteria. (12002761)
2002
33
Effect of granulocyte macrophage colony-stimulating factor in a patient with benign systemic mastocytosis. (11703299)
2001
34
Pathologic quiz case. Systemic mastocytosis. (10747334)
2000
35
Hematologic aspects of systemic mastocytosis. (10909040)
2000
36
Gastrointestinal abnormalities and involvement in systemic mastocytosis. (10909042)
2000
37
The effect of pamidronate on lumbar spine bone density and pain in osteoporosis secondary to systemic mastocytosis. (9133977)
1997
38
Successful treatment of osteoporosis in systemic mastocytosis with interferon alpha-2b. (8605279)
1996
39
Pulmonary and ovarian manifestations of systemic mastocytosis. (8610583)
1996
40
Anti-interferon-gamma antibodies in a patient undergoing interferon-gamma treatment for systemic mastocytosis. (8836917)
1996
41
A fatal case of portal hypertension complicating systemic mastocytosis in an adolescent. (8529680)
1995
42
Systemic mastocytosis: a diagnostic challenge. (7749967)
1995
43
Anaphylactoid shock following Hymenoptera sting as a presenting symptom of systemic mastocytosis. (8450293)
1993
44
Portal hypertension and ascites in systemic mastocytosis. (2608581)
1989
45
Treatment of adult systemic mastocytosis with a PAF-acether antagonist BN52063. (2898694)
1988
46
Hypotensive attacks due to systemic mastocytosis. (3591218)
1987
47
Osteopenia in systemic mastocytosis: natural history and responses to treatment with inhibitors of bone resorption. (3606906)
1987
48
Effects of isoprenaline and terbutaline on urinary excretion of histamine and its two main metabolites in systemic mastocytosis. (3728212)
1986
49
Failure of sulfites to produce clinical responses in patients with systemic mastocytosis or recurrent anaphylaxis: results of a single-blind study. (3905921)
1985
50
Secretory diarrhea and prostaglandin D2 overproduction in systemic mastocytosis. (6953312)
1982

Variations for Systemic Mastocytosis

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Expression for genes affiliated with Systemic Mastocytosis

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Search GEO for disease gene expression data for Systemic Mastocytosis.

Pathways for genes affiliated with Systemic Mastocytosis

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Pathways related to Systemic Mastocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7KITLG, KIT
29.7KITLG, KIT
3
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
9.7KIT, KITLG
49.2IFNA2, KIT, KITLG
5
Show member pathways
9.1KITLG, KIT, FCER2
6
Show member pathways
8.9KIT, KITLG, CD2
7
Show member pathways
8.9KIT, KITLG, CD2
8
Show member pathways
8.4CD2, KITLG, KIT, IFNA2
9
Show member pathways
7.8FCER2, IFNA2, KIT, KITLG, CD2
107.2CD5, CD2, KITLG, KIT, MS4A1, FCER2

Compounds for genes affiliated with Systemic Mastocytosis

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Sources:
45Novoseek, 51PharmGKB, 13DrugBank, 30IUPHAR, 26HMDB
See all sources

Compounds related to Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid4510.1KITLG, KIT
2ag-12964510.1KIT, KITLG
3su54164510.1KITLG, KIT
4toluidine4510.1KITLG, KIT
5rhodamine 12345 5111.1KITLG, KIT
6methylcellulose4510.0KITLG, KIT
7filgrastim45 1311.0IFNA2, KITLG
8hematoxylin459.9MS4A1, KIT
9zidovudine45 51 1311.8KITLG, IFNA2
10carboplatin45 51 1311.8KITLG, IFNA2
11gp 130459.8KITLG, KIT
12polyethylene glycol459.8KITLG, IFNA2
13salbutamol45 51 30 26 1313.8FCER2, KITLG
14rituximab45 51 1311.8IFNA2, MS4A1
15neopterin459.7IFNA2, FCER2
16hydroxyurea45 51 1311.6IFNA2, KIT, KITLG
17cytarabine45 51 1311.6KITLG, KIT, IFNA2
18gold459.6KITLG, KIT, IFNA2
19agarose459.6IFNA2, KIT, KITLG
20prednisolone45 30 1311.6KITLG, IFNA2
215fluorouracil459.6KITLG, KIT, IFNA2
22ribonucleic acid459.6IFNA2, KIT, KITLG
23doxorubicin45 51 1311.6KITLG, KIT, IFNA2
24galactose459.5FCER2, IFNA2
25con a459.5CD2, IFNA2
26nucleoside459.5KITLG, IFNA2
27cyclophosphamide45 51 1311.5KITLG, IFNA2, MS4A1
28lactate459.4FCER2, KIT, KITLG
29vincristine45 51 1311.3KIT, IFNA2
30cycloheximide459.3FCER2, KIT, KITLG
31steroid459.3KITLG, KIT, IFNA2
32superoxide45 2610.3KITLG, IFNA2, FCER2
33latex459.2KITLG, CD2
34histamine45 30 2611.0FCER2, IFNA2, KIT, KITLG
35retinoic acid45 2610.0KITLG, KIT, IFNA2, FCER2
36glucose458.8IFNA2, KIT, KITLG, CD2
37lipid458.6CD2, KITLG, IFNA2, MS4A1
38paraffin458.5CD5, KITLG, KIT, MS4A1, FCER2
39thymidine45 269.2FCER2, IFNA2, KIT, KITLG, CD2
40tyrosine457.7FCER2, IFNA2, KIT, KITLG, CD2, CD5
41calcium45 51 26 1310.6FCER2, MS4A1, KIT, KITLG, CD2, CD5

GO Terms for genes affiliated with Systemic Mastocytosis

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Cellular components related to Systemic Mastocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:00098989.0CD2, KIT
2extracellular spaceGO:00056158.7KITLG, MS4A1, IFNA2, KIT
3integral component of plasma membraneGO:00058877.9FCER2, MS4A1, CD2, CD5
4plasma membraneGO:00058867.7FCER2, KIT, KITLG, CD2, CD5
5external side of plasma membraneGO:00098977.7MS4A1, CD5, CD2, KIT, FCER2

Biological processes related to Systemic Mastocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ectopic germ cell programmed cell deathGO:00352349.8KITLG, KIT
2embryonic hemopoiesisGO:00351629.7KITLG, KIT
3positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.5IFNA2, KIT
4male gonad developmentGO:00085849.4KITLG, KIT
5innate immune responseGO:00450879.2KITLG, KIT, IFNA2

Products for genes affiliated with Systemic Mastocytosis

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Sources for Systemic Mastocytosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet