Systemic Mastocytosis malady

NIH Rare Diseases: Systemic mastocytosis is a condition caused by the accumulation of mast cells in more than one part of the body. Mast cells contain substances such as histamine that regulate allergic reactions. In systemic mastocytosis, mast cells may build up in the bone marrow, internal organs, or in the skin. This condition is usually diagnosed in adults. Treatment is generally based on a person's symptoms, but it may include antihistamines (to prevent the effect of mast cell histamine) or chemotherapy for more aggressive forms.There are several different types of systemic mastocytosis. Indolent systemic mastocytosis develops slowly, while aggressive systemic mastocytosis develops more rapidly. Another form, called systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD), is characterized by the presence of several types of blood disorders. Mast cell leukemia is a rare form of systemic mastocytosis.³⁰

MalaCards: Systemic Mastocytosis, also known as systemic mastocytosis with associated hemotologic non-mast cell lineage disease (sm-ahnmd), is related to aggressive systemic mastocytosis and mast cell neoplasm. An important gene associated with Systemic Mastocytosis is KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), and among its related pathways are Actin-Based Motility by Rho Family GTPases and EGFR Inhibitor Pathway, Pharmacodynamics. The compounds ag-1296 and threonine 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 liver/biliary system.

Aliases & Descriptions:

systemic mastocytosis 6 30 8 systemic mastocytosis with associated hemotologic non-mast cell lineage disease (sm-ahnmd) 30 systemic tissue mast cell disease 6 smcd - systemic mast cell disease 6 agressive systemic mastocytosis 30 indolent systemic mastocytosis 30

systemic mast cell disease 30 mastocytosis, systemic 43 mastocytosis systemic 32 mast cell neoplasm 43 mast cell leukemia 30 smcd 30

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

(show top 50)    (show all 284)

id	Related Disease	Score	Top Affiliating Genes
1	aggressive systemic mastocytosis	33.9	KIT, KITLG, IFNA2, STAT5A
2	mast cell neoplasm	33.8	KIT, KITLG, NTRK3, HDC
3	indolent systemic mastocytosis	33.6	KIT, KITLG
4	myelofibrosis	31.2	KIT, JAK2, STAT5A, STAT5B
5	urticaria pigmentosa	30.8	KIT, KITLG, IL2RA
6	mast-cell leukemia	30.6	PIK3CD, KIT, KITLG, ISM1
7	sm-ahnmd	29.7	KIT, KITLG, JAK2, IL2RA, IFNA2, TPSAB1
8	mast-cell sarcoma	29.5	KIT, KITLG, MPO, ISM1, FIP1L1
9	urticaria	29.3	KIT, KITLG, FCER2, IL2RA, ENPP3, IFNA2
10	hypereosinophilic syndrome	28.3	KIT, FIP1L1, PDGFRA, PDGFRB, TGFA
11	myelodysplastic syndrome	27.6	KIT, KITLG, MPO, JAK2, NRAS, PDGFRA
12	t-cell leukemia	27.5	FCER2, IL2RA, TKT, STAT3, STAT5A
13	osteoporosis	26.8	BGLAP, IL2RA, IFNA1, IFNA2, STAT3, HDC
14	b-cell lymphomas	25.8	KIT, MS4A1, MPO, JAK2, CD5, FCER2
15	eosinophilia	25.4	CHIC2, MPO, JAK2, FIP1L1, FCER2, IL2RA
16	mastocytosis	25.1	PIK3CD, PIK3R1, KIT, KITLG, RAC2, BGLAP
17	hypertension	23.3	PIK3R1, KIT, BGLAP, MPO, JAK2, IFNA1
18	asthma	22.8	PIK3CD, PIK3R1, KIT, KITLG, BGLAP, MS4A1
19	acute myeloid leukemia	22.7	PIK3CD, PIK3R1, KIT, KITLG, RAC2, CHIC2
20	myeloid leukemia	22.4	PIK3CD, PIK3R1, KIT, KITLG, RAC2, CHIC2
21	leukemia	21.0	PIK3CD, PIK3R1, KIT, KITLG, RAC2, BGLAP
22	cutaneous mastocytosis	13.7	KIT, KITLG, TPSAB1
23	gastrointestinal stromal tumor, somatic	13.7	KIT, PDGFRA
24	piebaldism	13.6	KIT, KITLG, PDGFRA
25	sarcomatoid renal cell carcinoma	13.6	KIT, IFNA2, PDGFRA
26	myeloproliferative disorder with eosinophilia	13.5	IFNA2, PDGFRB
27	lfflers endocarditis	13.5	FIP1L1, RNASE3
28	granulomatous hepatitis	13.4	IFNA1, IFNA2
29	adenosquamous carcinoma	13.4	KIT, KITLG, PDGFRA
30	lymphomatoid granulomatosis	13.4	IFNA1, IFNA2
31	eosinophilic myeloproliferative disorder	13.4	PDGFRA, PDGFRB
32	neurofibromatosis	13.3	KIT, KITLG, PDGFRA
33	diffuse infiltrative lymphocytosis syndrome	13.3	MS4A1, CD5, FCER2, IL2RA
34	neuroendocrine carcinoma	13.3	KIT, SLC18A2, HDC
35	lymphoproliferative syndrome	13.3	CD5, IL2RA, IFNA2, NRAS
36	merkel cell carcinoma	13.3	KIT, KITLG, FCER2, IFNA2, PDGFRA
37	uterine sarcoma	13.3	KIT, PDGFRA, PDGFRB
38	neurofibroma	13.3	KIT, KITLG, PDGFRA, PDGFRB
39	classic kaposi sarcoma	13.3	IFNA1, IFNA2, OSM
40	peripheral primitive neuroectodermal tumor	13.2	KIT, KITLG, PDGFRA, PDGFRB
41	ocular melanoma	13.2	KIT, NRAS, PDGFRA, PDGFRB
42	perivascular epithelioid cell tumor	13.2	KIT, KITLG, NTRK3
43	factor vii deficiency	13.2	KIT, IFNA1, IFNA2
44	dermatofibrosarcoma protuberans	13.2	KIT, PDGFRA, PDGFRB
45	malignant peripheral nerve sheath tumor	13.2	KIT, NRAS, PDGFRA, PDGFRB
46	autoimmune thrombocytopenic purpura	13.2	IL2RA, IFNA1, IFNA2
47	kimura disease	13.2	KIT, IFNA1, RNASE3
48	myeloid malignancy	13.2	KIT, JAK2, TET2, NRAS
49	sezary's disease	13.2	IL2RA, IFNA1, IFNA2
50	macroglobulinemia	13.2	KITLG, MS4A1, CD5, IFNA1

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to systemic mastocytosis:

²²

MGI Mouse Phenotypes related to systemic mastocytosis:

²⁵ (show all 15)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.2	TKT
2	liver/biliary system phenotype	MP:0005370	10.0	STAT5A, TET2, KIT
3	hematopoietic system phenotype	MP:0005397	9.4	KIT, HDC, PDGFRA, NRAS, TET2, FCER2
4	integument phenotype	MP:0010771	9.0	HDC, OSM, STAT5A, TGFA, PDGFRA, NRAS
5	digestive/alimentary phenotype	MP:0005381	8.9	SLC18A2, TGFA, PDGFRB, PDGFRA, NRAS, FCER2
6	tumorigenesis	MP:0002006	7.8	STAT5B, STAT5A, STAT3, PDGFRA, NRAS, TET2
7	immune system phenotype	MP:0005387	7.8	HDC, STAT5B, STAT5A, STAT3, PDGFRB, PDGFRA
8	adipose tissue phenotype	MP:0005375	7.7	HDC, STAT5B, STAT5A, STAT3, TGFA, TKT
9	mortality/aging	MP:0010768	7.4	PDGFRB, TKT, STAT5A, STAT5B, SLC18A2, PDGFRA
10	vision/eye phenotype	MP:0005391	7.3	STAT3, TGFA, TKT, PDGFRB, NRAS, NTRK3
11	normal phenotype	MP:0002873	6.6	PDGFRA, PDGFRB, STAT3, STAT5A, STAT5B, SLC18A1
12	cellular phenotype	MP:0005384	6.2	TET2, NRAS, PDGFRA, PDGFRB, STAT3, STAT5A
13	homeostasis/metabolism phenotype	MP:0005376	5.9	HDC, SLC18A2, STAT5B, STAT5A, STAT3, PDGFRB
14	cardiovascular system phenotype	MP:0005385	5.9	NRAS, PDGFRA, PDGFRB, TKT, TGFA, STAT3
15	growth/size phenotype	MP:0005378	5.5	TKT, TGFA, STAT3, STAT5A, STAT5B, SLC18A2

Articles related to systemic mastocytosis:

(show top 50)    (show all 64)

id	Title	Authors	Year	Affiliating Genes
1	Identification of oncostatin M as a STAT5-dependent m ediator of bone marrow remodeling in KIT D816V-positive systemic mastocytosis. (21457934)	Hoermann G.... Mayerhofer M.	2011	KIT, OSM
2	Clonal analysis of NRAS activating mutations in KIT-D 816V systemic mastocytosis. (21134978)	Wilson T.M.... Metcalfe D.D.	2011	KIT, NRAS
3	Mast cells from different molecular and prognostic su btypes of systemic mastocytosis display distinct immunophenotypes. (20061010)	Teodosio C.... Orfao A.	2010	KIT
4	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
5	Systemic mastocytosis in adults: a review on prognosi s and treatment based on 342 Mayo Clinic patients and current literature. (20075725)	Pardanani A.... Tefferi A.	2010	KIT
6	Systemic mastocytosis associated with t(8;21)(q22;q22 ) acute myeloid leukemia. (19669220)	Pullarkat S.T.... Brynes R.K.	2009	KIT
7	Successful treatment of KIT D816V-positive, imatinib- resistant systemic mastocytosis with interferon-alpha. (19915299)	Yoshida C.... Sadahira Y.	2009	KIT
8	Expression of activated STAT5 in neoplastic mast cell s in systemic mastocytosis: subcellular distribution and role of the transformi ng oncoprotein KIT D816V. (19893034)	Baumgartner C.... Valent P.	2009	KIT, STAT5B
9	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
10	Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. (19262599)	Tefferi A.... Gilliland D.G.	2009	TET2
11	Systemic mastocytosis involving the gastrointestinal tract: clinicopathologic and molecular study of five cases. (18931652)	Kirsch R.... Riddell R.H.	2008	KIT
12	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
13	Systemic mastocytosis with associated myeloproliferative disease and precursor B lymphoblastic leukaemia with t(13;13)(q12;q22) involving FLT3. (18663058)	Tzankov A.... Dirnhofer S.	2008	KIT
14	Detection of the c-kit D816V mutation in systemic mastocytosis by allele-specific PCR. (17526803)	Schumacher J.A.... Lim M.S.	2008	KIT
15	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
16	CD25 expression on cutaneous mast cells from adult patients presenting with urticaria pigmentosa is predictive of systemic mastocytosis. (18162781)	Hollmann T.J.... Hornick J.L.	2008	IL2RA
17	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
18	Aggressive systemic mastocytosis after germ cell tumor of the ovary: C-KIT mutation documentation in both disease states. (17551405)	Lee J.W.... Jeong D.C.	2007	KIT
19	Genetic and pharmacologic evidence implicating the p85 alpha, but not p85 beta, regulatory subunit of PI3K and Rac2 GTPase in regulating oncogenic KIT-induced transformation in acute myeloid leukemia and systemic mastocytosis. (17483298)	Munugalavadla V.... Kapur R.	2007	KIT, PIK3R1, RAC2
20	The origin of neoplastic mast cells in systemic mastocytosis with AML1/ETO-positive acute myeloid leukemia. (17976525)	Nagai S.... Kurokawa M.	2007	KIT
21	Distinct clonal origins of systemic mastocytosis and associated B-cell lymphoma. (17544505)	Kim Y.... Pullarkat V.	2007	KIT
22	Imatinib mesylate in the treatment of systemic mastocytosis: a phase II trial. (16779792)	Droogendijk H.J.... van Daele P.L.	2006	NTRK3
23	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
24	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
25	Immunohistochemical detection of histidine decarboxylase in neoplastic mast cells in patients with systemic mastocytosis. (16564918)	Krauth M.T.... Valent P.	2006	HDC
26	Establishment of a murine model of aggressive systemic mastocytosis/mast cell leukemia. (16543062)	Demehri S.... Deininger M.W.	2006	KIT
27	An unusual case of systemic mastocytosis associated with chronic lymphocytic leukaemia (SM-CLL). (16505276)	Horny H.P.... Grabbe J.	2006	IL2RA, MS4A1, CD5
28	Vesicular monoamine transporter 2 (VMAT2) expression in hematopoietic cells and in patients with systemic mastocytosis. (16116033)	Anlauf M.... Weihe E.	2006	SLC18A2, SLC18A1
29	Case of intraspinal epidural tumor developing after systemic mastocytosis with marked osteosclerosis and myelofibrosis (16440779)	Ohnishi K.... Kohgo Y.	2005	IFNA2
30	Systemic mastocytosis (15988348)	Fain O.... Lorholary O.	2005	PDGFRA, KIT
31	Systemic mastocytosis (16334197)	Fain O.... Lortholary O.	2005	KIT
32	Systemic mastocytosis: bone marrow pathology, classification, and current therapies. (15995324)	Pardanani A.	2005	PDGFRA, IL2RA
33	Imatinib therapy in clonal eosinophilic disorders, including systemic mastocytosis. (15239393)	Tefferi A.... Pardanani A.	2004	PDGFRA, PDGFRB
34	Increase of bone marrow lymphocytes in systemic mastocytosis: reactive lymphocytosis or malignant lymphoma? Immunohistochemical and molecular findings on routinely processed bone marrow biopsy specimens. (12890804)	Horny H.P.... Valent P.	2003	IL2RA, CD5, FCER2
35	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
36	Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL. (12688351)	Noack F.... Horny H.P.	2003	KITLG
37	Cytogenetic and molecular genetic abnormalities in systemic mastocytosis. (11919394)	Gupta R.... Knight C.L.	2002	KIT, KITLG
38	An immunohistochemical study of the bone marrow lesions of systemic mastocytosis: expression of stem cell factor by lesional mast cells. (12162685)	Akin C.... Metcalfe D.D.	2002	KITLG
39	Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. (12091362)	Yavuz A.S.... Akin C.	2002	KIT
40	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
41	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
42	Tripe palms associated with systemic mastocytosis: th e role of transforming growth factor-alpha and efficacy of interferon-alfa. (9640384)	Chosidow O.... FrancA"s C.	1998	TGFA
43	Systemic mastocytosis: a rare cause of noncirrhotic p ortal hypertension simulating autoimmune cholangitis--report of four cases. (9448186)	Kyriakou D.... Eliopoulos G.D.	1998	IFNA2
44	Multilineage involvement and erythropoietin-'independent' erythroid progenitor cells in a patient with systemic mastocytosis. (9829852)	Afonja O.... Takeshita K.	1998	KIT
45	Clinical stable systemic mastocytosis with interferon alpha-2b therapy. (10497631)	HA1bner C.... Stremmel W.	1997	IFNA2
46	Successful treatment of osteoporosis in systemic mastocytosis with interferon alpha-2b. (8605279)	Weide R.... PflA1ger K.H.	1996	IFNA2
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	Anaphylactic-like syndrome in systemic mastocytosis t reated with alpha-2-interferon. (1853687)	Pardini S.... Longinotti M.	1991	IFNA2
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 systemic mastocytosis according to GeneCards:

(show all 35)

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	STAT5A	signal transducer and activator of transcription 5A	11.0	Publications
4	IFNA2	interferon, alpha 2	11.0	Publications
5	TPSAB1	tryptase alpha/beta 1	11.0	Publications
6	CHIC2	cysteine-rich hydrophobic domain 2	11.0	Publications
7	CD5	CD5 molecule	11.0	Publications
8	MS4A1	membrane-spanning 4-domains, subfamily A, member 1	11.0	Publications
9	ITGAX	integrin, alpha X (complement component 3 receptor 4 subunit)	11.0	Publications
10	SLC18A1	solute carrier family 18 (vesicular monoamine), member 1	11.0	Publications
11	HDC	histidine decarboxylase	11.0	Publications
12	TET2	tet methylcytosine dioxygenase 2	11.0	Publications
13	FCER2	Fc fragment of IgE, low affinity II, receptor for (CD23)	11.0	Publications
14	ENPP3	ectonucleotide pyrophosphatase/phosphodiesterase 3	11.0	Publications
15	FIP1L1	FIP1 like 1 (S. cerevisiae)	11.0	Publications
16	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	11.0	Publications
17	RAC2	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	11.0	Publications
18	SLC18A2	solute carrier family 18 (vesicular monoamine), member 2	11.0	Publications
19	STAT5B	signal transducer and activator of transcription 5B	11.0	Publications
20	NRAS	neuroblastoma RAS viral (v-ras) oncogene homolog	11.0	Publications
21	PDGFRA	platelet-derived growth factor receptor, alpha polypeptide	11.0	Publications
22	OSM	oncostatin M	11.0	Publications
23	ISM1	isthmin 1 homolog (zebrafish)	11.0
24	IL2RA	interleukin 2 receptor, alpha	11.0	Publications
25	PDGFRB	platelet-derived growth factor receptor, beta polypeptide	11.0	Publications
26	RNASE3	ribonuclease, RNase A family, 3	11.0	Publications
27	TKT	transketolase	11.0	Publications
28	JAK2	Janus kinase 2	11.0	Publications
29	IFNA1	interferon, alpha 1	11.0	Publications
30	BGLAP	bone gamma-carboxyglutamate (gla) protein	11.0	Publications
31	TGFA	transforming growth factor, alpha	11.0	Publications
32	MPO	myeloperoxidase	11.0	Publications
33	NTRK3	neurotrophic tyrosine kinase, receptor, type 3	11.0	Publications
34	STAT3	signal transducer and activator of transcription 3 (acute-phase response factor)	11.0	Publications
35	PIK3R1	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	11.0	Publications

Pathways related to systemic mastocytosis according to GeneDecks:

(show top 50)    (show all 163)

id	Pathway	Score	Top Affiliating Genes
1	Actin-Based Motility by Rho Family GTPases36	10.5	ITGAX, RAC2
2	EGFR Inhibitor Pathway, Pharmacodynamics34	10.3	NRAS, STAT5B, STAT5A
3	Immune response_IL-23 signaling pathway41	9.8	STAT5B, STAT5A, PIK3R1, PIK3CD
4	Acute myeloid leukemia20	9.5	PIK3R1, KIT, NRAS, STAT5A, STAT5B, PIK3CD
5	Immune response_Oncostatin M signaling via JAK-Stat in human cells41	9.0	STAT5B, OSM, STAT5A, STAT3, JAK2
6	Immune response Oncostatin M signaling via JAK-Stat in human cells10	9.0	STAT3, STAT5A, OSM, STAT5B, JAK2
7	Breast Cancer Regulation by Stathmin136	9.0	PIK3R1, RAC2, NTRK3, TGFA
8	Development_Thrombopoetin signaling via JAK-STAT pathway41	8.9	STAT5B, OSM, STAT5A, STAT3, JAK2
9	Development Thrombopoetin signaling via JAK-STAT pathway10	8.8	JAK2, STAT3, STAT5A, STAT5B, OSM
10	Molecular Mechanisms of Cancer36	8.7	TGFA, PDGFRA, NRAS, OSM, RAC2, KITLG
11	Tyrosine Kinases / Adaptors3	8.7	JAK2, KITLG, KIT, IL2RA, PDGFRA, PDGFRB
12	Immune response IL-12 signaling pathway10	8.7	STAT5B, STAT5A, JAK2, STAT3, IL2RA
13	Immune response IL-23 signaling pathway10	8.7	STAT3, STAT5B, PIK3R1, JAK2, STAT5A, PIK3CD
14	Ras Pathway36	8.6	NRAS, TGFA, NTRK3, ITGAX, RAC2, KIT
15	Thrombopoietin Pathway36	8.6	STAT5B, STAT5A, STAT3, NRAS, JAK2, PIK3R1
16	CNTF Signaling36	8.6	STAT3, STAT5A, PIK3R1, STAT5B, JAK2, NRAS
17	JNK Pathway36	8.5	PDGFRA, PDGFRB, PIK3R1, NTRK3, IL2RA, KITLG
18	IL-3 Pathway36	8.5	NRAS, STAT5A, STAT5B, PIK3R1, JAK2, STAT3
19	Immune response_IL-12 signaling pathway41	8.4	STAT5A, IL2RA, STAT3, STAT5B, JAK2
20	PPAR Pathway36	8.4	KITLG, KIT, ITGAX, PIK3R1, PDGFRB, NTRK3
21	Development_Prolactin receptor signaling41	8.3	STAT5B, PIK3CD, STAT5A, PIK3R1, STAT3, JAK2
22	Apoptotic Pathways in Synovial Fibroblasts36	8.2	PDGFRA, PDGFRB, TGFA, PIK3R1, KIT, KITLG
23	Development_PDGF signaling via STATs and NF-kB41	8.2	PIK3R1, JAK2, PDGFRA, PDGFRB, STAT3, STAT5A
24	Development PDGF signaling via STATs and NF-kB10	8.2	PDGFRB, PDGFRA, PIK3CD, PIK3R1, JAK2, STAT3
25	p53 Mediated Apoptosis36	8.2	KITLG, TGFA, PIK3R1, KIT, NTRK3, IL2RA
26	Akt Signaling36	8.2	IL2RA, OSM, PDGFRB, KIT, PDGFRA, NRAS
27	Pathways in cancer20	8.2	STAT5A, STAT3, TGFA, PDGFRA, NRAS, RAC2
28	PDGF Pathway36	8.1	JAK2, STAT5A, PIK3R1, PDGFRB, STAT3, NRAS
29	Mitochondrial Apoptosis36	8.1	PDGFRA, TGFA, PDGFRB, NTRK3, IL2RA, KITLG
30	Paxillin Interactions36	8.1	NRAS, PDGFRB, TGFA, NTRK3, ITGAX, KITLG
31	ERK5 Signaling36	8.1	TGFA, PDGFRB, PDGFRA, NRAS, NTRK3, IL2RA
32	Phospholipase-C Pathway36	8.1	TGFA, PDGFRB, PDGFRA, NRAS, ITGAX, NTRK3
33	DHA Signaling36	8.1	IL2RA, KITLG, PDGFRA, TGFA, KIT, PIK3R1
34	eIF2 Pathway36	8.0	KITLG, TGFA, NRAS, NTRK3, IL2RA, PDGFRA
35	Activation of PKC through GPCR36	8.0	TGFA, PDGFRB, NTRK3, IL2RA, RAC2, KITLG
36	Measles20	7.9	IFNA1, STAT5A, PIK3CD, PIK3R1, JAK2, IL2RA
37	Rac1 Pathway36	7.9	TGFA, PDGFRB, PDGFRA, NRAS, ITGAX, NTRK3
38	Antioxidant Action of Vitamin-C36	7.8	KITLG, TGFA, NTRK3, JAK2, KIT, PDGFRB
39	PTEN Pathway36	7.7	PIK3R1, PDGFRB, TGFA, IL2RA, KIT, NRAS
40	Jak-STAT signaling pathway20	7.7	STAT5A, IFNA1, IFNA2, STAT3, IL2RA, OSM
41	PAK Pathway36	7.6	PIK3R1, PDGFRB, IL2RA, NTRK3, NRAS, PDGFRA
42	p70S6K Signaling36	7.5	KIT, KITLG, PDGFRB, PDGFRA, NRAS, NTRK3
43	Signaling Involved in Cardiac Hypertrophy36	7.5	PIK3R1, RAC2, NTRK3, STAT3, JAK2, NRAS
44	GPCR Pathway36	7.0	TGFA, STAT3, KITLG, STAT5A, STAT5B, NTRK3
45	Renin-Angiotensin Pathway36	6.9	PIK3R1, PDGFRA, STAT3, KIT, KITLG, JAK2
46	Pancreatic Adenocarcinoma36	6.9	RAC2, STAT5B, TGFA, STAT3, PIK3R1, KIT
47	ERK Signaling36	6.9	NRAS, NTRK3, ITGAX, KITLG, KIT, PIK3R1
48	Tec Kinases Signaling36	6.6	STAT3, STAT5A, PDGFRB, PDGFRA, NTRK3, IL2RA
49	MAPK Signaling36	6.6	OSM, STAT5B, STAT5A, STAT3, TGFA, PIK3R1
50	JAK-STAT Pathway36	6.1	IFNA1, NTRK3, PDGFRA, NRAS, PDGFRB, TGFA

Compounds related to systemic mastocytosis according to GeneDecks:

(show top 50)    (show all 132)

id	Compound	Score	Top Affiliating Genes
1	ag-129632	10.0	STAT5A, PDGFRB, PDGFRA, KITLG, KIT
2	threonine32	10.0	NTRK3
3	pge232	9.9	TGFA, OSM, HDC, FCER2
4	pkc 41232	9.8	PDGFRB, TKT, STAT5A, PDGFRA, KIT
5	5-deoxy-5-fluorouridine32	9.5	TGFA, IFNA1, IFNA2, TKT
6	su541632	9.4	STAT5A, STAT3, PDGFRB, KIT, KITLG
7	hydroxyurea32 9 9	11.4	JAK2, KITLG, KIT, IFNA1, IFNA2, PDGFRA
8	dasatinib32 34 9 9	12.3	STAT5A, STAT5B, STAT3, PDGFRB, KIT
9	herbimycin a32 42	10.2	OSM, IL2RA, TKT, STAT5A, KITLG, JAK2
10	rapamycin32 42	10.2	JAK2, KITLG, KIT, PDGFRB, PDGFRA, STAT5A
11	cytarabine32 34 9 9	12.2	STAT5A, TKT, IFNA2, IFNA1, MPO, KITLG
12	ly29400232	9.1	STAT5A, STAT5B, STAT3, PIK3R1
13	fmlp32	8.9	MPO, ITGAX, RNASE3, TKT, STAT5A, FCER2
14	ifn-alpha32	8.9	OSM, STAT5A, STAT3, IL2RA, IFNA2, IFNA1
15	prednisolone32 9 9	10.7	IL2RA, KITLG, BGLAP, IFNA1, IFNA2, RNASE3
16	estrogen32	8.7	PIK3R1, PDGFRB, BGLAP, RNASE3, PDGFRA, TGFA
17	erlotinib32 34 9 9	11.7	KIT, PDGFRB, TKT, TGFA, STAT3
18	gp 13032	8.6	OSM, STAT5B, STAT5A, TGFA, IL2RA, PIK3R1
19	agar32	8.6	TGFA, PDGFRB, KITLG, PIK3R1, NRAS, TKT
20	cysteine32	8.6	TGFA, OSM, BGLAP, FCER2, IFNA2, PDGFRB
21	indomethacin32 9 9	10.5	IL2RA, MPO, JAK2, ITGAX, IFNA2, TGFA
22	calcitriol32 42 9 18 9	12.4	IL2RA, PDGFRB, PDGFRA, KITLG, TGFA, BGLAP
23	aspartate32	8.4	PIK3R1, SLC18A2, STAT5A, NTRK3, HDC, STAT3
24	heparin32 9 18 9	11.4	BGLAP, KITLG, ITGAX, TPSAB1, RNASE3, TGFA
25	wortmannin32 42	9.0	STAT5A, STAT3, PDGFRB, ENPP3, JAK2, STAT5B
26	pd 98,05932	7.9	OSM, TGFA, KIT, KITLG, JAK2, STAT5B
27	nitric oxide32 9 18 9	10.8	PIK3R1, OSM, STAT5A, KITLG, MPO, RNASE3
28	superoxide32 18	8.7	SLC18A2, STAT3, IFNA2, FCER2, PIK3R1, ITGAX
29	steroid32	7.6	RNASE3, PIK3R1, KIT, KITLG, JAK2, IL2RA
30	histamine32 18	8.6	RNASE3, TGFA, OSM, SLC18A2, HDC, KITLG
31	cyclosporin a32 42	8.5	STAT5A, STAT3, TGFA, RNASE3, IFNA1, IL2RA
32	5fluorouracil32	7.5	IL2RA, IFNA1, MPO, IFNA2, TKT, STAT3
33	matrigel32	7.4	PDGFRB, PIK3R1, JAK2, NTRK3, TGFA, STAT3
34	cisplatin32 34 9 9	10.3	MPO, STAT3, TKT, PDGFRB, IFNA2, IFNA1
35	phosphotyrosine32	7.2	PIK3R1, JAK2, PDGFRA, PDGFRB, TKT, STAT5A
36	genistein32 9 18 9	10.2	TKT, FCER2, PDGFRB, STAT5A, OSM, TGFA
37	alanine32	7.1	IFNA1, KITLG, BGLAP, IFNA2, PDGFRB, TGFA
38	dexamethasone32 42 34 9 9	11.1	IL2RA, IFNA1, RNASE3, STAT3, OSM, STAT5A
39	paraffin32	6.9	TKT, IL2RA, PDGFRA, PDGFRB, MPO, TGFA
40	vegf32	6.9	NTRK3, JAK2, MPO, BGLAP, KITLG, KIT
41	thymidine32 18	7.7	PDGFRA, STAT5A, JAK2, KIT, PIK3R1, OSM
42	imatinib32 34 9 9	9.7	STAT5B, STAT5A, STAT3, TKT, PIK3R1, KIT
43	h2o232	6.6	MPO, BGLAP, IL2RA, KITLG, HDC, PIK3R1
44	testosterone32 9 18 9	9.5	PIK3R1, NTRK3, KIT, IL2RA, PDGFRB, KITLG
45	cycloheximide32	6.2	HDC, STAT3, OSM, ITGAX, STAT5A, STAT5B
46	phosphatidylinositol32	6.2	PDGFRB, PIK3CD, OSM, STAT5B, KITLG, RAC2
47	calcium32 9 18 9	9.2	PDGFRB, TKT, PDGFRA, RNASE3, SLC18A2, FCER2
48	serine32	5.3	TGFA, MPO, KITLG, BGLAP, PIK3CD, PIK3R1
49	retinoic acid32 42 18	6.6	ITGAX, MPO, FCER2, IFNA1, IFNA2, RNASE3
50	tyrosine32	3.9	PIK3CD, PIK3R1, KIT, KITLG, RAC2, JAK2

Cellular components related to systemic mastocytosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	clathrin sculpted monoamine transport vesicle membrane	GO:070083	10.1	SLC18A1, SLC18A2
2	intrinsic to plasma membrane	GO:031226	9.7	PDGFRA, PDGFRB
3	extracellular space	GO:005615	8.3	OSM, TGFA, TPSAB1, IFNA2, MPO, BGLAP
4	plasma membrane	GO:005886	6.3	PIK3CD, SLC18A2, STAT3, TGFA, PDGFRB, PDGFRA

Biological processes related to systemic mastocytosis according to GeneDecks:

(show all 33)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of mast cell proliferation	GO:070668	10.5	KITLG, STAT5A
2	development of secondary female sexual characteristics	GO:046543	10.5	STAT5B, STAT5A
3	regulation of steroid metabolic process	GO:019218	10.5	STAT5B, STAT5A
4	mast cell differentiation	GO:060374	10.4	PIK3CD, KIT
5	development of secondary male sexual characteristics	GO:046544	10.4	STAT5B, STAT5A
6	negative regulation of mast cell apoptotic process	GO:033026	10.4	KITLG, STAT5A
7	allantoin metabolic process	GO:000255	10.3	STAT5A, STAT5B
8	natural killer cell differentiation	GO:001779	10.3	STAT5B, STAT5A, PIK3CD
9	isoleucine metabolic process	GO:006549	10.3	STAT5A, STAT5B
10	germ cell programmed cell death	GO:035234	10.3	KITLG, KIT
11	luteinization	GO:001553	10.3	PDGFRA, STAT5A, STAT5B
12	creatinine metabolic process	GO:046449	10.3	STAT5B, STAT5A
13	positive regulation of phospholipase C activity	GO:010863	10.2	PDGFRB, PDGFRA, KIT
14	tyrosine phosphorylation of Stat1 protein	GO:042508	10.2	OSM, JAK2
15	cell chemotaxis	GO:060326	10.2	KIT, PDGFRA, PDGFRB
16	metanephric glomerular capillary formation	GO:072277	10.2	PDGFRA, PDGFRB
17	positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	GO:038091	10.2	PDGFRB, PDGFRA
18	positive regulation of phosphatidylinositol 3-kinase activity	GO:043552	10.2	KIT, PDGFRA, PDGFRB
19	taurine metabolic process	GO:019530	10.1	STAT5B, STAT5A
20	mast cell chemotaxis	GO:002551	10.1	KIT, PIK3CD
21	platelet-derived growth factor receptor signaling pathway	GO:048008	10.0	PDGFRB, PDGFRA, JAK2
22	positive regulation of phosphatidylinositol 3-kinase cascade	GO:014068	9.9	PDGFRB, PDGFRA, JAK2, KIT
23	positive regulation of inflammatory response	GO:050729	9.8	JAK2, STAT5A, STAT5B
24	peptidyl-tyrosine phosphorylation	GO:018108	9.8	KIT, JAK2, PDGFRA, PDGFRB, STAT5A
25	regulation of multicellular organism growth	GO:040014	9.6	STAT3, STAT5A, STAT5B
26	tyrosine phosphorylation of Stat3 protein	GO:042503	9.6	JAK2, OSM
27	JAK-STAT cascade involved in growth hormone signaling pathway	GO:060397	9.4	STAT5B, STAT5A, STAT3, JAK2
28	JAK-STAT cascade	GO:007259	9.4	JAK2, STAT3, STAT5A, STAT5B
29	response to ethanol	GO:045471	9.2	STAT5B, STAT5A, STAT3, BGLAP
30	positive regulation of cell proliferation	GO:008284	9.2	OSM, PDGFRB, PDGFRA, NRAS, JAK2, RAC2
31	growth hormone receptor signaling pathway	GO:060396	9.2	STAT3, JAK2, PIK3R1
32	cytokine-mediated signaling pathway	GO:019221	9.1	STAT5B, STAT5A, STAT3, IFNA2, JAK2, KIT
33	cell proliferation	GO:008283	8.7	OSM, STAT3, TGFA, IL2RA, CD5, KITLG

Molecular functions related to systemic mastocytosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	monoamine transmembrane transporter activity	GO:008504	10.1	SLC18A1, SLC18A2
2	vascular endothelial growth factor binding	GO:038085	9.9	PDGFRA, PDGFRB
3	transmembrane receptor protein tyrosine kinase activity	GO:004714	9.2	KIT, NTRK3, PDGFRA