SMCD
MCID: SYS004
MIFTS: 59

Systemic Mastocytosis (SMCD) malady

Genetic diseases, Rare diseases, Cancer diseases, Blood diseases, Skin diseases, Immune diseases categories
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Summaries for Systemic Mastocytosis

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NIH Rare Diseases:42 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 smcd - systemic mast cell disease, is related to mastocytosis and urticaria, and has symptoms including 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 Kit Receptor Signaling Pathway and C-MYB transcription factor network. 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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Systemic Mastocytosis, Aliases & Descriptions:

Name: Systemic Mastocytosis 30 8 42 10
Smcd - Systemic Mast Cell Disease 8 62
Systemic Tissue Mast Cell Disease 8 62
Indolent Systemic Mastocytosis 42 62
Mast Cell Leukemia 42 22
Systemic Mastocytosis with Associated Hemotologic Non-Mast Cell Lineage Disease 42
Corneal Dystrophy, Subepithelial Mucinous 62
Agressive Systemic Mastocytosis 42
 
Systemic Mast Cell Disease 42
Systemic Mast-Cell Disease 62
Mastocytosis, Systemic 62
Mastocytosis Systemic 44
Leukemia, Mast-Cell 62
Mast-Cell Leukemia 10
Leukemia Mast Cell 44
Smcd 42


Classifications:



External Ids:

Disease Ontology8 DOID:349
MeSH34 D034721
NCIt39 C9235
ICD1025 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 134)
idRelated DiseaseScoreTop Affiliating Genes
1mastocytosis31.7CD2, KITLG, KIT, IFNA2
2urticaria31.3FCER2
3urticaria pigmentosa31.2KIT, KITLG
4myelofibrosis31.0IFNA2
5mast cell neoplasm30.4KIT, KITLG
6myelodysplastic syndromes30.4KIT, KITLG
7myeloma30.4KITLG, IFNA2, FCER2
8sarcoma30.4KITLG, KIT, FCER2
9thrombocytosis30.3KITLG, IFNA2
10eosinophilia30.3CD2, IFNA2, FCER2
11chronic lymphocytic leukemia30.1FCER2, MS4A1, CD5
12b-cell lymphomas30.1CD5, MS4A1, FCER2
13leukemia30.1FCER2, IFNA2, KIT, KITLG, CD2, CD5
14melanoma29.6IFNA2, KIT, KITLG, CD2
15indolent systemic mastocytosis10.8
16aggressive systemic mastocytosis10.8
17osteoporosis10.6
18acute myeloid leukemia10.6
19myeloid leukemia10.6
20sm-ahnmd10.5
21mast-cell leukemia10.5
22macroglobulinemia10.4CD5
23chronic myelomonocytic leukemia10.4
24hypertension10.4
25portal hypertension10.4
26smouldering systemic mastocytosis10.4
27kidney cancer10.4IFNA2
28bronchiolitis10.3FCER2
29subepithelial mucinous corneal dystrophy10.3
30piebaldism10.3KITLG, KIT
31dysgerminoma10.3KITLG, KIT
32classic mast cell leukemia10.3
33refractory anemia10.3KIT, KITLG
34pdgfrb-associated chronic eosinophilic leukemia10.3KITLG, KIT
35neurofibroma10.3KITLG, KIT
36leukemia, acute lymphoblastic 310.3KIT, KITLG
37thymus cancer10.3KIT, CD5
38neurofibromatosis10.3KIT, KITLG
39gastrointestinal stromal tumor10.2KITLG, KIT
40hematopoietic stem cell transplantation10.2
41diarrhea10.2
42pancreatitis10.2
43hypereosinophilic syndrome10.2
44syncope10.2
45systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease10.2
46factor vii deficiency10.2IFNA2, KIT
47cryoglobulinemic vasculitis10.2IFNA2, CD5
48cryoglobulinemia10.2CD5, IFNA2
49seminoma10.2KIT, KITLG
50hairy cell leukemia10.2IFNA2, CD5

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



Diseases related to systemic mastocytosis

Symptoms for Systemic Mastocytosis

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HPO human phenotypes related to Systemic Mastocytosis:

(show all 30)
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 skin rash typical (50%) HP:0000988
9 thrombocytopenia typical (50%) HP:0001873
10 leukopenia typical (50%) HP:0001882
11 anemia typical (50%) HP:0001903
12 reduced bone mineral density typical (50%) HP:0004349
13 impaired temperature sensation typical (50%) HP:0010829
14 increased bone mineral density typical (50%) HP:0011001
15 cirrhosis occasional (7.5%) HP:0001394
16 portal hypertension occasional (7.5%) HP:0001409
17 ascites occasional (7.5%) HP:0001541
18 sudden cardiac death occasional (7.5%) HP:0001645
19 splenomegaly occasional (7.5%) HP:0001744
20 asthma occasional (7.5%) HP:0002099
21 hepatomegaly occasional (7.5%) HP:0002240
22 acute leukemia occasional (7.5%) HP:0002488
23 bone pain occasional (7.5%) HP:0002653
24 lymphadenopathy occasional (7.5%) HP:0002716
25 recurrent fractures occasional (7.5%) HP:0002757
26 osteolysis occasional (7.5%) HP:0002797
27 arthralgia occasional (7.5%) HP:0002829
28 myalgia occasional (7.5%) HP:0003326
29 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
30 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 Leukemia22

Anatomical Context for Systemic Mastocytosis

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MalaCards organs/tissues related to Systemic Mastocytosis:

32
Bone, Bone marrow, Skin, Myeloid, Liver, T cells, B cells, Lymph node, Spleen, Brain, Heart, Small intestine, Lung, Breast, Ovary, B lymphoblasts

Animal Models for Systemic Mastocytosis or affiliated genes

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MGI Mouse Phenotypes related to Systemic Mastocytosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0FCER2, MS4A1, KIT, KITLG, CD5
2MP:00053977.7FCER2, MS4A1, KIT, KITLG, CD5

Publications for Systemic Mastocytosis

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Articles related to Systemic Mastocytosis:

(show top 50)    (show all 525)
idTitleAuthorsYear
1
Orbital Involvement in Systemic Mastocytosis. (24410676)
2014
2
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease (SM-AHNMD) in an infant patient. (25099159)
2014
3
Omalizumab Induced Remission of Idiopathic Anaphylaxis in a Patient Suffering from Indolent Systemic Mastocytosis. (24162824)
2013
4
Systemic mastocytosis - the importance of looking within bone marrow fragments. (24123109)
2013
5
Guidelines and diagnostic algorithm for patients with suspected systemic mastocytosis: a proposal of the Austrian competence network (AUCNM). (23675567)
2013
6
Systemic mastocytosis presenting as Kounis syndrome. (24267372)
2013
7
Isolated splenomegaly as the only presentation of systemic mastocytosis. (23604430)
2013
8
KIT GNNK splice variants: expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cells. (23743299)
2013
9
Advanced systemic mastocytosis: the impact of KIT mutations in diagnosis, treatment, and progression. (23181448)
2013
10
Anaesthetic management of emergency caesarean section in a parturient with systemic mastocytosis. (23707036)
2013
11
KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis. (23587333)
2013
12
Systemic mastocytosis: disease overview, pathogenesis, and treatment. (23009941)
2012
13
Smouldering systemic mastocytosis presenting with cryptic life-threatening crises: case report and literature review. (22408224)
2012
14
Severe life-threatening or disabling anaphylaxis in patients with systemic mastocytosis: a single-center experience. (22123213)
2012
15
Systemic mastocytosis with associated clonal hematologic nonmast cell lineage disease: a clinicopathologic review. (22742558)
2012
16
Complete response after imatinib mesylate therapy in a patient with well-differentiated systemic mastocytosis. (22370312)
2012
17
Current approaches to the diagnosis and treatment of systemic mastocytosis. (20143640)
2010
18
Treatment of aggressive systemic mastocytosis with daclizumab. (20038223)
2010
19
Utility of the World Heath Organization classification criteria for the diagnosis of systemic mastocytosis in bone marrow. (19116630)
2009
20
Systemic mastocytosis presenting as osteoporosis--a case report. (19305945)
2009
21
Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. (19262599)
2009
22
How we diagnose and treat WHO-defined systemic mastocytosis in adults. (18166778)
2008
23
A pilot study of nonmyeloablative allogeneic hematopoietic stem cell transplant for advanced systemic mastocytosis. (16400343)
2006
24
Interferon treatment for hypereosinophilic syndromes and systemic mastocytosis. (15995323)
2005
25
Systemic mastocytosis]. (16334197)
2005
26
Bone marrow biopsies for the diagnosis of systemic mastocytosis: is one biopsy sufficient? (14983941)
2004
27
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. (14687620)
2004
28
Multiple life-threatening fainting episodes: fatal systemic mastocytosis. (14719479)
2003
29
Comment on systemic mastocytosis study. (12716379)
2003
30
Systemic Mastocytosis. (12521570)
2003
31
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
32
Effect of granulocyte macrophage colony-stimulating factor in a patient with benign systemic mastocytosis. (11703299)
2001
33
Progressive neurological signs associated with systemic mastocytosis in a dog. (11256278)
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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Expression patterns in normal tissues for genes affiliated with Systemic Mastocytosis

