Mastocytosis malady

NIH Rare Diseases: 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.³⁰

MalaCards: Mastocytosis, also known as mast cell disease, is related to cutaneous mastocytosis and aggressive systemic mastocytosis. An important gene associated with Mastocytosis is KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), and among its related pathways are Actin-Based Motility by Rho Family GTPases and Sorafenib Pharmacodynamics. The compounds cyclophosphamide and budesonide have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, skin and ovary, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Wikipedia: Mastocytosis is a group of rare disorders of both children and adults caused by the presence of too many...⁴⁴ more...

mastocytosis 30 8 32 mast cell disease 30 16

mast cell neoplasm 43

Diseases related to mastocytosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 511)

id	Related Disease	Score	Top Affiliating Genes
1	cutaneous mastocytosis	33.8	KIT, KITLG, BSPH1, RARA, TPSAB1, CTSG
2	aggressive systemic mastocytosis	33.1	KIT, KITLG, IFNA2, STAT5A
3	indolent systemic mastocytosis	32.1	KIT, KITLG
4	diffuse cutaneous mastocytosis	32.1	BSPH1, HBM, SLC27A4
5	urticaria pigmentosa	31.5	KIT, KITLG, CMA1, IL2RA
6	sm-ahnmd	30.7	KIT, KITLG, JAK2, FGFR1, IL2RA, IFNA2
7	mast-cell leukemia	30.6	KIT, KITLG, MPO, NTRK3, KLRG1
8	myelofibrosis	29.8	KIT, JAK2, IL3
9	myelodysplastic syndrome	28.9	KIT, KITLG, RARA, MPO, JAK2, CD69
10	piebaldism	28.5	KIT, KITLG, MITF, PDGFRA
11	mast cell neoplasm	28.2	ZNF185, KIT, MITF, HDC
12	asthma	28.0	IL13, IL5, IGHE, RNASE3
13	cholangitis	27.5	KITLG, MPO, IGHE, IFNA2, F3, CTSG
14	mast-cell sarcoma	27.3	KIT, KITLG, VIM, MPO, ISM1, FIP1L1
15	hypereosinophilic syndrome	27.2	KIT, FIP1L1, IL3, IL5, PDGFRA, PDGFRB
16	urticaria	27.2	KIT, KITLG, CMA1, CD63, FCER2, IL13
17	diarrhea	26.6	ZNF185, MPO, IL13, IL1B, IL5, IGHE
18	osteoporosis	26.3	BGLAP, MITF, IL1B, IL2RA, IFNA1, IFNA2
19	germ cell tumor	25.6	KIT, KITLG, BCL2, FGFR1, IL3, TNFRSF8
20	t-cell leukemia	25.4	BCL2, BCL2L1, FCER2, IL2RA, IL3, IL5
21	b-cell lymphomas	25.4	BCL2, BCL2L1, MS4A1, JAK2, CD5, FCER2
22	gastrointestinal stromal tumor	24.7	PIK3CA, PIK3R1, KIT, KITLG, VIM, BCL2
23	eosinophilia	24.3	CHIC2, MPO, JAK2, CD2, CD69, FIP1L1
24	acute myeloid leukemia	22.7	PIK3CD, PIK3CA, PIK3R1, KIT, KITLG, RARA
25	hypertension	22.2	PIK3R1, KIT, CMA1, BGLAP, BCL2L1, MPO
26	myeloid leukemia	21.2	PIK3CD, PIK3CA, PIK3R1, KIT, KITLG, VIM
27	leukemia	18.9	PIK3CD, PIK3CA, PIK3R1, KIT, KITLG, VIM
28	sarcoma	18.6	PIK3CD, PIK3CA, PIK3R1, KIT, KITLG, VIM
29	eosinophilic myeloproliferative disorder	13.8	FGFR1, PDGFRA, PDGFRB
30	diffuse infiltrative lymphocytosis syndrome	13.8	MS4A1, CD5, FCER2, IL2RA
31	hyperpigmentation of eyelid	13.8	KIT, KITLG, MITF
32	gamma chain deficiency	13.7	KITLG, IL13, IL2RA, IL9
33	mononeuropathy	13.7	MPO, IGHE, IFNA2
34	cough variant asthma	13.7	IL5, IGHE, RNASE3
35	sezary's disease	13.7	IL2RA, IL5, IFNA1, IFNA2
36	pthirus pubis infestation	13.7	FCER2, IL5, IGHE
37	carney triad	13.7	KIT, PDGFRA, ACTC1
38	vitiligo	13.6	KIT, KITLG, MPO, MITF, IL2RA, IFNA2
39	paragonimiasis	13.6	IL5, IGHE, RNASE3
40	herpes zoster	13.6	MS4A1, IFNA1, IFNA2, TKT
41	eosinophilic gastroenteritis	13.6	IL5, IGHE, RNASE3
42	helminthiasis	13.6	IL13, IL5, IGHE, RNASE3
43	gastrointestinal stromal tumor, somatic	13.6	KIT, PDGFRA
44	urinary schistosomiasis	13.6	IL13, IL5, IGHE, RNASE3
45	cutaneous leishmaniasis	13.6	FCER2, IL13, IL5
46	allergic rhinitis	13.6	IL13, IL5, IGHE, RNASE3
47	chronic sphenoidal sinusitis	13.6	IL13, IL5, IGHE, RNASE3
48	peripheral t-cell lymphoma	13.5	MS4A1, CD5, IL2RA, TNFRSF8, PDGFRA
49	desmoid tumor	13.5	KIT, IFNA1, PDGFRA, PDGFRB, ACTC1
50	posterior uveitis	13.5	IL2RA, IGHE, IFNA1

Approved drugs:

Drug clinical trials:

Genetic tests related to mastocytosis:

id	Genetic test	Affiliating Genes
1	Mastocytosis clinical/research	KIT

MalaCards organs/tissues related to mastocytosis:

²²

MGI Mouse Phenotypes related to mastocytosis:

²⁵ (show all 22)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.3	MITF, FGFR1, TKT
2	respiratory system phenotype	MP:0005388	10.0	CBL, STAT5B, SLC27A4
3	liver/biliary system phenotype	MP:0005370	9.8	KIT, CBL, TET2, CTSG, STAT5A
4	no phenotypic analysis	MP:0003012	9.6	FGFR1, MITF, ITGAX, CD5, CD69, PIK3R1
5	reproductive system phenotype	MP:0005389	9.5	RARA, CBL, PIK3CA, STAT3, PDGFRA, IL13
6	digestive/alimentary phenotype	MP:0005381	9.0	KIT, RARA, KITLG, RASGRP4, BCL2, CD63
7	skeleton phenotype	MP:0005390	9.0	FGFR1, CBL, TPSB2, KIT, TGFA, STAT3
8	normal phenotype	MP:0002873	8.8	PIK3R1, FGFR1, KLRG1, PDGFRA, NRAS, NTRK3
9	adipose tissue phenotype	MP:0005375	8.8	PIK3CA, PIK3R1, CBL, PDGFRB, HDC, STAT5B
10	renal/urinary system phenotype	MP:0005367	8.5	PDGFRB, TET2, IL5RA, TKT, FGFR1, CD63
11	vision/eye phenotype	MP:0005391	8.0	PIK3CA, MITF, BCL2, RARA, VIM, KITLG
12	integument phenotype	MP:0010771	7.8	CBL, PTGDS, NRAS, PDGFRA, TGFA, STAT5A
13	mortality/aging	MP:0010768	7.5	NTRK3, CPA3, JAK2, CTSG, RAC2, SLC18A2
14	muscle phenotype	MP:0005369	7.4	BCL2, RARA, VIM, KIT, PIK3R1, PIK3CA
15	hematopoietic system phenotype	MP:0005397	7.2	RAC2, IL9, IL5RA, BCL2, BCL2L1, CD69
16	immune system phenotype	MP:0005387	7.1	RAC2, CMA1, CD5, ITGAX, MITF, FGFR1
17	behavior/neurological phenotype	MP:0005386	6.9	OSM, CBL, PTGDS, PIK3CA, NTRK3, PDGFRA
18	growth/size phenotype	MP:0005378	6.7	IL13, FGFR1, MITF, JAK2, BCL2L1, RARA
19	tumorigenesis	MP:0002006	6.2	IL5RA, F3, TET2, PTGDS, NRAS, PDGFRA
20	cardiovascular system phenotype	MP:0005385	6.2	RARA, VIM, KITLG, KIT, TET2, PIK3R1
21	homeostasis/metabolism phenotype	MP:0005376	4.8	PDGFRB, ACTC1, STAT3, STAT5A, STAT5B, SLC27A4
22	cellular phenotype	MP:0005384	4.6	RASGRP4, RAC2, BCL2, BCL2L1, MS4A1, JAK2

Articles related to mastocytosis:

(show top 50)    (show all 144)

id	Title	Authors	Year	Affiliating Genes
1	IL-5 receptor I+ levels in patients with marked eosino philia or mastocytosis. (21762978)	Wilson T.M.... Klion A.D.	2011	IL5RA
2	Variable presence of KITD816V in clonal haematologica l non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNM D). (20112369)	Sotlar K.... Horny H.P.	2010	KIT
3	High frequency of concomitant mastocytosis in patient s with acute myeloid leukemia exhibiting the transforming KIT mutation D816V. (20471335)	Fritsche-Polanz R.... Valent P.	2010	KIT
4	Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patie nts. (19541349)	Escribano L.... Orfao A.	2009	KIT
5	Utility of the World Heath Organization classification criteria for the diagnosis of systemic mastocytosis in bone marrow. (19116630)	Johnson M.R.... Huh Y.O.	2009	KIT
6	Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation. (18567837)	Hoffmann K.M.... Urban C.	2008	KIT
7	Systemic mastocytosis associated with chronic idiopathic myelofibrosis: a distinct subtype of systemic mastocytosis associated with a [corrected] clonal hematological non-mast [corrected] cell lineage disorder carrying the activating point mutations KITD816V and JAK2V617F. (18165278)	Sotlar K.... Horny H.P.	2008	KIT, JAK2
8	An unusual cause of spontaneous bleeding in the intensive care unit - mastocytosis: a case report. (18706126)	Koenig M.... CathAcbras P.	2008	F3
9	Detection of the c-kit D816V mutation in systemic mastocytosis by allele-specific PCR. (17526803)	Schumacher J.A.... Lim M.S.	2008	KIT
10	Mast cells and mastocytosis. (18684881)	Metcalfe D.D.	2008	KIT, KITLG, C6orf25
11	KIT and mastocytosis. (18566536)	Lim K.H.... Tefferi A.	2008	KIT
12	CD203c is overexpressed on neoplastic mast cells in systemic mastocytosis and is upregulated upon IgE receptor cross-linking. (19144265)	Hauswirth A.W.... Valent P.	2008	ENPP3
13	Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. (17259998)	Nakagomi N.... Hirota S.	2007	KIT, STAT5A
14	The origin of neoplastic mast cells in systemic mastocytosis with AML1/ETO-positive acute myeloid leukemia. (17976525)	Nagai S.... Kurokawa M.	2007	KIT
15	Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels. (17449330)	Akin C.... Metcalfe D.D.	2007	TPSAB1, TPSB2
16	Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: a study of the Spanish network on mastocytosis (REMA). (17883734)	GonzA!lez de Olano D.... Escribano Mora L.	2007	IGHE
17	Kit: molecule of interest for the diagnosis and treatment of mastocytosis and other neoplastic disorders. (17691909)	Patnaik M.M.... Pardanani A.	2007	KIT
18	Mastocytosis and allergy. (17873577)	Greenhawt M.... Akin C.	2007	TPSAB1
19	Dasatinib (BMS-354825) inhibits KITD816V, an imatinib -resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosis. (16434489)	Shah N.P.... Akin C.	2006	KIT
20	Systemic mastocytosis (SM) associated with chronic eosinophilic leukemia (SM-CEL): detection of FIP1L1/PDGFRalpha, classification by WHO criteria, and response to therapy with imatinib. (16406018)	Florian S.... Valent P.	2006	RNASE3
21	Pathogenesis, clinical features, and treatment advances in mastocytosis. (16781490)	Pardanani A.... Valent P.	2006	PDGFRA, KIT, KITLG
22	Establishment of a murine model of aggressive systemic mastocytosis/mast cell leukemia. (16543062)	Demehri S.... Deininger M.W.	2006	KIT
23	KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. (16741248)	Garcia-Montero A.C.... Orfao A.	2006	KIT, KITLG
24	Sensitive detection of KIT D816V in patients with mastocytosis. (17040960)	Tan A.... Dobrovic A.	2006	KIT
25	Case of intraspinal epidural tumor developing after systemic mastocytosis with marked osteosclerosis and myelofibrosis (16440779)	Ohnishi K.... Kohgo Y.	2005	IFNA2
26	Interferon treatment for hypereosinophilic syndromes and systemic mastocytosis. (15995323)	Butterfield J.H.	2005	IFNA1
27	c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation. (15858149)	Yanagihori H.... Kaneko F.	2005	KIT
28	Splenic mastocytosis: report of two cases and detection of the transforming somatic C-KIT mutation D816V. (15160946)	Wimazal F.... Valent P.	2004	KIT
29	Use of interferon alpha-2b and prednisolone in the treatment of severe intractable diarrhea in a child with systemic mastocytosis. (14651557)	Caksen H.... Erol M.	2003	IFNA2
30	CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. (12842979)	Pardanani A.... Tefferi A.	2003	PDGFRA, PDGFRB, FIP1L1
31	Abnormal expression of CD antigens in mastocytosis. (11919422)	Escribano L.... Orfao A.	2002	IL2RA
32	A case of 'smouldering' mastocytosis with high mast c ell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val. (11377687)	Jordan J.H.... Valent P.	2001	KIT
33	Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. (11380399)	Fritsche-Polanz R.... Fodinger M.	2001	KIT
34	Utility of flow cytometric analysis of mast cells in the diagnosis and classification of adult mastocytosis. (11377681)	Escribano L.... Orfao A.	2001	IL2RA
35	Immunohistochemical properties of bone marrow mast cells in systemic mastocytosis: evidence for expression of CD2, CD117/Kit, and bcl-x(L). (11381374)	Jordan J.H.... Valent P.	2001	KIT, MPO
36	Mastocytosis: review of clinical and experimental asp ects. (11764303)	Hartmann K.... Henz B.M.	2001	KITLG
37	Myelomastocytic overlap syndromes: biology, criteria, and relationship to mastocytosis. (11377685)	Valent P.... Bennett J.M.	2001	KIT
38	Mastocytosis cells bearing a c-kit activating point mutation are characterized by hypersensitivity to stem cell factor and increased apoptosis. (10792276)	Dror Y.... Freedman M.H.	2000	KITLG
39	Recent advances in mastocytosis research. Summary of the Vienna Mastocytosis Meeting 1998. (10529583)	Valent P.... Horny H.P.	1999	KIT
40	Elevated expression of the proto-oncogene c-kit in patients with mastocytosis. (9519779)	Nagata H.... Metcalfe D.D.	1998	KIT
41	Detection of mi transcription factor (MITF) mRNA in a case of myelodysplastic syndrome and bone marrow mastocytosis. (9553202)	Wimazal F.... Valent P.	1998	KIT, MITF
42	Murine cutaneous mastocytosis and epidermal melanocytosis induced by keratinocyte expression of transgenic stem cell factor. (9584135)	Kunisada T.... Longley B.J.	1998	KITLG
43	Clinical stable systemic mastocytosis with interferon alpha-2b therapy. (10497631)	HA1bner C.... Stremmel W.	1997	IFNA2
44	Ichthyosis congenita type IV: a new case resembling diffuse cutaneous mastocytosis. (9115920)	Brusasco A.... Caputo R.	1997	SLC27A4
45	Histamine metabolism in mastocytosis patients treated with interferon alpha-2b. (8696923)	Granerus G.... Roupe G.	1996	IFNA2
46	Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. (8589724)	Longley B.J.... Modlin I.	1996	KIT
47	Treatment of three patients with systemic mastocytosis with interferon alpha-2b. (8882964)	Worobec A.S.... Metcalfe D.D.	1996	IFNA2
48	The alpha form of human tryptase is the predominant type present in blood at baseline in normal subjects and is elevated in those with systemic mastocytosis. (8675637)	Schwartz L.B.... Metcalfe D.D.	1995	TPSAB1
49	Clinical advances in mastocytosis. (8788545)	Genovese A.... Marone G.	1995	KITLG
50	Inhibition of mediator release in systemic mastocytosis is associated with reversal of bone changes. (2270775)	Graves L.... Lukert B.P.	1990	BGLAP

Genes related to mastocytosis according to GeneCards:

(show top 50)    (show all 72)

id	Symbol	Description	Score	GeneCards Section Context
1	KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	11.0	Publications
2	KITLG	KIT ligand	11.0	Publications
3	TPSAB1	tryptase alpha/beta 1	11.0	Publications
4	IFNA2	interferon, alpha 2	11.0	Publications
5	HDC	histidine decarboxylase	11.0	Publications
6	STAT5A	signal transducer and activator of transcription 5A	11.0	Publications
7	PDGFRA	platelet-derived growth factor receptor, alpha polypeptide	11.0	Publications
8	IL2RA	interleukin 2 receptor, alpha	11.0	Publications
9	PDGFRB	platelet-derived growth factor receptor, beta polypeptide	11.0	Publications
10	HBM	hemoglobin, mu	11.0
11	BSPH1	binder of sperm protein homolog 1	11.0
12	SLC27A4	solute carrier family 27 (fatty acid transporter), member 4	11.0	Publications
13	KLRG1	killer cell lectin-like receptor subfamily G, member 1	11.0	Publications
14	SLC18A2	solute carrier family 18 (vesicular monoamine), member 2	11.0	Publications
15	JAK2	Janus kinase 2	11.0	Publications
16	NTRK3	neurotrophic tyrosine kinase, receptor, type 3	11.0	Publications
17	CHIC2	cysteine-rich hydrophobic domain 2	11.0	Publications
18	CD5	CD5 molecule	11.0	Publications
19	ITGAX	integrin, alpha X (complement component 3 receptor 4 subunit)	11.0	Publications
20	MS4A1	membrane-spanning 4-domains, subfamily A, member 1	11.0	Publications
21	SLC18A1	solute carrier family 18 (vesicular monoamine), member 1	11.0	Publications
22	TET2	tet methylcytosine dioxygenase 2	11.0	Publications
23	CD2	CD2 molecule	11.0	Publications
24	RAC2	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	11.0	Publications
25	OSM	oncostatin M	11.0	Publications
26	NRAS	neuroblastoma RAS viral (v-ras) oncogene homolog	11.0	Publications
27	FIP1L1	FIP1 like 1 (S. cerevisiae)	11.0	Publications
28	IL9	interleukin 9	11.0
29	FCER2	Fc fragment of IgE, low affinity II, receptor for (CD23)	11.0	Publications
30	ENPP3	ectonucleotide pyrophosphatase/phosphodiesterase 3	11.0	Publications
31	CTSG	cathepsin G	11.0	Publications
32	STAT5B	signal transducer and activator of transcription 5B	11.0	Publications
33	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	11.0	Publications
34	RNASE3	ribonuclease, RNase A family, 3	11.0	Publications
35	CD69	CD69 molecule	11.0
36	RARA	retinoic acid receptor, alpha	11.0	Publications
37	BGLAP	bone gamma-carboxyglutamate (gla) protein	11.0	Publications
38	TGFA	transforming growth factor, alpha	11.0	Publications
39	PIK3R1	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	11.0	Publications
40	MPO	myeloperoxidase	11.0	Publications
41	IGHE	immunoglobulin heavy constant epsilon	11.0	Publications
42	TKT	transketolase	11.0	Publications
43	MITF	microphthalmia-associated transcription factor	11.0	Publications
44	STAT3	signal transducer and activator of transcription 3 (acute-phase response factor)	11.0	Publications
45	IL13	interleukin 13	11.0	Publications
46	PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	11.0
47	FGFR1	fibroblast growth factor receptor 1	11.0
48	IL5	interleukin 5 (colony-stimulating factor, eosinophil)	11.0
49	IFNA1	interferon, alpha 1	11.0	Publications
50	RASGRP4	RAS guanyl releasing protein 4	11.0	Publications, Expressions

Pathways related to mastocytosis according to GeneDecks:

(show top 50)    (show all 220)

id	Pathway	Score	Top Affiliating Genes
1	Actin-Based Motility by Rho Family GTPases36	10.4	ITGAX, IL9, RAC2
2	Sorafenib Pharmacodynamics34	10.1	PDGFRB, PIK3R1, PIK3CD, PIK3CA
3	Development PDGF signaling via STATs and NF-kB10	10.1	PDGFRB, PDGFRA, PIK3CD, STAT5A, STAT5B, PIK3CA
4	Development_PDGF signaling via STATs and NF-kB41	10.1	PIK3CD, PIK3CA, PIK3R1, JAK2, STAT5B, STAT5A
5	Acute myeloid leukemia20	10.1	KIT, STAT5A, RARA, STAT5B, PIK3R1, PIK3CA
6	PTEN Pathway36	9.9	IL9, NTRK3, NRAS, KIT, IL2RA, PDGFRB
7	Immune response IL-23 signaling pathway10	9.8	STAT5A, PIK3CD, PIK3CA, PIK3R1, STAT3, STAT5B
8	Rac1 Pathway36	9.5	PDGFRB, NRAS, IL2RA, NTRK3, IL9, KITLG
9	PPAR Pathway36	9.5	KIT, FGFR1, IL2RA, PDGFRB, IL3, IL9
10	Apoptotic Pathways in Synovial Fibroblasts36	9.4	KIT, FGFR1, TGFA, IL9, PDGFRB, IL3
11	p70S6K Signaling36	9.3	IL9, NTRK3, PDGFRA, PDGFRB, TGFA, IL3
12	14-3-3 Induced Intracellular Signaling36	9.3	CBL, NRAS, PDGFRB, PIK3R1, IL9, PDGFRA
13	Ras Pathway36	9.3	FGFR1, TGFA, ITGAX, PIK3R1, KIT, RAC2
14	Akt Signaling36	9.3	OSM, PDGFRB, PDGFRA, PF4, NRAS, NTRK3
15	Immune response IL-10 signaling pathway10	9.2	PIK3CA, STAT3, BCL2L1, BCL2, STAT5A, PIK3R1
16	Renin-Angiotensin Pathway36	9.2	FGFR1, IL2RA, IL3, IL9, NTRK3, JAK2
17	Immune response_IL-10 signaling pathway41	9.2	BCL2L1, STAT3, STAT5A, STAT5B, PIK3R1, BCL2
18	eIF2 Pathway36	9.2	PIK3R1, IL2RA, FGFR1, IL3, IL9, NTRK3
19	GPCR Pathway36	9.1	PIK3R1, NTRK3, NRAS, PDGFRA, PDGFRB, TGFA
20	IL-6 Pathway36	9.1	CD2, PF4, PIK3R1, IL5, IL9, STAT3
21	Paxillin Interactions36	9.0	PIK3R1, PDGFRB, PDGFRA, KITLG, ITGAX, FGFR1
22	Measles20	9.0	IL2RA, STAT5B, PIK3CD, STAT5A, STAT3, IFNA2
23	Activation of PKC through GPCR36	9.0	IL2RA, PDGFRB, PDGFRA, IL9, IL3, FGFR1
24	p53 Mediated Apoptosis36	9.0	FGFR1, TGFA, PDGFRA, IL9, IL3, IL2RA
25	JNK Pathway36	8.9	BCL2, KITLG, CD2, FGFR1, IL2RA, IL3
26	Development_Prolactin receptor signaling41	8.9	STAT5B, PIK3CD, PIK3CA, PIK3R1, BCL2L1, JAK2
27	Development Prolactin receptor signaling10	8.9	JAK2, PIK3CD, STAT5B, STAT5A, STAT3, CBL
28	IL-3 Pathway36	8.6	BCL2L1, JAK2, IL3, NRAS, STAT3, STAT5A
29	Hematopoietic cell lineage20	8.6	IL5, IL3, IL2RA, IL1B, FCER2, CD5
30	Mitochondrial Apoptosis36	8.6	PDGFRA, BCL2, BCL2L1, FGFR1, IL2RA, IL3
31	Cellular Apoptosis Pathway36	8.6	TGFA, KIT, KITLG, BCL2, PDGFRB, PDGFRA
32	Pathways in cancer20	8.4	STAT5A, STAT3, TGFA, PDGFRA, NRAS, CBL
33	Pancreatic Adenocarcinoma36	8.3	STAT5B, STAT5A, STAT3, TGFA, PDGFRB, KIT
34	DHA Signaling36	7.8	PIK3R1, TGFA, PDGFRB, IL9, NTRK3, PDGFRA
35	TGF-Beta Pathway36	7.8	NRAS, IL9, IL13, TGFA, PIK3R1, IL2RA
36	MAPK Signaling36	7.7	IL9, NTRK3, NRAS, PDGFRA, PDGFRB, TGFA
37	Cytokine-cytokine receptor interaction20	7.7	OSM, PDGFRB, IL13, KITLG, KIT, IL1B
38	Jak-STAT signaling pathway20	7.6	OSM, STAT5B, STAT5A, STAT3, CBL, IFNA2
39	Endothelin-1 Signaling Pathway36	7.6	OSM, PDGFRB, PDGFRA, PF4, NRAS, NTRK3
40	MAPK Family Pathway36	7.6	FGFR1, IL13, IL1B, IL13RA2, TGFA, NRAS
41	PEDF Induced Signaling36	7.4	NRAS, IL9, IL5, PF4, IL1B, IL13
42	PAK Pathway36	7.3	OSM, TGFA, PDGFRB, PDGFRA, PF4, NRAS
43	JAK-STAT Pathway36	7.3	STAT5B, STAT5A, STAT3, TGFA, PDGFRB, PDGFRA
44	ERK Signaling36	7.2	NTRK3, NRAS, STAT3, PDGFRA, PDGFRB, TGFA
45	STAT3 Pathway36	7.0	OSM, IL13, IL13RA2, IL1B, IL2RA, IL5
46	Rho Family GTPases36	6.9	VIM, KITLG, KIT, PIK3R1, RAC2, BCL2
47	p38 Signaling36	6.7	PF4, NRAS, NTRK3, TNFRSF8, IL9, IL5RA
48	Tec Kinases Signaling36	6.7	NTRK3, CD2, JAK2, BCL2, KITLG, PIK3R1
49	Antioxidant Action of Vitamin-C36	6.6	BCL2, RAC2, KIT, JAK2, CD2, FGFR1
50	Molecular Mechanisms of Cancer36	6.6	OSM, KITLG, PIK3R1, RARA, RAC2, BCL2

Compounds related to mastocytosis according to GeneDecks:

(show top 50)    (show all 241)

id	Compound	Score	Top Affiliating Genes
1	cyclophosphamide32 34 9 9	13.4	MS4A1
2	budesonide32 42 9 9	13.1	KITLG, BGLAP, IGHE, RNASE3, IL5RA
3	rapamycin32 42	10.9	KIT, KITLG, VIM, JAK2, PDGFRA, PDGFRB
4	estrogen32	9.8	TGFA, ACTC1, PDGFRB, PDGFRA, RNASE3, IGHE
5	aspartate32	9.7	VIM, RARA, CTSG, STAT3, NTRK3, STAT5A
6	pge232	9.6	PF4, HDC, OSM, TGFA, IL5, IL13
7	ag-129632	9.5	IL3, BCL2L1, KIT, PDGFRB, STAT5A, KITLG
8	ly29400232	9.2	STAT5B, STAT5A, STAT3, PIK3CA, PIK3R1, RARA
9	epinephrine32 9 18 9	12.1	TGFA, CTSG, F3, KITLG, RNASE3, JAK2
10	agar32	9.0	PIK3CA, PIK3R1, KITLG, VIM, RARA, JAK2
11	12-o-tetradecanoylphorbol 13-acetate32	9.0	IL9, RARA, JAK2, MITF, FGFR1, IL3
12	h2o232	8.9	HDC, PDGFRB, PIK3R1, KITLG, BGLAP, MPO
13	gp 13032	8.9	OSM, STAT5B, STAT5A, TGFA, PIK3R1, KIT
14	bromodeoxyuridine32	8.8	FGFR1, TGFA, TKT, PDGFRB, IL9, IL13
15	phosphotyrosine32	8.6	IL3, OSM, STAT5B, PIK3CA, PIK3R1, KIT
16	sb 20358032 42	9.6	STAT5A, VIM, BGLAP, BCL2L1, FCER2, IL13
17	cysteine32	8.5	SLC18A2, FCER2, TGFA, TKT, PDGFRB, PF4
18	etoposide32 42 9 9	11.2	PF4, IFNA2, TGFA, IL3, BCL2L1, BCL2
19	cyclosporin a32 42	9.2	PIK3CA, KITLG, BGLAP, JAK2, CD2, CD69
20	gm-csf32	8.2	IL5, STAT5A, TGFA, IL3, IL1B, IL13
21	cytarabine32 34 9 9	11.1	MPO, BCL2L1, VIM, IL3, KITLG, IFNA1
22	indomethacin32 9 9	10.1	ITGAX, PF4, IL13, TGFA, STAT5A, OSM
23	nitric oxide32 9 18 9	11.0	STAT5A, OSM, SLC18A2, CD69, RNASE3, CTSG
24	5fluorouracil32	8.0	IL2RA, PIK3CA, KIT, KITLG, BCL2, BCL2L1
25	hydrocortisone32 9 9	9.9	KITLG, STAT5A, VIM, BGLAP, TGFA, FCER2
26	rantes32	7.8	IL9, IL2RA, IL3, IL5, PF4, IFNA1
27	heparin32 9 18 9	10.6	SRGN, CTSG, RNASE3, TGFA, CPA3, TPSAB1
28	lactate32	7.6	IGHE, IL13, IL3, KITLG, PF4, CTSG
29	testosterone32 9 18 9	10.6	IL3, IL2RA, IL5, FGFR1, BGLAP, RARA
30	paraffin32	7.6	TKT, ACTC1, KITLG, VIM, CMA1, BGLAP
31	fmlp32	7.5	VIM, RAC2, MPO, CD69, ITGAX, FCER2
32	arachidonic acid32 9 18 9	10.3	BCL2L1, ITGAX, PTGDS, IFNA2, IL1B, IL13
33	calcium32 9 18 9	10.2	PIK3CD, HDC, MS4A1, BGLAP, CMA1, RAC2
34	pd 98,05932	7.2	OSM, STAT5B, STAT5A, PIK3CA, PIK3R1, KIT
35	imatinib32 34 9 9	10.1	PIK3CA, PIK3R1, KIT, KITLG, RARA, BCL2
36	phosphatidylinositol32	7.0	CD69, CD63, FGFR1, IL13, IL2RA, IL3
37	lipid32	6.9	RAC2, RARA, VIM, KITLG, PIK3R1, PIK3CA
38	vegf32	6.9	PIK3CA, PIK3R1, KIT, KITLG, BGLAP, BCL2
39	alanine32	6.8	PF4, PDGFRB, CTSG, CBL, F3, IFNA1
40	wortmannin32 42	7.8	PIK3CD, IL3, ENPP3, CBL, PDGFRB, STAT3
41	creatinine32	6.8	F3, PTGDS, CTSG, PF4, RNASE3, ACTC1
42	thymidine32 18	7.8	OSM, STAT5A, FCER2, IL13, IL1B, IL2RA
43	genistein32 9 18 9	9.4	FCER2, IL1B, IL2RA, IL3, IL5, IL9
44	actinomycin d32	6.4	HDC, STAT3, TGFA, PIK3CA, KIT, KITLG
45	histamine32 18	6.9	PIK3CA, KIT, KITLG, VIM, PF4, RNASE3
46	dexamethasone32 42 34 9 9	9.7	PIK3CA, PIK3R1, KITLG, VIM, RARA, BGLAP
47	cycloheximide32	5.3	IL3, IL1B, IL13, FCER2, ITGAX, CD69
48	tyrosine32	4.8	IL3, STAT3, STAT5A, STAT5B, OSM, SLC18A1
49	serine32	4.8	PIK3CD, PIK3CA, PIK3R1, KIT, KITLG, VIM
50	retinoic acid32 42 18	5.7	PDGFRA, RNASE3, NTRK3, CTSG, PTGDS, PDGFRB

Cellular components related to mastocytosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	GO:005943	10.2	PIK3CA, PIK3R1
2	external side of plasma membrane	GO:009897	9.6	FCER2, ITGAX, CD5, CD69, CD2, KIT
3	extracellular region	GO:005576	6.5	IL1B, RNASE3, FCER2, FGFR1, ISM1, CD2
4	extracellular space	GO:005615	6.4	OSM, IL5, IL3, IL1B, IL13RA2, IL13
5	plasma membrane	GO:005886	6.3	NRAS, CTSG, TNFRSF8, CBL, F3, PDGFRA

Biological processes related to mastocytosis according to GeneDecks:

(show all 31)

id	Name	GO ID	Score	Top Affiliating Genes
1	luteinization	GO:001553	10.6	STAT5B, STAT5A, PDGFRA
2	positive regulation of phospholipase C activity	GO:010863	10.6	KIT, PDGFRB, FGFR1, PDGFRA
3	natural killer cell differentiation	GO:001779	10.5	PIK3CD, STAT5A, STAT5B
4	JAK-STAT cascade involved in growth hormone signaling pathway	GO:060397	10.5	STAT5B, STAT5A, STAT3, JAK2
5	peptidyl-tyrosine phosphorylation	GO:018108	10.5	STAT5A, PDGFRB, PDGFRA, FGFR1, JAK2, KIT
6	JAK-STAT cascade	GO:007259	10.5	JAK2, STAT3, STAT5A, STAT5B
7	growth hormone receptor signaling pathway	GO:060396	10.5	JAK2, PIK3R1, STAT3
8	regulation of multicellular organism growth	GO:040014	10.4	STAT3, STAT5A, STAT5B, PIK3CA
9	cardiac myofibril assembly	GO:055003	10.3	PDGFRA, PDGFRB, ACTC1
10	development of secondary female sexual characteristics	GO:046543	10.3	STAT5B, STAT5A
11	phosphatidylinositol-mediated signaling	GO:048015	10.2	PDGFRB, FGFR1, PIK3CA, PIK3R1, PDGFRA
12	regulation of steroid metabolic process	GO:019218	10.2	STAT5B, STAT5A
13	positive regulation of phosphatidylinositol 3-kinase cascade	GO:014068	10.2	CBL, PDGFRB, KIT, JAK2, FGFR1, PDGFRA
14	tyrosine phosphorylation of Stat1 protein	GO:042508	10.0	OSM, JAK2
15	leukocyte migration	GO:050900	10.0	NRAS, ITGAX, CD2, PIK3CA, PIK3R1
16	positive regulation of survival gene product expression	GO:045885	9.9	STAT5B, STAT5A, IL3
17	positive regulation of peptidyl-tyrosine phosphorylation	GO:050731	9.9	JAK2, IL3, OSM, IL5, KITLG
18	positive regulation of tyrosine phosphorylation of Stat5 protein	GO:042523	9.8	KIT, JAK2, IL3
19	positive regulation of interleukin-2 biosynthetic process	GO:045086	9.7	STAT5A, STAT5B, IL1B
20	ovarian follicle development	GO:001541	9.6	BCL2, KITLG, KIT, BCL2L1
21	positive regulation of smooth muscle cell migration	GO:014911	9.6	F3, BCL2, PDGFRB
22	response to ethanol	GO:045471	9.5	STAT5B, STAT5A, BCL2, IL13, ACTC1, STAT3
23	cell proliferation	GO:008283	9.5	CD5, RASGRP4, KITLG, BCL2L1, OSM, STAT3
24	inflammatory response	GO:006954	9.4	IL13, IL9, KLRG1, IFNA2, IL1B, PIK3CD
25	response to estradiol stimulus	GO:032355	9.1	STAT5B, STAT3, F3, IL1B, RARA
26	positive regulation of cell proliferation	GO:008284	9.1	JAK2, KIT, RAC2, RARA, BCL2L1, PDGFRA
27	immune response	GO:006955	9.0	PF4, IL3, IL9, MS4A1, IL13, OSM
28	blood coagulation	GO:007596	9.0	CD63, ITGAX, IFNA2, F3, SRGN, NRAS
29	cytokine-mediated signaling pathway	GO:019221	9.0	KIT, STAT5B, STAT5A, STAT3, PF4, IFNA2
30	signal transduction	GO:007165	8.4	IL5RA, TNFRSF8, IL13, IL1B, IL13RA2, JAK2
31	anti-apoptosis	GO:006916	8.2	PIK3CA, BCL2, TGFA, IL1B, MPO, BCL2L1

Molecular functions related to mastocytosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	insulin receptor substrate binding	GO:043560	9.9	PIK3CA, PIK3R1, JAK2
2	cytokine activity	GO:005125	8.5	KITLG, OSM, IFNA2, IL9, IL5, IL3
3	growth factor activity	GO:008083	8.5	IL3, IL9, TGFA, OSM, KITLG, IL5
4	protein binding	GO:005515	5.8	JAK2, TGFA, BCL2L1, STAT5A, STAT5B, BCL2