MCID: MST009
MIFTS: 67

Mastocytosis malady

Skin, Immune, Blood, Cancer categories

Summaries for Mastocytosis

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Mastocytosis, also known as mast cell disease, is related to systemic mastocytosis and indolent systemic mastocytosis, 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 Regulation of KIT signaling and Osteoblast Signaling. The compounds su6668 and ag-1296 have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, lymph node and spleen, and related mouse phenotypes are integument and digestive/alimentary.

Wikipedia:64 Mastocytosis is a group of rare disorders of both children and adults caused by the presence of too many... more...

Description from OMIM:47 154800

Aliases & Classifications for Mastocytosis

Sources:
49Orphanet, 61UMLS, 43NIH Rare Diseases, 22GTR, 10DISEASES, 45Novoseek, 20GeneTests, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Skin, Immune, Blood


Characteristics (Orphanet epidemiological data):

49
urticaria pigmentosa:
Inheritance: Sporadic; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

mastocytosis 43 22 10 45
mast cell disease 43 20 47
urticaria pigmentosa 49 61
maculopapular cutaneous mastocytosis 49
mast cell neoplasm 61


External Ids:

OMIM47 154800
MESH via Orphanet36 D014582
ICD10 via Orphanet26 Q82.2
SNOMED-CT via Orphanet58 78745000
UMLS via Orphanet62 C0042111
ICD1025 Q82.2

Related Diseases for Mastocytosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the systemic mastocytosis family:

mastocytosis systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

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

(show top 50)    (show all 216)
idRelated DiseaseScoreTop Affiliating Genes
1systemic mastocytosis31.8PDGFRB
2indolent systemic mastocytosis31.0ISM1
3urticaria pigmentosa31.0KITLG, KIT
4acute leukemia30.8STAT5A, JAK2, NTRK3, FGFR1, KITLG, KIT
5mast-cell leukemia30.7NTRK3, KLRG1, KITLG, KIT
6chronic myelomonocytic leukemia30.3STAT5A, PDGFRB, PDGFRA, JAK2, KIT, KITLG
7hypereosinophilic syndrome30.2PDGFRA, PDGFRB, KIT
8myeloproliferative disorder30.1JAK2, PDGFRA, IFNA2, PDGFRB, STAT5A, NTRK3
9polycythemia vera30.1IFNA2, KIT, JAK2, PDGFRA, STAT5A, KITLG
10asthma30.0STAT5A, HDC, IL2RA, KITLG
11myelodysplastic syndromes30.0STAT5A, FGFR1, JAK2, PDGFRA, KIT, PDGFRB
12down syndrome29.7JAK2
13piebaldism29.7PDGFRA, KITLG, KIT
14splenomegaly29.7JAK2, IFNA2, IL2RA
15gastrointestinal stromal tumor29.7PDGFRA, KIT
16thrombocytosis29.7JAK2, KITLG, IFNA2
17adenocarcinoma29.7JAK2, PDGFRB, STAT5A, NTRK3, FGFR1, KITLG
18carcinoid syndrome29.7HDC, SLC18A2, IFNA2
19diffuse cutaneous mastocytosis10.7
20urticaria10.6
21mast syndrome10.6
22aggressive systemic mastocytosis10.6
23osteoporosis10.5
24acute myeloid leukemia10.4
25bullous diffuse cutaneous mastocytosis10.4
26papular urticaria10.3
27isolated bone marrow mastocytosis10.3
28smouldering systemic mastocytosis10.3
29cutaneous mastocytoma10.2
30syringoma10.2
31genetic urticaria10.2
32plaque-form urticaria pigmentosa10.2
33typical urticaria pigmentosa10.2
34microphthalmia10.2
35splenic disease10.2
36bone fracture10.2
37mast-cell sarcoma10.2
38mastocytosis cutaneous with short stature conductive hearing loss and microtia10.2
39pseudoxanthomatous diffuse cutaneous mastocytosis10.2
40portal hypertension10.1
41n syndrome10.1
42syncope10.1
43b-cell lymphocytic neoplasm10.1
44sm-ahnmd10.1
45bone lymphoma10.1
46systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease10.1
47acanthosis nigricans10.1
48parapsoriasis10.1
49otosclerosis10.1
50lichen planus10.1

Graphical network of the top 20 diseases related to Mastocytosis:



Diseases related to mastocytosis

Clinical Features for Mastocytosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

154800

Clinical synopsis from OMIM:

154800

Symptoms:

49 (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

Drugs & Therapeutics for Mastocytosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Mastocytosis

Drug clinical trials:

Search ClinicalTrials for Mastocytosis

Search NIH Clinical Center for Mastocytosis

Search CenterWatch for Mastocytosis

Genetic Tests for Mastocytosis

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Mastocytosis:

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

Anatomical Context for Mastocytosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Mastocytosis:

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

Animal Models for Mastocytosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Mastocytosis

Sources:
51PubMed
See all sources

Articles related to Mastocytosis:

(show top 50)    (show all 904)
idTitleAuthorsYear
1
Systemic mastocytosis presenting as Kounis syndrome. (24267372)
2013
2
Flow cytometry criteria for systemic mastocytosis: bone marrow mast cell counts do not always count. (23547320)
2013
3
Bone marrow mast cell burden and serum tryptase level as markers of response in patients with systemic mastocytosis. (23278641)
2013
4
Systemic mastocytosis: predominantly involving the bone, a case report. (24298498)
2013
5
Short-term omalizumab treatment in an adolescent with cutaneous mastocytosis. (24125156)
2013
6
Munchausen's syndrome with rare hematological disorder, systemic mastocytosis: a case report. (24026737)
2013
7
N822K c-kit mutation in CD30-positive cutaneous pleomorphic mastocytosis after germ cell tumour of the ovary. (22233328)
2012
8
Childhood mastocytosis. (22790101)
2012
9
Anesthetic experience in a pediatric patient with mastocytosis. (22148097)
2011
10
Systemic mastocytosis (SM) and associated malignant bone marrow histiocytosis - a hitherto undescribed form of SM-AHNMD. (21866466)
2011
11
Aberrant expression of CD30 in aggressive systemic mastocytosis and mast cell leukemia: a differential diagnosis to consider in aggressive hematopoietic CD30-positive neoplasms. (21261503)
2011
12
IgE-mediated anaphylaxis to Hippobosca equina in a patient with systemic mastocytosis. (20002662)
2010
13
Masitinib for the treatment of systemic and cutaneous mastocytosis with handicap: a phase 2a study. (21108325)
2010
14
Spontaneous extracutaneous systemic mastocytosis in a cynomolgus macaque (Macaca fascicularis). (19545986)
2010
15
Indolent systemic mastocytosis. (20684189)
2010
16
Disseminated cutaneous mast cell tumors with epitheliotropism and systemic mastocytosis in a domestic cat. (19737771)
2009
17
Duodenal mastocytosis, eosinophilia and intraepithelial lymphocytosis as possible disease markers in the irritable bowel syndrome and functional dyspepsia. (19183150)
2009
18
Immunophenotyping of mast cells: a sensitive and specific diagnostic tool for systemic mastocytosis. (19581658)
2009
19
Refractory Noninfectious Anterior Uveitis Associated With Systemic Mastocytosis. (19791718)
2009
20
Systemic mastocytosis with plasma cell dyscrasia: report of a case. (18061667)
2008
21
An unusual cause of spontaneous bleeding in the intensive care unit - mastocytosis: a case report. (18706126)
2008
22
CD25 expression on cutaneous mast cells from adult patients presenting with urticaria pigmentosa is predictive of systemic mastocytosis. (18162781)
2008
23
What's eating you? Bees, Part 2: Venom immunotherapy and mastocytosis. (17725061)
2007
24
Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels. (17449330)
2007
25
Bone marrow mastocytosis in dogs with myelosuppressive monocytic ehrlichiosis (Ehrlichia canis): a retrospective study. (16967415)
2006
26
Peripheral interstitial keratitis: a novel manifestation of ocular mastocytosis. (16633043)
2006
27
Aggressive systemic mastocytosis: a case report and brief review of the literature. (15794480)
2005
28
c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation. (15858149)
2005
29
Congenital cutaneous mastocytosis. (15238925)
2004
30
Cladribine therapy for systemic mastocytosis. (12933573)
2003
31
Regression of urticaria pigmentosa in adult patients with systemic mastocytosis: correlation with clinical patterns of disease. (12056960)
2002
32
Mastocytosis: molecular mechanisms and clinical disease heterogeneity. (11377683)
2001
33
Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. (11380399)
2001
34
Diffuse cutaneous mastocytosis responding to cyproheptadine. (10233642)
1999
35
Tripe palms associated with systemic mastocytosis: the role of transforming growth factor-alpha and efficacy of interferon-alfa. (9640384)
1998
36
Murine cutaneous mastocytosis and epidermal melanocytosis induced by keratinocyte expression of transgenic stem cell factor. (9584135)
1998
37
Systemic mastocytosis and skeletal lesions. (10213578)
1997
38
Pulmonary and ovarian manifestations of systemic mastocytosis. (8610583)
1996
39
Systemic mastocytosis involving the mandible. (8078658)
1994
40
Anaphylactic-like syndrome in systemic mastocytosis treated with alpha-2-interferon. (1853687)
1991
41
Diffuse cutaneous mastocytosis in a cat. (2238391)
1990
42
Hematopathology of the bone marrow in pediatric cutaneous mastocytosis. A study of 17 patients. (2470248)
1989
43
Treatment of adult systemic mastocytosis with a PAF-acether antagonist BN52063. (2898694)
1988
44
Comparison of the therapeutic efficacy of cromolyn sodium with that of combined chlorpheniramine and cimetidine in systemic mastocytosis. Results of a double-blind clinical trial. (3917606)
1985
45
Bleeding after liver biopsy in a patient with systemic mastocytosis and malabsorption. (4045181)
1985
46
Bullous urticaria pigmentosa (cutaneous mastocytosis) and sodium cromoglycate therapy. (6177178)
1981
47
Generalized mastocytosis in a foal, resembling urticaria pigmentosa of man. (1089100)
1975
48
Equine cutaneous mastocytosis. (4098483)
1970
49
Solitary mastocytosis (urticaria pigmentosa). (14452118)
1961
50
Urticaria pigmentosa and generalized mastocytosis. Polymyxin Btreatment. (13684657)
1961

Genetic Variations for Mastocytosis

Expression for genes affiliated with Mastocytosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 4Cell Signaling Technology, 52QIAGEN, 12EMD Millipore, 50PharmGKB, 30KEGG, 53R&D Systems, 60Tocris Bioscience
See all sources

Pathways related to Mastocytosis according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4KITLG, KIT
210.4PDGFRB, PDGFRA
310.4PDGFRB, FGFR1, PDGFRA
4
Hide members
10.4CD2, NTRK3, IL2RA
510.4STAT5A, JAK2, IL2RA
6
Hide members
10.4STAT5A, JAK2, IL2RA
710.4IL2RA, STAT5A, JAK2
810.4IL2RA, STAT5A, JAK2
9
Immune response IL-2 activation and signaling pathway
Hide members
10.4IL2RA, STAT5A, JAK2
10
Hide members
10.4JAK2, STAT5A, IL2RA
1110.4STAT5A, JAK2, PDGFRB
12
Hide members
10.4FGFR1, KIT, PDGFRA, PDGFRB
13
Hide members
10.4STAT5A, JAK2, KIT, KITLG
1410.4PDGFRA, PDGFRB, STAT5A, IL2RA
15
Hide members
10.4STAT5A, JAK2, IL2RA, IFNA2
16
Hide members
10.4JAK2, STAT5A, IL2RA, IFNA2
1710.4STAT5A, IFNA2, JAK2, IL2RA
1810.4FGFR1, NTRK3, PDGFRB, PDGFRA
1910.4FGFR1, NTRK3, PDGFRA, PDGFRB
20
Hide members
10.4KIT, KITLG, FGFR1, PDGFRA, PDGFRB
21
Hide members
10.4FGFR1, PDGFRB, PDGFRA, KITLG, KIT
22
Development PDGF signaling via STATs and NF-kB
Hide members
10.4STAT5A, JAK2, PDGFRB, PDGFRA
23
Hide members
10.4PDGFRA, STAT5A, JAK2, PDGFRB
2410.3CD5, CD2, KITLG, IL2RA, KIT
25
Hide members
10.3PDGFRB, PDGFRA, FGFR1, NTRK3, KIT
26
Hide members
10.3PDGFRA, IL2RA, FGFR1, NTRK3, PDGFRB
27
Hide members
10.3NTRK3, JAK2, PDGFRA, FGFR1, PDGFRB
28
Hide members
10.3KIT, PDGFRB, PDGFRA, NTRK3, KITLG, FGFR1
29
Hide members
10.3PDGFRB, PDGFRA, STAT5A, FGFR1, KITLG, KIT
3010.3FGFR1, PDGFRA, STAT5A, KITLG, PDGFRB, KIT
3110.3STAT5A, PDGFRA, KITLG, KIT, FGFR1, PDGFRB
3210.3PDGFRA, JAK2, KIT, KITLG, PDGFRB, FGFR1
33
Hide members
10.3PDGFRA, KITLG, KIT, FGFR1, NTRK3, PDGFRB
34
Hide members
10.3KITLG, KIT, IL2RA, NTRK3, PDGFRA, PDGFRB
35
Hide members
10.3NTRK3, KIT, KITLG, IL2RA, FGFR1, PDGFRA
36
Hide members
10.3KITLG, KIT, IL2RA, PDGFRB, FGFR1, NTRK3
37
Hide members
10.3KIT, PDGFRB, PDGFRA, JAK2, STAT5A, FGFR1
3810.3IFNA2, KIT, KITLG, IL2RA, JAK2, FGFR1
39
Hide members
10.3KIT, FGFR1, PDGFRB, PDGFRA, KITLG, IL2RA
40
Hide members
10.2JAK2, KLRG1, FGFR1, STAT5A, PDGFRB, PDGFRA
41
Hide members
10.2KIT, KITLG, IL2RA, FGFR1, CD2, PDGFRA
42
Hide members
10.2NTRK3, STAT5A, FGFR1, IL2RA, JAK2, PDGFRA
43
Hide members
10.2STAT5A, NTRK3, CD2, FGFR1, KITLG, IL2RA
44
Hide members
10.2KITLG, PDGFRB, JAK2, PDGFRA, STAT5A, KIT
45
Hide members
10.2PDGFRA, JAK2, STAT5A, IFNA2, KIT, PDGFRB

Compounds for genes affiliated with Mastocytosis

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Mastocytosis according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1su66684510.8KIT, PDGFRB, FGFR1
2ag-12964510.8PDGFRA, KITLG, KIT, PDGFRB, STAT5A
3pkc 4124510.8PDGFRB, PDGFRA, KIT, STAT5A
4Regorafenib1110.8KIT, FGFR1, PDGFRA, PDGFRB
5su54164510.8KIT, KITLG, FGFR1, PDGFRB, STAT5A
6Pazopanib1110.8KIT, PDGFRA, PDGFRB
7hydroxyurea45 50 1112.8IFNA2, KIT, KITLG, JAK2, PDGFRA
8Ponatinib 1110.8FGFR1, PDGFRA, KIT
9cycloheximide4510.8NTRK3
10gp 1304510.7STAT5A, PDGFRB, KITLG, JAK2, KIT, IL2RA
11paclitaxel45 50 1112.7PDGFRB
12sunitinib45 50 1112.7PDGFRB, KIT, PDGFRA
135fluorouracil4510.7IL2RA, IFNA2, PDGFRB, KITLG, KIT
14agar4510.7KITLG, FGFR1, JAK2, STAT5A, PDGFRB, IFNA2
15paraffin4510.7PDGFRB, PDGFRA, KIT, KITLG, IL2RA, CD5
16aspartate4510.7SLC18A2, HDC, STAT5A, JAK2, PDGFRA, NTRK3
17glucose4510.7PDGFRB, CD2, FGFR1, SLC18A2, IFNA2, KITLG
18rapamycin4510.7STAT5A, IL2RA, JAK2, KITLG, KIT, PDGFRA
19ribonucleic acid4510.7KIT, FGFR1, PDGFRB, IFNA2, KITLG
20phosphotyrosine4510.7JAK2, PDGFRB, PDGFRA, FGFR1, STAT5A, KIT
21imatinib45 50 1112.7KITLG, KIT, FGFR1, NTRK3, STAT5A, PDGFRA
22cytarabine45 50 1112.7KIT, KITLG, STAT5A, IFNA2
23dasatinib45 50 1112.7KIT, PDGFRB, STAT5A
24beta-tyrosine4510.7JAK2, KIT
25phenylalanine4510.7STAT5A, FGFR1, KIT, PDGFRB, JAK2
26histamine45 29 2412.7KITLG, HDC, FGFR1, IFNA2, IL2RA, KIT
27genistein45 29 60 2 11 2415.7PDGFRB, IL2RA, STAT5A, JAK2, KITLG, FGFR1
28epinephrine45 11 2412.7IFNA2, JAK2, IL2RA, KITLG, SLC18A2
29Becaplermin1110.7PDGFRA, PDGFRB
30thymidine45 2411.7STAT5A, PDGFRA, KIT, IFNA2, JAK2, CD2
31steroid4510.7STAT5A, KITLG, IL2RA, FGFR1, IFNA2, KIT
32phosphatidylinositol4510.6STAT5A, PDGFRB, PDGFRA, JAK2, NTRK3, FGFR1
33vegf4510.6KITLG, IL2RA, FGFR1, KIT, NTRK3, STAT5A
34cysteine4510.6FGFR1, SLC18A2, KIT, IL2RA, STAT5A, JAK2
35con a4510.6IL2RA, CD2, IFNA2
36h2o24510.6IL2RA, PDGFRB, FGFR1, HDC, JAK2, KITLG
37retinoic acid45 2411.6IFNA2, STAT5A, KITLG, KIT, SLC18A2, NTRK3
38lipid4510.6JAK2, PDGFRB, IFNA2, SLC27A4, STAT5A, KITLG
39pd 98,0594510.6KIT, KITLG, FGFR1, STAT5A, JAK2
40ly2940024510.5KITLG, FGFR1, PDGFRB, JAK2, STAT5A
41calcium45 50 11 2413.5PDGFRA, HDC, CD2, FGFR1, KIT, PDGFRB
42tyrosine4510.5NTRK3, HDC, IFNA2, PDGFRB, JAK2, CD2
43wortmannin4510.5KITLG, CD2, JAK2, STAT5A, PDGFRB
44herbimycin a45 6011.5IL2RA, STAT5A, JAK2, KITLG
45testosterone45 60 11 2413.5KIT, FGFR1, KITLG, IL2RA, PDGFRB, NTRK3
46serine4510.4JAK2, SLC18A2
47oligonucleotide4510.4PDGFRB, PDGFRA, KIT, JAK2, STAT5A, FGFR1
48lysine4510.3IFNA2, KITLG, IL2RA, FGFR1, JAK2
49proline4510.2CD2, PDGFRB, JAK2, STAT5A, NTRK3
50cyclosporin a45 29 6012.0JAK2, STAT5A, IL2RA, KITLG, CD2

GO Terms for genes affiliated with Mastocytosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Mastocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00989710.4IL2RA, PDGFRA, CD5, CD2, KIT
2intrinsic to plasma membraneGO:03122610.3PDGFRA, PDGFRB
3integral to plasma membraneGO:00588710.3PDGFRA, NTRK3, CD5, CD2, FGFR1, SLC18A2
4plasma membraneGO:00588610.1FGFR1, CD2, CD5, PDGFRA, KLRG1, IL2RA
5extracellular regionGO:0055769.9KITLG, FGFR1, CD2, BSPH1, ISM1, IFNA2

Biological processes related to Mastocytosis according to GeneCards/GeneDecks:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of phospholipase C activityGO:01086310.8PDGFRB, PDGFRA, KIT, FGFR1
2cell chemotaxisGO:06032610.7PDGFRA, PDGFRB, KIT
3positive regulation of phosphatidylinositol 3-kinase activityGO:04355210.7PDGFRB, KIT, PDGFRA
4phosphatidylinositol-mediated signalingGO:04801510.7PDGFRA, KITLG, FGFR1, KIT, PDGFRB
5positive regulation of phosphatidylinositol 3-kinase cascadeGO:01406810.7PDGFRA, PDGFRB, KIT, JAK2, FGFR1
6fibroblast growth factor receptor signaling pathwayGO:00854310.7KITLG, KIT, PDGFRB, PDGFRA, FGFR1
7positive regulation of tyrosine phosphorylation of Stat3 proteinGO:04251710.7JAK2, KIT, IFNA2
8platelet-derived growth factor receptor signaling pathwayGO:04800810.7PDGFRA, PDGFRB, JAK2
9Fc-epsilon receptor signaling pathwayGO:03809510.7PDGFRA, PDGFRB, KIT, KITLG, FGFR1
10metanephric glomerular capillary formationGO:07227710.7PDGFRB, PDGFRA
11epidermal growth factor receptor signaling pathwayGO:00717310.7KIT, FGFR1, KITLG, PDGFRA, PDGFRB
12peptidyl-tyrosine phosphorylationGO:01810810.7PDGFRA, FGFR1, PDGFRB, JAK2, STAT5A, KIT
13negative regulation of mast cell apoptotic processGO:03302610.7KITLG, STAT5A
14protein autophosphorylationGO:04677710.7NTRK3, FGFR1, KIT, JAK2, PDGFRB, PDGFRA
15positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:03809110.7PDGFRB, PDGFRA
16positive regulation of mast cell proliferationGO:07066810.7STAT5A, KITLG
17neurotrophin TRK receptor signaling pathwayGO:04801110.7KIT, PDGFRB, KITLG, FGFR1, PDGFRA
18innate immune responseGO:04508710.7KITLG, FGFR1, PDGFRA, KIT, PDGFRB, KLRG1
19positive regulation of cell migrationGO:03033510.6JAK2, NTRK3, PDGFRA, PDGFRB
20positive regulation of cell proliferationGO:00828410.6KIT, FGFR1, NTRK3, JAK2, PDGFRA, PDGFRB
21germ cell programmed cell deathGO:03523410.6KITLG, KIT
22cell surface receptor signaling pathwayGO:00716610.6KLRG1, IFNA2, CD2, IL2RA
23positive regulation of MAP kinase activityGO:04340610.6FGFR1, KITLG, PDGFRB
24luteinizationGO:00155310.6PDGFRA, STAT5A
25mammary gland epithelium developmentGO:06118010.5JAK2, STAT5A
26retina vasculature development in camera-type eyeGO:06129810.5PDGFRB, PDGFRA
27positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.4KIT, JAK2
28positive regulation of phosphoprotein phosphatase activityGO:03251610.4PDGFRB, JAK2
29cardiac myofibril assemblyGO:05500310.3PDGFRB, PDGFRA
30intracellular protein kinase cascadeGO:00724310.1PDGFRB, KIT, JAK2

Molecular functions related to Mastocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00471310.4KIT, FGFR1, JAK2, PDGFRB
2platelet-derived growth factor receptor bindingGO:00516110.4PDGFRA, PDGFRB
3transmembrane receptor protein tyrosine kinase activityGO:00471410.4PDGFRA, NTRK3, KIT
4vascular endothelial growth factor bindingGO:03808510.3PDGFRA, PDGFRB
5platelet-derived growth factor bindingGO:04840710.1PDGFRA, PDGFRB

Products for genes affiliated with Mastocytosis

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  • Antibodies

Sources for Mastocytosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet