MCID: THR086
MIFTS: 28

Thrombocythemia 3

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

Aliases & Classifications for Thrombocythemia 3

MalaCards integrated aliases for Thrombocythemia 3:

Name: Thrombocythemia 3 54 24 71 29 13 69
Thrombocytosis 3 24 71
Thcyt3 71

Characteristics:

OMIM:

54
Miscellaneous:
increased risk of myeloproliferative disorders in those with somatic mutations
germline or somatic mutations may cause the disorder

Inheritance:
somatic mutation
autosomal dominant


HPO:

32
thrombocythemia 3:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

OMIM 54 614521
MedGen 40 C3281125
MeSH 42 D013920

Summaries for Thrombocythemia 3

OMIM : 54
Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012). For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950). (614521)

MalaCards based summary : Thrombocythemia 3, is also known as thrombocytosis 3, and has symptoms including thrombocytosis An important gene associated with Thrombocythemia 3 is JAK2 (Janus Kinase 2). The drugs Anagrelide and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid.

UniProtKB/Swiss-Prot : 71 Thrombocythemia 3: 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 3

Symptoms & Phenotypes for Thrombocythemia 3

Symptoms via clinical synopsis from OMIM:

54

Hematology:
increased megakaryocytes in bone marrow
thrombocythemia

Cardiovascular- Heart:
myocardial infarction, increased risk of


Clinical features from OMIM:

614521

Human phenotypes related to Thrombocythemia 3:

32
id Description HPO Frequency HPO Source Accession
1 thrombocytosis 32 HP:0001894

Drugs & Therapeutics for Thrombocythemia 3

Drugs for Thrombocythemia 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 227)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anagrelide Approved Phase 4,Phase 3,Phase 2 68475-42-3 2182
2
Hydroxyurea Approved Phase 4,Phase 3,Phase 2 127-07-1 3657
3 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
4 Fibrinolytic Agents Phase 4,Phase 3,Phase 2
5 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2
6
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
7
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
8
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1 50-18-0, 6055-19-2 2907
9
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
10
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
11
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
12
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
13
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 1,Phase 2 22916-47-8 4189
14
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
15
Dalteparin Approved Phase 3 9005-49-6
16
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
17
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
18
Guaifenesin Approved, Vet_approved Phase 3 93-14-1 3516
19
Morphine Approved, Investigational Phase 3 57-27-2 5288826
20
Ondansetron Approved Phase 3 99614-02-5 4595
21
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
22
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
23 Pomalidomide Approved Phase 3,Phase 2 19171-19-8
24
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
25 Thiotepa Approved Phase 2, Phase 3 52-24-4 5453
26
Cytarabine Approved, Investigational Phase 3,Phase 1 147-94-4 6253
27
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
28
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 498142 38904
29
Melphalan Approved Phase 2, Phase 3 148-82-3 4053 460612
30
Danazol Approved Phase 3 17230-88-5 28417
31 tannic acid Approved, Nutraceutical Phase 3
32
Ginseng Approved, Nutraceutical Phase 3 50647-08-0
33 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
34
Lactitol Investigational Phase 2, Phase 3 585-86-4 3871
35 Analgesics Phase 3,Phase 2
36 Anesthetics Phase 3
37 Anesthetics, Dissociative Phase 3
38 Anesthetics, General Phase 3
39 Anesthetics, Intravenous Phase 3
40 Central Nervous System Depressants Phase 3,Phase 1,Phase 2
41 Excitatory Amino Acid Antagonists Phase 3
42 Excitatory Amino Acids Phase 3
43 Neurotransmitter Agents Phase 3,Phase 2
44 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
45 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
46 Dermatologic Agents Phase 3,Phase 2,Phase 1
47 Antirheumatic Agents Phase 3,Phase 2,Phase 1
48 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
49 Alkylating Agents Phase 2, Phase 3,Phase 1
50 Antilymphocyte Serum Phase 2, Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 130)

id Name Status NCT ID Phase Drugs
1 A Study of Anagrelide and Hydroxyurea in High-Risk Essential Thrombocythemia Patients Completed NCT00202644 Phase 4 Anagrelide;Hydroxyurea
2 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
3 Effect of SPD422 on Platelet Lowering and Safety in Japanese Adults With At Risk Essential Thrombocythaemia Completed NCT01214915 Phase 3 Anagrelide Hydrochloride
4 Anagrelide Retard vs. Placebo: Efficacy and Safety in "At-risk" Patients With Essential Thrombocythaemia Completed NCT01230775 Phase 3 Anagrelide retard;Placebo
5 Long-term Safety of SPD422 in Japanese Adults With Essential Thrombocythaemia Completed NCT01467661 Phase 3 SPD422 (anagrelide hydrochloride)
6 Anagrelide Retard in Essential Thrombocythemia Completed NCT02076815 Phase 3 Anagrelide retard;Thromboreductin
7 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3 SAR302503;Placebo
8 Anagrelide vs. Hydroxyurea - Efficacy and Tolerability Study in Patients With Essential Thrombocythaemia Completed NCT01065038 Phase 3 Anagrelide;Hydroxyurea
9 A Clinical Study of Ruxolitinib in Patients With Primary Myelofibrosis (PM), Post-polycythemia Vera (PV) Myelofibrosis, or Post-essential Thrombocythemia (ET) Myelofibrosis Completed NCT02087059 Phase 3 Ruxolitinib
10 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
11 Controlled Myelofibrosis Study With Oral Janus-associated Kinase (JAK) Inhibitor Treatment-II: The COMFORT-II Trial Completed NCT00934544 Phase 3 INC424/INCB018424;Best Available Therapy (BAT)
12 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
13 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
14 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
15 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
16 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
17 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
18 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
19 Dalteparin to Prevent Complications in Cancer Patients Receiving Chemotherapy Through a Catheter Completed NCT00006083 Phase 3 Fragmin
20 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
21 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
22 The Ruxo-BEAT Trial in Patients With High-risk Polycythemia Vera or High-risk Essential Thrombocythemia Recruiting NCT02577926 Phase 3 Ruxolitinib;BAT
23 Hydroxyurea Versus Aspirin and Hydroxyurea in Essential Thrombocythemia Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
24 The Ruxolitinib Versus Best Available Therapy Trial in Patients With High Risk ET in Second Line Recruiting NCT02962388 Phase 2, Phase 3 Anagrelide;Ruxolitinib (JAKAVI®);IFNα/ PegIFNα
25 Efficacy of Momelotinib Versus Best Available Therapy in Anemic or Thrombocytopenic Subjects With Primary Myelofibrosis (MF), Post-polycythemia Vera MF, or Post-essential Thrombocythemia MF Active, not recruiting NCT02101268 Phase 3 Momelotinib;Best Available Therapy (BAT)
26 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
27 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Active, not recruiting NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
28 Phase-3 Double-Blind, Placebo-Controlled Study of Pomalidomide in Persons With Myeloproliferative-Neoplasm-Associated Myelofibrosis and RBC-Transfusion-Dependence Myelofibrosis and RBC-Transfusion-Dependence Active, not recruiting NCT01178281 Phase 3 Pomalidomide 0.5 mg;Placebo
29 A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms Active, not recruiting NCT01387763 Phase 3 PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
30 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
31 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
32 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
33 A Study of the Efficacy of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
34 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2 PEGASYS;Aspirin
35 Study With SAR302503 in Patients With Polycythemia Vera or Essential Thrombocythemia Completed NCT01420783 Phase 2 SAR302503
36 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2 Imetelstat
37 3-AP and Fludarabine in Treating Patients With Myeloproliferative Disorders, Chronic Myelomonocytic Leukemia, or Accelerated Phase or Blastic Phase Chronic Myelogenous Leukemia Completed NCT00381550 Phase 2 fludarabine phosphate;triapine
38 Study of SB939 in Subjects With Myelofibrosis Completed NCT01200498 Phase 2 SB939
39 Phase 2 Study of SAR302503 in Patients With Myelofibrosis Completed NCT01420770 Phase 2 SAR302503
40 Alternative Dosing Strategy of Ruxolitinib in Patients With Myelofibrosis Completed NCT01445769 Phase 2 Ruxolitinib
41 Phase II, Open Label, Single Arm Study of SAR302503 In Myelofibrosis Patients Previously Treated With Ruxolitinib Completed NCT01523171 Phase 2 SAR302503
42 Safety Study Evaluating Twice-Daily Administration of Momelotinib in Primary Myelofibrosis or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis Completed NCT01423058 Phase 1, Phase 2 Momelotinib
43 Sympathicomimetic Agonist in Patients With Myeloproliferative Neoplasms With JAK2-mutation Completed NCT02311569 Phase 2 Mirabegron
44 Lenalidomide and Prednisone in Treating Patients With Myelofibrosis Completed NCT00227591 Phase 2 lenalidomide;prednisone
45 Thalidomide, Prednisone, and Cyclophosphamide in Treating Patients With Myelofibrosis and Myeloid Metaplasia Completed NCT00445900 Phase 2 cyclophosphamide;prednisone;thalidomide
46 Pomalidomide in Patients With Myeloproliferative Neoplasms in Fibrotic Stage Completed NCT00949364 Phase 2 Pomalidomide
47 Non-Ablative Allo HSCT For Hematologic Malignancies or SAA Completed NCT00006379 Phase 2 cyclophosphamide;fludarabine phosphate
48 Donor Natural Killer Cells After Donor Stem Cell Transplant in Treating Patients With Advanced Cancer Completed NCT00823524 Phase 1, Phase 2
49 Beclomethasone Dipropionate in Preventing Acute Graft-Versus-Host Disease in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00489203 Phase 2 beclomethasone dipropionate;placebo;tacrolimus;methotrexate
50 Fludarabine, Cyclophosphamide, and Total-Body Irradiation in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Hematologic Cancer Completed NCT00134004 Phase 2 cyclophosphamide;fludarabine phosphate;mycophenolate mofetil;tacrolimus

Search NIH Clinical Center for Thrombocythemia 3

Genetic Tests for Thrombocythemia 3

Genetic tests related to Thrombocythemia 3:

id Genetic test Affiliating Genes
1 Thrombocythemia 3 29 24 JAK2

Anatomical Context for Thrombocythemia 3

MalaCards organs/tissues related to Thrombocythemia 3:

39
Bone, Bone Marrow, Myeloid, Liver, Testes, Kidney, Colon

Publications for Thrombocythemia 3

Variations for Thrombocythemia 3

UniProtKB/Swiss-Prot genetic disease variations for Thrombocythemia 3:

71
id Symbol AA change Variation ID SNP ID
1 JAK2 p.Val617Phe VAR_032697 rs77375493
2 JAK2 p.Val617Ile VAR_067534 rs77375493

ClinVar genetic disease variations for Thrombocythemia 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs77375493 GRCh37 Chromosome 9, 5073770: 5073770
2 JAK2 NM_004972.3(JAK2): c.1849G> A (p.Val617Ile) single nucleotide variant Pathogenic rs77375493 GRCh37 Chromosome 9, 5073770: 5073770

Expression for Thrombocythemia 3

Search GEO for disease gene expression data for Thrombocythemia 3.

Pathways for Thrombocythemia 3

GO Terms for Thrombocythemia 3

Sources for Thrombocythemia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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