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

SMCD MCID: SYS004 MIFTS: 67	Systemic Mastocytosis (SMCD) Categories: Blood diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Systemic Mastocytosis

MalaCards integrated aliases for Systemic Mastocytosis:

Name: Systemic Mastocytosis ³⁸ ¹² ⁷⁶ ⁵³ ²⁵ ²⁹ ¹⁵

Mast Cell Disease, Systemic ²⁵ ²⁹ ⁶

Mastocytosis, Systemic ²⁵ ⁴⁴ ⁷³

Systemic Tissue Mast Cell Disease ¹² ²⁵

Systemic Mast Cell Disease ⁵³ ²⁵

Corneal Dystrophy, Subepithelial Mucinous ⁷³

Smcd - Systemic Mast Cell Disease ¹²

Systemic Mast-Cell Disease ²⁵

Systemic Mastocytoses ²⁵

Mastocytosis Systemic ⁵⁵

Smcd ⁵³

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:349

ICD10 ³³ D47.02

MeSH ⁴⁴ D034721

NCIt ⁵⁰ C9235

SNOMED-CT ⁶⁸ 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 indolent systemic mastocytosis. 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 sudden cardiac death and nausea and vomiting

Genetics Home Reference : ²⁵ Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.

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 in the Mastocytosis family:

Systemic Mastocytosis

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

(show top 50) (show all 177)

#	Related Disease	Score	Top Affiliating Genes
1	aggressive systemic mastocytosis	33.8	IFNA2 KIT KITLG
2	indolent systemic mastocytosis	33.1	CD2 HDC KIT KITLG TPSAB1
3	sm-ahnmd	31.9	ASXL1 CD2 FIP1L1 KIT PDGFRA TET2
4	corneal dystrophy, subepithelial mucinous	31.7	FIP1L1 PDGFRA PDGFRB
5	mastocytosis	30.9	CD2 FIP1L1 HDC IFNA2 KIT KITLG
6	mast-cell leukemia	30.6	KIT KITLG
7	leukemia, acute myeloid	30.2	ASXL1 CD2 JAK2 KIT KITLG TET2
8	splenomegaly	30.1	IFNA2 JAK2
9	chronic myelomonocytic leukemia	30.1	ASXL1 JAK2 KIT PDGFRB TET2
10	mastocytosis, cutaneous	30.1	CD2 FIP1L1 KIT KITLG
11	myelofibrosis	30.0	ASXL1 IFNA2 JAK2 KIT TET2
12	polycythemia	29.8	JAK2 KITLG TET2
13	core binding factor acute myeloid leukemia	29.7	JAK2 KIT
14	pdgfra-associated chronic eosinophilic leukemia	29.7	FIP1L1 PDGFRA
15	essential thrombocythemia	29.6	ASXL1 IFNA2 JAK2 TET2
16	gastrointestinal stromal tumor	29.5	KIT KITLG PDGFRA PDGFRB
17	chronic eosinophilic leukemia	29.5	FGFR1 FIP1L1 KIT PDGFRA PDGFRB
18	hypereosinophilic syndrome	29.4	FGFR1 FIP1L1 KIT PDGFRA PDGFRB
19	hypereosinophilic syndrome, idiopathic	29.3	FIP1L1 KIT PDGFRA PDGFRB
20	myelodysplastic syndrome	29.2	ASXL1 JAK2 KIT KITLG PDGFRB TET2
21	polycythemia vera	29.2	JAK2 KIT KITLG PDGFRA PDGFRB TET2
22	myeloproliferative neoplasm	29.0	FGFR1 FIP1L1 JAK2 KIT PDGFRA PDGFRB
23	hematologic cancer	28.8	CD2 FGFR1 JAK2 KIT KITLG PDGFRB
24	systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	12.4
25	smouldering systemic mastocytosis	12.3
26	metaphyseal chondrodysplasia, schmid type	11.7
27	mastocytic enterocolitis	11.1
28	monoclonal mast cell activation syndrome	11.1
29	leukemia	10.6
30	myeloid leukemia	10.4
31	osteoporosis	10.4
32	urticaria	10.3
33	lymphoma	10.3
34	portal hypertension	10.3
35	reticular perineurioma	10.2	KIT PDGFRA
36	pdgfrb-associated chronic eosinophilic leukemia	10.2
37	subacute myeloid leukemia	10.2	JAK2 TET2
38	gastric leiomyosarcoma	10.2	KIT PDGFRA
39	sarcomatoid renal cell carcinoma	10.2	IFNA2 KIT
40	conventional fibrosarcoma	10.2	KIT PDGFRA
41	endometrial small cell carcinoma	10.2	KIT PDGFRA
42	lung adenoid cystic carcinoma	10.2	KIT PDGFRA
43	pulmonary vein stenosis	10.2	KIT PDGFRA
44	carney triad	10.2	KIT PDGFRA
45	mesenchymal cell neoplasm	10.2	KIT PDGFRA
46	undifferentiated pleomorphic sarcoma	10.2	KIT PDGFRA
47	diarrhea	10.1
48	neurofibromatosis, type i	10.1	KIT PDGFRA
49	ewing's family of tumors	10.1	KIT KITLG
50	extracutaneous mastocytoma	10.1	CD2 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	sudden cardiac death ³²	occasional (7.5%)	HP:0001645
2	nausea and vomiting ³²	hallmark (90%)	HP:0002017
3	splenomegaly ³²	occasional (7.5%)	HP:0001744
4	hepatomegaly ³²	occasional (7.5%)	HP:0002240
5	malabsorption ³²	hallmark (90%)	HP:0002024
6	portal hypertension ³²	occasional (7.5%)	HP:0001409
7	osteoporosis ³²	frequent (33%)	HP:0000939
8	arthralgia ³²	occasional (7.5%)	HP:0002829
9	ascites ³²	occasional (7.5%)	HP:0001541
10	anemia ³²	frequent (33%)	HP:0001903
11	bone marrow hypocellularity ³²	occasional (7.5%)	HP:0005528
12	abdominal pain ³²	hallmark (90%)	HP:0002027
13	generalized osteosclerosis ³²	frequent (33%)	HP:0005789
14	cirrhosis ³²	occasional (7.5%)	HP:0001394
15	thrombocytopenia ³²	frequent (33%)	HP:0001873
16	myalgia ³²	occasional (7.5%)	HP:0003326
17	asthma ³²	occasional (7.5%)	HP:0002099
18	recurrent fractures ³²	occasional (7.5%)	HP:0002757
19	skin rash ³²	frequent (33%)	HP:0000988
20	bone pain ³²	occasional (7.5%)	HP:0002653
21	urticaria ³²	hallmark (90%)	HP:0001025
22	acute leukemia ³²	occasional (7.5%)	HP:0002488
23	chronic leukemia ³²	occasional (7.5%)	HP:0005558
24	abnormality of the gastric mucosa ³²	occasional (7.5%)	HP:0004295
25	osteolysis ³²	occasional (7.5%)	HP:0002797
26	headache ³²	hallmark (90%)	HP:0002315
27	lymphadenopathy ³²	occasional (7.5%)	HP:0002716
28	mastocytosis ³²	hallmark (90%)	HP:0100495
29	leukopenia ³²	frequent (33%)	HP:0001882
30	impaired temperature sensation ³²	frequent (33%)	HP:0010829
31	abnormal eosinophil morphology ³²	hallmark (90%)	HP:0001879

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 (show all 12)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.11	ASXL1 FGFR1 JAK2 KIT KITLG PDGFRA
2	growth/size/body region	MP:0005378	10.09	ASXL1 FGFR1 HDC JAK2 KIT KITLG
3	endocrine/exocrine gland	MP:0005379	10.06	ASXL1 FGFR1 JAK2 KIT KITLG PDGFRA
4	hematopoietic system	MP:0005397	10.06	ASXL1 FGFR1 HDC JAK2 KIT KITLG
5	immune system	MP:0005387	10.02	ASXL1 FGFR1 HDC JAK2 KIT KITLG
6	craniofacial	MP:0005382	9.97	ASXL1 FGFR1 KIT KITLG PDGFRA PDGFRB
7	digestive/alimentary	MP:0005381	9.95	ASXL1 FGFR1 KIT KITLG PDGFRA PDGFRB
8	integument	MP:0010771	9.87	FGFR1 HDC JAK2 KIT KITLG PDGFRA
9	limbs/digits/tail	MP:0005371	9.65	FGFR1 KIT KITLG PDGFRA PDGFRB
10	neoplasm	MP:0002006	9.63	ASXL1 JAK2 KIT KITLG PDGFRA TET2
11	normal	MP:0002873	9.5	CD2 FGFR1 JAK2 KIT PDGFRA PDGFRB
12	skeleton	MP:0005390	9.17	ASXL1 FGFR1 JAK2 KIT KITLG PDGFRA

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Drugs & Therapeutics for Systemic Mastocytosis

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

(show all 44)

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

Cladribine

Approved, Investigational

Phase 2, Phase 3

4291-63-8

20279

Denosumab

Approved

Phase 3

615258-40-7

Immunologic Factors

Phase 2, Phase 3

2-chloro-3'-deoxyadenosine

Phase 2, Phase 3

Immunosuppressive Agents

Phase 2, Phase 3

Bone Density Conservation Agents

Phase 3

Pharmaceutical Solutions

Phase 3

Midostaurin

Approved, Investigational

Phase 2

120685-11-2

104937 9829523

Dasatinib

Approved, Investigational

Phase 2

302962-49-8

3062316

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

46835353 6436030 5284616

Everolimus

Approved

Phase 2

159351-69-6

6442177

Denileukin diftitox

Approved, Investigational

Phase 2

173146-27-5

Cyclophosphamide

Approved, Investigational

Phase 2

6055-19-2, 50-18-0

2907

Fludarabine

Approved

Phase 2

75607-67-9, 21679-14-1

30751

Staurosporine

Experimental

Phase 2

62996-74-1

Specific substance maruyama

Phase 2

Anti-Infective Agents

Phase 2

Anti-Bacterial Agents

Phase 2

Antifungal Agents

Phase 2

Antibiotics, Antitubercular

Phase 2

Cromolyn Sodium

Phase 2

Peripheral Nervous System Agents

Phase 2

Analgesics

Phase 2

Interleukin-2

Phase 2

Analgesics, Non-Narcotic

Phase 2

Antibodies

Phase 2

Immunoglobulins

Phase 2

Antibodies, Monoclonal

Phase 2

tyrosine

Phase 2

Angiogenesis Inhibitors

Phase 2

Angiogenesis Modulating Agents

Phase 2

Tamoxifen

Approved

10540-29-1

2733526

Hormones, Hormone Substitutes, and Hormone Antagonists

Estrogen Receptor Modulators

Estrogens

Selective Estrogen Receptor Modulators

Antineoplastic Agents, Hormonal

Hormone Antagonists

Estrogen Receptor Antagonists

Estrogen Antagonists

Hormones

Interventional clinical trials:

(show all 40)

#	Name	Status	NCT ID	Phase	Drugs
1	Imatinib in KIT-negative Systemic Mastocytosis	Completed	NCT01297777	Phase 4	Imatinib Mesylate
2	Cladribine Plus Pegylated Interpheron Alfa-2a in Systemic Mastocytosis	Unknown status	NCT01602939	Phase 2, Phase 3	Cladribine and pegylated interpheron alpha-2a
3	Masitinib in Severe Indolent or Smoldering Systemic Mastocytosis	Completed	NCT00814073	Phase 3	Masitinib;Placebo
4	Study on Mastocytosis for Rupatadine Treatment	Completed	NCT01481909	Phase 2, Phase 3	Rupatadin
5	Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis	Recruiting	NCT03401060	Phase 3	Denosumab;Placebo
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	Efficacy and Safety of Midostaurin in Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia	Completed	NCT00782067	Phase 2	Midostaurin (PKC412)
14	17-N-Allylamino-17-Demethoxygeldanamycin in Treating Patients With Systemic Mastocytosis	Completed	NCT00132015	Phase 2	tanespimycin
15	Thalidomide in Treating Patients With Relapsed or Progressive Systemic Mastocytosis	Completed	NCT00769587	Phase 2	thalidomide
16	Stem Cell Transplantation to Treat Systemic Mastocytosis	Completed	NCT00006413	Phase 2
17	A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Blood Related Cancers	Completed	NCT00109707	Phase 1, Phase 2	Nilotinib
18	Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis	Completed	NCT00831974	Phase 2	masitinib (AB1010);masitinib (AB1010)
19	Efficacy and Safety of TF002 in Cutaneous Mastocytosis	Completed	NCT00457288	Phase 2	TF 002
20	Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes	Completed	NCT00171912	Phase 2	imatinib mesylate
21	Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis	Completed	NCT00555581	Phase 2	Imatinib Mesylate
22	Safety and Efficacy of Subcutaneous Sarilumab in Improving the Quality of Life in People With Indolent Systemic Mastocytosis	Recruiting	NCT03770273	Phase 2
23	(PIONEER) Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, Versus Placebo in Patients With Indolent and Smoldering Systemic Mastocytosis	Recruiting	NCT03731260	Phase 2	Avapritinib;Placebo
24	(PATHFINDER) Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis	Recruiting	NCT03580655	Phase 2	Avapritinib
25	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
26	CD16/IL-15/CD33 Tri-Specific Killer Engagers (TriKEs) for High Risk Heme Malignancies	Not yet recruiting	NCT03214666	Phase 1, Phase 2	161533 Trike Phase I;161533 Trike Phase II
27	Flotetuzumab in Treating Patients With Recurrent or Refractory CD123 Positive Blood Cancer	Not yet recruiting	NCT03739606	Phase 2
28	Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis	Terminated	NCT02415608	Phase 2	Ibrutinib
29	Obatoclax for Systemic Mastocytosis	Terminated	NCT00918931	Phase 2	Obatoclax Mesylate
30	Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies	Recruiting	NCT02561988	Phase 1	Avapritinib
31	A Safety, Tolerability and PK Study of DCC-2618 in Patients With Advanced Malignancies	Recruiting	NCT02571036	Phase 1	DCC-2618
32	A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002	Active, not recruiting	NCT02808793	Phase 1	AK002
33	Patient-Reported Outcome Questionnaire for Systemic Mastocytosis	Completed	NCT02380222
34	Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy Individuals	Completed	NCT00001760
35	Molecular Mechanisms and Diagnosis of Mastocytosis	Completed	NCT00336076
36	Use of Tamoxifen in Systemic Mastocytosis	Recruiting	NCT01334996
37	Diagnostic Value of Bone Marrow Tryptase in Systemic Mastocytosis	Recruiting	NCT02441166	Not Applicable
38	Study of Mast Cell Precursors	Recruiting	NCT00001756
39	Mast Cell Connect: A Registry for Patients With Mastocytosis	Recruiting	NCT02620254
40	Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language	Not yet recruiting	NCT03632811

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

Sources

Publications for Systemic Mastocytosis

Articles related to Systemic Mastocytosis:

(show top 50) (show all 812)

#	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 )		2018
12	Systemic mastocytosis identified in two women developing fragility fractures during lactation. ( 29619541 )		2018
13	Systemic mastocytosis associates with cardiovascular events despite lower plasma lipid levels. ( 29227868 )		2018
14	Eosinophil phagocytosis in advanced systemic mastocytosis with eosinophilia. ( 29602231 )		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 )		2018
16	Systemic Mastocytosis: The Difficult Patient with a Rare Disease. Case Presentation and Brief Review. ( 29435387 )		2018
17	Indolent Systemic Mastocytosis Manifesting as Protracted Anaphylactic Shock. ( 29743774 )		2018
18	A Case of Mast Cell Leukemia: A Review of the Pathophysiology of Systemic Mastocytosis and Associated Psychiatric Symptoms. ( 29571984 )		2018
19	A comparison of clinical and molecular characteristics of patients with systemic mastocytosis with chronic myelomonocytic leukemia to CMML alone. ( 29712989 )		2018
20	Acquired von Willebrand syndrome during systemic mastocytosis: an analysis of 21 cases. ( 30057374 )	Mital A...Hellmann A	2018
21	BLU-285-the breakthrough in treatment of patients with aggressive systemic mastocytosis and gastrointestinal stromal tumor. ( 30023395 )	Schneider-Stock R	2018
22	Aggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia. ( 30069418 )	Karam D...Agrawal B	2018
23	Radiotherapy for breast cancer associated with a cutaneous presentation of systemic mastocytosis-a case report and literature review. ( 30487967 )	Easwaralingam N...Edirimanne S	2018
24	Anesthetic management of patients with systemic mastocytosis. ( 29980002 )	Ishii K...Hara T	2018
25	Safety of ultra-rush protocols for hymenoptera venom immunotherapy in systemic mastocytosis. ( 29984458 )	Gruzelle V...Guilleminault L	2018
26	Are Enterocolic Mucosal Mast Cell Aggregates Clinically Relevant in Patients Without Suspected or Established Systemic Mastocytosis? ( 30001235 )	Johncilla M...Yantiss RK	2018
27	CD4 and CD30 Coexpression in a Cutaneous Manifestation of Systemic Mastocytosis-A Pitfall. ( 30035753 )	Kulberg A...Mitteldorf C	2018
28	Long-term Remission of Acute Myeloid Leukemia Developed From Systemic Mastocytosis by Conventional Chemotherapy. ( 30044348 )	Yamada A...Moritake H	2018
29	Midostaurin: A Multiple Tyrosine Kinases Inhibitor in Acute Myeloid Leukemia and Systemic Mastocytosis. ( 30069632 )	Schlenk RF...Kayser S	2018
30	FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis. ( 30115735 )	Kasamon YL...Pazdur R	2018
31	Twelve-year follow-up of omalizumab therapy for anaphylaxis in 2 patients with systemic mastocytosis. ( 30149096 )	Constantine GM...Carter MC	2018
32	Cytogenetic abnormalities in systemic mastocytosis: WHO subcategory-specific incidence and prognostic impact among 348 informative cases. ( 30152525 )	Shah S...Tefferi A	2018
33	Clinical Validation of KIT Inhibition in Advanced Systemic Mastocytosis. ( 30155614 )	Baird JH...Gotlib J	2018
34	Practice-relevant demarcation of systemic mastocytosis associated with another hematologic neoplasm. ( 30156701 )	Tefferi A...Pardanani A	2018
35	Mitral Valve Replacement in a Patient With Systemic Mastocytosis. ( 30279067 )	Giraldo-Grueso M...Uma?a JP	2018
36	Massive splenomegaly: flow cytometry as a diagnostic tool for systemic mastocytosis. ( 30310794 )	Rastogi L...Kotwal J	2018
37	Impact of somatic and germline mutations on the outcome of systemic mastocytosis. ( 30373888 )	Mu?oz-Gonz?lez JI...Garc?a-Montero AC	2018
38	The new tool "KIT" in advanced systemic mastocytosis. ( 30504301 )	Shomali W...Gotlib J	2018
39	Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management. ( 30536695 )	Pardanani A	2018
40	Systemic mastocytosis with an associated hematological neoplasm masquerading as overt primary myelofibrosis. ( 30545894 )	Xu RZ...Xu Z	2018
41	Systemic Mastocytosis, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology. ( 30545997 )	Gotlib J...Sundar H	2018
42	SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis. ( 28663576 )	Martinelli G...Soverini S	2018
43	Prevalence and risk factors for fragility fracture in systemic mastocytosis. ( 28919366 )	DegboAc Y....Bulai-Livideanu C.	2017
44	Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report. ( 28181948 )	de la Fuente Tornero E....RodrA-guez Fraile J.R.	2017
45	Neonatal aggressive systemic mastocytosis. ( 29192973 )	Mellerio J.E.	2017
46	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
47	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
48	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
49	R634W KIT Mutation in an Adult With Systemic Mastocytosis. ( 28520972 )	Astle J.M....Siddon A.J.	2017
50	CCL2 is a KIT D816V-dependent modulator of the bone marrow microenvironment in systemic mastocytosis. ( 27856463 )	Greiner G....Hoermann G.	2017

Sources

Genes for Systemic Mastocytosis

Genes related to Systemic Mastocytosis (0 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KIT	KIT Proto-Oncogene Receptor Tyrosine Kinase	Protein Coding	47.23	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (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	32.93	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
3	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	32.57	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	16610578 12676775 15995325 (more) 15036941
4	KITLG	KIT Ligand	Protein Coding	32.11	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	30.21	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15995325
6	IFNA2	Interferon Alpha 2	Protein Coding	29.94	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	29.58	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	19175693
8	TPSAB1	Tryptase Alpha/Beta 1	Protein Coding	29.53	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8675637 8613553
9	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	29.43	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15995325
10	HDC	Histidine Decarboxylase	Protein Coding	27.26	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	16564918
11	FIP1L1	Factor Interacting With PAPOLA And CPSF1	Protein Coding	23.87	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	CD2	CD2 Molecule	Protein Coding	23.57	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	ASXL1	ASXL Transcriptional Regulator 1	Protein Coding	23.26	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> T (p.Asp820Val)	single nucleotide variant	Likely pathogenic	rs121913682	GRCh38	Chromosome 4, 54733167: 54733167
2	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 40)

#	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	13.54	CD2 FGFR1 IFNA2 JAK2 KIT PDGFRA
2	Developmental Biology ⁶⁶ Show member pathways Axon guidance ⁶⁶	13.36	FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
3	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	13.27	CD2 FGFR1 IFNA2 JAK2 KIT KITLG
4	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.25	CD2 FGFR1 JAK2 KIT KITLG PDGFRA
5	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.15	FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
6	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.07	CD2 FGFR1 JAK2 KIT KITLG PDGFRA
7	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	12.99	FGFR1 KIT KITLG PDGFRA PDGFRB
8	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.94	FGFR1 KIT KITLG PDGFRA PDGFRB
9	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	12.84	FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
10	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	12.8	JAK2 KIT KITLG PDGFRA PDGFRB
11	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	12.73	FGFR1 KIT PDGFRA PDGFRB
12	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	12.64	FGFR1 JAK2 PDGFRA PDGFRB
13	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.64	FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
14	MAPK signaling pathway ³⁷ ¹	12.63	FGFR1 KIT KITLG PDGFRA PDGFRB
15	Ras signaling pathway ³⁷ Show member pathways Rap1 signaling pathway ³⁷	12.59	FGFR1 KIT KITLG PDGFRA PDGFRB
16	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	12.57	FGFR1 KIT KITLG PDGFRA PDGFRB
17	NF-kappaB Signaling ⁴	12.45	CD2 JAK2 KIT KITLG
18	JAK-STAT signaling pathway (KEGG) ³⁷ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵	12.28	IFNA2 JAK2 PDGFRA PDGFRB
19	Phospholipase D signaling pathway ³⁷ Show member pathways Choline metabolism in cancer ³⁷	12.27	KIT KITLG PDGFRA PDGFRB
20	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ¹	12.27	FGFR1 KIT KITLG PDGFRA PDGFRB
21	Pathways in cancer ³⁷	12.22	FGFR1 IFNA2 JAK2 KIT KITLG PDGFRA
22	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
23	AKT Signaling Pathway ⁶⁷	12.01	FGFR1 PDGFRA PDGFRB
24	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.96	CD2 FGFR1 JAK2 KITLG
25	Immune response IFN alpha/beta signaling pathway ²² Show member pathways Cytokine Network ⁶⁴ Interferon alpha/beta signaling ⁶⁶ Regulation of IFNA signaling ⁶⁶	11.84	FGFR1 IFNA2 KIT KITLG PDGFRA PDGFRB
26	Hematopoietic cell lineage ³⁷	11.79	CD2 KIT KITLG
27	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.77	CD2 IFNA2 KIT KITLG
28	Angiogenesis (CST) ⁴	11.74	FGFR1 PDGFRA PDGFRB
29	VEGF Pathway (Tocris) ⁶¹ Show member pathways VEGF Pathway ⁷²	11.7	FGFR1 KIT PDGFRB
30	Imatinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹ Show member pathways Clozapine Pathway, Pharmacokinetics ⁶¹ Doxepin Pathway, Pharmacokinetics ⁶¹ Fluoxetine Pathway, Pharmacokinetics ⁶¹ Gefitinib Pathway, Pharmacokinetics ⁶¹ Nevirapine Pathway, Pharmacokinetics ⁶¹ Pazopanib Pathway, Pharmacokinetics ⁶¹ Warfarin Pathway, Pharmacokinetics ⁶¹	11.66	KIT PDGFRA PDGFRB
31	G-protein signaling_RhoA regulation pathway ²²	11.61	FGFR1 KITLG PDGFRA PDGFRB
32	Central carbon metabolism in cancer ³⁷	11.44	FGFR1 KIT PDGFRA PDGFRB
33	Alzheimers Disease Pathway ⁶⁴	11.35	FGFR1 PDGFRA PDGFRB
34	Vemurafenib Pathway, Pharmacodynamics ⁶¹	11.31	FGFR1 PDGFRA PDGFRB
35	G-protein signaling_Cross-talk between Ras-family GTPases ²²	11.27	FGFR1 JAK2 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	11.03	PDGFRA PDGFRB
38	Regulation of KIT signaling ⁶⁶	10.86	KIT KITLG
39	Osteoblast Signaling ¹	10.79	PDGFRA PDGFRB
40	G-protein signaling_Rap2B regulation pathway ²²	10.75	CD2 FGFR1 KIT KITLG 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	receptor complex	GO:0043235	8.92	FGFR1 KIT PDGFRA PDGFRB

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

(show all 31)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell proliferation	GO:0008284	9.93	FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
2	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.88	FGFR1 KIT PDGFRA PDGFRB
3	positive regulation of cell migration	GO:0030335	9.87	JAK2 KIT PDGFRA PDGFRB
4	positive regulation of MAPK cascade	GO:0043410	9.83	FGFR1 KIT PDGFRA PDGFRB
5	male gonad development	GO:0008584	9.81	KIT KITLG PDGFRB
6	transmembrane receptor protein tyrosine kinase signaling pathway	GO:0007169	9.8	KIT PDGFRA PDGFRB
7	peptidyl-tyrosine phosphorylation	GO:0018108	9.8	FGFR1 JAK2 KIT PDGFRA PDGFRB
8	cell chemotaxis	GO:0060326	9.79	KIT PDGFRA PDGFRB
9	negative regulation of signal transduction	GO:0009968	9.78	FGFR1 KIT PDGFRA PDGFRB
10	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.77	IFNA2 JAK2 KIT
11	protein autophosphorylation	GO:0046777	9.77	FGFR1 JAK2 KIT PDGFRA PDGFRB
12	phosphatidylinositol-mediated signaling	GO:0048015	9.73	FGFR1 PDGFRA PDGFRB
13	positive regulation of MAP kinase activity	GO:0043406	9.73	FGFR1 KIT KITLG PDGFRB
14	positive regulation of protein kinase B signaling	GO:0051897	9.72	FGFR1 KIT KITLG PDGFRA PDGFRB
15	platelet-derived growth factor receptor signaling pathway	GO:0048008	9.69	JAK2 PDGFRA PDGFRB
16	positive regulation of phosphatidylinositol 3-kinase activity	GO:0043552	9.67	KIT PDGFRA PDGFRB
17	cardiac myofibril assembly	GO:0055003	9.65	PDGFRA PDGFRB
18	phosphatidylinositol phosphorylation	GO:0046854	9.65	FGFR1 KIT KITLG PDGFRA PDGFRB
19	embryonic hemopoiesis	GO:0035162	9.64	KIT KITLG
20	positive regulation of phosphoprotein phosphatase activity	GO:0032516	9.64	JAK2 PDGFRB
21	MAPK cascade	GO:0000165	9.63	FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
22	retina vasculature development in camera-type eye	GO:0061298	9.61	PDGFRA PDGFRB
23	ectopic germ cell programmed cell death	GO:0035234	9.58	KIT KITLG
24	metanephric glomerular capillary formation	GO:0072277	9.55	PDGFRA PDGFRB
25	positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	GO:0038091	9.54	PDGFRA PDGFRB
26	positive regulation of phosphatidylinositol 3-kinase signaling	GO:0014068	9.35	FGFR1 JAK2 KIT PDGFRA PDGFRB
27	positive regulation of phospholipase C activity	GO:0010863	8.92	FGFR1 KIT PDGFRA PDGFRB
28	cell differentiation	GO:0030154	10.05	FGFR1 JAK2 KIT PDGFRA PDGFRB
29	phosphorylation	GO:0016310	10.02	FGFR1 JAK2 KIT PDGFRA PDGFRB
30	protein phosphorylation	GO:0006468	10.02	FGFR1 JAK2 KIT PDGFRA PDGFRB
31	negative regulation of apoptotic process	GO:0043066	10	FGFR1 KIT KITLG PDGFRA PDGFRB

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	kinase activity	GO:0016301	9.88	FGFR1 JAK2 KIT PDGFRA PDGFRB
2	protein kinase activity	GO:0004672	9.85	FGFR1 JAK2 KIT PDGFRA PDGFRB
3	transmembrane signaling receptor activity	GO:0004888	9.73	FGFR1 KIT PDGFRA PDGFRB
4	nucleotide binding	GO:0000166	9.72	FGFR1 JAK2 KIT PDGFRA PDGFRB
5	transmembrane receptor protein tyrosine kinase activity	GO:0004714	9.56	FGFR1 KIT PDGFRA PDGFRB
6	protein tyrosine kinase activity	GO:0004713	9.55	FGFR1 JAK2 KIT PDGFRA PDGFRB
7	phosphatidylinositol 3-kinase binding	GO:0043548	9.52	JAK2 PDGFRB
8	platelet-derived growth factor receptor binding	GO:0005161	9.51	PDGFRA PDGFRB
9	platelet-derived growth factor binding	GO:0048407	9.49	PDGFRA PDGFRB
10	vascular endothelial growth factor binding	GO:0038085	9.4	PDGFRA PDGFRB
11	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	GO:0046934	9.35	FGFR1 KIT KITLG PDGFRA PDGFRB
12	Ras guanyl-nucleotide exchange factor activity	GO:0005088	9.1	FGFR1 JAK2 KIT KITLG PDGFRA PDGFRB
13	protein binding	GO:0005515	10.18	ASXL1 CD2 FGFR1 FIP1L1 HDC IFNA2

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 (SMCD)

Aliases & Classifications for Systemic Mastocytosis

MalaCards integrated aliases for Systemic Mastocytosis:

Classifications:

External Ids:

Summaries for Systemic Mastocytosis

Related Diseases for Systemic Mastocytosis

Diseases in the Mastocytosis family:

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 (0 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 :