Thrombocythemia 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

THCYT1 MCID: THR090 MIFTS: 49	Thrombocythemia 1 (THCYT1) Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Thrombocythemia 1

MalaCards integrated aliases for Thrombocythemia 1:

Name: Thrombocythemia 1 ⁵⁶ ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Thrombocytosis 1 ⁵⁶ ⁷³

Thcyt1 ⁵⁶ ⁷³

Thrombocythemia, Essential ⁷¹

Essential Thrombocythemia ⁷³

Thrombocythemia, Somatic ⁵⁶

Thrombocythemia, Type 1 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

thrombocythemia 1:
Inheritance autosomal dominant inheritance somatic mutation

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 187950

OMIM Phenotypic Series ⁵⁶ PS187950

MeSH ⁴³ D013920

MedGen ⁴¹ C0040028 C3277671

SNOMED-CT via HPO ⁶⁸ 124975008 16294009 24184005 more

UMLS ⁷¹ C0040028 C3277671

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Summaries for Thrombocythemia 1

OMIM : ⁵⁶ Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998). (187950)

MalaCards based summary : Thrombocythemia 1, also known as thrombocytosis 1, is related to polycythemia vera and myeloproliferative neoplasm. An important gene associated with Thrombocythemia 1 is THPO (Thrombopoietin), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Integrin alphaIIb beta3 signaling. The drugs Anagrelide and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are splenomegaly and acrocyanosis

UniProtKB/Swiss-Prot : ⁷³ Thrombocythemia 1: A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes.

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Related Diseases for Thrombocythemia 1

Diseases in the Essential Thrombocythemia family:

Thrombocythemia 1	Thrombocythemia 2
Thrombocythemia 3

Diseases related to Thrombocythemia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 343)

#	Related Disease	Score	Top Affiliating Genes
1	polycythemia vera	31.9	THPO MPL CALR
2	myeloproliferative neoplasm	31.1	THPO SH2B3 MPL CALR
3	polycythemia	30.2	THPO SH2B3 MPL CALR
4	purpura	30.1	THPO MPL
5	myelofibrosis	30.1	THPO SH2B3 MPL CALR
6	thrombocytosis	30.0	THPO SH2B3 MPL CALR
7	thrombocytopenia due to platelet alloimmunization	29.9	THPO MPL
8	budd-chiari syndrome	29.9	MPL CALR
9	thrombocytopenic purpura, autoimmune	29.9	THPO MPL
10	portal vein thrombosis	29.9	MPL CALR
11	thrombocytopenia	29.9	THPO MPL CALR
12	pancytopenia	29.8	THPO MPL
13	leukemia, acute myeloid	29.8	THPO MPL CALR
14	blood platelet disease	29.7	THPO MPL
15	myelodysplastic syndrome	29.3	THPO SH2B3 MPL CALR
16	chronic myelomonocytic leukemia	29.1	MPL CALR
17	essential thrombocythemia	28.4	THPO SH2B3 MPL CALR
18	acquired von willebrand syndrome	11.7
19	thrombocythemia 3	11.3
20	thrombosis	10.8
21	splenomegaly	10.8
22	acute leukemia	10.8
23	thrombophilia due to thrombin defect	10.7
24	myeloid leukemia	10.7
25	leukemia, chronic myeloid	10.6
26	erythromelalgia	10.6
27	leukemia	10.6
28	myocardial infarction	10.5
29	ischemia	10.4
30	thrombophilia	10.4
31	acute myocardial infarction	10.4
32	myeloma, multiple	10.4
33	stroke, ischemic	10.4
34	deficiency anemia	10.4
35	transient cerebral ischemia	10.4
36	pulmonary embolism	10.4
37	leukemia, chronic lymphocytic	10.3
38	von willebrand's disease	10.3
39	iron metabolism disease	10.3
40	chromosomal triplication	10.3
41	hypercholesterolemia, familial, 1	10.3
42	coronary thrombosis	10.3
43	heparin-induced thrombocytopenia	10.3
44	refractory anemia	10.3
45	portal hypertension	10.3
46	neutropenia	10.3
47	splenic infarction	10.3
48	myeloid sarcoma	10.3
49	intermediate coronary syndrome	10.3
50	atrial standstill 1	10.3

Graphical network of the top 20 diseases related to Thrombocythemia 1:

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Symptoms & Phenotypes for Thrombocythemia 1

Human phenotypes related to Thrombocythemia 1:

³¹ (show all 7)

#	Description	HPO Source Accession
1	splenomegaly ³¹	HP:0001744
2	acrocyanosis ³¹	HP:0001063
3	hypertension ³¹	HP:0000822
4	abnormality of the skeletal system ³¹	HP:0000924
5	myeloproliferative disorder ³¹	HP:0005547
6	thrombocytosis ³¹	HP:0001894
7	impaired platelet aggregation ³¹	HP:0003540

Symptoms via clinical synopsis from OMIM:

⁵⁶

Cardiovascular Vascular:
thrombotic episodes
hemorrhagic episodes

Laboratory Abnormalities:
increased serum thrombopoietin may occur

Hematology:
thrombocythemia
increased bone marrow megakaryocytes

Clinical features from OMIM:

187950

Sources

Drugs & Therapeutics for Thrombocythemia 1

Drugs for Thrombocythemia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 224)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Anagrelide

Approved

Phase 4

68475-42-3

2182

tannic acid

Approved

Phase 4

1401-55-4

Benzocaine

Approved, Investigational

Phase 4

94-09-7, 1994-09-7

2337

Panobinostat

Approved, Investigational

Phase 4

404950-80-7

6918837

Lactitol

Approved, Investigational

Phase 4

585-88-6, 585-86-4

493591

Histone Deacetylase Inhibitors

Phase 4

Ketamine

Approved, Vet_approved

Phase 3

6740-88-1

3821

Pomalidomide

Approved

Phase 3

19171-19-8

Clotrimazole

Approved, Vet_approved

Phase 3

23593-75-1

2812

Miconazole

Approved, Investigational, Vet_approved

Phase 3

22916-47-8

4189

Carboplatin

Approved

Phase 2, Phase 3

41575-94-4

10339178 38904 498142

Etoposide

Approved

Phase 2, Phase 3

33419-42-0

36462

Thiotepa

Approved, Investigational

Phase 2, Phase 3

52-24-4

5453

Dalteparin

Approved

Phase 3

9005-49-6

Tinzaparin

Approved

Phase 3

9041-08-1, 9005-49-6

25244225

Dextromethorphan

Approved

Phase 3

125-71-3

5360696 5362449

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 3

437-38-7

3345

Caspofungin

Approved

Phase 3

162808-62-0, 179463-17-3

2826718 468682

Amphotericin B

Approved, Investigational

Phase 3

1397-89-3

5280965 14956

Peginterferon alfa-2b

Approved

Phase 3

99210-65-8, 215647-85-1

Peginterferon alfa-2a

Approved, Investigational

Phase 3

198153-51-4

5360545

Mercaptopurine

Approved

Phase 3

50-44-2

667490

Danazol

Approved

Phase 3

17230-88-5

28417

Melphalan

Approved

Phase 3

148-82-3

460612 4053

Cytarabine

Approved, Experimental, Investigational

Phase 3

147-94-4, 65-46-3

6253

St. John's Wort

Approved, Investigational, Nutraceutical

Phase 3

84082-80-4

Ginseng

Approved, Investigational, Nutraceutical

Phase 3

50647-08-0

Pancreatic Polypeptide

Investigational

Phase 3

59763-91-6

Anesthetics, Dissociative

Phase 3

Fibrinolytic Agents

Phase 3

Platelet Aggregation Inhibitors

Phase 3

Anti-Infective Agents

Phase 3

Androgens

Phase 3

Analgesics

Phase 3

Hormones

Phase 3

Angiogenesis Inhibitors

Phase 3

Anti-Bacterial Agents

Phase 3

Neurotransmitter Agents

Phase 3

Antifungal Agents

Phase 3

Liver Extracts

Phase 3

Etoposide phosphate

Phase 2, Phase 3

Cola

Phase 3

Analgesics, Opioid

Phase 3

Psychotropic Drugs

Phase 3

Anti-Anxiety Agents

Phase 3

Antipsychotic Agents

Phase 3

Antiprotozoal Agents

Phase 3

Antiparasitic Agents

Phase 3

Heparin, Low-Molecular-Weight

Phase 3

Excitatory Amino Acid Antagonists

Phase 3

Interventional clinical trials:

(show top 50) (show all 279)

#	Name	Status	NCT ID	Phase	Drugs
1	A UK Open-label, Multicentre, Exploratory Phase II Study of INC424 for Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF)	Completed	NCT01558739	Phase 4	INC424
2	A Phase IIIb, Randomized, Open Label Study to Compare the Safety, Efficacy and Tolerability of Anagrelide Hydrochloride Versus Hydroxyurea in High-Risk Essential Thrombocythaemia Patients.	Completed	NCT00202644	Phase 4	Anagrelide;Hydroxyurea
3	A Multicenter, Open-label, Clinical Study for Efficacy and Safety Evaluation of Anagrelide in Patients With Treatment-naïve, High-risk Essential Thrombocythemia as a Primary Treatment	Recruiting	NCT03232177	Phase 4	Anagre Cap.
4	A Prospective, Single-center Clinical Trial of Pegylated Interferon Alfa-2b Versus Interferon Alfa Therapy in the Treatment of Childhood Essential Thrombocythemia	Recruiting	NCT04226950	Phase 4	Recombinant Interferon Alpha;Pegylated interferon alfa-2b
5	Open Label, Multi-center, Phase IV Study of Ruxolitinib or Ruxolitinib and Panobinostat Combination, for Patients Who Have Completed Prior Global Novartis or Incyte Sponsored Studies	Recruiting	NCT02386800	Phase 4	ruxolitinib tablets or oral pediatric formulation, panobinostat capsules;ruxolitinib tablets or oral pediatric formulation
6	A Randomized Double-Blind Controlled Trial of Ketamine Versus Placebo in Conjunction With Best Pain Management in Neuropathic Pain in Cancer Patients	Unknown status	NCT01316744	Phase 3	ketamine hydrochloride
7	A Multicenter, Open-label Clinical Study of the JAK Inhibitor Ruxolitinib (INC424) in Patients With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis	Completed	NCT02087059	Phase 3	Ruxolitinib
8	An Open-label, Multicenter, Expanded Access Study of INC424 for Patients With Primary Myelofibrosis (PMF) or Post Polycythemia Myelofibrosis (PPV MF) or Post-essential Thrombocythemia Myelofibrosis (PET-MF).	Completed	NCT01493414	Phase 3	INC424
9	A Phase 3, Open-label, Single-arm Study Evaluating the Effect of SPD422 on Platelet Lowering and Safety in Japanese Adults With At Risk Essential Thrombocythaemia Who Are Intolerant or Refractory to Current Cytoreductive Treatment	Completed	NCT01214915	Phase 3	Anagrelide Hydrochloride
10	A Phase 3, Multi-centre, Open-label, Extension Study to Investigate the Long-term Safety of SPD422 in Japanese Adults With Essential Thrombocythaemia	Completed	NCT01467661	Phase 3	SPD422 (anagrelide hydrochloride)
11	A Phase III Randomized, Multicenter, Double-blind, Active Controlled Study to Compare the Efficacy and Safety of Two Different Anagrelide Formulations in Patients With Essential Thrombocythemia (TEAM-ET 2.0)	Completed	NCT02076815	Phase 3	Anagrelide retard;Thromboreductin
12	A Phase 3, Randomized, Double-blind Active-controlled Study Evaluating Momelotinib vs. Ruxolitinib in Subjects With Primary Myelofibrosis (PMF) or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis (Post-PV/ET MF)	Completed	NCT01969838	Phase 3	Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
13	A Phase 3, Randomized Study To Evaluate the Efficacy of Momelotinib Versus Best Available Therapy in Anemic or Thrombocytopenic Subjects With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis Who Were Treated With Ruxolitinib	Completed	NCT02101268	Phase 3	Momelotinib;Best Available Therapy (BAT)
14	Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea Therapy in the Treatment of High Risk Polycythemia Vera (PV) and High Risk Essential Thrombocythemia (ET)	Completed	NCT01259856	Phase 3	PEGASYS;Hydroxyurea;Aspirin
15	A Randomized Study of Ruxolitinib Tablets Compared to Best Available Therapy in Subjects With Primary Myelofibrosis, Post-Polycythemia Vera-Myelofibrosis or Post-Essential Thrombocythemia Myelofibrosis	Completed	NCT00934544	Phase 3	Ruxolitinib;Best Available Therapy (BAT)
16	A Randomized, Double-blind, Placebo-controlled Study of the JAK Inhibitor INCB018424 Tablets Administered Orally to Subjects With Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis or Post-Essential Thrombocythemia Myelofibrosis	Completed	NCT00952289	Phase 3	Ruxolitinib;Placebo
17	A Single Blind, Multi-centre, Randomised Multinational Phase III Study to Compare the Efficacy and Tolerability of Anagrelide vs Hydroxyurea in Patients With Essential Thrombocythaemia	Completed	NCT01065038	Phase 3	Anagrelide;Hydroxyurea
18	A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled, 3-Arm Study of SAR302503 in Patients With Intermediate-2 or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis With Splenomegaly	Completed	NCT01437787	Phase 3	SAR302503;Placebo
19	A Phase-3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Compare Efficacy and Safety of Pomalidomide in Subjects With Myeloproliferative Neoplasm-Associated Myelofibrosis and Red Blood Cell-Transfusion-Dependence	Completed	NCT01178281	Phase 3	Pomalidomide 0.5 mg;Placebo;Pomalidomide
20	A Phase III, Randomized, Multicenter, Subject and Sponsor-blinded, Placebo Controlled Study to Compare the Efficacy and Safety of "Anagrelide Retard" Versus Placebo in "at Risk" Subjects With Essential Thrombocythaemia	Completed	NCT01230775	Phase 3	Anagrelide retard;Placebo
21	Phase III, Randomized, Double-Blind, Placebo-Controlled Crossover Trial of Ondansetron in the Control of Chronic Nausea and Vomiting Not Due to Antineoplastic Therapy in Patients With Advanced Cancer	Completed	NCT00006348	Phase 3	ondansetron
22	A Phase III Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effects of Fragmin (5,000 IU Subcutaneously) in Preventing Catheter-Related Complications When Given Daily to Cancer Patients With Central Venous Catheters	Completed	NCT00006083	Phase 3	Fragmin
23	Allogeneic Blood or Marrow Transplantation for Hematologic Malignancy and Aplastic Anemia	Completed	NCT00003816	Phase 2, Phase 3	busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
24	A Phase III Double-Blind Equivalence Study of Two Different Formulations of Slow-Release Morphine Followed by a Randomization Between Dextromethorphan or Placebo Plus Statex SR for Chronic Cancer Pain Relief in Terminally Ill Patients	Completed	NCT00003687	Phase 3	dextromethorphan hydrobromide;morphine sulfate
25	Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial	Completed	NCT00005805	Phase 3
26	Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT)	Completed	NCT00750009	Phase 3
27	A Strategic Study to Determine the Optimal Moment to Initiate Systemic Antifungal Therapy With Ambisome in Granulocytopenic Cancer Patients With Unexplained Fever Refractory to Empirical Antibacterials	Completed	NCT00003938	Phase 3	liposomal amphotericin B
28	A Multicenter, Double-Blind, Randomized, Comparative Study To Evaluate The Safety, Tolerability, And Efficacy Of MK-0991 Versus (Amphotericin B) Liposome For Injection As Empirical Therapy In Patients With Persistent Fever And Neutropenia	Completed	NCT00008359	Phase 3	caspofungin acetate;liposomal amphotericin B
29	The Use of American Ginseng (Panax Quinquefolius) to Improve Cancer-Related Fatigue: A Randomized, Double-Blind, Placebo-Controlled Phase III Study	Completed	NCT00719563	Phase 3	American ginseng
30	Phase III Randomized Trial of an Opioid Titration Order Sheet Compared to Standard of Care in Patients With Cancer Related Pain.	Completed	NCT00666211	Phase 3
31	A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain	Completed	NCT00538850	Phase 3	Fentanyl sublingual spray;Placebo
32	A Phase 3b, Multicenter, Single-arm, Open-label Safety AND Efficacy Study of Fedratinib in Subjects With DIPSS-Intermediate or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis	Recruiting	NCT03755518	Phase 3	FEDRATINIB
33	A Phase 3, Multicenter, Open-label, Randomized Study to Evaluate the Efficacy and Safety of Fedratinib Compared to Best Available Therapy (BAT) in Subjects With DIPSS (Dynamic International Prognostic Scoring System)-Intermediate or High-risk Primary Myelofibrosis (PMF), Post-polycythemia Vera Myelofibrosis (Post-PV MF), or Post-essential Thrombocythemia Myelofibrosis (Post-ET MF) and Previously Treated With Ruxolitinib	Recruiting	NCT03952039	Phase 3	FEDRATINIB;Best Available Therapy (BAT)
34	French Aspirin Study in Essential Thrombocythemia: an Open and Randomized Study	Recruiting	NCT02611973	Phase 3	Hydroxyurea treatment (HU)
35	A Randomized, Controlled Phase 3 Study of Pacritinib Versus Physician's Choice in Patients With Primary Myelofibrosis, Post Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis With Severe Thrombocytopenia (Platelet Count <50,000/μL)(PACIFICA)	Recruiting	NCT03165734	Phase 3	Pacritinib;Physician's Choice medications
36	A Randomized, Double-Blind, Phase 3 Study of Momelotinib vs Danazol in Symptomatic, Anemic Subjects With Previously JAKi Treated Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post Essential Thrombocythemia Myelofibrosis	Recruiting	NCT04173494	Phase 3	Momelotinib;Danazol;Placebo to match momelotinib;Placebo to match danazol
37	A Randomized, Multicenter Phase IIb Study to Evaluate the Efficacy and Safety of Ruxolitinib Versus Best Available Therapy in Patients With High Risk Essential Thrombocythemia, Who Are Resistant or Intolerant to Hydroxyurea: A FIM Study	Active, not recruiting	NCT02962388	Phase 2, Phase 3	Anagrelide;Ruxolitinib (JAKAVI®);IFNα/ PegIFNα
38	Danish Study of Low-dose Interferon Alpha Versus Hydroxyurea in the Treatment of Philadelphia Chromosome Negative (Ph-)Chronic Myeloid Neoplasms.	Active, not recruiting	NCT01387763	Phase 3	PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
39	A Phase 3, Open-Label, Multicenter, Randomized, Active-controlled Study to Assess Pharmacokinetics and Compare the Efficacy, Safety, and Tolerability of P1101 vs Anagrelide as Second Line Therapy for Essential Thrombocythemia	Not yet recruiting	NCT04285086	Phase 3
40	A Randomized Controlled Phase 3 Study of Oral Pacritinib Versus Best Available Therapy in Patients With Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis	Terminated	NCT01773187	Phase 3	Pacritinib;Best Available Therapy
41	A Randomized Controlled Phase 3 Study of Oral Pacritinib Versus Best Available Therapy in Patients With Thrombocytopenia and Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis	Terminated	NCT02055781	Phase 3	Pacritinib;Best Available Therapy
42	A Phase I/II Open Label Study of LBH589, a Novel Histone Deacetylase Inhibitor (HDACi), in Patients With Primary Myelofibrosis (PMF) and Post-polycythemia/Essential Thrombocythemia Myelofibrosis (Post-PV/ET MF)	Unknown status	NCT01298934	Phase 1, Phase 2	LBH589
43	A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia.	Unknown status	NCT00866762	Phase 2	HDAC inhibitor (MK-0683)
44	A Multicenter, Open Label Phase I/II Study of CEP-701 (Lestaurtinib) in Adults With Myelofibrosis	Unknown status	NCT00668421	Phase 1, Phase 2	CEP-701 (Lestaurtinib)
45	Open-label Study to Assess the Long-term Safety and Efficacy of Momelotinib in Subjects With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, Post Essential Thrombocythemia Myelofibrosis, Polycythemia Vera or Essential Thrombocythemia	Completed	NCT02124746	Phase 2	Momelotinib
46	A Phase 2, Open-label, Translational Biology Study of Momelotinib in Transfusion-Dependent Subjects With Primary Myelofibrosis (PMF) or Post-polycythemia Vera or Post-essential Thrombocythemia Myelofibrosis (Post-PV/ET MF)	Completed	NCT02515630	Phase 2	MMB
47	A Multi-national Open-label Phase II Study of the JAK Inhibitor INC424 in Patients With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis	Completed	NCT01392443	Phase 2	Ruxolitinib
48	A Phase II Trial to Evaluate the Activity of Imetelstat (GRN163L) in Patients With Essential Thrombocythemia or Polycythemia Vera Who Require Cytoreduction and Have Failed or Are Intolerant to Previous Therapy, or Who Refuse Standard Therapy	Completed	NCT01243073	Phase 2	Imetelstat
49	An Open-Label Assessment of Safety and Efficacy of Ruxolitinib (INCB018424) in Subjects With Primary Myelofibrosis, Post- Essential Thrombocythemia Myelofibrosis, and Post-Polycythemia Vera Myelofibrosis Who Have Platelet Counts of 50 × 10^9/L to 100 × 10^9/L	Completed	NCT01348490	Phase 2	Ruxolitinib
50	A Phase 1/2 Study of Oral SB1518 in Subjects With Chronic Idiopathic Myelofibrosis	Completed	NCT00745550	Phase 1, Phase 2	SB1518

Search NIH Clinical Center for Thrombocythemia 1

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

hydroxyurea

Interferon Alfa-2a

Interferon Alfa-2b

INTERFERON ALFA-3N,HUMAN LEUKOCYTE DERIVED

interferon alfacon-1

Interferon gamma-1b

Interferons

peginterferon alfa-2a

peginterferon alfa-2b

Recombinant interferon beta-1a

Recombinant interferon beta-1b

Sources

Genetic Tests for Thrombocythemia 1

Genetic tests related to Thrombocythemia 1:

#	Genetic test	Affiliating Genes
1	Thrombocythemia 1 ²⁹	CALR SH2B3 THPO

Sources

Anatomical Context for Thrombocythemia 1

MalaCards organs/tissues related to Thrombocythemia 1:

⁴⁰

Myeloid, Bone, Bone Marrow, T Cells, Testes, Liver, Lung

Sources

Publications for Thrombocythemia 1

Articles related to Thrombocythemia 1:

(show all 37)

#	Title	Authors	PMID	Year
1	Somatic mutations of calreticulin in myeloproliferative neoplasms. ⁵⁶ ⁶	Klampfl T...Kralovics R	24325356	2013
2	Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. ⁶ ⁵⁶	Nangalia J...Green AR	24325359	2013
3	Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene. ⁶ ⁵⁶	Ghilardi N...Skoda RC	10583217	1999
4	An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. ⁵⁶ ⁶	Wiestner A...Skoda RC	9425899	1998
5	Familial thrombocytosis. ⁶ ⁵⁶	Kikuchi M...Ohsaka A	7772529	1995
6	Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. ⁶	Oh ST...Gotlib J	20404132	2010
7	Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. ⁶	Graziano C...Seri M	19553636	2009
8	Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene. ⁶	Kondo T...Asaka M	9694695	1998
9	Benign familial microcytic thrombocytosis with autosomal dominant transmission. ⁵⁶	Cohen N...Golik A	9272712	1997
10	Familial thrombocytosis in infancy presenting with a leukaemoid reaction. ⁵⁶	van Dijken PJ...van Wouwe JP	8888933	1996
11	Familial essential thrombocythemia: clinical characteristics of 11 cases in one family. ⁵⁶	Schlemper RJ...Eikenboom JC	8167182	1994
12	Familial essential thrombocythemia. ⁵⁶	Fernandez-Robles E...Cornu G	2268537	1990
13	Sideroblastic anemia associated with thrombocytosis and a chromosome 3 abnormality. ⁵⁶	Carroll AJ...Crist WM	3458520	1986
14	Familial essential thrombocythemia. ⁵⁶	Eyster ME...Luderer JR	3953624	1986
15	Chromosomal abnormalities in essential thrombocythemia. ⁵⁶	Emilia G...Donelli A	4040804	1985
16	Absence of a specific chromosomal marker in essential thrombocythemia. ⁵⁶	Case DC	6722757	1984
17	Philadelphia chromosome-positive thrombocythemia with leukemic transformation. ⁵⁶	Verhest A...Monsieur R	6574316	1983
18	Chromosome 3 abnormalities in acute nonlymphocytic leukemia (ANLL) with abnormal thrombopoiesis: report of three patients with a "new" inversion anomaly and a further case of homologous translocation. ⁵⁶	Bernstein R...Mendelow B	7104489	1982
19	Ph1 -positive CML associated with megakaryocytic hyperplasia and thrombocythemia and an abnormality of chromosome no. 3. ⁵⁶	Carbonell F...Bartl R	6955003	1982
20	Rearrangement of chromosome no. 3 in a case of preleukemia with thrombocytosis. ⁵⁶	Norrby A...Westin J	7066881	1982
21	The occurrence of the philadelphia chromosome in essential thrombocytosis. ⁵⁶	Rajendra BR...Sciorra LJ	6940825	1981
22	Familial myeloproliferative disease. Hematological and cytogenetic studies. ⁵⁶	Slee PH...den Ottolander GJ	7315532	1981
23	Primary thrombocythaemia in monozygotic twins. ⁵⁶	Dodsworth H	7388565	1980
24	A chromosomal abnormality (21q-) in primary thrombocytosis. ⁵⁶	Petit P...Van den Berghe H	468256	1979
25	Platelet function in essential thrombocythemia. Decreased epinephrine responsiveness associated with a deficiency of platelet alpha-adrenergic receptors. ⁵⁶	Kaywin P...Shattil SJ	210377	1978
26	A chromosomal abnormality in primary thrombocythemia. ⁵⁶	Zaccaria A...Tura S	652012	1978
27	Thrombocythaemia. Familial occurrence and transition into blastic crisis. ⁵⁶	Fickers M...Speck B	4365053	1974
28	Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea. ⁶¹	Jung N...Shim YJ	32067437	2020
29	[Prognosis and Survival Analysis of Patients with Essential Thrombocythemia]. ⁶¹	Chen M...Liu QD	28446303	2017
30	Does an elevated serum vitamin B(12) level mask actual vitamin B(12) deficiency in myeloproliferative disorders? ⁶¹	Gauchan D...Maroules M	22424943	2012
31	Blood tests may predict early primary myelofibrosis in patients presenting with essential thrombocythemia. ⁶¹	Carobbio A...Barbui T	22237692	2012
32	The role of Janus Kinase 2 V617F mutation in extramedullary hematopoiesis of the spleen in neoplastic myeloid disorders. ⁶¹	Hsieh PP...Chang CC	17643100	2007
33	Management of essential thrombocythemia: implications of the medical research council primary thrombocythemia 1 trial. ⁶¹	Harrison CN	16673283	2006
34	Analysis of loss of heterozygosity and X chromosome inactivation in spleens with myeloproliferative disorders and acute myeloid leukemia. ⁶¹	O'Malley DP...Cheng L	16118625	2005
35	Increased thromboxane biosynthesis in essential thrombocythemia. ⁶¹	Rocca B...Landolfi R	8607099	1995
36	Molecular mechanisms of tumor progression in chronic myeloproliferative disorders. ⁶¹	Gaidano G...Saglio G	8152300	1994
37	Endogenous megakaryocyte colonies from peripheral blood in precursor cell cultures of patients with myeloproliferative disorders. ⁶¹	Battegay EJ...Speck B	2656291	1989

Sources

Genes for Thrombocythemia 1

Genes related to Thrombocythemia 1 (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	THPO	Thrombopoietin	Protein Coding	1027.55	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	10583217 9694695 7772529 (more) 19553636 9425899
2	SH2B3	SH2B Adaptor Protein 3	Protein Coding	1007.46	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	20404132
3	CALR	Calreticulin	Protein Coding	1006.91	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	24325356 24325359
4	MPL	MPL Proto-Oncogene, Thrombopoietin Receptor	Protein Coding	408.98	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
5	CUX2	Cut Like Homeobox 2	Protein Coding	6.91	GeneCards inferred via : Variants (show sections)

Sources

Variations for Thrombocythemia 1

ClinVar genetic disease variations for Thrombocythemia 1:

⁶ (show top 50) (show all 106) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	THPO	NM_000460.4(THPO):c.-47del	deletion	Pathogenic	872935
2	SH2B3	NM_001291424.1(SH2B3):c.577G>A (p.Glu193Lys)	SNV	Pathogenic	619973	rs148636776	12:111885295-111885295	12:111447491-111447491
3	THPO	THPO, IVS3, G-C, +1	SNV	Pathogenic	9508
4	THPO	THPO, 1-BP DEL, 3252G	deletion	Pathogenic	9509
5	THPO	THPO, 516G-T	SNV	Pathogenic	9510
6	CALR	NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)	deletion	Pathogenic	97006	rs1555760738	19:13054565-13054616	19:12943751-12943802
7	MPL	NM_005373.2(MPL):c.1514G>A (p.Ser505Asn)	SNV	Pathogenic/Likely pathogenic	14163	rs121913614	1:43814979-43814979	1:43349308-43349308
8	MPL	NM_005373.2(MPL):c.413del (p.Ile138fs)	deletion	Pathogenic/Likely pathogenic	528088	rs1343123940	1:43804963-43804963	1:43339292-43339292
9	ATG2B , BDKRB1 , BDKRB2 , C14orf132 , GSKIP , LOC107984703 , LOC112272571 , TCL1A , TUNAR	NC_000014.8:g.96163103_96857129dup	duplication	Likely pathogenic	208237		14:96163103-96857129	14:95696766-96390792
10	MPL	NM_005373.2(MPL):c.1102G>T (p.Val368Leu)	SNV	Conflicting interpretations of pathogenicity	134839	rs149810307	1:43812237-43812237	1:43346566-43346566
11	MPL	NM_005373.2(MPL):c.1565+5C>T	SNV	Conflicting interpretations of pathogenicity	135564	rs41269541	1:43815035-43815035	1:43349364-43349364
12	THPO	NM_000460.4(THPO):c.356G>A (p.Arg119His)	SNV	Conflicting interpretations of pathogenicity	197671	rs143216798	3:184091243-184091243	3:184373455-184373455
13	THPO	NM_000460.4(THPO):c.*18G>A	SNV	Conflicting interpretations of pathogenicity	286872	rs180680111	3:184090283-184090283	3:184372495-184372495
14	MPL	NM_005373.2(MPL):c.854-3T>C	SNV	Conflicting interpretations of pathogenicity	297401	rs201514537	1:43806055-43806055	1:43340384-43340384
15	THPO	NM_000460.4(THPO):c.579C>T (p.Asn193=)	SNV	Conflicting interpretations of pathogenicity	764293		3:184090784-184090784	3:184372996-184372996
16	MPL	NM_005373.2(MPL):c.*1674A>T	SNV	Conflicting interpretations of pathogenicity	297438	rs536844021	1:43820117-43820117	1:43354446-43354446
17	MPL	NM_005373.2(MPL):c.690+11C>T	SNV	Conflicting interpretations of pathogenicity	297400	rs144769485	1:43805251-43805251	1:43339580-43339580
18	MPL	NM_005373.2(MPL):c.1467C>T (p.Thr489=)	SNV	Conflicting interpretations of pathogenicity	297407	rs759161511	1:43814672-43814672	1:43349001-43349001
19	MPL	NM_005373.2(MPL):c.1666G>T (p.Val556Phe)	SNV	Conflicting interpretations of pathogenicity	297411	rs150004498	1:43818201-43818201	1:43352530-43352530
20	MPL	NM_005373.2(MPL):c.*400C>T	SNV	Conflicting interpretations of pathogenicity	297415	rs558390922	1:43818843-43818843	1:43353172-43353172
21	MPL	NM_005373.2(MPL):c.701_705dup	duplication	Uncertain significance	297419	rs752218261	1:43819118-43819119	1:43353447-43353448
22	MPL	NM_005373.2(MPL):c.*882C>T	SNV	Uncertain significance	297424	rs777894453	1:43819325-43819325	1:43353654-43353654
23	MPL	NM_005373.2(MPL):c.*86C>T	SNV	Uncertain significance	297412	rs777930147	1:43818529-43818529	1:43352858-43352858
24	MPL	NM_005373.2(MPL):c.*657C>T	SNV	Uncertain significance	297417	rs886046352	1:43819100-43819100	1:43353429-43353429
25	MPL	NM_005373.2(MPL):c.1238C>T (p.Pro413Leu)	SNV	Uncertain significance	297404	rs886046350	1:43812535-43812535	1:43346864-43346864
26	MPL	NM_005373.2(MPL):c.1331C>A (p.Ala444Asp)	SNV	Uncertain significance	297405	rs886046351	1:43814536-43814536	1:43348865-43348865
27	MPL	NM_005373.2(MPL):c.*871G>A	SNV	Uncertain significance	297423	rs540648773	1:43819314-43819314	1:43353643-43353643
28	MPL	NM_005373.2(MPL):c.*1216A>G	SNV	Uncertain significance	297432	rs886046356	1:43819659-43819659	1:43353988-43353988
29	MPL	NM_005373.2(MPL):c.*1351T>C	SNV	Uncertain significance	297433	rs886046357	1:43819794-43819794	1:43354123-43354123
30	THPO	NM_000460.4(THPO):c.517G>A (p.Val173Ile)	SNV	Uncertain significance	344372	rs780992873	3:184090846-184090846	3:184373058-184373058
31	THPO	NM_000460.4(THPO):c.303A>G (p.Gln101=)	SNV	Uncertain significance	344373	rs775232517	3:184091296-184091296	3:184373508-184373508
32	THPO	NM_000460.4(THPO):c.889A>G (p.Thr297Ala)	SNV	Uncertain significance	344370	rs530613857	3:184090474-184090474	3:184372686-184372686
33	THPO	NM_000460.4(THPO):c.671G>A (p.Gly224Glu)	SNV	Uncertain significance	344371	rs886058218	3:184090692-184090692	3:184372904-184372904
34	THPO	NM_000460.4(THPO):c.-56G>A	SNV	Uncertain significance	344374	rs187556243	3:184094103-184094103	3:184376315-184376315
35	THPO	NM_000460.4(THPO):c.-123C>T	SNV	Uncertain significance	344375	rs535707667	3:184094170-184094170	3:184376382-184376382
36	THPO	NM_000460.4(THPO):c.-215T>A	SNV	Uncertain significance	344377	rs886058219	3:184095932-184095932	3:184378144-184378144
37	THPO	NM_000460.4(THPO):c.*500A>G	SNV	Uncertain significance	344365	rs886058217	3:184089801-184089801	3:184372013-184372013
38	THPO	NM_000460.4(THPO):c.*404G>A	SNV	Uncertain significance	344367	rs573846929	3:184089897-184089897	3:184372109-184372109
39	MPL	NM_005373.2(MPL):c.*1506G>C	SNV	Uncertain significance	297436	rs115780311	1:43819949-43819949	1:43354278-43354278
40	THPO	NM_001290003.1(THPO):c.98C>T (p.Pro33Leu)	SNV	Uncertain significance	801004		3:184096040-184096040	3:184378252-184378252
41	CUX2 , SH2B3	NM_005475.2(SH2B3):c.622G>C (p.Glu208Gln)	SNV	Uncertain significance	30445	rs202080221	12:111856571-111856571	12:111418767-111418767
42	THPO	NM_000460.4(THPO):c.791_794del (p.Pro264fs)	deletion	Uncertain significance	632414	rs760659440	3:184090569-184090572	3:184372781-184372784
43	MPL	NM_005373.2(MPL):c.1473G>C (p.Trp491Cys)	SNV	Uncertain significance	571857	rs121913613	1:43814938-43814938	1:43349267-43349267
44	MPL	NM_005373.2(MPL):c.1805T>C (p.Met602Thr)	SNV	Uncertain significance	582171	rs770770219	1:43818340-43818340	1:43352669-43352669
45	MPL	NM_005373.2(MPL):c.1460C>T (p.Thr487Ile)	SNV	Uncertain significance	576110	rs770428240	1:43814665-43814665	1:43348994-43348994
46	THPO	NM_000460.4(THPO):c.808G>A (p.Gly270Arg)	SNV	Uncertain significance	903383		3:184090555-184090555	3:184372767-184372767
47	THPO	NM_000460.4(THPO):c.796C>T (p.Arg266Cys)	SNV	Uncertain significance	903384		3:184090567-184090567	3:184372779-184372779
48	THPO	NM_000460.4(THPO):c.740T>C (p.Leu247Pro)	SNV	Uncertain significance	903385		3:184090623-184090623	3:184372835-184372835
49	MPL	NM_005373.2(MPL):c.173C>T (p.Ala58Val)	SNV	Uncertain significance	412015	rs6087	1:43803863-43803863	1:43338192-43338192
50	MPL	NM_005373.2(MPL):c.212G>A (p.Arg71Gln)	SNV	Uncertain significance	458371	rs368753117	1:43803902-43803902	1:43338231-43338231

Sources

Expression for Thrombocythemia 1

Search GEO for disease gene expression data for Thrombocythemia 1.

Sources

Pathways for Thrombocythemia 1

Pathways related to Thrombocythemia 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Visual Cycle in Retinal Rods ⁶³	11.13	THPO MPL
2	Integrin alphaIIb beta3 signaling ⁶⁵ Show member pathways GRB2-SOS provides linkage to MAPK signaling for Integrins ⁶⁵ p130Cas linkage to MAPK signaling for integrins ⁶⁵ Platelet Aggregation (Plug Formation) ⁶⁵	10.95	THPO MPL
3	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁴	10.86	THPO SH2B3 MPL

Sources

GO Terms for Thrombocythemia 1

Biological processes related to Thrombocythemia 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to organic substance	GO:0071310	9.32	CUX2 CALR
2	megakaryocyte development	GO:0035855	9.26	THPO SH2B3
3	neutrophil homeostasis	GO:0001780	9.16	SH2B3 MPL
4	monocyte homeostasis	GO:0035702	8.96	SH2B3 MPL
5	thrombopoietin-mediated signaling pathway	GO:0038163	8.8	THPO SH2B3 MPL

Sources

Sources for Thrombocythemia 1

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Thrombocythemia 1 (THCYT1)

Aliases & Classifications for Thrombocythemia 1

MalaCards integrated aliases for Thrombocythemia 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Thrombocythemia 1

Related Diseases for Thrombocythemia 1

Diseases in the Essential Thrombocythemia family:

Diseases related to Thrombocythemia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Thrombocythemia 1:

Symptoms & Phenotypes for Thrombocythemia 1

Human phenotypes related to Thrombocythemia 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Thrombocythemia 1

Drugs for Thrombocythemia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Inferred drug relations via UMLS 71 / NDF-RT 50 :

Genetic Tests for Thrombocythemia 1

Genetic tests related to Thrombocythemia 1:

Anatomical Context for Thrombocythemia 1

MalaCards organs/tissues related to Thrombocythemia 1:

Publications for Thrombocythemia 1

Articles related to Thrombocythemia 1:

Genes for Thrombocythemia 1

Genes related to Thrombocythemia 1 (4 elite genes):

Variations for Thrombocythemia 1

ClinVar genetic disease variations for Thrombocythemia 1:

Expression for Thrombocythemia 1

Pathways for Thrombocythemia 1

Pathways related to Thrombocythemia 1 according to GeneCards Suite gene sharing:

GO Terms for Thrombocythemia 1

Biological processes related to Thrombocythemia 1 according to GeneCards Suite gene sharing:

Sources for Thrombocythemia 1

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :