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MCID: PLY018
MIFTS: 56

Polycythemia

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Polycythemia

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MalaCards integrated aliases for Polycythemia:

Name: Polycythemia 12 58 29 54 6 44 15 17 70
Polycythemia Vera 70
Erythrocythemia 12

Classifications:

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


External Ids:

Disease Ontology 12 DOID:8432
MeSH 44 D011086
NCIt 50 C26863
SNOMED-CT 67 127062003
ICD10 32 D75.1
MESH via Orphanet 45 D011086
UMLS via Orphanet 71 C0032461
Orphanet 58 ORPHA98427
UMLS 70 C0032461 C0032463
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Summaries for Polycythemia

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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 erythrocytosis, familial, 2 and acquired polycythemia. An important gene associated with Polycythemia is JAK2 (Janus Kinase 2), and among its related pathways/superpathways are TGF-Beta Pathway and Response to elevated platelet cytosolic Ca2+. The drugs Acetazolamide and Panobinostat have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and spleen, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 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 724)
# Related Disease Score Top Affiliating Genes
1 erythrocytosis, familial, 2 32.6 VHL HIF1A EPOR EPO EGLN1
2 acquired polycythemia 32.4 MPL JAK2 EPOR EPO EGLN1 CD177
3 erythrocytosis, familial, 1 32.4 STAT5A SH2B3 JAK2 INSL6 IL3 EPOR
4 plethora of newborn 32.3 EPO EGLN1
5 primary polycythemia 32.2 VHL STAT5A JAK2 IL3 HIF1A EPOR
6 polycythemia vera 31.9 THPO TFRC TET2 STAT5A NFE2 MPL
7 autosomal dominant secondary polycythemia 31.9 EPO EGLN1
8 budd-chiari syndrome 31.9 MPL JAK2 INSL6 F5 CALR
9 hemangioblastoma 31.9 VHL HIF1A EPOR EPO
10 erythrocytosis, familial, 8 31.9 JAK2 EPOR EGLN1
11 erythrocytosis, familial, 4 31.9 VHL EPOR EGLN1
12 splenomegaly 31.6 MPL JAK2 INSL6 EPO
13 essential thrombocythemia 31.2 THPO TET2 STAT5A SH2B3 NFE2 MPL
14 acute leukemia 31.2 THPO MPL JAK2 IL3 EPO
15 myeloproliferative neoplasm 31.2 THPO TET2 STAT5A SH2B3 MPL JAK2
16 thrombocytosis 30.9 THPO TET2 SH2B3 MPL JAK2 IL3
17 acute erythroid leukemia 30.8 NFE2 JAK2 EPOR EPO
18 paraganglioma 30.8 VHL HIF1A EGLN1
19 leukemia 30.7 THPO TET2 MPL JAK2 JAK1 IL3
20 acquired von willebrand syndrome 30.7 JAK2 CALR
21 portal vein thrombosis 30.7 MPL JAK2 F5 CALR
22 pheochromocytoma 30.6 VHL HIF1A EPOR EPO EGLN1
23 myelofibrosis 30.6 THPO TET2 STAT5A SH2B3 NFE2 MPL
24 pancytopenia 30.6 THPO MPL IL3 EPO
25 leukemia, chronic myeloid 30.5 THPO STAT5A MPL JAK2 IL3 EPOR
26 deficiency anemia 30.5 THPO TFRC SH2B3 NFE2 MPL JAK2
27 myeloma, multiple 30.5 TET2 SH2B3 JAK2 IL3 HIF1A
28 pheochromocytoma-paraganglioma 30.4 VHL EGLN1
29 iron deficiency anemia 30.4 THPO TFRC HIF1A EPO
30 refractory anemia 30.4 TET2 MPL JAK2 EPO
31 ischemic colitis 30.3 JAK2 HIF1A F5
32 chronic leukemia 30.3 TET2 STAT5A JAK2
33 mastocytosis 30.3 TET2 STAT5A JAK2 IL3
34 chronic myelomonocytic leukemia 30.2 TET2 STAT5A MPL JAK2 CALR
35 paroxysmal nocturnal hemoglobinuria 30.2 THPO TFRC MPL EPO
36 leukemia, acute myeloid 30.2 THPO TFRC TET2 STAT5A MPL JAK2
37 systemic mastocytosis 30.1 TET2 STAT5A JAK2
38 leukemia, acute lymphoblastic 30.1 THPO STAT5A MPL JAK2 JAK1 INSL6
39 beta-thalassemia 30.1 TFRC JAK2 IL3 F5 EPOR EPO
40 neutropenia 30.1 THPO TFRC MPL IL3 EPO CD177
41 thrombocythemia 3 30.0 JAK2 INSL6
42 myelophthisic anemia 30.0 SH2B3 MPL JAK2 EPO CALR
43 aplastic anemia 30.0 THPO TFRC TET2 MPL IL3 EPO
44 myelodysplastic syndrome 30.0 THPO TFRC TET2 STAT5A SH2B3 MPL
45 thrombocytopenia 30.0 THPO TFRC NFE2 MPL JAK2 IL3
46 clear cell renal cell carcinoma 30.0 VHL HIF1A EPOR EPO
47 chronic eosinophilic leukemia 30.0 TET2 STAT5A JAK2
48 acute megakaryocytic leukemia 29.9 THPO STAT5A MPL JAK2 JAK1 IL3
49 sagittal sinus thrombosis 29.9 JAK2 F5
50 hemorrhagic disease 29.7 THPO MPL JAK2 F5 EPO

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 9.64 MPL
2 Decreased viability GR00221-A-1 9.64 VHL
3 Decreased viability GR00221-A-2 9.64 JAK1 JAK2 VHL
4 Decreased viability GR00240-S-1 9.64 MPL TFRC
5 Decreased viability GR00249-S 9.64 F5 JAK1 SLC30A10 VHL
6 Decreased viability GR00301-A 9.64 VHL
7 Decreased viability GR00386-A-1 9.64 CALR CD177 EPO EPOR THPO
8 Decreased viability GR00402-S-2 9.64 EGLN1 IL3 TFRC THPO

MGI Mouse Phenotypes related to Polycythemia:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 CALR EGLN1 EPO EPOR HIF1A INSL6
2 growth/size/body region MP:0005378 10.28 CALR EGLN1 EPOR F5 HIF1A JAK1
3 hematopoietic system MP:0005397 10.28 CD177 EGLN1 EPO EPOR HIF1A JAK1
4 cardiovascular system MP:0005385 10.27 CALR EGLN1 EPO EPOR F5 HIF1A
5 homeostasis/metabolism MP:0005376 10.21 CALR EGLN1 EPO EPOR F5 HIF1A
6 immune system MP:0005387 10.2 CD177 EGLN1 EPO EPOR HIF1A JAK1
7 embryo MP:0005380 10.16 CALR EGLN1 EPO EPOR F5 HIF1A
8 integument MP:0010771 9.96 EGLN1 EPO F5 HIF1A JAK1 JAK2
9 liver/biliary system MP:0005370 9.93 EGLN1 EPO EPOR F5 HIF1A JAK1
10 mortality/aging MP:0010768 9.83 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 224)
# 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 4 585-86-4 157355
4 Anticonvulsants Phase 4
5 diuretics Phase 4
6 Carbonic Anhydrase Inhibitors Phase 4
7 Histone Deacetylase Inhibitors Phase 4
8
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
9
Pomalidomide Approved Phase 3 19171-19-8
10
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
11
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
12
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
13
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
14
Lenalidomide Approved Phase 3 191732-72-6 216326
15
Pipobroman Approved Phase 3 54-91-1 4842
16
Sodium citrate Approved, Investigational Phase 3 68-04-2
17
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
18
Iron Approved Phase 3 7439-89-6 23925 29936
19
Hydroxyurea Approved Phase 3 127-07-1 3657
20
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
21
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
22
Melphalan Approved Phase 3 148-82-3 4053 460612
23
tannic acid Approved Phase 3 1401-55-4
24
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
25
Danazol Approved Phase 3 17230-88-5 28417
26
Mercaptopurine Approved Phase 3 50-44-2 667490
27
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
28
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
29
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
30 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
31 Anesthetics, Dissociative Phase 3
32 Epoetin alfa Phase 3 113427-24-0
33 Angiogenesis Inhibitors Phase 3
34 Narcotics Phase 3
35 Excitatory Amino Acid Antagonists Phase 3
36 Analgesics, Opioid Phase 3
37 Cola Phase 3
38 Mitogens Phase 3
39 Antiparasitic Agents Phase 3
40 Antiprotozoal Agents Phase 3
41 Amebicides Phase 3
42 Liposomal amphotericin B Phase 3
43 Liver Extracts Phase 3
44 Anesthetics Phase 3
45 Anesthetics, Intravenous Phase 3
46 Anesthetics, General Phase 3
47 Protein Kinase Inhibitors Phase 3
48 Hepcidins 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 274)
# Name Status NCT ID Phase Drugs
1 Hypoventilation and High Altitude Chronic Polycythemia: Acetazolamide as a Possible Treatment Completed NCT00424970 Phase 4 acetazolamide
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 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 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
5 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
6 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)
7 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
8 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
9 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
10 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
11 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
12 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
13 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
14 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
15 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
16 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
17 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
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 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
20 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
21 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
22 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
23 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
24 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)
25 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
26 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
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 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
31 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
32 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)
33 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
34 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)
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 Phase 3, Double-blind, Randomized Study to Compare the Efficacy and Safety of Luspatercept (ACE-536) Versus Placebo in Subjects With Myeloproliferative Neoplasm-Associated Myelofibrosis on Concomitant JAK2 Inhibitor Therapy and Who Require Red Blood Cell Transfusions Recruiting NCT04717414 Phase 3 ACE-536
38 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
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 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
41 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)
42 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
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 H-36371: Finasteride as a Method of Managing Testosterone-Induced Erythrocytosis Withdrawn NCT02548117 Phase 3 Finasteride
46 A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia. Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
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 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 Multicenter Phase 2 Study of Efficacy and Safety of Pegylated Interferon-alfa 2a in Polycythemia Vera Patients Completed NCT00241241 Phase 2 pegylated interferon-alfa 2a
50 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

Search NIH Clinical Center for Polycythemia

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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

Cochrane evidence based reviews: polycythemia

Sources

Genetic Tests for Polycythemia

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Genetic tests related to Polycythemia:

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

Anatomical Context for Polycythemia

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MalaCards organs/tissues related to Polycythemia:

40
Bone Marrow, Myeloid, Spleen, Bone, Endothelial, Neutrophil, Whole Blood
Sources

Publications for Polycythemia

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Articles related to Polycythemia:

(show top 50) (show all 8235)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Genetic analysis of von Hippel-Lindau disease. 54 61
20151405 2010
3
Increased size of solid organs in patients with Chuvash polycythemia and in mice with altered expression of HIF-1alpha and HIF-2alpha. 61 54
20140661 2010
4
Advances in understanding the pathogenesis of primary familial and congenital polycythaemia. 61 54
20096014 2010
5
Trough serum testosterone predicts the development of polycythemia in hypogonadal men treated for up to 21 years with subcutaneous testosterone pellets. 61 54
19903801 2010
6
Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. 61 54
19494350 2009
7
[50-year-old woman with elevated haemoglobin and iron deficiency]. 54 61
19844282 2009
8
An inhibitor of Janus kinase 2 prevents polycythemia in mice. 61 54
19413997 2009
9
Hypoxia-inducible factor 2 regulates hepatic lipid metabolism. 61 54
19528226 2009
10
Enrichment of Sca1+ hematopoietic progenitors in polycythemic mice inhibits leukemogenesis. 61 54
19584401 2009
11
[Effect of polycythemia on hypoxia induced pulmonary hypertension and pulmonary vascular remodeling in rats]. 61 54
19764557 2009
12
Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia. 54 61
19304954 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
The complete evaluation of erythrocytosis: congenital and acquired. 61 54
19295544 2009
15
Frequency and clinical features of the JAK2 V617F mutation in pediatric patients with sporadic essential thrombocythemia. 54 61
18802948 2008
16
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
17
Elevated homocysteine, glutathione and cysteinylglycine concentrations in patients homozygous for the Chuvash polycythemia VHL mutation. 54 61
18223282 2008
18
Congenital and acquired polycythemias. 61 54
19633771 2008
19
von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. 61 54
17992257 2007
20
Erythropoietin gene expression in renal carcinoma is considerably more frequent than paraneoplastic polycythemia. 54 61
17640059 2007
21
Epigenetic control of PRV-1 expression on neutrophils. 61 54
17976520 2007
22
The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3. 54 61
17317861 2007
23
Polycythemia and increased erythropoietin in a patient with chronic kidney disease. 61 54
17389891 2007
24
Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia. 54 61
17369568 2007
25
Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F. 54 61
17183644 2006
26
A phenotypic perspective on Mammalian oxygen sensor candidates. 61 54
17102090 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. 54 61
16639737 2006
28
Endothelin-1, vascular endothelial growth factor and systolic pulmonary artery pressure in patients with Chuvash polycythemia. 61 54
16769575 2006
29
Oxygen sensing: recent insights from idiopathic erythrocytosis. 61 54
16687917 2006
30
Detection of abnormalities of PRV-1, TPO, and c-MPL genes detected by fluorescence in situ hybridization in essential thrombocythemia. 61 54
16682284 2006
31
Vascular complications in Chuvash polycythemia. 61 54
16673284 2006
32
Lessons from familial myeloproliferative disorders. 54 61
16210040 2005
33
Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. 61 54
15921386 2005
34
JAKing up hematopoietic proliferation. 54 61
15837617 2005
35
Erythropoietin hypersensitivity in primary familial and congenital polycythemia: role of tyrosines Y285 and Y344 in erythropoietin receptor cytoplasmic domain. 54 61
15878737 2005
36
Inactivation of the arylhydrocarbon receptor nuclear translocator (Arnt) suppresses von Hippel-Lindau disease-associated vascular tumors in mice. 61 54
15798202 2005
37
Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment. 54 61
15599750 2005
38
Erythropoietin protects from axotomy-induced degeneration of retinal ganglion cells by activating ERK-1/-2. 61 54
15556972 2005
39
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
40
Molecular pathogenesis of Philadelphia chromosome negative myeloproliferative disorders. 54 61
15572213 2005
41
[Childhood essential polycythemia: an unusual disorder]. 61 54
15689316 2005
42
Diagnostic approaches to polycythemia vera in 2004. 61 54
15225097 2004
43
Polycythemia and oxygen sensing. 61 54
15217714 2004
44
PRV-1 mRNA expression discriminates two types of essential thrombocythemia. 54 61
15034760 2004
45
Neutrophil PRV-1 expression across the chronic myeloproliferative disorders and in secondary or spurious polycythemia. 54 61
14701686 2004
46
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
47
Erythropoietin gene therapy leads to autoimmune anemia in macaques. 54 61
14695227 2004
48
The chronic myeloproliferative disorders: clonality and clinical heterogeneity. 54 61
15190515 2004
49
Performance characteristics of the IMMUNLITE 2000 erythropoietin assay. 61 54
14734215 2004
50
Quantification of PRV-1 mRNA distinguishes polycythemia vera from secondary erythrocytosis. 61 54
12893745 2003
Sources

Variations for Polycythemia

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ClinVar genetic disease variations for Polycythemia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 JAK2 , INSL6 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV Pathogenic 14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
2 VHL NM_000551.3(VHL):c.235C>T (p.Arg79Cys) SNV Likely benign 161400 rs200885420 GRCh37: 3:10183766-10183766
GRCh38: 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 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 31)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 63
Show member pathways
 13.48 THPO STAT5A MPL JAK2 JAK1 IL3
2
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.21 THPO SH2B3 NFE2 MPL JAK2 JAK1
3
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 64
Show member pathways
 12.7 THPO STAT5A MPL JAK2 JAK1
4
ErbB signaling pathway 36 1
Show member pathways
 12.54 VHL STAT5A JAK2 JAK1 HIF1A EGLN1
5
Pathways in cancer 36
12.53 VHL STAT5A JAK2 JAK1 IL3 HIF1A
6
NF-kappaB Signaling 4
12.48 STAT5A MPL JAK2 JAK1 IL3
7
CNTF Signaling 63
Show member pathways
 12.25 STAT5A JAK2 JAK1 IL3
8
Interleukin-4 and 13 signaling 65
11.88 JAK2 JAK1 HIF1A
9
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.87 THPO SH2B3 MPL IL3 EPO
10
Visual Cycle in Retinal Rods 63
11.81 THPO STAT5A MPL JAK2
11
HIF-1 signaling pathway 36
11.8 VHL TFRC HIF1A EPO EGLN1
12
Th17 Differentiation Pathway 64
Show member pathways
 11.78 STAT5A JAK2 JAK1
13
Immune response IL-2 activation and signaling pathway 23
Show member pathways
 11.78 STAT5A JAK2 IL3
14
Hematopoietic cell lineage 36
11.72 THPO TFRC IL3 EPOR EPO
15
Kit receptor signaling pathway 1
Show member pathways
 11.71 STAT5A SH2B3 JAK2 JAK1 IL3 EPOR
16
Th1 Differentiation Pathway 64
Show member pathways
 11.69 STAT5A JAK2 JAK1
17
Commom Cytokine Receptor G Chain Siganaling Pathway 66
11.66 STAT5A JAK2 JAK1
18
Development EPO-induced Jak-STAT pathway 23
Show member pathways
 11.64 STAT5A SH2B3 JAK2 EPOR EPO
19
JAK-STAT signaling pathway 36
Show member pathways
 11.62 THPO STAT5A MPL JAK2 JAK1 IL3
20
AGE/RAGE pathway 1
11.61 STAT5A JAK2 HIF1A
21
HIF-1-alpha transcription factor network 1
11.61 TFRC HIF1A EPO EGLN1
22
IL4-mediated signaling events 1
11.58 STAT5A JAK2 JAK1
23
HIF1Alpha Pathway 63
11.49 VHL HIF1A EPO EGLN1
24
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.45 STAT5A JAK2 JAK1
25
Th2 Differentiation Pathway 64
11.43 STAT5A JAK2 JAK1
26
Hematopoietic Stem Cell Differentiation 1
11.42 STAT5A NFE2 IL3 EPO
27
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.4 JAK2 EPOR EPO
28
Photodynamic therapy-induced HIF-1 survival signaling 1
11.3 HIF1A EPO EGLN1
29
HIF-2-alpha transcription factor network 1
11.26 VHL EPO EGLN1
30
Immune response_Oncostatin M signaling via JAK-Stat in human cells 23
10.98 STAT5A JAK2 JAK1
31
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha 1
10.82 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 INSL6 IL3 F5 EPOR

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.11 THPO TFRC STAT5A SH2B3 JAK2 INSL6
2 positive regulation of cell proliferation GO:0008284 10 THPO JAK2 IL3 EPO CALR
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.77 JAK2 EPOR EPO
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.71 JAK2 IL3 EPO
5 blood coagulation GO:0007596 9.65 SH2B3 NFE2 JAK2 F5 CD177
6 megakaryocyte development GO:0035855 9.62 THPO SH2B3
7 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.61 STAT5A JAK2
8 positive regulation of signaling receptor activity GO:2000273 9.59 JAK2 HIF1A
9 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.58 JAK2 JAK1
10 interleukin-15-mediated signaling pathway GO:0035723 9.58 STAT5A JAK1
11 positive regulation of Ras protein signal transduction GO:0046579 9.58 JAK2 EPOR EPO
12 interleukin-35-mediated signaling pathway GO:0070757 9.57 JAK2 JAK1
13 interleukin-27-mediated signaling pathway GO:0070106 9.56 JAK2 JAK1
14 interleukin-2-mediated signaling pathway GO:0038110 9.55 STAT5A JAK1
15 interleukin-9-mediated signaling pathway GO:0038113 9.52 STAT5A JAK1
16 oxygen homeostasis GO:0032364 9.51 HIF1A EGLN1
17 embryonic hemopoiesis GO:0035162 9.5 SH2B3 IL3 HIF1A
18 neutrophil homeostasis GO:0001780 9.49 SH2B3 MPL
19 hemoglobin biosynthetic process GO:0042541 9.48 HIF1A EPO
20 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.46 VHL HIF1A EPO EGLN1
21 erythropoietin-mediated signaling pathway GO:0038162 9.43 EPOR EPO
22 monocyte homeostasis GO:0035702 9.37 SH2B3 MPL
23 cytokine-mediated signaling pathway GO:0019221 9.17 STAT5A MPL JAK2 JAK1 IL3 HIF1A
24 thrombopoietin-mediated signaling pathway GO:0038163 9.13 THPO SH2B3 MPL

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

# Name GO ID Score Top Affiliating Genes
1 growth hormone receptor binding GO:0005131 8.62 JAK2 JAK1
Sources

Sources for Polycythemia

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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