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
1
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.7KITLG, KIT
29.7KITLG, KIT
39.7KITLG, KIT
49.2KITLG, KIT, IFNA2
5
Show member pathways
9.1KITLG, KIT, FCER2
6
Show member pathways
8.9KITLG, CD2, KIT
7
Show member pathways
8.9KITLG, CD2, KIT
8
Show member pathways
8.4CD2, KITLG, KIT, IFNA2
9
Show member pathways
7.8KITLG, CD2, IFNA2, FCER2, KIT
107.2FCER2, MS4A1, KIT, KITLG, CD2, CD5

Compounds for genes affiliated with Systemic Mastocytosis

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB
See all sources

Compounds related to Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid4410.1KITLG, KIT
2ag-12964410.1KIT, KITLG
3su54164410.1KITLG, KIT
4toluidine4410.1KITLG, KIT
5rhodamine 12344 5011.1KIT, KITLG
6methylcellulose4410.0KIT, KITLG
7filgrastim44 1111.0IFNA2, KITLG
8hematoxylin449.9MS4A1, KIT
9zidovudine44 50 1111.8KITLG, IFNA2
10carboplatin44 50 1111.8KITLG, IFNA2
11gp 130449.8KIT, KITLG
12polyethylene glycol449.8IFNA2, KITLG
13salbutamol44 50 28 24 1113.8KITLG, FCER2
14rituximab44 50 1111.8IFNA2, MS4A1
15neopterin449.7FCER2, IFNA2
16hydroxyurea44 50 1111.6IFNA2, KIT, KITLG
17cytarabine44 50 1111.6IFNA2, KIT, KITLG
18gold449.6KITLG, KIT, IFNA2
19agarose449.6KITLG, IFNA2, KIT
20prednisolone44 28 1111.6IFNA2, KITLG
215fluorouracil449.6IFNA2, KIT, KITLG
22ribonucleic acid449.6KITLG, KIT, IFNA2
23doxorubicin44 50 1111.6KITLG, IFNA2, KIT
24galactose449.5FCER2, IFNA2
25con a449.5IFNA2, CD2
26nucleoside449.5IFNA2, KITLG
27cyclophosphamide44 50 1111.5KITLG, MS4A1, IFNA2
28lactate449.4KITLG, KIT, FCER2
29vincristine44 50 1111.3KIT, IFNA2
30cycloheximide449.3KIT, FCER2, KITLG
31steroid449.3IFNA2, KIT, KITLG
32superoxide44 2410.3IFNA2, FCER2, KITLG
33latex449.2CD2, KITLG
34histamine44 28 2411.0IFNA2, KIT, FCER2, KITLG
35retinoic acid44 2410.0IFNA2, KITLG, KIT, FCER2
36glucose448.8CD2, KIT, IFNA2, KITLG
37lipid448.6MS4A1, IFNA2, KITLG, CD2
38paraffin448.5CD5, KITLG, KIT, MS4A1, FCER2
39thymidine44 249.2KITLG, KIT, CD2, IFNA2, FCER2
40tyrosine447.7FCER2, IFNA2, CD5, KITLG, KIT, CD2
41calcium44 50 24 1110.6CD5, MS4A1, CD2, KITLG, FCER2, KIT

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:0098989.0CD2, KIT
2extracellular spaceGO:0056158.7KITLG, MS4A1, IFNA2, KIT
3integral component of plasma membraneGO:0058877.9FCER2, MS4A1, CD2, CD5
4plasma membraneGO:0058867.7FCER2, KIT, KITLG, CD2, CD5
5external side of plasma membraneGO:0098977.7MS4A1, CD5, CD2, KIT, FCER2

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

idNameGO IDScoreTop Affiliating Genes
1ectopic germ cell programmed cell deathGO:0352349.8KITLG, KIT
2embryonic hemopoiesisGO:0351629.7KITLG, KIT
3positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.5IFNA2, KIT
4male gonad developmentGO:0085849.4KITLG, KIT
5innate immune responseGO:0450879.2KITLG, KIT, IFNA2

Products for genes affiliated with Systemic Mastocytosis

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Sources for Systemic Mastocytosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet