SMCD
MCID: SYS004
MIFTS: 66

Systemic Mastocytosis (SMCD) malady

Genetic diseases, Rare diseases, Blood diseases, Cancer diseases, Skin diseases, Immune diseases categories

Summaries for Systemic Mastocytosis

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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: Systemic Mastocytosis, also known as mast cell leukemia, is related to mastocytosis and leukemia, and has symptoms including mutiple fractures/bone fragility, osteolysis/osteoclasia/bone destruction/erosions and bone pain. 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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9Disease Ontology, 44NIH Rare Diseases, 23GTR, 11DISEASES, 46Novoseek, 50Orphanet, 32LifeMap Discovery™, 63UMLS, 41NCIt, 59SNOMED-CT, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
systemic mastocytosis:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age
mast cell leukemia:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

systemic mastocytosis 9 44 11 50 32
mast cell leukemia 44 23 50
indolent systemic mastocytosis 44 63
systemic mastocytosis with associated hemotologic non-mast cell lineage disease 44
corneal dystrophy, subepithelial mucinous 63
smcd - systemic mast cell disease 9
systemic tissue mast cell disease 9
agressive systemic mastocytosis 44
systemic mast cell disease 44
mastocytosis, systemic 63
mastocytosis systemic 46
leukemia, mast-cell 63
mast-cell leukemia 11
leukemia mast cell 46
mast cell disease 50
smcd 44


External Ids:

Disease Ontology9 DOID:349
NCIt41 C9235
MeSH36 D034721
MESH via Orphanet37 D034721, D007946
ICD10 via Orphanet27 C96.2, C94.3
SNOMED-CT via Orphanet60 397016004, 110002002, 128924002
UMLS via Orphanet64 C0221013, C0023461

Related Diseases for Systemic Mastocytosis

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18GeneCards, 19GeneDecks
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Diseases in the Systemic Mastocytosis family:

Mastocytosis

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

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1mastocytosis31.9CD2, KITLG, KIT, IFNA2
2leukemia30.9FCER2, IFNA2, KIT, KITLG, CD2, CD5
3urticaria30.9FCER2
4urticaria pigmentosa30.8KIT, KITLG
5mast-cell leukemia30.8KITLG, KIT
6chronic myelomonocytic leukemia30.5KITLG, KIT
7myelofibrosis30.5IFNA2
8eosinophilia30.4CD2, IFNA2, FCER2
9myeloma30.4KITLG, IFNA2, FCER2
10myelodysplastic syndromes30.3KIT, KITLG
11myeloproliferative disorder30.3KITLG, KIT, IFNA2
12sarcoma30.2KITLG, KIT, FCER2
13chronic lymphocytic leukemia30.2FCER2, MS4A1, CD5
14b-cell lymphomas30.2CD5, MS4A1, FCER2
15mast cell neoplasm30.1KIT, KITLG
16thrombocytosis30.1KITLG, IFNA2
17melanoma29.9IFNA2, KIT, KITLG, CD2
18indolent systemic mastocytosis10.8
19aggressive systemic mastocytosis10.7
20osteoporosis10.6
21acute myeloid leukemia10.6
22myeloid leukemia10.6
23sm-ahnmd10.4
24smouldering systemic mastocytosis10.3
25portal hypertension10.3
26hypertension10.3
27cutaneous mastocytosis10.3
28classic mast cell leukemia10.3
29diarrhea10.2
30hypereosinophilic syndrome10.2
31syncope10.2
32subepithelial mucinous corneal dystrophy10.2
33microphthalmia10.2
34cholangitis10.1
35cholestasis10.1
36disseminated intravascular coagulation10.1
37histiocytosis10.1
38inflammatory bowel disease10.1
39pancreatitis10.1
40headache10.1
41germ cell tumors10.1
42blindness10.1
43isolated bone marrow mastocytosis10.1
44hematopoietic stem cell transplantation10.1
45systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease10.1
46monocytic leukemia10.1
47back pain10.1
48acute basophilic leukemia10.1
49splenic infarction10.1
50osteopetrosis10.1

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



Diseases related to systemic mastocytosis

Symptoms for Systemic Mastocytosis

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50Orphanet
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Symptoms:

50 (show all 34)
  • mutiple fractures/bone fragility
  • osteolysis/osteoclasia/bone destruction/erosions
  • bone pain
  • articular/joint pain/arthralgia
  • bone marrow failure/pancytopenia
  • acute leukemia
  • myeloproliferative syndrome/chronic leukemia
  • anomalies of the hematological system
  • myalgia/muscular pain
  • lymphadenopathy/polyadenopathies
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • osteosclerosis/osteopetrosis/bone condensation
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • cutaneous rash
  • mastocytosis
  • eosinophils anomalies/hypereosinophilia
  • severe allergic reaction/atopy
  • facial pain/cephalalgia/migraine
  • malabsorption/chronic diarrhea/steatorrhea
  • acute abdominal pain/colic
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • anaemia
  • leukopenia/hypoleukocytosis
  • cardiac rhythm disorder/arrhythmia
  • asthma/bronchospasm
  • splenomegaly
  • portal hypertension
  • hepatomegaly/liver enlargement (excluding storage disease)
  • cirrhosis
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • ascitis
  • hot flushes/sensation of cold
  • thrombocytopenia/thrombopenia
  • urticaria

Drugs & Therapeutics for Systemic Mastocytosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Systemic Mastocytosis

Drug clinical trials:

Search ClinicalTrials for Systemic Mastocytosis

Search NIH Clinical Center for Systemic Mastocytosis

Search CenterWatch 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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23GTR
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Genetic tests related to Systemic Mastocytosis:

id Genetic test Affiliating Genes
1 Mast Cell Leukemia23

Anatomical Context for Systemic Mastocytosis

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34MalaCards
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MalaCards organs/tissues related to Systemic Mastocytosis:

34
Bone, Bone marrow, Skin, Myeloid, Liver, T cells, B cells, Brain, Lymph node, Spleen, Heart, Small intestine, Lung, Breast, Ovary, B lymphoblasts

Animal Models for Systemic Mastocytosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Systemic Mastocytosis:

38
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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53PubMed
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Articles related to Systemic Mastocytosis:

(show top 50)    (show all 499)
idTitleAuthorsYear
1
Orbital Involvement in Systemic Mastocytosis. (24410676)
2014
2
Adult-onset mastocytosis in the skin is highly suggestive of systemic mastocytosis. (23807778)
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 39NCBI BioSystems Database, 54QIAGEN, 31KEGG
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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)39
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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46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB
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Compounds related to Systemic Mastocytosis according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid4610.1KITLG, KIT
2ag-12964610.1KIT, KITLG
3su54164610.1KITLG, KIT
4toluidine4610.1KITLG, KIT
5rhodamine 12346 5211.1KITLG, KIT
6methylcellulose4610.0KITLG, KIT
7filgrastim46 1211.0IFNA2, KITLG
8hematoxylin469.9MS4A1, KIT
9zidovudine46 52 1211.8KITLG, IFNA2
10carboplatin46 52 1211.8KITLG, IFNA2
11gp 130469.8KITLG, KIT
12polyethylene glycol469.8KITLG, IFNA2
13salbutamol46 52 30 25 1213.8FCER2, KITLG
14rituximab46 52 1211.8IFNA2, MS4A1
15neopterin469.7IFNA2, FCER2
16hydroxyurea46 52 1211.6IFNA2, KIT, KITLG
17cytarabine46 52 1211.6KITLG, KIT, IFNA2
18gold469.6KITLG, KIT, IFNA2
19agarose469.6IFNA2, KIT, KITLG
20prednisolone46 30 1211.6KITLG, IFNA2
215fluorouracil469.6KITLG, KIT, IFNA2
22ribonucleic acid469.6IFNA2, KIT, KITLG
23doxorubicin46 52 1211.6KITLG, KIT, IFNA2
24galactose469.5FCER2, IFNA2
25con a469.5CD2, IFNA2
26nucleoside469.5KITLG, IFNA2
27cyclophosphamide46 52 1211.5KITLG, IFNA2, MS4A1
28lactate469.4FCER2, KIT, KITLG
29vincristine46 52 1211.3KIT, IFNA2
30cycloheximide469.3FCER2, KIT, KITLG
31steroid469.3KITLG, KIT, IFNA2
32superoxide46 2510.3KITLG, IFNA2, FCER2
33latex469.2KITLG, CD2
34histamine46 30 2511.0FCER2, IFNA2, KIT, KITLG
35retinoic acid46 2510.0KITLG, KIT, IFNA2, FCER2
36glucose468.8IFNA2, KIT, KITLG, CD2
37lipid468.6CD2, KITLG, IFNA2, MS4A1
38paraffin468.5CD5, KITLG, KIT, MS4A1, FCER2
39thymidine46 259.2FCER2, IFNA2, KIT, KITLG, CD2
40tyrosine467.7FCER2, IFNA2, KIT, KITLG, CD2, CD5
41calcium46 52 25 1210.6FCER2, MS4A1, KIT, KITLG, CD2, CD5

GO Terms for genes affiliated with Systemic Mastocytosis

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17Gene Ontology
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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:0056158.7MS4A1, IFNA2, KIT, KITLG
3integral component of plasma membraneGO:0058877.9FCER2, MS4A1, CD2, CD5
4plasma membraneGO:0058867.7CD5, CD2, KITLG, KIT, FCER2
5external side of plasma membraneGO:0098977.7CD5, CD2, KIT, MS4A1, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet