Systemic Mastocytosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SYS004 MIFTS: 65	Systemic Mastocytosis Categories: Rare diseases, Blood diseases
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Aliases & Classifications for Systemic Mastocytosis

MalaCards integrated aliases for Systemic Mastocytosis:

Name: Systemic Mastocytosis ³⁸ ¹² ⁷⁶ ⁵³ ²⁹ ¹⁵

Mast Cell Disease, Systemic ²⁹ ⁶

Mastocytosis, Systemic ⁴⁴ ⁷³

Corneal Dystrophy, Subepithelial Mucinous ⁷³

Smcd - Systemic Mast Cell Disease ¹²

Systemic Tissue Mast Cell Disease ¹²

Systemic Mast Cell Disease ⁵³

Mastocytosis Systemic ⁵⁵

Smcd ⁵³

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:349

MeSH ⁴⁴ D034721

NCIt ⁵⁰ C9235

SNOMED-CT ⁶⁸ 123310005 397016004 50150000

SNOMED-CT via HPO ⁶⁹ 64859006 112625008 271807003 more

UMLS ⁷³ C0221013 C2748503

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Summaries for Systemic Mastocytosis

NIH Rare Diseases : ⁵³ Systemic mastocytosis (SM) is a form of mastocytosis in which mast cells accumulate in internal tissues and organs such as the liver, spleen, bone marrow, and small intestines. It is typically diagnosed in adults. Signs and symptoms vary based on which parts of the body are affected. The disorder is usually caused by somatic changes (mutations) in the KIT gene. Most cases are sporadic and not inherited, but familial cases rarely have been reported. Systemic mastocytosis can be divided into 4 main categories which are distinguished by various features:Indolent systemic mastocytosis (ISM) Systemic mastocytosis with an associated hematologic nonmast cell lineage disorder (SM-AHNMD) Aggressive systemic mastocytosis (ASM) Mast cell leukemia (MCL) Once a person is diagnosed, the category of SM must be determined, as treatment and prognosis differ for each.

MalaCards based summary : Systemic Mastocytosis, also known as mast cell disease, systemic, is related to aggressive systemic mastocytosis and mast-cell leukemia. An important gene associated with Systemic Mastocytosis is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are PEDF Induced Signaling and Developmental Biology. The drugs Protein Kinase Inhibitors and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are osteoporosis and skin rash

Wikipedia : ⁷⁶ Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused... more...

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Related Diseases for Systemic Mastocytosis

Diseases related to Systemic Mastocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 180)

#	Related Disease	Score	Top Affiliating Genes
1	aggressive systemic mastocytosis	33.9	IFNA2 KIT KITLG
2	mast-cell leukemia	32.0	KIT KITLG
3	indolent systemic mastocytosis	31.6	CD2 HDC KIT KITLG TPSAB1
4	sm-ahnmd	31.1	CD2 FIP1L1 KIT PDGFRA
5	urticaria pigmentosa	31.0	KIT KITLG
6	corneal dystrophy, subepithelial mucinous	31.0	FIP1L1 PDGFRA PDGFRB
7	splenomegaly	30.5	IFNA2 JAK2
8	core binding factor acute myeloid leukemia	29.8	JAK2 KIT
9	essential thrombocythemia	29.8	IFNA2 JAK2 TET2
10	chronic myelomonocytic leukemia	29.8	JAK2 KIT PDGFRB TET2
11	myelofibrosis	29.8	IFNA2 JAK2 KIT TET2
12	leukemia, acute myeloid	29.4	CD2 JAK2 KIT KITLG TET2
13	mast cell neoplasm	29.3	HDC KIT KITLG
14	cutaneous mastocytosis	28.7	CD2 KIT KITLG TPSAB1
15	mast cell disease	28.7	CD2 IFNA2 KIT KITLG PDGFRA PDGFRB
16	myelodysplastic syndrome	28.6	JAK2 KIT KITLG PDGFRB TET2
17	hypereosinophilic syndrome, idiopathic	28.2	FIP1L1 KIT PDGFRA PDGFRB
18	chronic eosinophilic leukemia	27.9	FGFR1 FIP1L1 KIT PDGFRA PDGFRB
19	hypereosinophilic syndrome	27.9	FGFR1 FIP1L1 KIT PDGFRA PDGFRB
20	myeloproliferative neoplasm	26.9	FGFR1 FIP1L1 JAK2 KIT PDGFRA PDGFRB
21	systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	12.2
22	smouldering systemic mastocytosis	12.1
23	metaphyseal chondrodysplasia, schmid type	11.6
24	maculopapular cutaneous mastocytosis	11.3
25	diffuse cutaneous mastocytosis	10.9
26	mastocytic enterocolitis	10.9
27	monoclonal mast cell activation syndrome	10.9
28	reticular perineurioma	10.7	KIT PDGFRA
29	gastric leiomyosarcoma	10.6	KIT PDGFRA
30	conventional fibrosarcoma	10.6	KIT PDGFRA
31	endometrial small cell carcinoma	10.6	KIT PDGFRA
32	pulmonary vein stenosis	10.6	KIT PDGFRA
33	undifferentiated pleomorphic sarcoma	10.6	KIT PDGFRA
34	myelodysplastic myeloproliferative cancer	10.5	JAK2 TET2
35	lung adenoid cystic carcinoma	10.5	KIT PDGFRA
36	carney triad	10.5	KIT PDGFRA
37	refractory anemia	10.5	JAK2 TET2
38	mesenchymal cell neoplasm	10.5	KIT PDGFRA
39	leukemia	10.4
40	lymphoblastic leukemia, acute, with lymphomatous features	10.4	FGFR1 JAK2
41	extracutaneous mastocytoma	10.4	CD2 KIT
42	sarcomatoid renal cell carcinoma	10.4	IFNA2 KIT PDGFRA
43	neurofibromatosis, type i	10.4	KIT PDGFRA
44	ewing's family of tumors	10.4	KIT KITLG
45	malignant skin fibrous histiocytoma	10.4	IFNA2 KIT
46	dowling-degos disease 1	10.4	KIT KITLG
47	myeloid leukemia	10.3
48	piebald trait	10.3	KIT KITLG PDGFRA
49	neurofibroma	10.3	KIT KITLG PDGFRA
50	malignant dermis tumor	10.2	IFNA2 KIT

Graphical network of the top 20 diseases related to Systemic Mastocytosis:

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Symptoms & Phenotypes for Systemic Mastocytosis

Human phenotypes related to Systemic Mastocytosis:

³² (show all 31)

#	Description	HPO Frequency	HPO Source Accession
1	osteoporosis ³²	frequent (33%)	HP:0000939
2	skin rash ³²	frequent (33%)	HP:0000988
3	urticaria ³²	hallmark (90%)	HP:0001025
4	cirrhosis ³²	occasional (7.5%)	HP:0001394
5	portal hypertension ³²	occasional (7.5%)	HP:0001409
6	ascites ³²	occasional (7.5%)	HP:0001541
7	sudden cardiac death ³²	occasional (7.5%)	HP:0001645
8	splenomegaly ³²	occasional (7.5%)	HP:0001744
9	thrombocytopenia ³²	frequent (33%)	HP:0001873
10	abnormal eosinophil morphology ³²	hallmark (90%)	HP:0001879
11	leukopenia ³²	frequent (33%)	HP:0001882
12	anemia ³²	frequent (33%)	HP:0001903
13	nausea and vomiting ³²	hallmark (90%)	HP:0002017
14	malabsorption ³²	hallmark (90%)	HP:0002024
15	abdominal pain ³²	hallmark (90%)	HP:0002027
16	asthma ³²	occasional (7.5%)	HP:0002099
17	hepatomegaly ³²	occasional (7.5%)	HP:0002240
18	headache ³²	hallmark (90%)	HP:0002315
19	acute leukemia ³²	occasional (7.5%)	HP:0002488
20	bone pain ³²	occasional (7.5%)	HP:0002653
21	lymphadenopathy ³²	occasional (7.5%)	HP:0002716
22	recurrent fractures ³²	occasional (7.5%)	HP:0002757
23	osteolysis ³²	occasional (7.5%)	HP:0002797
24	arthralgia ³²	occasional (7.5%)	HP:0002829
25	myalgia ³²	occasional (7.5%)	HP:0003326
26	abnormality of the gastric mucosa ³²	occasional (7.5%)	HP:0004295
27	bone marrow hypocellularity ³²	occasional (7.5%)	HP:0005528
28	chronic leukemia ³²	occasional (7.5%)	HP:0005558
29	generalized osteosclerosis ³²	frequent (33%)	HP:0005789
30	impaired temperature sensation ³²	frequent (33%)	HP:0010829
31	mastocytosis ³²	hallmark (90%)	HP:0100495

GenomeRNAi Phenotypes related to Systemic Mastocytosis according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00173-A	9.53	PDGFRA
2	Decreased viability	GR00221-A-1	9.53	FGFR1 KIT PDGFRA PDGFRB
3	Decreased viability	GR00221-A-2	9.53	FGFR1
4	Decreased viability	GR00221-A-3	9.53	PDGFRA PDGFRB
5	Decreased viability	GR00221-A-4	9.53	PDGFRA PDGFRB
6	Decreased viability	GR00301-A	9.53	KIT
7	Decreased viability	GR00342-S-1	9.53	PDGFRB
8	Decreased viability	GR00402-S-2	9.53	FGFR1 KIT PDGFRA PDGFRB

MGI Mouse Phenotypes related to Systemic Mastocytosis:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.97	KITLG FGFR1 HDC PDGFRA JAK2 PDGFRB
2	endocrine/exocrine gland	MP:0005379	9.95	KITLG FGFR1 PDGFRA JAK2 PDGFRB KIT
3	immune system	MP:0005387	9.92	KITLG FGFR1 HDC PDGFRA JAK2 PDGFRB
4	embryo	MP:0005380	9.91	KITLG FGFR1 PDGFRA JAK2 PDGFRB KIT
5	craniofacial	MP:0005382	9.85	KIT KITLG FGFR1 PDGFRA PDGFRB
6	integument	MP:0010771	9.8	KITLG FGFR1 PDGFRA HDC JAK2 PDGFRB
7	limbs/digits/tail	MP:0005371	9.55	KITLG FGFR1 PDGFRA PDGFRB KIT
8	neoplasm	MP:0002006	9.35	KITLG PDGFRA JAK2 KIT TET2
9	normal	MP:0002873	9.17	CD2 FGFR1 PDGFRA JAK2 PDGFRB KIT

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Drugs & Therapeutics for Systemic Mastocytosis

Drugs for Systemic Mastocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Protein Kinase Inhibitors

Phase 4,Phase 2,Phase 1

Imatinib Mesylate

Phase 4,Phase 1,Phase 2

220127-57-1

123596

Denosumab

Approved

Phase 3

615258-40-7

Cladribine

Approved, Investigational

Phase 2, Phase 3

4291-63-8

20279

Bone Density Conservation Agents

Phase 3

Immunosuppressive Agents

Phase 2, Phase 3

Pharmaceutical Solutions

Phase 3

2-chloro-3'-deoxyadenosine

Phase 2, Phase 3

Dasatinib

Approved, Investigational

Phase 2

302962-49-8

3062316

Everolimus

Approved

Phase 2

159351-69-6

6442177

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

5284616 6436030 46835353

Denileukin diftitox

Approved, Investigational

Phase 2

173146-27-5

Cyclophosphamide

Approved, Investigational

Phase 2

50-18-0, 6055-19-2

2907

Fludarabine

Approved

Phase 2

21679-14-1, 75607-67-9

30751

Staurosporine

Experimental

Phase 2

62996-74-1

4'-N-benzoylstaurosporine

Phase 2

Specific substance maruyama

Phase 2

Anti-Bacterial Agents

Phase 2

Antibiotics, Antitubercular

Phase 2

Antifungal Agents

Phase 2

Anti-Infective Agents

Phase 2

Cromolyn Sodium

Phase 2

Analgesics

Phase 2

Analgesics, Non-Narcotic

Phase 2

Interleukin-2

Phase 2

Peripheral Nervous System Agents

Phase 2

Antibodies

Phase 2

Antibodies, Monoclonal

Phase 2

Immunoglobulins

Phase 2

Angiogenesis Inhibitors

Phase 2

Angiogenesis Modulating Agents

Phase 2

tyrosine

Nutraceutical

Phase 2

Tamoxifen

Approved

10540-29-1

2733526

Lenograstim

Approved, Investigational

135968-09-1

Antineoplastic Agents, Hormonal

Estrogen Antagonists

Estrogen Receptor Modulators

Estrogens

Hormone Antagonists

Hormones

Hormones, Hormone Substitutes, and Hormone Antagonists

Selective Estrogen Receptor Modulators

Adjuvants, Immunologic

JM 3100

Interventional clinical trials:

(show all 36)

#	Name	Status	NCT ID	Phase	Drugs
1	Imatinib in KIT-negative Systemic Mastocytosis	Completed	NCT01297777	Phase 4	Imatinib Mesylate
2	A Phase 3 Study to Compare Efficacy and Safety of Masitinib to Placebo in the Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap	Unknown status	NCT00814073	Phase 3	masitinib (AB1010);placebo
3	Study on Mastocytosis for Rupatadine Treatment	Completed	NCT01481909	Phase 2, Phase 3	Rupatadin
4	Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis	Recruiting	NCT03401060	Phase 3	Denosumab;Placebo
5	Cladribine Plus Pegylated Interpheron Alfa-2a in Systemic Mastocytosis	Recruiting	NCT01602939	Phase 2, Phase 3	Cladribine and pegylated interpheron alpha-2a
6	Midostaurin in Indolent Systemic Mastocytosis	Unknown status	NCT01920204	Phase 2	Midostaurin,
7	Evaluation of Response of Dasatinib to Treat Mastocytosis	Unknown status	NCT00979160	Phase 2	Dasatinib
8	Everolimus (RAD001) as Therapy for Patients With Systemic Mastocytosis	Completed	NCT00449748	Phase 2	RAD001 (Everolimus)
9	Treatment of Indolent Systemic Mastocytosis With PA101	Completed	NCT02478957	Phase 2	PA101;Placebo
10	Ontak (Denileukin Diftitox) in Patients With Systemic Mastocytosis (SM)	Completed	NCT00493129	Phase 2	Ontak (Denileukin Diftitox)
11	Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia	Completed	NCT01807598	Phase 2	brentuximab vedotin
12	Phase 2 Midostaurin in Aggressive Systemic Mastocytosis and Mast Cell Leukemia	Completed	NCT00233454	Phase 2	Midostaurin
13	17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Systemic Mastocytosis	Completed	NCT00132015	Phase 2	tanespimycin
14	Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis	Completed	NCT00769587	Phase 2	thalidomide
15	Stem Cell Transplantation to Treat Systemic Mastocytosis	Completed	NCT00006413	Phase 2
16	A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related Cancers	Completed	NCT00109707	Phase 1, Phase 2	Nilotinib
17	Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis	Completed	NCT00831974	Phase 2	masitinib (AB1010);masitinib (AB1010)
18	Efficacy and Safety of TF002 in Cutaneous Mastocytosis	Completed	NCT00457288	Phase 2	TF 002
19	Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes	Completed	NCT00171912	Phase 2	imatinib mesylate
20	Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis	Completed	NCT00555581	Phase 2	Imatinib Mesylate
21	SL-401 in Advanced, High Risk Myeloproliferative Neoplasms (Systemic Mastocytosis, Advanced Symptomatic Hypereosinoophic Disorder, Myelofibrosis, Chronic Myelomonocytic Leukemia)	Recruiting	NCT02268253	Phase 1, Phase 2	SL-401
22	Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia	Active, not recruiting	NCT00782067	Phase 2	Midostaurin (PKC412)
23	Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis	Not yet recruiting	NCT03580655	Phase 2	Avapritinib
24	CD16/IL-15/CD33 Tri-Specific Killer Engagers (TriKes) for CD33+ Hem Malignancies	Not yet recruiting	NCT03214666	Phase 1, Phase 2	161533 Trike Phase I;161533 Trike Phase II
25	Obatoclax for Systemic Mastocytosis	Terminated	NCT00918931	Phase 2	Obatoclax Mesylate
26	Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis	Terminated	NCT02415608	Phase 2	Ibrutinib
27	Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (advSM) and Relapsed or Refractory Myeloid Malignancies	Recruiting	NCT02561988	Phase 1	Avapritinib
28	A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies	Recruiting	NCT02571036	Phase 1	DCC-2618
29	A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002	Active, not recruiting	NCT02808793	Phase 1	AK002
30	Use of Tamoxifen in Systemic Mastocytosis	Unknown status	NCT01334996
31	Patient-Reported Outcome Questionnaire for Systemic Mastocytosis	Completed	NCT02380222
32	Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy Individuals	Completed	NCT00001760
33	Molecular Mechanisms and Diagnosis of Mastocytosis	Completed	NCT00336076
34	Diagnostic Value of Bone Marrow Tryptase in Systemic Mastocytosis	Recruiting	NCT02441166	Not Applicable
35	Study of Mast Cell Precursors	Recruiting	NCT00001756
36	Mast Cell Connect: A Registry for Patients With Mastocytosis	Recruiting	NCT02620254

Search NIH Clinical Center for Systemic Mastocytosis

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :

imatinib

imatinib mesylate

Cell-based therapeutics:

Data from LifeMap, the Embryonic Development and Stem Cells Database

Read about Systemic Mastocytosis cell therapies at LifeMap Discovery.

Stem-cell-based therapeutic approaches for Systemic Mastocytosis:

Peripheral blood-derived hematopoietic stem cells for treatment of systemic mastocytosis

Embryonic/Adult Cultured Cells Related to Systemic Mastocytosis:

Peripheral blood-derived hematopoietic stem cells (family) PMIDs: 10498605

Cochrane evidence based reviews: mastocytosis, systemic

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Genetic Tests for Systemic Mastocytosis

Genetic tests related to Systemic Mastocytosis:

#	Genetic test	Affiliating Genes
1	Mast Cell Disease, Systemic ²⁹
2	Systemic Mastocytosis ²⁹

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Anatomical Context for Systemic Mastocytosis

MalaCards organs/tissues related to Systemic Mastocytosis:

⁴¹

Bone, Bone Marrow, Myeloid, Liver, Spleen, Small Intestine, Skin

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Publications for Systemic Mastocytosis

Articles related to Systemic Mastocytosis:

(show top 50) (show all 696)

#	Title	Authors	Year
1	Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis. ( 29341334 )	Naumann N....Fabarius A.	2018
2	Midostaurin in indolent systemic mastocytosis patients: an open-label phase 2 trial. ( 29890238 )	van Anrooij B....Kluin-Nelemans J.C.	2018
3	Stone RM, Manley PW, Larson RA, Capdeville R. Midostaurin: its odyssey from discovery to approval for treating acute myeloid leukemia and advanced systemic mastocytosis. <i>Blood Adv</i>. 2017;2(4):444-453. ( 29618463 )		2018
4	Blatt K, Cerny-Reiterer S, Schwaab J, et al. Identification of the Ki-1 antigen (CD30) as a novel therapeutic target in systemic mastocytosis. <i>Blood.</i> 2015;126(26):2832-2841. ( 29567760 )		2018
5	Characterization of CD34<sup>+</sup>hematopoietic cells in systemic mastocytosis: Potential role in disease dissemination. ( 29331029 )	Mayado A....Orfao A.	2018
6	Anaphylactic reaction to an ultrasound contrast agent (Lumason) in a patient with systemic mastocytosis. ( 29517164 )	Olson M.C....Knudsen J.M.	2018
7	Systemic mastocytosis with concurrent multiple myeloma. ( 29599147 )	Prabahran A.A....Juneja S.K.	2018
8	How we diagnose and treat systemic mastocytosis in adults. ( 29048112 )	Scherber R.M....Borate U.	2018
9	Concurrent immunoglobulin E-mediated neuromuscular blocking agent allergy in systemic mastocytosis. ( 29481892 )	Dewachter P....Mouton-Faivre C.	2018
10	Midostaurin: its odyssey from discovery to approval for treating acute myeloid leukemia and advanced systemic mastocytosis. ( 29487059 )	Stone R.M....Capdeville R.	2018
11	Preclinical human models and emerging therapeutics for advanced systemic mastocytosis. ( 29976735 )	Arock M....Valent P.	2018
12	Systemic mastocytosis identified in two women developing fragility fractures during lactation. ( 29619541 )	Zhu J.J....Seeman E.	2018
13	Systemic mastocytosis associates with cardiovascular events despite lower plasma lipid levels. ( 29227868 )	Indhirajanti S....Roeters van Lennep J.E.	2018
14	Eosinophil phagocytosis in advanced systemic mastocytosis with eosinophilia. ( 29602231 )	Morales-Camacho R.M....Vargas M.T.	2018
15	Spotlight on midostaurin in the treatment of FLT3-mutated acute myeloid leukemia and systemic mastocytosis: design, development, and potential place in therapy. ( 29343975 )	Weisberg E....Griffin J.D.	2018
16	Systemic Mastocytosis: The Difficult Patient with a Rare Disease. Case Presentation and Brief Review. ( 29435387 )	Desmond D.H....Carmichael M.G.	2018
17	Indolent Systemic Mastocytosis Manifesting as Protracted Anaphylactic Shock. ( 29743774 )	Chatterjee M....Agarwal V.K.	2018
18	A Case of Mast Cell Leukemia: A Review of the Pathophysiology of Systemic Mastocytosis and Associated Psychiatric Symptoms. ( 29571984 )	Jamison N.K....Holmes E.G.	2018
19	A comparison of clinical and molecular characteristics of patients with systemic mastocytosis with chronic myelomonocytic leukemia to CMML alone. ( 29712989 )	Patnaik M.M....Pardanani A.	2018
20	Anesthetic management of patients with systemic mastocytosis. ( 29980002 )	Ishii K....Hara T.	2018
21	Prevalence and risk factors for fragility fracture in systemic mastocytosis. ( 28919366 )	DegboAc Y....Bulai-Livideanu C.	2017
22	Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report. ( 28181948 )	de la Fuente Tornero E....RodrA-guez Fraile J.R.	2017
23	Neonatal aggressive systemic mastocytosis. ( 29192973 )	Mellerio J.E.	2017
24	Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial. ( 28744009 )	Deangelo D.J....Gotlib J.	2017
25	Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome. ( 28439288 )	Conde-Fernandes I....Lima M.	2017
26	Development of tripe palms and soles in a patient with long pre-existing systemic mastocytosis and newly developed non-small cell lung cancer. ( 29055165 )	Bonnekoh H....Siebenhaar F.	2017
27	R634W KIT Mutation in an Adult With Systemic Mastocytosis. ( 28520972 )	Astle J.M....Siddon A.J.	2017
28	CCL2 is a KIT D816V-dependent modulator of the bone marrow microenvironment in systemic mastocytosis. ( 27856463 )	Greiner G....Hoermann G.	2017
29	Multiple large osteolytic lesions in a patient with systemic mastocytosis: a challenging diagnosis. ( 29225841 )	Bonifacio M....Rossini M.	2017
30	Management of poorly controlled indolent systemic mastocytosis using narrowband UVB phototherapy. ( 28632811 )	Husain Z....DeSimone J.A.	2017
31	Dystonia as an unusual presentation of systemic mastocytosis: possible link between histamine release and movement disorders. ( 28757371 )	Phillips A....Leung D.Y.M.	2017
32	Midostaurin treatment in FLT3-mutated acute myeloid leukemia and systemic mastocytosis. ( 28960095 )	Kayser S....Schlenk R.F.	2017
33	A new therapeutic advance for symptomatic systemic mastocytosis? ( 28069280 )	Arock M.	2017
34	Routine abdominal ultrasonography has limited value in the care for patients with indolent systemic mastocytosis. ( 28486845 )	de Mol C.L....van Daele P.L.A.	2017
35	Midostaurin (Rydapt) for AML and advanced systemic mastocytosis. ( 28787746 )		2017
36	In utero presentation of aggressive systemic mastocytosis in a neonate. ( 28369700 )	Huang A....Glick S.A.	2017
37	Case Report: Treatment of systemic mastocytosis with sunitinib. ( 29770197 )	Molderings G.J....Brettner S.	2017
38	Longitudinal Evaluation of Bone Mineral Density and Bone Metabolism Markers in Patients with Indolent Systemic Mastocytosis Without Osteoporosis. ( 27743017 )	Artuso A....Rossini M.	2017
39	Omalizumab prevents anaphylaxis and improves symptoms in systemic mastocytosis: Efficacy and safety observations. ( 28662309 )	Broesby-Olsen S....Bindslev-Jensen C.	2017
40	Systemic Mastocytosis in Association with Small Lymphocytic Lymphoma. ( 28970467 )	Iqbal M.F....Sana S.	2017
41	Acute Myeloid Leukemia With Inv(16)(p13q22) Associated With Hidden Systemic Mastocytosis: Case Report and Review of Literature. ( 28579854 )	Hilmi F.A.I....El-Omri H.	2017
42	Midostaurin: a novel therapeutic agent for patients with FLT3-mutated acute myeloid leukemia and systemic mastocytosis. ( 29051803 )	Gallogly M.M....Cooper B.W.	2017
43	Association of prognostic features and treatment on survival time of dogs with systemic mastocytosis: A retrospective analysis of 40 dogs. ( 29239110 )	Moirano S.J....Brodsky E.M.	2017
44	FGFR1 translocation with concurrent myeloproliferative neoplasm, systemic mastocytosis, and lymphoblastic lymphoma: a case report. ( 29107667 )	Chang K....Lin C.W.	2017
45	Response and progression on midostaurin in advanced systemic mastocytosis: KIT D816V and other molecular markers. ( 28424161 )	Jawhar M....Reiter A.	2017
46	Investigation of mast cell toll-like receptor 3 in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis and Systemic Mastocytosis participants using the novel application of autoMACS magnetic separation and flow cytometry. ( 29223146 )	Balinas C....Marshall-Gradisnik S.	2017
47	Pre-emptive Evaluation of Venom Allergy in a Patient with Systemic Mastocytosis. ( 28902950 )	GA1len T....Akin C.	2017
48	A case of lymphocytic variant hypereosinophilic syndrome with sub-diagnostic systemic mastocytosis. ( 28401108 )	Jain P....Estrov Z.	2017
49	Clonal reticulohistiocytosis of the skin and bone marrow associated with systemic mastocytosis and acute myeloid leukaemia. ( 28074480 )	Fusco N....Gianelli U.	2017
50	Crenolanib is a type I tyrosine kinase inhibitor that inhibits mutant<i>KIT</i>D816 isoforms prevalent in systemic mastocytosis and core binding factor leukemia. ( 29137311 )	Kampa-Schittenhelm K.M....Schittenhelm M.M.	2017

Sources

Genes for Systemic Mastocytosis

Genes related to Systemic Mastocytosis (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KIT	KIT Proto-Oncogene Receptor Tyrosine Kinase	Protein Coding	438.32	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11380399 18500355 10632491 (more) 10721793 11381374 16506600 18766971 19541349 18663058 19147089 19049823 18390729 17483298 17259998 9829852 9129234 7527672 20075725 19116630 16397263 16741248 12879016 8589724 18451237 12676775 17976525 17551405 16189265 19669220 17040960 15995326 19175693 8876560 10492068 16797704 18566536
2	TET2	Tet Methylcytosine Dioxygenase 2	Protein Coding	33.09	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
3	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	32.73	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	16610578 12676775 15995325 (more) 15036941
4	KITLG	KIT Ligand	Protein Coding	32.3	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8876560 12162685 12688351 (more) 7527672 20203509 16741248
5	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	30.36	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15995325
6	IFNA2	Interferon Alpha 2	Protein Coding	30.13	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8882964 8605279 10497631 (more) 8810675 14687620 9580806 1853687 14651557
7	JAK2	Janus Kinase 2	Protein Coding	29.67	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	19175693
8	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	29.64	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15995325
9	HDC	Histidine Decarboxylase	Protein Coding	27.49	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	16564918
10	TPSAB1	Tryptase Alpha/Beta 1	Protein Coding	25.78	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8675637 8613553
11	FIP1L1	Factor Interacting With PAPOLA And CPSF1	Protein Coding	23.98	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	CD2	CD2 Molecule	Protein Coding	23.72	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Systemic Mastocytosis

ClinVar genetic disease variations for Systemic Mastocytosis:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KIT	NM_000222.2(KIT): c.2459A> G (p.Asp820Gly)	single nucleotide variant	Pathogenic	rs121913682	GRCh37	Chromosome 4, 55599333: 55599333
2	KIT	NM_000222.2(KIT): c.2459A> G (p.Asp820Gly)	single nucleotide variant	Pathogenic	rs121913682	GRCh38	Chromosome 4, 54733167: 54733167
3	KIT	NM_000222.2(KIT): c.2459A> T (p.Asp820Val)	single nucleotide variant	Likely pathogenic	rs121913682	GRCh38	Chromosome 4, 54733167: 54733167
4	KIT	NM_000222.2(KIT): c.2459A> T (p.Asp820Val)	single nucleotide variant	Likely pathogenic	rs121913682	GRCh37	Chromosome 4, 55599333: 55599333

Sources

Expression for Systemic Mastocytosis

Search GEO for disease gene expression data for Systemic Mastocytosis.

Sources

Pathways for Systemic Mastocytosis

Pathways related to Systemic Mastocytosis according to GeneCards Suite gene sharing:

(show all 39)

#	Super pathways	Score	Top Affiliating Genes
1	PEDF Induced Signaling ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Cytokine-cytokine receptor interaction ³⁷ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Mediated Glucocorticoid Regulation ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.52	CD2 FGFR1 IFNA2 JAK2 KIT PDGFRA
2	Developmental Biology ⁶⁶ Show member pathways Axon guidance ⁶⁶	13.34	FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
3	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.18	CD2 FGFR1 JAK2 KIT KITLG PDGFRA
4	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.16	CD2 FGFR1 IFNA2 JAK2 KIT KITLG
5	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	13.12	FGFR1 KIT KITLG PDGFRA PDGFRB
6	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.09	FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
7	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.01	CD2 FGFR1 JAK2 KIT KITLG PDGFRA
8	PI3K/AKT activation ⁶⁶ Show member pathways Constitutive Signaling by Aberrant PI3K in Cancer ⁶⁶ GAB1 signalosome ⁶⁶ Negative regulation of the PI3K/AKT network ⁶⁶ PI3K/AKT Signaling in Cancer ⁶⁶ PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling ⁶⁶ PIP3 activates AKT signaling ⁶⁶ Role of LAT2/NTAL/LAB on calcium mobilization ⁶⁶	12.98	FGFR1 KIT KITLG PDGFRA PDGFRB
9	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.91	FGFR1 KIT KITLG PDGFRA PDGFRB
10	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	12.81	FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
11	Actin Nucleation by ARP-WASP Complex ⁶⁴ Show member pathways Actin Nucleation and Branching ⁶⁴ CDC42 Pathway ⁶⁴ RhoA Pathway ⁶⁴	12.8	FGFR1 KIT PDGFRA PDGFRB
12	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.78	JAK2 KIT KITLG PDGFRA PDGFRB
13	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.72	FGFR1 JAK2 PDGFRA PDGFRB
14	Endometrial cancer ³⁷ Show member pathways Acute myeloid leukemia ³⁷ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁶ Chronic myeloid leukemia ³⁷ Colorectal cancer ³⁷ Pancreatic cancer ³⁷ Prostate cancer ³⁷ Signal transduction PTEN pathway ²² Thyroid cancer ³⁷	12.72	FGFR1 KIT PDGFRA PDGFRB
15	Glioma ³⁷ Show member pathways EGFR tyrosine kinase inhibitor resistance ³⁷ Endocrine resistance ³⁷ Melanoma ³⁷ Non-small cell lung cancer ³⁷ Signaling Pathways in Glioblastoma ¹	12.63	FGFR1 JAK2 PDGFRA PDGFRB
16	MAPK signaling pathway ¹ ³⁷	12.61	FGFR1 KIT KITLG PDGFRA PDGFRB
17	Ras signaling pathway ³⁷ Show member pathways Rap1 signaling pathway ³⁷	12.56	FGFR1 KIT KITLG PDGFRA PDGFRB
18	Downstream signaling events of B Cell Receptor (BCR) ⁶⁶ Show member pathways Activation of RAS in B cells ⁶⁶ Signaling by the B Cell Receptor (BCR) ⁶⁶	12.55	FGFR1 KIT KITLG PDGFRA PDGFRB
19	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.53	FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
20	Regulation of IFNA signaling ⁶⁶ Show member pathways Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Jak-STAT signaling pathway ³⁷	12.49	IFNA2 JAK2 PDGFRA PDGFRB
21	NF-kappaB Signaling ⁴	12.43	CD2 JAK2 KIT KITLG
22	Phospholipase D signaling pathway ³⁷ Show member pathways Choline metabolism in cancer ³⁷	12.26	KIT KITLG PDGFRA PDGFRB
23	Pathways in cancer ³⁷	12.22	FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
24	Kit receptor signaling pathway ¹ Show member pathways IL-3 Signaling Pathway ¹ Signaling events mediated by Stem cell factor receptor (c-Kit) ¹	12.05	JAK2 KIT KITLG
25	AKT Signaling Pathway ⁶⁷	12.01	FGFR1 PDGFRA PDGFRB
26	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.95	CD2 FGFR1 JAK2 KITLG
27	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	11.94	FGFR1 PDGFRA PDGFRB
28	Hematopoietic cell lineage ³⁷	11.77	CD2 KIT KITLG
29	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.73	CD2 IFNA2 KIT KITLG
30	Angiogenesis (CST) ⁴	11.72	FGFR1 PDGFRA PDGFRB
31	VEGF Pathway (Tocris) ⁷² Show member pathways Sorafenib Pharmacodynamics ⁶¹	11.68	FGFR1 KIT PDGFRB
32	Gefitinib Pathway, Pharmacokinetics ⁶¹ Show member pathways Doxepin Pathway, Pharmacokinetics ⁶¹ Fluoxetine Pathway, Pharmacokinetics ⁶¹ Imatinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹ Nevirapine Pathway, Pharmacokinetics ⁶¹ Pazopanib Pathway, Pharmacokinetics ⁶¹ Warfarin Pathway, Pharmacokinetics ⁶¹	11.53	KIT PDGFRA PDGFRB
33	Alzheimers Disease Pathway ⁶⁴	11.37	FGFR1 PDGFRA PDGFRB
34	Central carbon metabolism in cancer ³⁷	11.37	FGFR1 KIT PDGFRA PDGFRB
35	Vemurafenib Pathway, Pharmacodynamics ⁶¹	11.28	FGFR1 PDGFRA PDGFRB
36	Tyrosine Kinases / Adaptors ⁴	11.27	FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
37	Cytoskeleton remodeling_Role of PDGFs in cell migration ²²	11.02	PDGFRA PDGFRB
38	Regulation of KIT signaling ⁶⁶	10.85	KIT KITLG
39	Osteoblast Signaling ¹	10.77	PDGFRA PDGFRB

Sources

GO Terms for Systemic Mastocytosis

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

#	Name	GO ID	Score	Top Affiliating Genes
1	intrinsic component of plasma membrane	GO:0031226	8.96	PDGFRA PDGFRB
2	receptor complex	GO:0043235	8.92	FGFR1 KIT PDGFRA PDGFRB

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

(show all 34)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell proliferation	GO:0008284	9.95	FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
2	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.9	FGFR1 KIT PDGFRA PDGFRB
3	cell migration	GO:0016477	9.89	FGFR1 JAK2 PDGFRA PDGFRB
4	positive regulation of cell migration	GO:0030335	9.88	JAK2 KIT PDGFRA PDGFRB
5	positive regulation of MAPK cascade	GO:0043410	9.85	FGFR1 KIT PDGFRA PDGFRB
6	transmembrane receptor protein tyrosine kinase signaling pathway	GO:0007169	9.83	JAK2 KIT PDGFRA PDGFRB
7	male gonad development	GO:0008584	9.82	KIT KITLG PDGFRB
8	cell chemotaxis	GO:0060326	9.8	KIT PDGFRA PDGFRB
9	negative regulation of signal transduction	GO:0009968	9.8	FGFR1 KIT PDGFRA PDGFRB
10	protein autophosphorylation	GO:0046777	9.8	FGFR1 JAK2 KIT PDGFRA PDGFRB
11	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.78	IFNA2 JAK2 KIT
12	peptidyl-tyrosine phosphorylation	GO:0018108	9.77	FGFR1 JAK2 KIT PDGFRA PDGFRB
13	positive regulation of kinase activity	GO:0033674	9.76	FGFR1 KIT PDGFRA PDGFRB
14	phosphatidylinositol-mediated signaling	GO:0048015	9.75	FGFR1 PDGFRA PDGFRB
15	positive regulation of MAP kinase activity	GO:0043406	9.73	FGFR1 KIT KITLG PDGFRB
16	MAPK cascade	GO:0000165	9.73	FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
17	positive regulation of protein kinase B signaling	GO:0051897	9.72	FGFR1 KIT KITLG PDGFRA PDGFRB
18	platelet-derived growth factor receptor signaling pathway	GO:0048008	9.71	JAK2 PDGFRA PDGFRB
19	positive regulation of phosphatidylinositol 3-kinase activity	GO:0043552	9.69	KIT PDGFRA PDGFRB
20	cardiac myofibril assembly	GO:0055003	9.66	PDGFRA PDGFRB
21	embryonic hemopoiesis	GO:0035162	9.65	KIT KITLG
22	positive regulation of phosphoprotein phosphatase activity	GO:0032516	9.65	JAK2 PDGFRB
23	negative regulation of platelet-derived growth factor receptor-beta signaling pathway	GO:2000587	9.63	PDGFRA PDGFRB
24	retina vasculature development in camera-type eye	GO:0061298	9.63	PDGFRA PDGFRB
25	ectopic germ cell programmed cell death	GO:0035234	9.62	KIT KITLG
26	positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	GO:0038091	9.57	PDGFRA PDGFRB
27	metanephric glomerular capillary formation	GO:0072277	9.56	PDGFRA PDGFRB
28	phosphatidylinositol phosphorylation	GO:0046854	9.55	FGFR1 KIT KITLG PDGFRA PDGFRB
29	positive regulation of phosphatidylinositol 3-kinase signaling	GO:0014068	9.35	FGFR1 JAK2 KIT PDGFRA PDGFRB
30	positive regulation of phospholipase C activity	GO:0010863	8.92	FGFR1 KIT PDGFRA PDGFRB
31	cell differentiation	GO:0030154	10.06	FGFR1 JAK2 KIT PDGFRA PDGFRB
32	phosphorylation	GO:0016310	10.04	FGFR1 JAK2 KIT PDGFRA PDGFRB
33	protein phosphorylation	GO:0006468	10.04	FGFR1 JAK2 KIT PDGFRA PDGFRB
34	negative regulation of apoptotic process	GO:0043066	10.01	FGFR1 KIT KITLG PDGFRA PDGFRB

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	kinase activity	GO:0016301	9.89	FGFR1 JAK2 KIT PDGFRA PDGFRB
2	protein kinase activity	GO:0004672	9.88	FGFR1 JAK2 KIT PDGFRA PDGFRB
3	transmembrane signaling receptor activity	GO:0004888	9.83	FGFR1 KIT PDGFRA PDGFRB
4	nucleotide binding	GO:0000166	9.8	FGFR1 JAK2 KIT PDGFRA PDGFRB
5	MAP kinase kinase kinase activity	GO:0004709	9.67	FGFR1 KIT PDGFRA PDGFRB
6	mitogen-activated protein kinase kinase binding	GO:0031434	9.62	FGFR1 KIT PDGFRA PDGFRB
7	growth factor binding	GO:0019838	9.61	KIT PDGFRA PDGFRB
8	phosphatidylinositol 3-kinase binding	GO:0043548	9.56	JAK2 PDGFRB
9	transmembrane receptor protein tyrosine kinase activity	GO:0004714	9.56	FGFR1 KIT PDGFRA PDGFRB
10	platelet-derived growth factor receptor binding	GO:0005161	9.55	PDGFRA PDGFRB
11	protein tyrosine kinase activity	GO:0004713	9.55	FGFR1 JAK2 KIT PDGFRA PDGFRB
12	platelet-derived growth factor binding	GO:0048407	9.51	PDGFRA PDGFRB
13	vascular endothelial growth factor binding	GO:0038085	9.46	PDGFRA PDGFRB
14	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	GO:0046934	9.35	FGFR1 KIT KITLG PDGFRA PDGFRB
15	Ras guanyl-nucleotide exchange factor activity	GO:0005088	9.1	FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
16	protein binding	GO:0005515	10.31	CD2 FGFR1 FIP1L1 HDC IFNA2 JAK2

Sources

Sources for Systemic Mastocytosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Systemic Mastocytosis

Aliases & Classifications for Systemic Mastocytosis

MalaCards integrated aliases for Systemic Mastocytosis:

Classifications:

External Ids:

Summaries for Systemic Mastocytosis

Related Diseases for Systemic Mastocytosis

Diseases related to Systemic Mastocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Systemic Mastocytosis:

Symptoms & Phenotypes for Systemic Mastocytosis

Human phenotypes related to Systemic Mastocytosis:

GenomeRNAi Phenotypes related to Systemic Mastocytosis according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Systemic Mastocytosis:

Drugs & Therapeutics for Systemic Mastocytosis

Drugs for Systemic Mastocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Inferred drug relations via UMLS 73 / NDF-RT 51 :

Cell-based therapeutics:

Cochrane evidence based reviews: mastocytosis, systemic

Genetic Tests for Systemic Mastocytosis

Genetic tests related to Systemic Mastocytosis:

Anatomical Context for Systemic Mastocytosis

MalaCards organs/tissues related to Systemic Mastocytosis:

Publications for Systemic Mastocytosis

Articles related to Systemic Mastocytosis:

Genes for Systemic Mastocytosis

Genes related to Systemic Mastocytosis (1 elite genes):

Variations for Systemic Mastocytosis

ClinVar genetic disease variations for Systemic Mastocytosis:

Expression for Systemic Mastocytosis

Pathways for Systemic Mastocytosis

Pathways related to Systemic Mastocytosis according to GeneCards Suite gene sharing:

GO Terms for Systemic Mastocytosis

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

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

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

Sources for Systemic Mastocytosis

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :