THCYT1
MCID: THR090
MIFTS: 49

Thrombocythemia 1 (THCYT1)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare diseases

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:



External Ids:

OMIM 56 187950
OMIM Phenotypic Series 56 PS187950
MeSH 43 D013920
UMLS 71 C0040028 C3277671

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.

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:



Diseases related to Thrombocythemia 1

Symptoms & Phenotypes for Thrombocythemia 1

Human phenotypes related to Thrombocythemia 1:

31 (show all 7)
# Description HPO Frequency 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

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
1
Anagrelide Approved Phase 4 68475-42-3 2182
2
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
4
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
5
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
6 Histone Deacetylase Inhibitors Phase 4
7
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
8
Pomalidomide Approved Phase 3 19171-19-8
9
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
10
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
11
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
12
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
13
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
14
Dalteparin Approved Phase 3 9005-49-6
15
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
16
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
18
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 2826718 468682
19
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
20
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
21
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
22
Mercaptopurine Approved Phase 3 50-44-2 667490
23
Danazol Approved Phase 3 17230-88-5 28417
24
Melphalan Approved Phase 3 148-82-3 460612 4053
25
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
26
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
27
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
28 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
29 Anesthetics, Dissociative Phase 3
30 Fibrinolytic Agents Phase 3
31 Platelet Aggregation Inhibitors Phase 3
32 Anti-Infective Agents Phase 3
33 Androgens Phase 3
34 Analgesics Phase 3
35 Hormones Phase 3
36 Angiogenesis Inhibitors Phase 3
37 Anti-Bacterial Agents Phase 3
38 Neurotransmitter Agents Phase 3
39 Antifungal Agents Phase 3
40 Liver Extracts Phase 3
41 Etoposide phosphate Phase 2, Phase 3
42 Cola Phase 3
43 Analgesics, Opioid Phase 3
44 Psychotropic Drugs Phase 3
45 Anti-Anxiety Agents Phase 3
46 Antipsychotic Agents Phase 3
47 Antiprotozoal Agents Phase 3
48 Antiparasitic Agents Phase 3
49 Heparin, Low-Molecular-Weight Phase 3
50 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

Genetic Tests for Thrombocythemia 1

Genetic tests related to Thrombocythemia 1:

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

Anatomical Context for Thrombocythemia 1

MalaCards organs/tissues related to Thrombocythemia 1:

40
Myeloid, Bone, Bone Marrow, T Cells, Testes, Liver, Lung

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
24325356 2013
2
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 6 56
24325359 2013
3
Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene. 6 56
10583217 1999
4
An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. 56 6
9425899 1998
5
Familial thrombocytosis. 6 56
7772529 1995
6
Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. 6
20404132 2010
7
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 6
19553636 2009
8
Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene. 6
9694695 1998
9
Benign familial microcytic thrombocytosis with autosomal dominant transmission. 56
9272712 1997
10
Familial thrombocytosis in infancy presenting with a leukaemoid reaction. 56
8888933 1996
11
Familial essential thrombocythemia: clinical characteristics of 11 cases in one family. 56
8167182 1994
12
Familial essential thrombocythemia. 56
2268537 1990
13
Sideroblastic anemia associated with thrombocytosis and a chromosome 3 abnormality. 56
3458520 1986
14
Familial essential thrombocythemia. 56
3953624 1986
15
Chromosomal abnormalities in essential thrombocythemia. 56
4040804 1985
16
Absence of a specific chromosomal marker in essential thrombocythemia. 56
6722757 1984
17
Philadelphia chromosome-positive thrombocythemia with leukemic transformation. 56
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
7104489 1982
19
Ph1 -positive CML associated with megakaryocytic hyperplasia and thrombocythemia and an abnormality of chromosome no. 3. 56
6955003 1982
20
Rearrangement of chromosome no. 3 in a case of preleukemia with thrombocytosis. 56
7066881 1982
21
The occurrence of the philadelphia chromosome in essential thrombocytosis. 56
6940825 1981
22
Familial myeloproliferative disease. Hematological and cytogenetic studies. 56
7315532 1981
23
Primary thrombocythaemia in monozygotic twins. 56
7388565 1980
24
A chromosomal abnormality (21q-) in primary thrombocytosis. 56
468256 1979
25
Platelet function in essential thrombocythemia. Decreased epinephrine responsiveness associated with a deficiency of platelet alpha-adrenergic receptors. 56
210377 1978
26
A chromosomal abnormality in primary thrombocythemia. 56
652012 1978
27
Thrombocythaemia. Familial occurrence and transition into blastic crisis. 56
4365053 1974
28
Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea. 61
32067437 2020
29
[Prognosis and Survival Analysis of Patients with Essential Thrombocythemia]. 61
28446303 2017
30
Does an elevated serum vitamin B(12) level mask actual vitamin B(12) deficiency in myeloproliferative disorders? 61
22424943 2012
31
Blood tests may predict early primary myelofibrosis in patients presenting with essential thrombocythemia. 61
22237692 2012
32
The role of Janus Kinase 2 V617F mutation in extramedullary hematopoiesis of the spleen in neoplastic myeloid disorders. 61
17643100 2007
33
Management of essential thrombocythemia: implications of the medical research council primary thrombocythemia 1 trial. 61
16673283 2006
34
Analysis of loss of heterozygosity and X chromosome inactivation in spleens with myeloproliferative disorders and acute myeloid leukemia. 61
16118625 2005
35
Increased thromboxane biosynthesis in essential thrombocythemia. 61
8607099 1995
36
Molecular mechanisms of tumor progression in chronic myeloproliferative disorders. 61
8152300 1994
37
Endogenous megakaryocyte colonies from peripheral blood in precursor cell cultures of patients with myeloproliferative disorders. 61
2656291 1989

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.-47deldeletion 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, +1SNV Pathogenic 9508
4 THPO THPO, 1-BP DEL, 3252Gdeletion Pathogenic 9509
5 THPO THPO, 516G-TSNV 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_96857129dupduplication 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>TSNV 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>ASNV Conflicting interpretations of pathogenicity 286872 rs180680111 3:184090283-184090283 3:184372495-184372495
14 MPL NM_005373.2(MPL):c.854-3T>CSNV 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>TSNV Conflicting interpretations of pathogenicity 297438 rs536844021 1:43820117-43820117 1:43354446-43354446
17 MPL NM_005373.2(MPL):c.690+11C>TSNV 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>TSNV Conflicting interpretations of pathogenicity 297415 rs558390922 1:43818843-43818843 1:43353172-43353172
21 MPL NM_005373.2(MPL):c.*701_*705dupduplication Uncertain significance 297419 rs752218261 1:43819118-43819119 1:43353447-43353448
22 MPL NM_005373.2(MPL):c.*882C>TSNV Uncertain significance 297424 rs777894453 1:43819325-43819325 1:43353654-43353654
23 MPL NM_005373.2(MPL):c.*86C>TSNV Uncertain significance 297412 rs777930147 1:43818529-43818529 1:43352858-43352858
24 MPL NM_005373.2(MPL):c.*657C>TSNV 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>ASNV Uncertain significance 297423 rs540648773 1:43819314-43819314 1:43353643-43353643
28 MPL NM_005373.2(MPL):c.*1216A>GSNV Uncertain significance 297432 rs886046356 1:43819659-43819659 1:43353988-43353988
29 MPL NM_005373.2(MPL):c.*1351T>CSNV 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>ASNV Uncertain significance 344374 rs187556243 3:184094103-184094103 3:184376315-184376315
35 THPO NM_000460.4(THPO):c.-123C>TSNV Uncertain significance 344375 rs535707667 3:184094170-184094170 3:184376382-184376382
36 THPO NM_000460.4(THPO):c.-215T>ASNV Uncertain significance 344377 rs886058219 3:184095932-184095932 3:184378144-184378144
37 THPO NM_000460.4(THPO):c.*500A>GSNV Uncertain significance 344365 rs886058217 3:184089801-184089801 3:184372013-184372013
38 THPO NM_000460.4(THPO):c.*404G>ASNV Uncertain significance 344367 rs573846929 3:184089897-184089897 3:184372109-184372109
39 MPL NM_005373.2(MPL):c.*1506G>CSNV 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

Expression for Thrombocythemia 1

Search GEO for disease gene expression data for Thrombocythemia 1.

Pathways for Thrombocythemia 1

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

# Super pathways Score Top Affiliating Genes
1 11.13 THPO MPL
2
Show member pathways
10.95 THPO MPL
3 10.86 THPO SH2B3 MPL

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 for Thrombocythemia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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