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THCYT1
MCID: THR090
MIFTS: 50

Thrombocythemia 1 (THCYT1)

Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Thrombocythemia 1

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MalaCards integrated aliases for Thrombocythemia 1:

Name: Thrombocythemia 1 57 73 29 13 6 71
Thrombocytosis 1 57 73
Thcyt1 57 73
Thrombocythemia, Essential 71
Essential Thrombocythemia 73
Thrombocythemia, Somatic 57
Thrombocythemia, Type 1 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
thrombocythemia 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Cardiovascular diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 187950
OMIM Phenotypic Series 57 PS187950
MeSH 44 D013920
UMLS 71 C0040028 C3277671
Sources

Summaries for Thrombocythemia 1

About this section
OMIM® : 57 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) (Updated 05-Mar-2021)

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 Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are splenomegaly and thrombocytosis

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.

Sources

Related Diseases for Thrombocythemia 1

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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 345)
# Related Disease Score Top Affiliating Genes
1 polycythemia vera 31.8 THPO MPL CALR
2 myeloproliferative neoplasm 31.2 THPO SH2B3 MPL CALR
3 polycythemia 31.0 THPO SH2B3 MPL CALR
4 thrombocytosis 30.8 THPO SH2B3 MPL CALR
5 myelofibrosis 30.5 THPO SH2B3 MPL GSKIP CALR
6 thrombocytopenia 30.4 THPO MPL CALR
7 purpura 30.3 THPO MPL
8 budd-chiari syndrome 30.3 MPL CALR
9 portal vein thrombosis 30.3 MPL CALR
10 leukemia, acute myeloid 30.3 THPO MPL GSKIP CALR
11 thrombocytopenic purpura, autoimmune 30.1 THPO MPL
12 myelodysplastic syndrome 30.1 THPO SH2B3 MPL CALR
13 thrombocytopenia due to platelet alloimmunization 30.1 THPO MPL
14 acute megakaryocytic leukemia 30.1 THPO MPL
15 deficiency anemia 30.0 THPO SH2B3 MPL
16 pancytopenia 29.9 THPO MPL
17 blood platelet disease 29.9 THPO MPL CALR
18 paroxysmal nocturnal hemoglobinuria 29.6 THPO MPL
19 essential thrombocythemia 27.8 THPO SH2B3 MPL GSKIP CUX2 CALR
20 acquired von willebrand syndrome 11.2
21 thrombocythemia 3 11.0
22 thrombosis 10.9
23 splenomegaly 10.8
24 acute leukemia 10.8
25 myeloid leukemia 10.7
26 leukemia, chronic myeloid 10.6
27 erythromelalgia 10.6
28 myocardial infarction 10.5
29 leukemia 10.5
30 acute myocardial infarction 10.5
31 thrombophilia 10.4
32 ischemia 10.4
33 myeloma, multiple 10.4
34 thrombophilia due to thrombin defect 10.4
35 von willebrand's disease 10.4
36 transient cerebral ischemia 10.4
37 leukemia, chronic lymphocytic 10.3
38 iron metabolism disease 10.3
39 chromosomal triplication 10.3
40 hypercholesterolemia, familial, 1 10.3
41 coronary thrombosis 10.3
42 heparin-induced thrombocytopenia 10.3
43 refractory anemia 10.3
44 portal hypertension 10.3
45 splenic infarction 10.3
46 myeloid sarcoma 10.3
47 intermediate coronary syndrome 10.3
48 pulmonary embolism 10.3
49 atrial standstill 1 10.2
50 leukemia, acute lymphoblastic 10.2

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



Diseases related to Thrombocythemia 1
Sources

Symptoms & Phenotypes for Thrombocythemia 1

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Human phenotypes related to Thrombocythemia 1:

31
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 thrombocytosis 31 very rare (1%) HP:0001894
3 impaired adp-induced platelet aggregation 31 very rare (1%) HP:0004866
4 impaired epinephrine-induced platelet aggregation 31 very rare (1%) HP:0008148
5 impaired collagen-induced platelet aggregation 31 very rare (1%) HP:0008320

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Vascular:
thrombotic episodes
hemorrhagic episodes

Laboratory Abnormalities:
increased serum thrombopoietin may occur

Hematology:
thrombocythemia
increased bone marrow megakaryocytes

Clinical features from OMIM®:

187950 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Thrombocythemia 1

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

(show top 50) (show all 218)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anagrelide Approved Phase 4 68475-42-3 2182
2
Hydroxyurea Approved Phase 4 127-07-1 3657
3
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
4
tannic acid Approved Phase 4 1401-55-4
5
Lactitol Approved, Investigational Phase 4 585-86-4 157355
6
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
7
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
8 Fibrinolytic Agents Phase 4
9 Platelet Aggregation Inhibitors Phase 4
10 interferons Phase 4
11 Interferon-alpha Phase 4
12 Interferon alpha-2 Phase 4
13 Histone Deacetylase Inhibitors Phase 4
14
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
15
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
16
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
17
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 468682 2826718
18
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
19
Dalteparin Approved Phase 3 9005-49-6
20
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
21
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
22
Morphine Approved, Investigational Phase 3 57-27-2 5288826
23
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
24
Iron Approved Phase 3 7439-89-6 23925 29936
25
Sodium citrate Approved, Investigational Phase 3 68-04-2
26
Melphalan Approved Phase 3 148-82-3 4053 460612
27
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
28
Danazol Approved Phase 3 17230-88-5 28417
29
Mercaptopurine Approved Phase 3 50-44-2 667490
30
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
31
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
32
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
33 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
34 Anesthetics, Dissociative Phase 3
35 Excitatory Amino Acid Antagonists Phase 3
36 Etoposide phosphate Phase 2, Phase 3
37 Mitogens Phase 3
38 Liver Extracts Phase 3
39 Cola Phase 3
40 Amebicides Phase 3
41 Liposomal amphotericin B Phase 3
42 Heparin, Low-Molecular-Weight Phase 3
43 Respiratory System Agents Phase 3
44 Antitussive Agents Phase 3
45 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
46 Protein Kinase Inhibitors Phase 3
47 Hormones Phase 3
48 Hormone Antagonists Phase 3
49 Citrate Phase 3
50 N-(cyanomethyl)-4-(2-((4-(4-morpholinyl)phenyl)amino)-4-pyrimidinyl)benzamide Phase 3

Interventional clinical trials:

(show top 50) (show all 247)
# Name Status NCT ID Phase Drugs
1 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
2 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
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 Danish Study of Low-dose Interferon Alpha Versus Hydroxyurea in the Treatment of Philadelphia Chromosome Negative (Ph-)Chronic Myeloid Neoplasms. Unknown status NCT01387763 Phase 3 PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
8 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
9 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
10 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
11 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
12 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
13 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
14 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
15 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
16 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
17 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
18 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
19 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
20 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
21 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)
22 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
23 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
24 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
25 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)
26 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
27 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
28 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
29 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)
30 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
31 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
32 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 Recruiting NCT04285086 Phase 3
33 French Aspirin Study in Essential Thrombocythemia: an Open and Randomized Study Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
34 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)
35 A Phase 3b, Multicenter, Single-Arm, Open-Label Efficacy and Safety Study of Fedratinib 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 Including a Sub-study With Concomitant Luspatercept for Subjects With Anemia Recruiting NCT03755518 Phase 3 FEDRATINIB;Luspatercept
36 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
37 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
38 A Phase 2/3 Randomized, Controlled, Open-Label Study of KRT 232 in Subjects With Primary Myelofibrosis (PMF), Post Polycythemia Vera MF (Post-PV-MF), Or Post Essential Thrombocythemia MF (Post-ET-MF) Who Are Relapsed or Refractory to Janus Kinase (JAK) Inhibitor Treatment Recruiting NCT03662126 Phase 2, Phase 3 KRT-232;Best Available Therapy (BAT)
39 A Phase 3, Randomized, Double-blind, Active-Control Study of CPI-0610 and Ruxolitinib vs. Placebo and Ruxolitinib in JAKi Treatment Naive MF Patients Recruiting NCT04603495 Phase 3 CPI-0610;Ruxolitinib;Placebo
40 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of the Combination of PI3Kδ Inhibitor Parsaclisib and Ruxolitinib in Participants With Myelofibrosis Recruiting NCT04551066 Phase 3 parsaclisib;ruxolitinib;placebo
41 A Randomized, Double-Blind, Placebo-Controlled Study of the PI3Kδ Inhibitor Parsaclisib Plus Ruxolitinib in Participants With Myelofibrosis Who Have Suboptimal Response to Ruxolitinib Recruiting NCT04551053 Phase 3 parsaclisib;ruxolitinib;placebo
42 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
43 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
44 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
45 A Phase II Trial of Allogeneic Peripheral Blood Stem Cell Transplantation From Matched Unrelated Donors in Patients With Advanced Hematologic Malignancies and Hematological Disorders Unknown status NCT00544115 Phase 2 busulfan;cyclophosphamide;cyclosporine;etoposide;fludarabine phosphate;melphalan;methotrexate;mycophenolate mofetil;sirolimus;tacrolimus
46 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
47 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)
48 A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia. Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
49 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
50 Allogeneic Hematopoietic Cell Transplantation for Patients With Hematologic Disorders Who Are Undergoing Dose-Adjusted Treatment With A Maximally Intensive Busulfex-Based Therapeutic Regimen Completed NCT00448357 Phase 1, Phase 2 busulfan;fludarabine phosphate;tacrolimus;methotrexate

Search NIH Clinical Center for Thrombocythemia 1

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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

About this section

Genetic tests related to Thrombocythemia 1:

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

Anatomical Context for Thrombocythemia 1

About this section

MalaCards organs/tissues related to Thrombocythemia 1:

40
Myeloid, Bone, Bone Marrow, Liver, T Cells, Spleen
Sources

Publications for Thrombocythemia 1

About this section

Articles related to Thrombocythemia 1:

(show all 43)
# Title Authors PMID Year
1
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 6 57
24325359 2013
2
Somatic mutations of calreticulin in myeloproliferative neoplasms. 57 6
24325356 2013
3
Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene. 57 6
10583217 1999
4
An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. 6 57
9425899 1998
5
Familial thrombocytosis. 6 57
7772529 1995
6
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. 6
29590070 2018
7
The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders. 6
28484264 2017
8
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 6
27651169 2016
9
Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. 6
20404132 2010
10
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 6
19553636 2009
11
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. 57
19036112 2009
12
Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways. 6
15705783 2005
13
Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family. 57
11260062 2001
14
Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene. 6
9694695 1998
15
Benign familial microcytic thrombocytosis with autosomal dominant transmission. 57
9272712 1997
16
Familial thrombocytosis in infancy presenting with a leukaemoid reaction. 57
8888933 1996
17
Familial essential thrombocythemia: clinical characteristics of 11 cases in one family. 57
8167182 1994
18
Familial essential thrombocythemia. 57
2268537 1990
19
Sideroblastic anemia associated with thrombocytosis and a chromosome 3 abnormality. 57
3458520 1986
20
Familial essential thrombocythemia. 57
3953624 1986
21
Chromosomal abnormalities in essential thrombocythemia. 57
4040804 1985
22
Absence of a specific chromosomal marker in essential thrombocythemia. 57
6722757 1984
23
Philadelphia chromosome-positive thrombocythemia with leukemic transformation. 57
6574316 1983
24
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. 57
7104489 1982
25
Ph1 -positive CML associated with megakaryocytic hyperplasia and thrombocythemia and an abnormality of chromosome no. 3. 57
6955003 1982
26
Rearrangement of chromosome no. 3 in a case of preleukemia with thrombocytosis. 57
7066881 1982
27
Familial myeloproliferative disease. Hematological and cytogenetic studies. 57
7315532 1981
28
The occurrence of the philadelphia chromosome in essential thrombocytosis. 57
6940825 1981
29
Primary thrombocythaemia in monozygotic twins. 57
7388565 1980
30
A chromosomal abnormality (21q-) in primary thrombocytosis. 57
468256 1979
31
Platelet function in essential thrombocythemia. Decreased epinephrine responsiveness associated with a deficiency of platelet alpha-adrenergic receptors. 57
210377 1978
32
A chromosomal abnormality in primary thrombocythemia. 57
652012 1978
33
Thrombocythaemia. Familial occurrence and transition into blastic crisis. 57
4365053 1974
34
Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea. 61
32067437 2020
35
[Prognosis and Survival Analysis of Patients with Essential Thrombocythemia]. 61
28446303 2017
36
Does an elevated serum vitamin B(12) level mask actual vitamin B(12) deficiency in myeloproliferative disorders? 61
22424943 2012
37
Blood tests may predict early primary myelofibrosis in patients presenting with essential thrombocythemia. 61
22237692 2012
38
The role of Janus Kinase 2 V617F mutation in extramedullary hematopoiesis of the spleen in neoplastic myeloid disorders. 61
17643100 2007
39
Management of essential thrombocythemia: implications of the medical research council primary thrombocythemia 1 trial. 61
16673283 2006
40
Analysis of loss of heterozygosity and X chromosome inactivation in spleens with myeloproliferative disorders and acute myeloid leukemia. 61
16118625 2005
41
Increased thromboxane biosynthesis in essential thrombocythemia. 61
8607099 1995
42
Molecular mechanisms of tumor progression in chronic myeloproliferative disorders. 61
8152300 1994
43
Endogenous megakaryocyte colonies from peripheral blood in precursor cell cultures of patients with myeloproliferative disorders. 61
2656291 1989
Sources

Variations for Thrombocythemia 1

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ClinVar genetic disease variations for Thrombocythemia 1:

6 (show top 50) (show all 172)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 THPO THPO, IVS3, G-C, +1 SNV Pathogenic 9508
2 THPO THPO, 1-BP DEL, 3252G Deletion Pathogenic 9509
3 THPO THPO, 516G-T SNV Pathogenic 9510
4 CUX2 NM_005475.2(SH2B3):c.622G>C (p.Glu208Gln) SNV Pathogenic 30445 rs202080221 12:111856571-111856571 12:111418767-111418767
5 CALR NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) Deletion Pathogenic 97006 rs1555760738 19:13054565-13054616 19:12943751-12943802
6 MPL NM_005373.2(MPL):c.413del (p.Ile138fs) Deletion Pathogenic 528088 rs1343123940 1:43804963-43804963 1:43339292-43339292
7 MPL NM_005373.2(MPL):c.1462G>T (p.Glu488Ter) SNV Pathogenic 656664 rs1302209849 1:43814667-43814667 1:43348996-43348996
8 MPL NM_005373.2(MPL):c.317C>T (p.Pro106Leu) SNV Pathogenic 265248 rs750046020 1:43804317-43804317 1:43338646-43338646
9 MPL NM_005373.2(MPL):c.1194G>A (p.Trp398Ter) SNV Pathogenic 660831 rs1570470199 1:43812491-43812491 1:43346820-43346820
10 MPL NM_005373.2(MPL):c.1069C>T (p.Arg357Ter) SNV Pathogenic 660904 rs751975712 1:43812204-43812204 1:43346533-43346533
11 MPL NC_000001.11:g.(?_43349253)_(43349369_?)del Deletion Pathogenic 665044 1:43814924-43815040 1:43349253-43349369
12 SH2B3 NM_001291424.1(SH2B3):c.577G>A (p.Glu193Lys) SNV Pathogenic 619973 rs148636776 12:111885295-111885295 12:111447491-111447491
13 MPL NM_005373.2(MPL):c.304C>T (p.Arg102Cys) SNV Pathogenic 644406 rs763568293 1:43804304-43804304 1:43338633-43338633
14 MPL NM_005373.2(MPL):c.769C>T (p.Arg257Cys) SNV Pathogenic 14156 rs121913611 1:43805713-43805713 1:43340042-43340042
15 MPL NM_005373.3(MPL):c.793del (p.Leu265fs) Deletion Pathogenic 839594 1:43805735-43805735 1:43340064-43340064
16 MPL NM_005373.2(MPL):c.391+5G>C SNV Pathogenic 372409 rs752453717 1:43804396-43804396 1:43338725-43338725
17 MPL NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs) Duplication Pathogenic 834305 1:43814938-43814939 1:43349267-43349268
18 MPL NM_005373.2(MPL):c.1422G>A (p.Trp474Ter) SNV Pathogenic 631606 rs754859909 1:43814627-43814627 1:43348956-43348956
19 MPL NM_005373.3(MPL):c.1247G>A (p.Trp416Ter) SNV Pathogenic 855899 1:43812544-43812544 1:43346873-43346873
20 THPO NM_000460.4(THPO):c.-47del Deletion Pathogenic 872935
21 MPL NM_005373.3(MPL):c.455del (p.Ile152fs) Deletion Pathogenic 943961 1:43805005-43805005 1:43339334-43339334
22 MPL NM_005373.3(MPL):c.1348G>T (p.Glu450Ter) SNV Pathogenic 947960 1:43814553-43814553 1:43348882-43348882
23 MPL NM_005373.3(MPL):c.1270C>T (p.Gln424Ter) SNV Pathogenic 948825 1:43812567-43812567 1:43346896-43346896
24 MPL NM_005373.3(MPL):c.268C>T (p.Arg90Ter) SNV Pathogenic 956954 1:43804268-43804268 1:43338597-43338597
25 MPL NM_005373.2(MPL):c.127C>T (p.Arg43Ter) SNV Pathogenic 371574 rs148434485 1:43803817-43803817 1:43338146-43338146
26 MPL NM_005373.2(MPL):c.305G>C (p.Arg102Pro) SNV Pathogenic 14158 rs28928907 1:43804305-43804305 1:43338634-43338634
27 MPL NM_005373.2(MPL):c.235_236del (p.Leu79fs) Deletion Pathogenic 134822 rs587778514 1:43804235-43804236 1:43338564-43338565
28 MPL NM_005373.2(MPL):c.378del (p.Phe126fs) Deletion Pathogenic 265249 rs587778515 1:43804376-43804376 1:43338705-43338705
29 MPL NM_005373.3(MPL):c.79+2T>A SNV Likely pathogenic 135563 rs146249964 1:43803600-43803600 1:43337929-43337929
30 THPO NM_000460.4(THPO):c.13+2T>C SNV Likely pathogenic 975832 3:184094033-184094033 3:184376245-184376245
31 MPL NM_005373.3(MPL):c.1165+1G>C SNV Likely pathogenic 834439 1:43812301-43812301 1:43346630-43346630
32 MPL NM_005373.2(MPL):c.311T>C (p.Phe104Ser) SNV Likely pathogenic 653595 rs1196161699 1:43804311-43804311 1:43338640-43338640
33 MPL NM_005373.2(MPL):c.981-1G>C SNV Likely pathogenic 665962 rs769297582 1:43812115-43812115 1:43346444-43346444
34 GSKIP NC_000014.8:g.96163103_96857129dup Duplication Likely pathogenic 208237 14:96163103-96857129 14:95696766-96390792
35 GSKIP NC_000014.8:g.96163103_96857129dup Duplication Likely pathogenic 208237 14:96163103-96857129 14:95696766-96390792
36 MPL NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) SNV Likely pathogenic 14163 rs121913614 1:43814979-43814979 1:43349308-43349308
37 MPL NM_005373.2(MPL):c.173C>T (p.Ala58Val) SNV Uncertain significance 412015 rs6087 1:43803863-43803863 1:43338192-43338192
38 MPL NM_005373.2(MPL):c.212G>A (p.Arg71Gln) SNV Uncertain significance 458371 rs368753117 1:43803902-43803902 1:43338231-43338231
39 MPL NM_005373.2(MPL):c.1744_1745del (p.Leu582fs) Deletion Uncertain significance 458369 rs770402221 1:43818279-43818280 1:43352608-43352609
40 MPL NM_005373.2(MPL):c.*657C>T SNV Uncertain significance 297417 rs886046352 1:43819100-43819100 1:43353429-43353429
41 MPL NM_005373.2(MPL):c.*701_*705dup Duplication Uncertain significance 297419 rs752218261 1:43819118-43819119 1:43353447-43353448
42 THPO NM_000460.4(THPO):c.-56G>A SNV Uncertain significance 344374 rs187556243 3:184094103-184094103 3:184376315-184376315
43 THPO NM_000460.4(THPO):c.517G>A (p.Val173Ile) SNV Uncertain significance 344372 rs780992873 3:184090846-184090846 3:184373058-184373058
44 MPL NM_005373.2(MPL):c.*705del Deletion Uncertain significance 297420 rs752218261 1:43819119-43819119 1:43353448-43353448
45 THPO NM_000460.4(THPO):c.303A>G (p.Gln101=) SNV Uncertain significance 344373 rs775232517 3:184091296-184091296 3:184373508-184373508
46 MPL NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) SNV Uncertain significance 297403 rs201998783 1:43812186-43812186 1:43346515-43346515
47 MPL NM_005373.2(MPL):c.*924C>G SNV Uncertain significance 297425 rs886046354 1:43819367-43819367 1:43353696-43353696
48 THPO NM_000460.4(THPO):c.*404G>A SNV Uncertain significance 344367 rs573846929 3:184089897-184089897 3:184372109-184372109
49 MPL NM_005373.2(MPL):c.*1351T>C SNV Uncertain significance 297433 rs886046357 1:43819794-43819794 1:43354123-43354123
50 MPL NM_005373.2(MPL):c.1238C>T (p.Pro413Leu) SNV Uncertain significance 297404 rs886046350 1:43812535-43812535 1:43346864-43346864
Sources

Expression for Thrombocythemia 1

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Search GEO for disease gene expression data for Thrombocythemia 1.
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Pathways for Thrombocythemia 1

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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
 10.95 THPO MPL
3
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
10.86 THPO SH2B3 MPL
Sources

GO Terms for Thrombocythemia 1

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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

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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