MCID: MST009
MIFTS: 61

Mastocytosis malady

Rare diseases, Blood diseases, Cancer diseases categories

Summaries for Mastocytosis

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NIH Rare Diseases:41 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 urticaria pigmentosa, is related to systemic mastocytosis and urticaria pigmentosa, and has symptoms including pruritus, urticaria and hypermelanotic macule. 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, bone marrow and skin, and related mouse phenotypes are pigmentation and no phenotypic analysis.

Wikipedia:63 Mastocytosis, one of the mast cell diseases, is a rare disorder of both children and adults caused by... more...

Aliases & Classifications for Mastocytosis

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Sources:
41NIH Rare Diseases, 11DISEASES, 43Novoseek, 22GTR, 60UMLS, 25ICD10
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Mastocytosis, Aliases & Descriptions:

Name: Mastocytosis 41 11 43 22 60
Urticaria Pigmentosa 60
 
Mast Cell Disease 41


Classifications:

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


External Ids:

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 Suite gene sharing:

(show top 50)    (show all 187)
idRelated DiseaseScoreTop Affiliating Genes
1systemic mastocytosis32.4KITLG, KIT
2urticaria pigmentosa31.6KIT, KITLG
3mast cell neoplasm30.4HDC, KIT, KITLG
4renal cell carcinoma30.3IFNA2
5chronic myelomonocytic leukemia30.3PDGFRA, PDGFRB, KIT, KITLG
6uveitis30.3IL2RA, IFNA2
7gastrointestinal stromal tumor30.2KIT, PDGFRA
8splenomegaly30.2IFNA2, IL2RA
9thrombocytosis30.2KITLG, IFNA2
10myelofibrosis30.2IFNA2, PDGFRA, PDGFRB
11sarcoma30.1PDGFRA, PDGFRB, KIT, KITLG
12essential thrombocythemia30.1KITLG, KIT, IFNA2
13myelodysplastic syndrome30.1KITLG, KIT, PDGFRB, PDGFRA
14piebaldism30.0PDGFRA, KIT, KITLG
15hypereosinophilic syndrome30.0KIT, PDGFRB, PDGFRA, IL2RA
16eosinophilia29.7IFNA2, IL2RA, PDGFRA, PDGFRB, CD2
17leukemia29.6HDC, IFNA2, IL2RA, PDGFRA, PDGFRB, KIT
18melanoma29.0CD2, KITLG, KIT, PDGFRB, PDGFRA, IFNA2
19cutaneous mastocytosis11.0
20diffuse cutaneous mastocytosis10.7
21indolent systemic mastocytosis10.7
22urticaria10.7
23aggressive systemic mastocytosis10.6
24osteoporosis10.5
25myeloid leukemia10.5
26mast-cell leukemia10.4
27sm-ahnmd10.4
28mastocytosis cutaneous with short stature conductive hearing loss and microtia10.4
29isolated bone marrow mastocytosis10.4
30dysgerminoma10.3KITLG, KIT
31refractory anemia10.3KIT, KITLG
32precursor b-cell acute lymphoblastic leukemia10.3KIT, KITLG
33mast cell disease10.3
34pseudoxanthomatous diffuse cutaneous mastocytosis10.3
35factor vii deficiency10.3IFNA2, KIT
36mesenchymal cell neoplasm10.3PDGFRA, KIT
37carney triad10.3PDGFRA, KIT
38severe combined immunodeficiency, x-linked10.3IL2RA, KITLG
39smouldering systemic mastocytosis10.3
40bullous diffuse cutaneous mastocytosis10.3
41sezary's disease10.3IL2RA, IFNA2
42adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency10.3IL2RA, IFNA2
43hcl-v10.2IL2RA, IFNA2
44malignant peripheral nerve sheath tumor10.2PDGFRA, KIT
45malignant mixed mullerian tumor10.2KIT, PDGFRB
46uterine sarcoma10.2PDGFRB, KIT
47mast-cell sarcoma10.2
48portal hypertension10.2
49myeloma10.2
50cutaneous mastocytoma10.2

Graphical network of the top 20 diseases related to Mastocytosis:



Diseases related to mastocytosis

Symptoms for Mastocytosis

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HPO human phenotypes related to Mastocytosis:

(show all 22)
id Description Frequency HPO Source Accession
1 pruritus hallmark (90%) HP:0000989
2 urticaria hallmark (90%) HP:0001025
3 hypermelanotic macule hallmark (90%) HP:0001034
4 mastocytosis hallmark (90%) HP:0100495
5 diarrhea typical (50%) HP:0002014
6 nausea and vomiting typical (50%) HP:0002017
7 abnormal blistering of the skin typical (50%) HP:0008066
8 impaired temperature sensation typical (50%) HP:0010829
9 splenomegaly occasional (7.5%) HP:0001744
10 anorexia occasional (7.5%) HP:0002039
11 respiratory insufficiency occasional (7.5%) HP:0002093
12 asthma occasional (7.5%) HP:0002099
13 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
14 hepatomegaly occasional (7.5%) HP:0002240
15 acute leukemia occasional (7.5%) HP:0002488
16 hypotension occasional (7.5%) HP:0002615
17 recurrent fractures occasional (7.5%) HP:0002757
18 hypercalcemia occasional (7.5%) HP:0003072
19 reduced bone mineral density occasional (7.5%) HP:0004349
20 arrhythmia occasional (7.5%) HP:0011675
21 sarcoma occasional (7.5%) HP:0100242
22 teleangiectasia of the skin occasional (7.5%) HP:0100585

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 UMLS60/NDF-RT39:

Genetic Tests for Mastocytosis

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Genetic tests related to Mastocytosis:

id Genetic test Affiliating Genes
1 Mastocytosis22

Anatomical Context for Mastocytosis

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MalaCards organs/tissues related to Mastocytosis:

31
Bone, Bone marrow, Skin, Myeloid, Liver, Testes, B cells, Lung, Monocytes, T cells, Breast, Ovary, Lymph node, Spleen, Brain, Heart, Small intestine, Colon, 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 971)
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
Orbital Involvement in Systemic Mastocytosis. (24410676)
2014
4
Mastocytosis, Kounis syndrome and medical emergencies. (24415350)
2014
5
Mastocytosis and allergic diseases. (25345299)
2014
6
Mastocytosis. (24262698)
2014
7
Mastocytosis: a paradigmatic example of a rare disease with complex biology and pathology. (23593539)
2013
8
Omalizumab Induced Remission of Idiopathic Anaphylaxis in a Patient Suffering from Indolent Systemic Mastocytosis. (24162824)
2013
9
Systemic mastocytosis - the importance of looking within bone marrow fragments. (24123109)
2013
10
Guidelines and diagnostic algorithm for patients with suspected systemic mastocytosis: a proposal of the Austrian competence network (AUCNM). (23675567)
2013
11
Systemic mastocytosis presenting as Kounis syndrome. (24267372)
2013
12
Cutaneous mastocytosis as a rare differential diagnosis for unilateral chronic facial pain and erythema: a case report. (24171187)
2013
13
Epidermal nevus syndrome with cutaneous mastocytosis. (22681453)
2012
14
Systemic mastocytosis: disease overview, pathogenesis, and treatment. (23009941)
2012
15
Involvement of a common progenitor cell in core binding factor acute myeloid leukaemia associated with mastocytosis. (22871474)
2012
16
Smouldering systemic mastocytosis presenting with cryptic life-threatening crises: case report and literature review. (22408224)
2012
17
Serotonin and its 5-HT1 receptor in human mastocytosis. (22268664)
2012
18
IL-5 receptor I+ levels in patients with marked eosinophilia or mastocytosis. (21762978)
2011
19
Anesthetic experience in a pediatric patient with mastocytosis. (22148097)
2011
20
Apoptosis, mastocytosis, and diminished adipocytokine gene expression accompany reduced epididymal fat mass in long-standing diet-induced obese mice. (22051061)
2011
21
Current approaches to the diagnosis and treatment of systemic mastocytosis. (20143640)
2010
22
Utility of the World Heath Organization classification criteria for the diagnosis of systemic mastocytosis in bone marrow. (19116630)
2009
23
Systemic mastocytosis presenting as osteoporosis--a case report. (19305945)
2009
24
The recent article on 'Mastocytosis and insect venom allergy: diagnosis, safety and efficacy of venom immunotherapy' by Niedoszytko et al. (19824888)
2009
25
Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. (18186813)
2008
26
What's eating you? Bees, Part 2: Venom immunotherapy and mastocytosis. (17725061)
2007
27
Therapeutically relevant mutations in the receptor tyrosine kinase KIT in mastocytosis]. (18314612)
2007
28
A pilot study of nonmyeloablative allogeneic hematopoietic stem cell transplant for advanced systemic mastocytosis. (16400343)
2006
29
Interferon treatment for hypereosinophilic syndromes and systemic mastocytosis. (15995323)
2005
30
Bone marrow biopsies for the diagnosis of systemic mastocytosis: is one biopsy sufficient? (14983941)
2004
31
Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. (14687620)
2004
32
Multiple life-threatening fainting episodes: fatal systemic mastocytosis. (14719479)
2003
33
Comment on systemic mastocytosis study. (12716379)
2003
34
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
35
Effect of granulocyte macrophage colony-stimulating factor in a patient with benign systemic mastocytosis. (11703299)
2001
36
Pathologic quiz case. Systemic mastocytosis. (10747334)
2000
37
c-Kit and c-kit mutations in mastocytosis and other hematological diseases. (10670573)
2000
38
Hematologic aspects of systemic mastocytosis. (10909040)
2000
39
Gastrointestinal abnormalities and involvement in systemic mastocytosis. (10909042)
2000
40
The effect of pamidronate on lumbar spine bone density and pain in osteoporosis secondary to systemic mastocytosis. (9133977)
1997
41
Successful treatment of osteoporosis in systemic mastocytosis with interferon alpha-2b. (8605279)
1996
42
Cutaneous mastocytosis in a dog. (1514225)
1992
43
Fibrous mastocytoma in a patient with generalized cutaneous mastocytosis. (1375950)
1992
44
Diffuse cutaneous mastocytosis, 22 years on. (2337526)
1990
45
Portal hypertension and ascites in systemic mastocytosis. (2608581)
1989
46
Bronchoalveolar mastocytosis in farmer's lung is related to the disease activity. (3377620)
1988
47
Hypotensive attacks due to systemic mastocytosis. (3591218)
1987
48
Effects of isoprenaline and terbutaline on urinary excretion of histamine and its two main metabolites in systemic mastocytosis. (3728212)
1986
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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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 Suite gene sharing:

(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 Pathway36
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 signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
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 Suite gene sharing:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1monochloroacetic acid4310.2KITLG, KIT
2mizoribine4310.0IFNA2, IL2RA
3pentostatin43 59 28 1212.9IL2RA, IFNA2
4su6668439.9KIT, PDGFRB
5zd6474439.8PDGFRB, KIT
6hydroxychloroquine43 1210.8IFNA2, IL2RA
7cytarabine43 49 1211.7KITLG, KIT, IFNA2
8toluidine439.7KITLG, KIT
9dmpq dihydrochloride599.7PDGFRB, PDGFRA
10sunitinib malate599.7PDGFRB, PDGFRA
11su 6668599.7PDGFRA, PDGFRB
12su 16f599.7PDGFRA, PDGFRB
13gold439.6IFNA2, KITLG, KIT
14vincristine43 49 1211.6KIT, IL2RA, IFNA2
15su5416439.6KIT, KITLG, PDGFRB
16agarose439.6KIT, IFNA2, KITLG
17prednisolone43 28 1211.6KITLG, IL2RA, IFNA2
18pkc 412439.4PDGFRB, PDGFRA, KIT
19pazopanib49 1210.4PDGFRB, PDGFRA, KIT
20sunitinib43 49 1211.4KIT, PDGFRB, PDGFRA
21regorafenib49 1210.4PDGFRB, KIT, PDGFRA
22doxorubicin43 49 1211.4KIT, IL2RA, IFNA2, KITLG
23hydroxyurea43 49 1211.3PDGFRA, KIT, KITLG, IFNA2
24megestrol acetate439.3IL2RA, IFNA2
25cyclophosphamide43 49 1211.3IFNA2, IL2RA, KITLG
26con a439.2IFNA2, IL2RA, CD2
27ribonucleic acid439.2KITLG, PDGFRB, IFNA2, KIT
28tgf beta1439.2PDGFRA, PDGFRB, KITLG
29gp 130439.2PDGFRB, KIT, KITLG, IL2RA
30ag-1296439.1PDGFRA, PDGFRB, KIT, KITLG
31paclitaxel43 49 1211.1KITLG, KIT, PDGFRB, IL2RA
32imatinib43 49 1211.1KITLG, KIT, PDGFRB, PDGFRA
33histamine43 28 2411.0HDC, IFNA2, KITLG, IL2RA, KIT
34cisplatin43 49 59 1212.0PDGFRB, KITLG, IL2RA, IFNA2
35calcitriol43 59 24 1211.9PDGFRA, PDGFRB, KITLG, IL2RA
365fluorouracil438.8KIT, PDGFRB, IL2RA, KITLG, IFNA2
37aspartate438.8KIT, IL2RA, HDC, IFNA2, PDGFRA
38testosterone43 59 24 1211.7KITLG, KIT, PDGFRB, IL2RA
39h2o2438.7HDC, IL2RA, PDGFRB, KITLG
40rapamycin438.6PDGFRB, PDGFRA, IL2RA, KIT, KITLG
41paraffin438.6KITLG, PDGFRA, IL2RA, KIT, PDGFRB
42phosphatidylinositol438.6PDGFRA, KITLG, KIT, PDGFRB, IL2RA
43glucose438.3KITLG, KIT, PDGFRB, IFNA2, CD2
44retinoic acid43 249.3PDGFRB, PDGFRA, IFNA2, KIT, KITLG, HDC
45vegf438.3KITLG, IL2RA, PDGFRB, PDGFRA, IFNA2, KIT
46estrogen438.3IL2RA, IFNA2, KITLG, KIT, PDGFRB, PDGFRA
47thymidine43 249.1IL2RA, CD2, KITLG, KIT, PDGFRA, IFNA2
48lipid438.0SLC27A4, IFNA2, PDGFRB, KITLG, CD2
49calcium43 49 24 1210.7KIT, PDGFRA, HDC, KITLG, PDGFRB, CD2
50tyrosine437.1KITLG, KIT, PDGFRB, PDGFRA, IL2RA, IFNA2

GO Terms for genes affiliated with Mastocytosis

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:00098989.3CD2, KIT
2intrinsic component of plasma membraneGO:00312269.0PDGFRB, PDGFRA
3external side of plasma membraneGO:00098978.4CD2, KIT, PDGFRA, IL2RA
4plasma membraneGO:00058866.8IL2RA, PDGFRA, PDGFRB, KIT, KITLG, CD2

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1ectopic germ cell programmed cell deathGO:003523410.1KIT, KITLG
2embryonic hemopoiesisGO:003516210.0KITLG, KIT
3positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.8IFNA2, KIT
4metanephric glomerular capillary formationGO:00722779.7PDGFRA, PDGFRB
5positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:00380919.6PDGFRA, PDGFRB
6retina vasculature development in camera-type eyeGO:00612989.6PDGFRA, PDGFRB
7positive regulation of DNA replicationGO:00457409.6PDGFRA, KITLG
8cardiac myofibril assemblyGO:00550039.6PDGFRB, PDGFRA
9adrenal gland developmentGO:00303259.5PDGFRB, PDGFRA
10platelet-derived growth factor receptor signaling pathwayGO:00480089.4PDGFRA, PDGFRB
11positive regulation of MAP kinase activityGO:00434069.4KITLG, PDGFRB
12positive regulation of phospholipase C activityGO:00108639.4KIT, PDGFRB, PDGFRA
13positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.4KIT, PDGFRB, PDGFRA
14cell chemotaxisGO:00603269.3PDGFRA, PDGFRB, KIT
15positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.3KIT, PDGFRB, PDGFRA
16wound healingGO:00420609.3PDGFRB, PDGFRA
17peptidyl-tyrosine phosphorylationGO:00181089.3KIT, PDGFRB, PDGFRA
18positive regulation of cell migrationGO:00303359.3PDGFRA, PDGFRB, KIT
19protein autophosphorylationGO:00467779.2PDGFRA, PDGFRB, KIT
20cell surface receptor signaling pathwayGO:00071669.0CD2, IL2RA, IFNA2
21phosphatidylinositol-mediated signalingGO:00480159.0PDGFRA, PDGFRB, KIT, KITLG
22fibroblast growth factor receptor signaling pathwayGO:00085439.0PDGFRA, PDGFRB, KIT, KITLG
23Fc-epsilon receptor signaling pathwayGO:00380959.0KITLG, KIT, PDGFRB, PDGFRA
24epidermal growth factor receptor signaling pathwayGO:00071739.0PDGFRA, PDGFRB, KIT, KITLG
25neurotrophin TRK receptor signaling pathwayGO:00480119.0PDGFRA, PDGFRB, KIT, KITLG
26positive regulation of cell proliferationGO:00082848.7KIT, PDGFRB, PDGFRA
27innate immune responseGO:00450878.6KITLG, KIT, PDGFRB, PDGFRA, IFNA2

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase activityGO:00047149.6KIT, PDGFRA
2vascular endothelial growth factor bindingGO:00380859.3PDGFRB, PDGFRA
3platelet-derived growth factor bindingGO:00484079.2PDGFRB, PDGFRA
4platelet-derived growth factor receptor bindingGO:00051619.0PDGFRB, PDGFRA

Products for genes affiliated with Mastocytosis

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Sources for Mastocytosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet