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MCID: PLY018
MIFTS: 56

Polycythemia

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Polycythemia

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MalaCards integrated aliases for Polycythemia:

Name: Polycythemia 12 58 29 54 6 43 15 17 71
Polycythemia Vera 71
Erythrocythemia 12

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:8432
MeSH 43 D011086
NCIt 49 C26863
ICD10 32 D75.1
MESH via Orphanet 44 D011086
UMLS via Orphanet 72 C0032461
Orphanet 58 ORPHA98427
UMLS 71 C0032461 C0032463
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Summaries for Polycythemia

About this section
Disease Ontology : 12 A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.

MalaCards based summary : Polycythemia, also known as polycythemia vera, is related to acquired polycythemia and autosomal dominant secondary polycythemia. An important gene associated with Polycythemia is JAK2 (Janus Kinase 2), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Acetazolamide and Panobinostat have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Polycythemia (also known as polycythaemia or polyglobulia) is a disease state in which the hematocrit... more...

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Related Diseases for Polycythemia

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Diseases in the Polycythemia family:

Primary Polycythemia Acquired Polycythemia
Polycythemia Due to Hypoxia Autosomal Dominant Secondary Polycythemia
Acquired Secondary Polycythemia Congenital Secondary Polycythemia

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

(show top 50) (show all 707)
# Related Disease Score Top Affiliating Genes
1 acquired polycythemia 34.0 MPL JAK2 EPOR EPO EGLN1
2 autosomal dominant secondary polycythemia 33.9 EPO EGLN1
3 primary polycythemia 33.7 VHL JAK2 IL3 HIF1A EPOR EPO
4 erythrocytosis, familial, 2, autosomal recessive 33.6 VHL HIF1A EPOR EPO EGLN1
5 plethora of newborn 33.2 EPO EGLN1
6 erythrocytosis, familial, 1 33.2 VHL STAT5A SH2B3 JAK2 IL3 EPOR
7 erythrocytosis, familial, 8 32.8 JAK2 EPOR EGLN1
8 budd-chiari syndrome 32.7 MPL JAK2 F5 CALR
9 hemangioblastoma 32.6 VHL HIF1A EPOR EPO
10 polycythemia vera 32.4 THPO TET2 STAT5A NFE2 MPL KITLG
11 erythrocytosis, familial, 4 32.4 VHL EPOR EGLN1
12 erythrocytosis, familial, 3 32.2 EPOR EGLN1
13 splenomegaly 31.7 MPL JAK2 EPO
14 thrombosis 31.4 MPL JAK2 F5 EPO
15 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 31.3 TFRC IL3 EPOR EPO
16 essential thrombocythemia 31.0 THPO TET2 STAT5A SH2B3 NFE2 MPL
17 myeloproliferative neoplasm 31.0 THPO TET2 STAT5A SH2B3 MPL KITLG
18 erythroleukemia, familial 30.9 NFE2 EPOR EPO
19 deficiency anemia 30.9 THPO TFRC JAK2 HIF1A EPOR EPO
20 chronic neutrophilic leukemia 30.8 TET2 JAK2 CALR
21 paraganglioma 30.8 VHL HIF1A EGLN1
22 acute leukemia 30.8 THPO MPL KITLG JAK2 IL3 EPO
23 pheochromocytoma-paraganglioma 30.7 VHL EGLN1
24 portal vein thrombosis 30.6 MPL JAK2 F5 CALR
25 pheochromocytoma 30.6 VHL HIF1A EPOR EPO EGLN1
26 pancytopenia 30.4 THPO MPL IL3 EPO
27 ischemic colitis 30.4 JAK2 HIF1A F5
28 chronic leukemia 30.4 TET2 STAT5A JAK2
29 refractory anemia 30.3 TET2 MPL IL3 EPO
30 iron deficiency anemia 30.3 THPO TFRC HIF1A EPO
31 hemoglobinuria 30.2 THPO MPL EPO
32 chronic myelomonocytic leukemia 30.1 TET2 STAT5A MPL JAK2 CALR
33 thrombocytosis 30.1 THPO TET2 SH2B3 MPL KITLG JAK2
34 myeloma, multiple 30.1 STAT5A JAK2 JAK1 IL3 HIF1A EPO
35 retinitis pigmentosa and erythrocytic microcytosis 30.1 JAK2 IL3 EPO
36 chronic eosinophilic leukemia 30.0 TET2 STAT5A JAK2
37 systemic mastocytosis 30.0 TET2 STAT5A KITLG JAK2
38 myelophthisic anemia 30.0 SH2B3 MPL JAK2 EPO CALR
39 megakaryocytic leukemia 30.0 THPO KITLG JAK2 IL3 EPOR
40 beta-thalassemia 29.9 TFRC JAK2 IL3 EPOR EPO
41 mastocytosis 29.9 TET2 STAT5A KITLG JAK2 IL3
42 mastocytosis, cutaneous 29.8 TET2 KITLG IL3
43 leukemia, acute lymphoblastic 29.8 THPO MPL KITLG JAK2 JAK1 IL3
44 leukemia, chronic myeloid 29.8 THPO STAT5A MPL KITLG JAK2 IL3
45 myelofibrosis 29.7 THPO TET2 STAT5A SH2B3 NFE2 MPL
46 severe combined immunodeficiency 29.4 STAT5A KITLG JAK1 IL3
47 neutropenia 29.4 THPO TFRC MPL KITLG IL3 EPO
48 aplastic anemia 29.4 THPO TFRC TET2 MPL KITLG IL3
49 blood coagulation disease 29.4 THPO MPL JAK2 IL3 F5 EPO
50 leukemia, acute myeloid 29.1 THPO TFRC TET2 STAT5A MPL KITLG

Graphical network of the top 20 diseases related to Polycythemia:



Diseases related to Polycythemia
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Symptoms & Phenotypes for Polycythemia

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GenomeRNAi Phenotypes related to Polycythemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.66 MPL
2 Decreased viability GR00221-A-1 9.66 VHL
3 Decreased viability GR00221-A-2 9.66 JAK1 JAK2 VHL
4 Decreased viability GR00240-S-1 9.66 MPL TFRC
5 Decreased viability GR00249-S 9.66 F5 JAK1 SLC30A10 VHL
6 Decreased viability GR00301-A 9.66 VHL
7 Decreased viability GR00386-A-1 9.66 CALR CD177 EPO EPOR KITLG THPO
8 Decreased viability GR00402-S-2 9.66 EGLN1 IL3 TFRC THPO

MGI Mouse Phenotypes related to Polycythemia:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 CALR EGLN1 EPO EPOR F5 HIF1A
2 growth/size/body region MP:0005378 10.31 CALR EGLN1 EPOR F5 HIF1A JAK1
3 hematopoietic system MP:0005397 10.31 CD177 EGLN1 EPO EPOR HIF1A JAK1
4 cellular MP:0005384 10.29 CALR EGLN1 EPO EPOR HIF1A JAK2
5 homeostasis/metabolism MP:0005376 10.24 CALR EGLN1 EPO EPOR F5 HIF1A
6 immune system MP:0005387 10.22 CD177 EGLN1 EPO EPOR HIF1A JAK1
7 embryo MP:0005380 10.2 CALR EGLN1 EPO EPOR F5 HIF1A
8 integument MP:0010771 10 EGLN1 EPO F5 HIF1A JAK1 JAK2
9 liver/biliary system MP:0005370 9.97 EGLN1 EPO EPOR F5 HIF1A JAK1
10 mortality/aging MP:0010768 9.86 CALR EGLN1 EPO EPOR F5 HIF1A
11 normal MP:0002873 9.32 EPO EPOR HIF1A JAK1 JAK2 SLC30A10
Sources

Drugs & Therapeutics for Polycythemia

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

(show top 50) (show all 249)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
3
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
4
Methyltestosterone Approved Phase 4 58-18-4 6010
5
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
6
Testosterone enanthate Approved Phase 4 315-37-7 9416
7 Anticonvulsants Phase 4
8 diuretics Phase 4
9 Carbonic Anhydrase Inhibitors Phase 4
10 Histone Deacetylase Inhibitors Phase 4
11 Androgens Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Testosterone 17 beta-cypionate Phase 4
14 Anabolic Agents Phase 4
15
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
16
Pipobroman Approved Phase 3 54-91-1 4842
17
Pomalidomide Approved Phase 3 19171-19-8
18
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
19
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
20
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
21
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
22
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
23
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
24
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
25
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 2826718 468682
26
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
27
Thrombin Approved, Investigational Phase 3
28
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
29
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
30
Hydroxyurea Approved Phase 3 127-07-1 3657
31
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
32
Mercaptopurine Approved Phase 3 50-44-2 667490
33
Danazol Approved Phase 3 17230-88-5 28417
34
Melphalan Approved Phase 3 148-82-3 460612 4053
35
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
36
tannic acid Approved Phase 3 1401-55-4
37
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
38
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
39
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
40 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
41 Anesthetics, Dissociative Phase 3
42 Neurotransmitter Agents Phase 3
43 Analgesics Phase 3
44 Anti-Infective Agents Phase 3
45 Pharmaceutical Solutions Phase 3
46 Anti-Bacterial Agents Phase 3
47 Antifungal Agents Phase 3
48 Liver Extracts Phase 3
49 Etoposide phosphate Phase 2, Phase 3
50 Cola Phase 3

Interventional clinical trials:

(show top 50) (show all 340)
# 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 Hypoventilation and High Altitude Chronic Polycythemia: Acetazolamide as a Possible Treatment Completed NCT00424970 Phase 4 acetazolamide
3 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
4 A Comparison of Side Effects in Hypogonadal Men Treated With Natesto Versus Testosterone Injections: A Phase IV, Prospective, Randomized, Non-Blinded, Multi-Institutional Study Not yet recruiting NCT04439799 Phase 4 Testosterone Cypionate 200 MG/ML;Intranasal Testosterone
5 Glyburide Compared to Insulin in the Management of White's Classification A2 Gestational Diabetes Withdrawn NCT00160485 Phase 4 Glyburide;Insulin
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 An Open-label Trial of an Erythropoietin Stimulating System to Determine Increased Red Blood Cell Production in Subjects Diagnosed With Anemia of Chronic Disease Unknown status NCT01846689 Phase 3 ESS (medical food/drug)
8 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
9 Randomized, Open Label, Multicenter Phase IIIb Study Evaluating the Efficacy and Safety of Ruxolitinib Versus Best Available Therapy in Patients With Polycythemia Vera Who Are Hydroxyurea Resistant or Intolerant (Response 2) Completed NCT02038036 Phase 3 Best Available Therapy;ruxolitinib
10 An Open-label, Multi-center, Expanded Treatment Protocol (ETP) of Ruxolitinib in Patients With Polycythemia Vera Who Are Hydroxyurea Resistant or Intolerant and for Whom no Treatment Alternatives Are Available. Completed NCT02292446 Phase 3 Ruxolitinib
11 Randomized, Open Label, Multicenter Phase III Study of Efficacy and Safety in Polycythemia Vera Subjects Who Are Resistant to or Intolerant of Hydroxyurea: JAK Inhibitor INC424 Tablets Versus Best Available Care (The RESPONSE Trial) Completed NCT01243944 Phase 3 ruxolitinib tablets
12 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)
13 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
14 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)
15 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
16 An Open-label, Single Arm, Phase III Study to Assess the Self-administration of AOP2014 Using a Pre-filled Pen, Developed for the Treatment of Polycythemia Vera Patients Completed NCT02523638 Phase 3 Pegylated-Proline-Interferon alpha-2b in a Pre-filled Pen
17 Polycythemia Vera Symptom Study Evaluating Ruxolitinib Versus Hydroxyurea in a Randomized, Multicenter, Double-Blind, Double-Dummy, Phase 3 Efficacy and Safety Study of Patient Reported Outcomes Completed NCT01632904 Phase 3 Ruxolitinib;Hydroxyurea (HU);HU-placebo;Ruxolitinib-placebo
18 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
19 A Randomized, Open-label, Multicenter, Controlled, Parallel Arm, Phase III Study Assessing the Efficacy and Safety of AOP2014 vs. Hydroxyurea in Patients With Polycythemia Vera Completed NCT01949805 Phase 3 Peg-P-IFN-alpha-2b (AOP2014);Hydroxyurea
20 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
21 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
22 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
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 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
32 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
33 The ZEroPLASmaTrial (ZEPLAST): a Randomized, Controlled Trial on Transfusion Avoidance in High Transfusion-risk Cardiac Surgery Patients Completed NCT01471730 Phase 3 Fibrinogen;Saline solution;Prothrombin complex
34 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
35 A Phase III, Randomised, Open-label, Multicenter International Trial Comparing Ruxolitinib With Either HydRoxycarbamIDe or Interferon Alpha as First Line ThErapy for High Risk Polycythemia Vera Recruiting NCT04116502 Phase 3 Ruxolitinib;Hydroxycarbamide;Interferon-Alpha
36 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)
37 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
38 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
39 French Aspirin Study in Essential Thrombocythemia: an Open and Randomized Study Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
40 An Open-label, Multicenter, Phase IIIb Study Assessing the Long-term Efficacy and Safety of AOP2014 and Standard First Line Treatment (BAT) in Patients With Polycythemia Vera Who Previously Participated in the PROUD-PV Study Active, not recruiting NCT02218047 Phase 3 Pegylated-Proline-interferon alpha-2b;Best available therapy (BAT)
41 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
42 Safety and Efficacy of Ruxolitinib for COVID-19 Not yet recruiting NCT04348071 Phase 2, Phase 3 Ruxolitinib
43 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
44 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
45 A Large-scale Trial Testing the Intensity of CYTOreductive Therapy to Prevent Cardiovascular Events In Patients With Polycythemia Vera (PV) Terminated NCT01645124 Phase 3 Hydroxyurea
46 H-36371: Finasteride as a Method of Managing Testosterone-Induced Erythrocytosis Withdrawn NCT02548117 Phase 3 Finasteride
47 A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia. Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
48 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
49 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)
50 A Phase I/II Trial of Ruxolitinib in Chronic Lymphocytic Leukemia Patients at Risk for Progression on Ibrutinib Unknown status NCT02912754 Phase 1, Phase 2 ruxolitinib;ibrutinib

Search NIH Clinical Center for Polycythemia

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


anagrelide
Anagrelide hydrochloride
Busulfan
hydroxyurea
Interferon Alfa-2b
Pipobroman
ruxolitinib
Uracil Mustard

Cochrane evidence based reviews: polycythemia

Sources

Genetic Tests for Polycythemia

About this section

Genetic tests related to Polycythemia:

# Genetic test Affiliating Genes
1 Polycythemia (disease) 29
Sources

Anatomical Context for Polycythemia

About this section

MalaCards organs/tissues related to Polycythemia:

40
Bone, Bone Marrow, Myeloid, Heart, Kidney, Spleen, Liver
Sources

Publications for Polycythemia

About this section

Articles related to Polycythemia:

(show top 50) (show all 7932)
# Title Authors PMID Year
1
Genetic analysis of von Hippel-Lindau disease. 54 61
20151405 2010
2
Increased size of solid organs in patients with Chuvash polycythemia and in mice with altered expression of HIF-1alpha and HIF-2alpha. 54 61
20140661 2010
3
Advances in understanding the pathogenesis of primary familial and congenital polycythaemia. 61 54
20096014 2010
4
Trough serum testosterone predicts the development of polycythemia in hypogonadal men treated for up to 21 years with subcutaneous testosterone pellets. 54 61
19903801 2010
5
Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. 61 54
19494350 2009
6
[50-year-old woman with elevated haemoglobin and iron deficiency]. 61 54
19844282 2009
7
Enrichment of Sca1+ hematopoietic progenitors in polycythemic mice inhibits leukemogenesis. 54 61
19584401 2009
8
Hypoxia-inducible factor 2 regulates hepatic lipid metabolism. 54 61
19528226 2009
9
An inhibitor of Janus kinase 2 prevents polycythemia in mice. 54 61
19413997 2009
10
[Effect of polycythemia on hypoxia induced pulmonary hypertension and pulmonary vascular remodeling in rats]. 61 54
19764557 2009
11
Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia. 54 61
19304954 2009
12
The complete evaluation of erythrocytosis: congenital and acquired. 54 61
19295544 2009
13
Ligand-induced EpoR internalization is mediated by JAK2 and p85 and is impaired by mutations responsible for primary familial and congenital polycythemia. 54 61
19336760 2009
14
Frequency and clinical features of the JAK2 V617F mutation in pediatric patients with sporadic essential thrombocythemia. 61 54
18802948 2008
15
The saga of JAK2 mutations and translocations in hematologic disorders: pathogenesis, diagnostic and therapeutic prospects, and revised World Health Organization diagnostic criteria for myeloproliferative neoplasms. 54 61
18538168 2008
16
Elevated homocysteine, glutathione and cysteinylglycine concentrations in patients homozygous for the Chuvash polycythemia VHL mutation. 61 54
18223282 2008
17
Congenital and acquired polycythemias. 54 61
19633771 2008
18
von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. 61 54
17992257 2007
19
Erythropoietin gene expression in renal carcinoma is considerably more frequent than paraneoplastic polycythemia. 61 54
17640059 2007
20
Epigenetic control of PRV-1 expression on neutrophils. 61 54
17976520 2007
21
The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3. 61 54
17317861 2007
22
Polycythemia and increased erythropoietin in a patient with chronic kidney disease. 54 61
17389891 2007
23
Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia. 61 54
17369568 2007
24
Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. 61 54
17183644 2006
25
A phenotypic perspective on Mammalian oxygen sensor candidates. 61 54
17102090 2006
26
Endothelin-1, vascular endothelial growth factor and systolic pulmonary artery pressure in patients with Chuvash polycythemia. 54 61
16769575 2006
27
A phase II trial of pegylated interferon alpha-2b therapy for polycythemia vera and essential thrombocythemia: feasibility, clinical and biologic effects, and impact on quality of life. 61 54
16639737 2006
28
Oxygen sensing: recent insights from idiopathic erythrocytosis. 61 54
16687917 2006
29
Detection of abnormalities of PRV-1, TPO, and c-MPL genes detected by fluorescence in situ hybridization in essential thrombocythemia. 61 54
16682284 2006
30
Vascular complications in Chuvash polycythemia. 61 54
16673284 2006
31
Lessons from familial myeloproliferative disorders. 54 61
16210040 2005
32
Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. 61 54
15921386 2005
33
JAKing up hematopoietic proliferation. 54 61
15837617 2005
34
Inactivation of the arylhydrocarbon receptor nuclear translocator (Arnt) suppresses von Hippel-Lindau disease-associated vascular tumors in mice. 54 61
15798202 2005
35
Erythropoietin hypersensitivity in primary familial and congenital polycythemia: role of tyrosines Y285 and Y344 in erythropoietin receptor cytoplasmic domain. 61 54
15878737 2005
36
Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment. 54 61
15599750 2005
37
Erythropoietin protects from axotomy-induced degeneration of retinal ganglion cells by activating ERK-1/-2. 61 54
15556972 2005
38
Molecular pathogenesis of Philadelphia chromosome negative myeloproliferative disorders. 61 54
15572213 2005
39
[Childhood essential polycythemia: an unusual disorder]. 61 54
15689316 2005
40
A unique activating mutation in JAK2 (V617F) is at the origin of polycythemia vera and allows a new classification of myeloproliferative diseases. 54 61
16304380 2005
41
Diagnostic approaches to polycythemia vera in 2004. 54 61
15225097 2004
42
Polycythemia and oxygen sensing. 61 54
15217714 2004
43
PRV-1 mRNA expression discriminates two types of essential thrombocythemia. 61 54
15034760 2004
44
Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. 61 54
14726398 2004
45
Erythropoietin gene therapy leads to autoimmune anemia in macaques. 54 61
14695227 2004
46
Neutrophil PRV-1 expression across the chronic myeloproliferative disorders and in secondary or spurious polycythemia. 61 54
14701686 2004
47
The chronic myeloproliferative disorders: clonality and clinical heterogeneity. 61 54
15190515 2004
48
Performance characteristics of the IMMUNLITE 2000 erythropoietin assay. 61 54
14734215 2004
49
Quantification of PRV-1 mRNA distinguishes polycythemia vera from secondary erythrocytosis. 61 54
12893745 2003
50
Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. 54 61
14636647 2003
Sources

Variations for Polycythemia

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ClinVar genetic disease variations for Polycythemia:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 JAK2 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe)SNV Pathogenic 14662 rs77375493 9:5073770-5073770 9:5073770-5073770
2 VHL NM_000551.3(VHL):c.235C>T (p.Arg79Cys)SNV Conflicting interpretations of pathogenicity 161400 rs200885420 3:10183766-10183766 3:10142082-10142082

Copy number variations for Polycythemia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 251119 9 25500000 28100000 Mutation JAK2 polycythaemia
2 251120 9 25500000 28100000 Mutation V617F polycythaemia
3 253987 9 4985245 5128183 Mutation JAK2 polycythaemia
Sources

Expression for Polycythemia

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Search GEO for disease gene expression data for Polycythemia.
Sources

Pathways for Polycythemia

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Pathways related to Polycythemia according to GeneCards Suite gene sharing:

(show all 39)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.78 VHL THPO STAT5A KITLG JAK2 JAK1
2
TGF-Beta Pathway 63
Show member pathways
 13.46 THPO STAT5A MPL KITLG JAK2 JAK1
3
Akt Signaling 63
Show member pathways
 13.35 THPO STAT5A KITLG JAK2 JAK1 IL3
4
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.21 THPO SH2B3 NFE2 MPL JAK2 JAK1
5
p70S6K Signaling 63
Show member pathways
 12.99 THPO KITLG JAK2 JAK1 IL3 HIF1A
6
PI3K-Akt signaling pathway 36
Show member pathways
 12.93 KITLG JAK2 JAK1 IL3 EPOR EPO
7
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 64
Show member pathways
 12.72 THPO STAT5A MPL JAK2 JAK1
8
ErbB signaling pathway 36 1
Show member pathways
 12.56 VHL STAT5A JAK2 JAK1 HIF1A EGLN1
9
NF-kappaB Signaling 4
12.49 STAT5A MPL KITLG JAK2 JAK1 IL3
10
Pathways in cancer 36
12.38 VHL STAT5A KITLG JAK2 JAK1 IL3
11
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.35 THPO STAT5A KITLG IL3 EPOR
12
CNTF Signaling 63
Show member pathways
 12.28 STAT5A JAK2 JAK1 IL3
13
JAK-STAT signaling pathway 36
Show member pathways
 12.16 THPO STAT5A MPL JAK2 JAK1 IL3
14
Jak Stat Signaling Pathway 66
Show member pathways
 12.05 STAT5A JAK2 JAK1
15
Interleukin-4 and 13 signaling 65
11.91 JAK2 JAK1 HIF1A
16
IL27-mediated signaling events 1
Show member pathways
 11.87 STAT5A JAK2 JAK1
17
HIF-1 signaling pathway 36
11.87 VHL TFRC HIF1A EPO EGLN1
18
Hematopoietic Stem Cells and Lineage-specific Markers 64
11.86 THPO SH2B3 MPL KITLG IL3 EPO
19
Visual Cycle in Retinal Rods 63
11.82 THPO STAT5A MPL JAK2
20
Th17 Differentiation 64
Show member pathways
 11.79 STAT5A JAK2 JAK1
21
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 11.79 STAT5A JAK2 IL3
22
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.79 STAT5A SH2B3 JAK2 EPOR EPO
23
Hematopoietic cell lineage 36
11.73 THPO TFRC KITLG IL3 EPOR EPO
24
G-protein signaling_RhoA regulation pathway 22
11.67 THPO KITLG IL3 EPOR
25
AGE/RAGE pathway 1
11.63 STAT5A JAK2 HIF1A
26
HIF-1-alpha transcription factor network 1
11.62 TFRC HIF1A EPO EGLN1
27
IL4-mediated signaling events 1
11.6 STAT5A JAK2 JAK1
28
HIF1Alpha Pathway 63
11.49 VHL HIF1A EPO EGLN1
29
Differentiation Pathway 1
11.47 KITLG IL3 EPO
30
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.45 STAT5A JAK2 JAK1
31
Hematopoietic Stem Cell Differentiation 1
11.45 STAT5A NFE2 KITLG IL3 EPO
32
Th2 Differentiation 64
11.44 STAT5A JAK2 JAK1
33
Kit receptor signaling pathway 1
Show member pathways
 11.43 STAT5A SH2B3 KITLG JAK2 JAK1 IL3
34
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.41 JAK2 EPOR EPO
35
Photodynamic therapy-induced HIF-1 survival signaling 1
11.32 HIF1A EPO EGLN1
36
HIF-2-alpha transcription factor network 1
11.27 VHL EPO EGLN1
37
Immune response_Oncostatin M signaling via JAK-Stat in human cells 22
10.99 STAT5A JAK2 JAK1
38
Regulation of KIT signaling 65
10.87 SH2B3 KITLG
39
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha 1
10.84 VHL HIF1A
Sources

GO Terms for Polycythemia

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Cellular components related to Polycythemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.28 THPO TFRC KITLG IL3 F5 EPOR

Biological processes related to Polycythemia according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.25 THPO STAT5A SH2B3 KITLG JAK2 HIF1A
2 negative regulation of apoptotic process GO:0043066 10.02 VHL TFRC KITLG HIF1A EPO
3 MAPK cascade GO:0000165 9.93 KITLG JAK2 JAK1 IL3
4 positive regulation of cell proliferation GO:0008284 9.91 THPO KITLG JAK2 IL3 EPO CALR
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.81 KITLG JAK2 IL3
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.78 JAK2 EPOR EPO
7 blood coagulation GO:0007596 9.77 SH2B3 NFE2 JAK2 F5 CD177
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.75 JAK2 IL3 EPO
9 cellular iron ion homeostasis GO:0006879 9.71 TFRC HIF1A EGLN1
10 interleukin-6-mediated signaling pathway GO:0070102 9.65 JAK2 JAK1
11 negative regulation of JAK-STAT cascade GO:0046426 9.65 VHL SH2B3
12 megakaryocyte development GO:0035855 9.64 THPO SH2B3
13 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.64 STAT5A JAK2
14 blood circulation GO:0008015 9.63 NFE2 F5 EPO
15 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.62 JAK2 JAK1
16 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.62 VHL HIF1A EPO EGLN1
17 interleukin-15-mediated signaling pathway GO:0035723 9.61 STAT5A JAK1
18 interleukin-35-mediated signaling pathway GO:0070757 9.6 JAK2 JAK1
19 interleukin-27-mediated signaling pathway GO:0070106 9.59 JAK2 JAK1
20 interleukin-2-mediated signaling pathway GO:0038110 9.58 STAT5A JAK1
21 interleukin-9-mediated signaling pathway GO:0038113 9.57 STAT5A JAK1
22 positive regulation of receptor biosynthetic process GO:0010870 9.56 JAK2 HIF1A
23 positive regulation of Ras protein signal transduction GO:0046579 9.56 KITLG JAK2 EPOR EPO
24 oxygen homeostasis GO:0032364 9.55 HIF1A EGLN1
25 neutrophil homeostasis GO:0001780 9.52 SH2B3 MPL
26 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.51 THPO KITLG
27 cytokine-mediated signaling pathway GO:0019221 9.5 STAT5A MPL JAK2 JAK1 IL3 HIF1A
28 hemoglobin biosynthetic process GO:0042541 9.49 HIF1A EPO
29 erythropoietin-mediated signaling pathway GO:0038162 9.48 EPOR EPO
30 monocyte homeostasis GO:0035702 9.4 SH2B3 MPL
31 thrombopoietin-mediated signaling pathway GO:0038163 9.33 THPO SH2B3 MPL
32 embryonic hemopoiesis GO:0035162 8.92 SH2B3 KITLG IL3 HIF1A

Molecular functions related to Polycythemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 VHL TFRC TET2 STAT5A SLC30A10 SH2B3
2 cytokine activity GO:0005125 9.56 THPO KITLG IL3 EPO
3 growth hormone receptor binding GO:0005131 9.16 JAK2 JAK1
4 stem cell factor receptor binding GO:0005173 8.62 SH2B3 KITLG
Sources

Sources for Polycythemia

About this section
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
45 MGI
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
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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