MCID: MST009
MIFTS: 75

Mastocytosis malady

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

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NIH Rare Diseases:42 Mastocytosis is a disorder that can occur in both children and adults. it is caused by the presence of too many mast cells in the body. mast cells contain substances such as histamine that regulate allergic reactions. signs and symptoms of mastocytosis may include musculoskeletal pain, abdominal discomfort, nausea, vomiting, ulcers, diarrhea, and skin lesions. treatment may include medications such as antihistamines (to prevent the effect of mast cell histamine) and anticholinergics (to relieve intestinal cramping).there are two broad categories of mastocytosis, cutaneous and systemic. cutaneous mastocytosis only affects the skin and is usually diagnosed in children. systemic mastocytosis affects more than one part of the body and is usually diagnosed in adults. gard provides additional information on cutaneous mastocytosis and systemic mastocytosis. last updated: 1/16/2013

MalaCards based summary: Mastocytosis, also known as mast cell disease, is related to systemic mastocytosis and urticaria pigmentosa, and has symptoms including macules, follicular/erythematous/edematous papules/milium and pruritus/itching. An important gene associated with Mastocytosis is KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), and among its related pathways are Melanocyte Development and Pigmentation and Cardiac Progenitor Differentiation. The drugs cromolyn sodium and cromolyn and the compounds monochloroacetic acid and mizoribine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related mouse phenotypes are pigmentation and no phenotypic analysis.

Wikipedia:65 Mastocytosis, one of the mast cell diseases, is a rare disorder of both children and adults caused by... more...

Description from OMIM:46 154800

Aliases & Classifications for Mastocytosis

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Mastocytosis, Aliases & Descriptions:

Name: Mastocytosis 42 22 10 44
Mast Cell Disease 42 20 46
Maculopapular Cutaneous Mastocytosis 48 62
 
Urticaria Pigmentosa 48 62
Mast Cell Neoplasm 62
Mast-Cell Disease 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
maculopapular cutaneous mastocytosis:
Inheritance: Sporadic; Age of onset: Variable; Age of death: Normal


External Ids:

OMIM46 154800
MESH via Orphanet35 D014582
ICD10 via Orphanet26 Q82.2
UMLS via Orphanet63 C0042111
ICD1025 Q82.2

Related Diseases for Mastocytosis

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Diseases in the Mastocytosis family:

Systemic Mastocytosis

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

(show top 50)    (show all 212)
idRelated DiseaseScoreTop Affiliating Genes
1systemic mastocytosis32.4KIT, KITLG
2urticaria pigmentosa31.6KITLG, KIT
3mast cell neoplasm30.3KIT, KITLG, HDC
4hypereosinophilic syndrome30.3PDGFRA, PDGFRB, KIT
5uveitis30.3IFNA2, IL2RA
6gastrointestinal stromal tumor30.2KIT, PDGFRA
7splenomegaly30.2IL2RA, IFNA2
8thrombocytosis30.2KITLG, IFNA2
9myelofibrosis30.2PDGFRB, PDGFRA, IFNA2
10sarcoma30.1KIT, KITLG, PDGFRB, PDGFRA
11myelodysplastic syndromes30.1KITLG, PDGFRA, PDGFRB, KIT
12piebaldism30.0KIT, KITLG, PDGFRA
13neurofibroma30.0KITLG, PDGFRB, PDGFRA, KIT
14polycythemia vera29.7PDGFRB, KITLG, KIT, IFNA2, PDGFRA
15eosinophilia29.6IL2RA, PDGFRA, PDGFRB, IFNA2, CD2
16leukemia29.6PDGFRB, HDC, PDGFRA, KITLG, CD2, IFNA2
17melanoma29.0IFNA2, PDGFRA, PDGFRB, KIT, KITLG, CD2
18cutaneous mastocytosis11.0
19diffuse cutaneous mastocytosis10.7
20indolent systemic mastocytosis10.7
21urticaria10.7
22aggressive systemic mastocytosis10.6
23osteoporosis10.5
24acute myeloid leukemia10.5
25myeloid leukemia10.5
26mast-cell leukemia10.4
27sm-ahnmd10.4
28dysgerminoma10.3KIT, KITLG
29refractory anemia10.3KIT, KITLG
30kidney cancer10.3IFNA2
31isolated bone marrow mastocytosis10.3
32leukemia, acute lymphoblastic 310.3KIT, KITLG
33factor vii deficiency10.3KIT, IFNA2
34mesenchymal cell neoplasm10.3KIT, PDGFRA
35gamma chain deficiency10.3KITLG, IL2RA
36carney triad10.3PDGFRA, KIT
37neuroendocrine carcinoma10.3KIT, HDC
38sezary's disease10.3IL2RA, IFNA2
39chronic myelomonocytic leukemia10.3
40mastocytosis cutaneous with short stature conductive hearing loss and microtia10.3
4121-hydroxylase deficiency10.3IFNA2, IL2RA
42hairy cell leukemia10.3IL2RA, IFNA2
43malignant peripheral nerve sheath tumor10.2KIT, PDGFRA
44syringoma10.2
45malignant mixed mullerian tumor10.2KIT, PDGFRB
46uterine sarcoma10.2PDGFRB, KIT
47dermatofibrosarcoma protuberans10.2PDGFRB, KIT
48fibromatosis10.2PDGFRB, KIT
49hypertension10.2
50portal hypertension10.2

Graphical network of the top 20 diseases related to Mastocytosis:



Diseases related to mastocytosis

Symptoms for Mastocytosis

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Symptoms by clinical synopsis from OMIM:

154800

Clinical features from OMIM:

154800

Symptoms:

48 (show all 14)
  • macules
  • follicular/erythematous/edematous papules/milium
  • pruritus/itching
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • mastocytosis
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute diarrhea
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • facial pain/cephalalgia/migraine
  • hot flushes/sensation of cold
  • telangiectasiae of the skin

HPO human phenotypes related to Mastocytosis:

(show all 39)
id Description Frequency HPO Source Accession
1 pruritus hallmark (90%) HP:0000989
2 hypermelanotic macule hallmark (90%) HP:0001034
3 mastocytosis hallmark (90%) HP:0100495
4 pruritus hallmark (90%) HP:0000989
5 urticaria hallmark (90%) HP:0001025
6 hypermelanotic macule hallmark (90%) HP:0001034
7 mastocytosis hallmark (90%) HP:0100495
8 sinusitis typical (50%) HP:0000246
9 sudden cardiac death typical (50%) HP:0001645
10 diarrhea typical (50%) HP:0002014
11 nausea and vomiting typical (50%) HP:0002017
12 migraine typical (50%) HP:0002076
13 respiratory insufficiency typical (50%) HP:0002093
14 impaired temperature sensation typical (50%) HP:0010829
15 diarrhea typical (50%) HP:0002014
16 nausea and vomiting typical (50%) HP:0002017
17 abnormal blistering of the skin typical (50%) HP:0008066
18 impaired temperature sensation typical (50%) HP:0010829
19 teleangiectasia of the skin occasional (7.5%) HP:0100585
20 splenomegaly occasional (7.5%) HP:0001744
21 anorexia occasional (7.5%) HP:0002039
22 respiratory insufficiency occasional (7.5%) HP:0002093
23 asthma occasional (7.5%) HP:0002099
24 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
25 hepatomegaly occasional (7.5%) HP:0002240
26 acute leukemia occasional (7.5%) HP:0002488
27 hypotension occasional (7.5%) HP:0002615
28 recurrent fractures occasional (7.5%) HP:0002757
29 hypercalcemia occasional (7.5%) HP:0003072
30 reduced bone mineral density occasional (7.5%) HP:0004349
31 arrhythmia occasional (7.5%) HP:0011675
32 sarcoma occasional (7.5%) HP:0100242
33 teleangiectasia of the skin occasional (7.5%) HP:0100585
34 autosomal dominant inheritance HP:0000006
35 urticaria HP:0001025
36 hypermelanotic macule HP:0001034
37 telangiectasia macularis eruptiva perstans HP:0007583
38 erythema HP:0010783
39 cutaneous mastocytosis HP:0200151

Drugs & Therapeutics for Mastocytosis

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Drug clinical trials:

Search ClinicalTrials for Mastocytosis

Search NIH Clinical Center for Mastocytosis

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Mastocytosis

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Genetic tests related to Mastocytosis:

id Genetic test Affiliating Genes
1 Mast Cell Disease20 KIT
2 Mastocytosis22

Anatomical Context for Mastocytosis

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MalaCards organs/tissues related to Mastocytosis:

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

Animal Models for Mastocytosis or affiliated genes

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Publications for Mastocytosis

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Articles related to Mastocytosis:

(show top 50)    (show all 937)
idTitleAuthorsYear
1
Orbital Involvement in Systemic Mastocytosis. (24410676)
2014
2
Mastocytosis, Kounis syndrome and medical emergencies. (24415350)
2014
3
Mastocytosis and allergic diseases. (25345299)
2014
4
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease (SM-AHNMD) in an infant patient. (25099159)
2014
5
Mastocytosis: a paradigmatic example of a rare disease with complex biology and pathology. (23593539)
2013
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
Cutaneous mastocytosis as a rare differential diagnosis for unilateral chronic facial pain and erythema: a case report. (24171187)
2013
11
Epidermal nevus syndrome with cutaneous mastocytosis. (22681453)
2012
12
Systemic mastocytosis: disease overview, pathogenesis, and treatment. (23009941)
2012
13
Involvement of a common progenitor cell in core binding factor acute myeloid leukaemia associated with mastocytosis. (22871474)
2012
14
Smouldering systemic mastocytosis presenting with cryptic life-threatening crises: case report and literature review. (22408224)
2012
15
Serotonin and its 5-HT1 receptor in human mastocytosis. (22268664)
2012
16
IL-5 receptor I+ levels in patients with marked eosinophilia or mastocytosis. (21762978)
2011
17
Anesthetic experience in a pediatric patient with mastocytosis. (22148097)
2011
18
Apoptosis, mastocytosis, and diminished adipocytokine gene expression accompany reduced epididymal fat mass in long-standing diet-induced obese mice. (22051061)
2011
19
Current approaches to the diagnosis and treatment of systemic mastocytosis. (20143640)
2010
20
Utility of the World Heath Organization classification criteria for the diagnosis of systemic mastocytosis in bone marrow. (19116630)
2009
21
Systemic mastocytosis presenting as osteoporosis--a case report. (19305945)
2009
22
The recent article on 'Mastocytosis and insect venom allergy: diagnosis, safety and efficacy of venom immunotherapy' by Niedoszytko et al. (19824888)
2009
23
Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. (18186813)
2008
24
What's eating you? Bees, Part 2: Venom immunotherapy and mastocytosis. (17725061)
2007
25
Therapeutically relevant mutations in the receptor tyrosine kinase KIT in mastocytosis]. (18314612)
2007
26
A pilot study of nonmyeloablative allogeneic hematopoietic stem cell transplant for advanced systemic mastocytosis. (16400343)
2006
27
Interferon treatment for hypereosinophilic syndromes and systemic mastocytosis. (15995323)
2005
28
Bone marrow biopsies for the diagnosis of systemic mastocytosis: is one biopsy sufficient? (14983941)
2004
29
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. (14687620)
2004
30
Multiple life-threatening fainting episodes: fatal systemic mastocytosis. (14719479)
2003
31
Expression of Bcl-2 and Bcl-xL in cutaneous and bone marrow lesions of mastocytosis. (12937123)
2003
32
Comment on systemic mastocytosis study. (12716379)
2003
33
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
34
Effect of granulocyte macrophage colony-stimulating factor in a patient with benign systemic mastocytosis. (11703299)
2001
35
Pathologic quiz case. Systemic mastocytosis. (10747334)
2000
36
c-Kit and c-kit mutations in mastocytosis and other hematological diseases. (10670573)
2000
37
Hematologic aspects of systemic mastocytosis. (10909040)
2000
38
Gastrointestinal abnormalities and involvement in systemic mastocytosis. (10909042)
2000
39
The effect of pamidronate on lumbar spine bone density and pain in osteoporosis secondary to systemic mastocytosis. (9133977)
1997
40
Successful treatment of osteoporosis in systemic mastocytosis with interferon alpha-2b. (8605279)
1996
41
Cutaneous mastocytosis in a dog. (1514225)
1992
42
Fibrous mastocytoma in a patient with generalized cutaneous mastocytosis. (1375950)
1992
43
Diffuse cutaneous mastocytosis, 22 years on. (2337526)
1990
44
Portal hypertension and ascites in systemic mastocytosis. (2608581)
1989
45
Bronchoalveolar mastocytosis in farmer's lung is related to the disease activity. (3377620)
1988
46
Hypotensive attacks due to systemic mastocytosis. (3591218)
1987
47
Effects of isoprenaline and terbutaline on urinary excretion of histamine and its two main metabolites in systemic mastocytosis. (3728212)
1986
48
Failure of sulfites to produce clinical responses in patients with systemic mastocytosis or recurrent anaphylaxis: results of a single-blind study. (3905921)
1985
49
Secretory diarrhea and prostaglandin D2 overproduction in systemic mastocytosis. (6953312)
1982
50
The isomorphic (Koebner) phenomenon in cutaneous mastocytosis. (6177175)
1981

Variations for Mastocytosis

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Expression for genes affiliated with Mastocytosis

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Expression patterns in normal tissues for genes affiliated with Mastocytosis

Search GEO for disease gene expression data for Mastocytosis.

Pathways for genes affiliated with Mastocytosis

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Pathways related to Mastocytosis according to GeneCards/GeneDecks:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KIT, KITLG
29.6KIT, PDGFRA
39.4IL2RA, KIT, KITLG
49.3PDGFRA, PDGFRB
59.3PDGFRB, PDGFRA
6
Show member pathways
PDGF Pathway37
9.3PDGFRA, PDGFRB
79.2KIT, PDGFRA, IL2RA
8
Show member pathways
9.0KIT, PDGFRB, PDGFRA
9
Show member pathways
9.0KIT, PDGFRB, PDGFRA
108.9PDGFRB, PDGFRA, IL2RA
11
Show member pathways
8.9PDGFRB, PDGFRA, IL2RA
128.7PDGFRA, PDGFRB, KIT, KITLG
13
Show member pathways
8.7PDGFRA, PDGFRB, KIT, KITLG
14
Show member pathways
8.7KITLG, KIT, PDGFRB, PDGFRA
15
Show member pathways
8.7PDGFRA, PDGFRB, KIT, KITLG
168.7KITLG, KIT, PDGFRB, PDGFRA
17
Show member pathways
8.7KITLG, KIT, PDGFRB, PDGFRA
18
Show member pathways
8.7PDGFRA, PDGFRB, KIT, KITLG
19
Show member pathways
8.7PDGFRA, PDGFRB, KIT, KITLG
20
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.7PDGFRA, PDGFRB, KIT, KITLG
218.5IL2RA, KIT, KITLG, CD2
22
Show member pathways
8.2IL2RA, PDGFRA, PDGFRB, KIT, KITLG
238.2IL2RA, PDGFRA, PDGFRB, KIT, KITLG
24
Show member pathways
8.2IL2RA, PDGFRA, PDGFRB, KIT, KITLG
25
Show member pathways
8.2IL2RA, PDGFRA, PDGFRB, KIT, KITLG
26
Show member pathways
8.2IL2RA, PDGFRA, PDGFRB, KIT, KITLG
27
Show member pathways
8.2IL2RA, PDGFRA, PDGFRB, KIT, KITLG
28
Show member pathways
8.2KITLG, KIT, PDGFRB, PDGFRA, IL2RA
297.8IFNA2, IL2RA, PDGFRA, PDGFRB, KIT, KITLG
30
Show member pathways
7.4IL2RA, PDGFRA, PDGFRB, KIT, KITLG, CD2
31
Show member pathways
7.4IL2RA, PDGFRA, PDGFRB, KIT, KITLG, CD2
32
Show member pathways
7.4IL2RA, PDGFRA, PDGFRB, KIT, KITLG, CD2
33
Show member pathways
7.0IFNA2, IL2RA, PDGFRA, PDGFRB, KIT, KITLG
34
Show member pathways
7.0CD2, IFNA2, IL2RA, PDGFRA, PDGFRB, KIT

Compounds for genes affiliated with Mastocytosis

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Compounds related to Mastocytosis according to GeneCards/GeneDecks:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid4410.2KITLG, KIT
2mizoribine4410.0IFNA2, IL2RA
3pentostatin44 61 28 1112.9IL2RA, IFNA2
4su6668449.9KIT, PDGFRB
5zd6474449.8PDGFRB, KIT
6hydroxychloroquine44 1110.8IFNA2, IL2RA
7cytarabine44 50 1111.7KITLG, KIT, IFNA2
8toluidine449.7KITLG, KIT
9dmpq dihydrochloride619.7PDGFRB, PDGFRA
10sunitinib malate619.7PDGFRB, PDGFRA
11su 6668619.7PDGFRA, PDGFRB
12su 16f619.7PDGFRA, PDGFRB
13gold449.6IFNA2, KITLG, KIT
14vincristine44 50 1111.6KIT, IL2RA, IFNA2
15su5416449.6KIT, KITLG, PDGFRB
16agarose449.6KIT, IFNA2, KITLG
17prednisolone44 28 1111.6KITLG, IL2RA, IFNA2
18pkc 412449.4PDGFRB, PDGFRA, KIT
19pazopanib50 1110.4PDGFRB, PDGFRA, KIT
20sunitinib44 50 1111.4KIT, PDGFRB, PDGFRA
21regorafenib50 1110.4PDGFRB, KIT, PDGFRA
22doxorubicin44 50 1111.4KIT, IL2RA, IFNA2, KITLG
23hydroxyurea44 50 1111.3PDGFRA, KIT, KITLG, IFNA2
24megestrol acetate449.3IL2RA, IFNA2
25cyclophosphamide44 50 1111.3IFNA2, IL2RA, KITLG
26con a449.2IFNA2, IL2RA, CD2
27ribonucleic acid449.2KITLG, PDGFRB, IFNA2, KIT
28tgf beta1449.2PDGFRA, PDGFRB, KITLG
29gp 130449.2PDGFRB, KIT, KITLG, IL2RA
30ag-1296449.1PDGFRA, PDGFRB, KIT, KITLG
31paclitaxel44 50 1111.1KITLG, KIT, PDGFRB, IL2RA
32imatinib44 50 1111.1KITLG, KIT, PDGFRB, PDGFRA
33histamine44 28 2411.0HDC, IFNA2, KITLG, IL2RA, KIT
34cisplatin44 50 61 1112.0PDGFRB, KITLG, IL2RA, IFNA2
35calcitriol44 61 24 1111.9PDGFRA, PDGFRB, KITLG, IL2RA
365fluorouracil448.8KIT, PDGFRB, IL2RA, KITLG, IFNA2
37aspartate448.8KIT, IL2RA, HDC, IFNA2, PDGFRA
38testosterone44 61 24 1111.7KITLG, KIT, PDGFRB, IL2RA
39h2o2448.7HDC, IL2RA, PDGFRB, KITLG
40rapamycin448.6PDGFRB, PDGFRA, IL2RA, KIT, KITLG
41paraffin448.6KITLG, PDGFRA, IL2RA, KIT, PDGFRB
42phosphatidylinositol448.6PDGFRA, KITLG, KIT, PDGFRB, IL2RA
43glucose448.3KITLG, KIT, PDGFRB, IFNA2, CD2
44retinoic acid44 249.3PDGFRB, PDGFRA, IFNA2, KIT, KITLG, HDC
45vegf448.3KITLG, IL2RA, PDGFRB, PDGFRA, IFNA2, KIT
46estrogen448.3IL2RA, IFNA2, KITLG, KIT, PDGFRB, PDGFRA
47thymidine44 249.1IL2RA, CD2, KITLG, KIT, PDGFRA, IFNA2
48lipid448.0SLC27A4, IFNA2, PDGFRB, KITLG, CD2
49calcium44 50 24 1110.7KIT, PDGFRA, HDC, KITLG, PDGFRB, CD2
50tyrosine447.1KITLG, KIT, PDGFRB, PDGFRA, IL2RA, IFNA2

GO Terms for genes affiliated with Mastocytosis

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Cellular components related to Mastocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:0098989.3CD2, KIT
2intrinsic component of plasma membraneGO:0312269.0PDGFRB, PDGFRA
3external side of plasma membraneGO:0098978.4CD2, KIT, PDGFRA, IL2RA
4plasma membraneGO:0058866.8IL2RA, PDGFRA, PDGFRB, KIT, KITLG, CD2

Biological processes related to Mastocytosis according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1ectopic germ cell programmed cell deathGO:03523410.1KIT, KITLG
2embryonic hemopoiesisGO:03516210.0KITLG, KIT
3positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.8IFNA2, KIT
4metanephric glomerular capillary formationGO:0722779.7PDGFRA, PDGFRB
5positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:0380919.6PDGFRA, PDGFRB
6retina vasculature development in camera-type eyeGO:0612989.6PDGFRA, PDGFRB
7positive regulation of DNA replicationGO:0457409.6PDGFRA, KITLG
8cardiac myofibril assemblyGO:0550039.6PDGFRB, PDGFRA
9adrenal gland developmentGO:0303259.5PDGFRB, PDGFRA
10platelet-derived growth factor receptor signaling pathwayGO:0480089.4PDGFRA, PDGFRB
11positive regulation of MAP kinase activityGO:0434069.4KITLG, PDGFRB
12positive regulation of phospholipase C activityGO:0108639.4KIT, PDGFRB, PDGFRA
13positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.4KIT, PDGFRB, PDGFRA
14cell chemotaxisGO:0603269.3PDGFRA, PDGFRB, KIT
15positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.3KIT, PDGFRB, PDGFRA
16wound healingGO:0420609.3PDGFRB, PDGFRA
17peptidyl-tyrosine phosphorylationGO:0181089.3KIT, PDGFRB, PDGFRA
18positive regulation of cell migrationGO:0303359.3PDGFRA, PDGFRB, KIT
19protein autophosphorylationGO:0467779.2PDGFRA, PDGFRB, KIT
20cell surface receptor signaling pathwayGO:0071669.0CD2, IL2RA, IFNA2
21phosphatidylinositol-mediated signalingGO:0480159.0PDGFRA, PDGFRB, KIT, KITLG
22fibroblast growth factor receptor signaling pathwayGO:0085439.0PDGFRA, PDGFRB, KIT, KITLG
23Fc-epsilon receptor signaling pathwayGO:0380959.0KITLG, KIT, PDGFRB, PDGFRA
24epidermal growth factor receptor signaling pathwayGO:0071739.0PDGFRA, PDGFRB, KIT, KITLG
25neurotrophin TRK receptor signaling pathwayGO:0480119.0PDGFRA, PDGFRB, KIT, KITLG
26positive regulation of cell proliferationGO:0082848.7KIT, PDGFRB, PDGFRA
27innate immune responseGO:0450878.6KITLG, KIT, PDGFRB, PDGFRA, IFNA2

Molecular functions related to Mastocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase activityGO:0047149.6KIT, PDGFRA
2vascular endothelial growth factor bindingGO:0380859.3PDGFRB, PDGFRA
3platelet-derived growth factor bindingGO:0484079.2PDGFRB, PDGFRA
4platelet-derived growth factor receptor bindingGO:0051619.0PDGFRB, PDGFRA

Products for genes affiliated with Mastocytosis

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  • Antibodies
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Sources for 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