MCID: PRM012
MIFTS: 52

Primary Polycythemia

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

Aliases & Classifications for Primary Polycythemia

MalaCards integrated aliases for Primary Polycythemia:

Name: Primary Polycythemia 12 15
Familial Erythrocytosis 12 71
Polycythemia, Primary Familial and Congenital 43
Familiar Polycythemia 12
Polycythemia Vera 71

Classifications:



External Ids:

Disease Ontology 12 DOID:10780
ICD9CM 34 289.6
MeSH 43 C536842
NCIt 49 C26955
SNOMED-CT 67 17342003
ICD10 32 D75.0
UMLS 71 C0032463 C0152264

Summaries for Primary Polycythemia

Disease Ontology : 12 A polycythemia that has material basis in factors intrinsic to red cell precursors.

MalaCards based summary : Primary Polycythemia, also known as familial erythrocytosis, is related to erythrocytosis, familial, 1 and polycythemia vera, and has symptoms including fatigue, headache and dizziness. An important gene associated with Primary Polycythemia is EPOR (Erythropoietin Receptor), and among its related pathways/superpathways are PEDF Induced Signaling and TGF-Beta Pathway. The drugs Panobinostat and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and t cells, and related phenotypes are hematopoietic system and cellular

Related Diseases for Primary Polycythemia

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 Primary Polycythemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 erythrocytosis, familial, 1 32.9 STAT5B STAT5A JAK2 IL3 EPOR EPO
2 polycythemia vera 30.9 THPO TET2 STAT5B STAT5A SOCS3 MPL
3 acquired polycythemia 30.2 MPL JAK2 EPOR EPO DPM1
4 myeloid leukemia 29.3 U2AF1 TET2 STAT5B STAT5A JAK2 IL3
5 polycythemia 28.6 THPO TET2 STAT5B STAT5A MPL KDM4C
6 myelofibrosis 27.6 U2AF1 THPO TET2 STAT5B STAT5A SOCS3
7 myeloproliferative neoplasm 27.5 U2AF1 THPO TET2 STAT5B STAT5A SOCS3
8 erythrocytosis, familial, 2 11.5
9 erythrocytosis, familial, 8 11.2
10 erythrocytosis, familial, 3 11.2
11 erythrocytosis, familial, 4 11.2
12 erythrocytosis, familial, 5 11.2
13 erythrocytosis, familial, 6 11.2
14 erythrocytosis, familial, 7 11.2
15 retinitis pigmentosa and erythrocytic microcytosis 10.4 JAK2 IL3 EPO
16 mixed lacrimal gland cancer 10.4 JAK2 JAK1
17 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.4 JAK2 EPO ABL1
18 splenomegaly 10.4 MPL JAK2 EPO
19 lymphoblastic leukemia, acute, with lymphomatous features 10.4 JAK2 JAK1 ABL1
20 systemic mastocytosis with associated hematologic neoplasm 10.4 TET2 ASXL1
21 wernicke encephalopathy 10.3 U2AF1 KDM4C JAK2
22 neutrophilia, hereditary 10.3 U2AF1 LUC7L2 JAK2 IL3
23 refractory cytopenia with multilineage dysplasia 10.3 U2AF1 TET2 ASXL1
24 portal vein thrombosis 10.3 MPL JAK2 CALR
25 extracutaneous mastocytoma 10.3 U2AF1 TET2 ASXL1
26 glioblastoma neural subtype 10.3 STAT5B STAT5A
27 anemia of prematurity 10.3 EPOR EPO
28 thrombocytopenia 3 10.3 THPO MPL
29 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.3 STAT5B STAT5A IL3
30 thrombocythemia 1 10.3 THPO MPL CALR
31 jak3-deficient severe combined immunodeficiency 10.3 STAT5B STAT5A JAK1
32 congenital hypoplastic anemia 10.3 U2AF1 LUC7L2 IL3 EPO
33 splenic sequestration 10.3 THPO MPL EPO
34 budd-chiari syndrome 10.3 MPL JAK2 CALR
35 indolent systemic mastocytosis 10.3 U2AF1 TET2 ASXL1
36 dyskeratosis congenita, autosomal dominant 6 10.3 THPO MPL
37 crisponi/cold-induced sweating syndrome 2 10.2 STAT5B STAT5A JAK1
38 myeloproliferative syndrome, transient 10.2 U2AF1 THPO MPL
39 sm-ahnmd 10.2 U2AF1 TET2 JAK2 ASXL1
40 severe combined immunodeficiency 10.2 STAT5B STAT5A JAK1 IL3
41 hypereosinophilic syndrome 10.2 STAT5B JAK2 IL3 ABL1
42 hemoglobinuria 10.1 THPO MPL EPO
43 acquired thrombocytopenia 10.1 THPO MPL
44 acute t cell leukemia 10.1 U2AF1 STAT5B KDM4C ABL1
45 refractory anemia 10.1 TET2 MPL IL3 EPO ASXL1
46 erythroleukemia, familial 10.0 EPOR EPO
47 severe congenital neutropenia 10.0 STAT5A JAK2 IL3
48 megakaryocytic leukemia 10.0 U2AF1 THPO KDM4C JAK2 IL3 EPOR
49 amegakaryocytic thrombocytopenia, congenital 10.0 U2AF1 THPO MPL LUC7L2 JAK2 IL3
50 systemic mastocytosis 10.0 TET2 STAT5B STAT5A JAK2 ASXL1

Comorbidity relations with Primary Polycythemia via Phenotypic Disease Network (PDN):


Acquired Polycythemia Chronic Pulmonary Heart Disease
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Peripheral Vascular Disease
Respiratory Failure Retinitis Pigmentosa and Erythrocytic Microcytosis
Transient Cerebral Ischemia

Graphical network of the top 20 diseases related to Primary Polycythemia:



Diseases related to Primary Polycythemia

Symptoms & Phenotypes for Primary Polycythemia

UMLS symptoms related to Primary Polycythemia:


fatigue, headache, dizziness, dyspnea on exertion

MGI Mouse Phenotypes related to Primary Polycythemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.28 ABL1 ASXL1 CD177 EPO EPOR JAK1
2 cellular MP:0005384 10.26 ABL1 ASXL1 CALR EPO EPOR JAK2
3 growth/size/body region MP:0005378 10.25 ABL1 ASXL1 CALR EPOR JAK1 JAK2
4 homeostasis/metabolism MP:0005376 10.21 ABL1 ASXL1 CALR EPO EPOR JAK1
5 immune system MP:0005387 10.2 ABL1 ASXL1 CD177 EPO EPOR JAK1
6 endocrine/exocrine gland MP:0005379 10.11 ABL1 ASXL1 JAK1 JAK2 KDM4C SOCS2
7 liver/biliary system MP:0005370 10 ABL1 ASXL1 EPO EPOR JAK1 JAK2
8 mortality/aging MP:0010768 10 ABL1 ASXL1 CALR DPM1 EPO EPOR
9 normal MP:0002873 9.61 ABL1 EPO EPOR JAK1 JAK2 SOCS3
10 respiratory system MP:0005388 9.17 ABL1 EPO EPOR JAK1 JAK2 SOCS2

Drugs & Therapeutics for Primary Polycythemia

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

(show top 50) (show all 232)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
2
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
3
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
4
Pomalidomide Approved Phase 3 19171-19-8
5
Lenalidomide Approved Phase 3 191732-72-6 216326
6
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
7
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
8
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
9
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
10
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
11
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
12
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 468682 2826718
13
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
14
Anagrelide Approved Phase 3 68475-42-3 2182
15
Peginterferon alfa-2b Approved Phase 3 215647-85-1, 99210-65-8
16
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
17
Hydroxyurea Approved Phase 3 127-07-1 3657
18
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
19
Mercaptopurine Approved Phase 3 50-44-2 667490
20
Melphalan Approved Phase 3 148-82-3 4053 460612
21
Danazol Approved Phase 3 17230-88-5 28417
22
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
23
tannic acid Approved Phase 3 1401-55-4
24
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
25
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
26
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
27 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
28 Anesthetics, Dissociative Phase 3
29 Anti-Infective Agents Phase 3
30 Neurotransmitter Agents Phase 3
31 Analgesics Phase 3
32 Anti-Bacterial Agents Phase 3
33 Angiogenesis Inhibitors Phase 3
34 Antifungal Agents Phase 3
35 Liver Extracts Phase 3
36 Etoposide phosphate Phase 2, Phase 3
37 Antipsychotic Agents Phase 3
38 Central Nervous System Depressants Phase 3
39 Tranquilizing Agents Phase 3
40 Analgesics, Opioid Phase 3
41 Psychotropic Drugs Phase 3
42 Antipruritics Phase 3
43 Anti-Anxiety Agents Phase 3
44 Serotonin Agents Phase 3
45 Serotonin Antagonists Phase 3
46 Cola Phase 3
47 Narcotics Phase 3
48 Excitatory Amino Acid Antagonists Phase 3
49 Excitatory Amino Acids Phase 3
50 Anesthetics Phase 3

Interventional clinical trials:

(show top 50) (show all 276)
# Name Status NCT ID Phase Drugs
1 An Open Label, Multi-center, Phase IV Rollover Protocol for Patients Who Have Completed a Global Novartis or Incyte Sponsored Ruxolitinib (INC424) or Ruxolitinib and Panobinostat (LBH589) Combination Study and Are Judged by the Investigator to Benefit From Continued Treatment Recruiting NCT02386800 Phase 4 Ruxolitinib;Panobinostat
2 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
3 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
4 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
5 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
6 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)
7 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
8 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
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
18 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
19 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
20 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
21 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
22 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
23 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
24 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
25 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)
26 French Aspirin Study in Essential Thrombocythemia: an Open and Randomized Study Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
27 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) Active, not recruiting NCT02038036 Phase 3 Best Available Therapy;ruxolitinib
28 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) Active, not recruiting NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
29 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)
30 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 Active, not recruiting NCT02101268 Phase 3 Momelotinib;Best Available Therapy (BAT)
31 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 Active, not recruiting NCT04173494 Phase 3 Momelotinib;Danazol;Placebo to match momelotinib;Placebo to match danazol
32 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
33 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 Not yet recruiting NCT04116502 Phase 3 Ruxolitinib;Hydroxycarbamide;Interferon-Alpha
34 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
35 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
36 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
37 A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia. Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
38 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
39 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)
40 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
41 A Phase II Trial of the Treatment of Polycythemia Vera With Gleevec Completed NCT01120821 Phase 2 Gleevec
42 An Open-Label Study of Oral CEP-701 in Patients With Polycythemia Vera or Essential Thrombocytosis With the JAK2 V617F Mutation Completed NCT00586651 Phase 2 lestaurtinib
43 Glivec (Imatinib Mesylate) in the Treatment of Polycythemia Vera Completed NCT00430066 Phase 2 Imatinib Mesylate
44 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
45 Phase II Trial of Oral Panobinostat (LBH589), a Novel Deacetylase Inhibitor (DACi) in Patients With Primary Myelofibrosis (PMF), Post Essential Thrombocythemia (ET) Myelofibrosis and Post- Polycythemia Vera (PV) Myelofibrosis Completed NCT00931762 Phase 2 Panobinostat
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 Phase 2, Prospective, Open-Label Study to Determine the Safety and Efficacy of SB939, A Histone Deacetylase Inhibitor, in Subjects With Primary, Post-Polycythemia Vera, or Post-Essential Thrombocythemia Myelofibrosis (PMF; Post-Polycythemia Vera (PV) Myelofibrosis (MF), Or Post- Essential Thrombosis (ET) MF Completed NCT01200498 Phase 2 SB939
48 A Phase 2 Study of IPI-926 in Patients With Myelofibrosis Completed NCT01371617 Phase 2 IPI-926
49 An Open-label, Prospective, Multicentre, Phase I/II Dose Escalation Study to Determine the Maximum Tolerated Dose and to Assess the Safety and Efficacy of P1101, PEG-Proline-Interferon Alpha-2b in Patients With Polycythaemia Vera Completed NCT01193699 Phase 1, Phase 2 PEG-P-INF alpha-2b (P1101)
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 Primary 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, primary familial and congenital

Genetic Tests for Primary Polycythemia

Anatomical Context for Primary Polycythemia

MalaCards organs/tissues related to Primary Polycythemia:

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

Publications for Primary Polycythemia

Articles related to Primary Polycythemia:

(show top 50) (show all 141)
# Title Authors PMID Year
1
A 38-Year-Old Man With Well Treated OSA on CPAP With Persistent Nocturnal Hypoxemia. 61
31916968 2020
2
Recurrent cerebral venous sinus thrombosis in a young man- A case report of JAK2-negative polycythemia vera. 61
31742182 2019
3
Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases. 61
31376207 2019
4
A Kindred with a β-Globin Base Substitution [β89(F5)Ser→Arg (AGT>AGG); HBB: c.270T>G] Resulting in Hemoglobin Vanderbilt. 61
31657650 2019
5
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. 61
30507031 2019
6
Singular case of osteolytic lesions revealing transformation of myeloproliferative syndrome to acute leukemia. 61
30471421 2019
7
The role of 18F-FDG PET in the assessment of a benign hematological disorder: polycythemia. 61
30843002 2019
8
[Cytopenia under topical imiquimod in two patients treated with oral hydroxyurea]. 61
30217687 2018
9
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. 61
29891534 2018
10
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. 61
29514032 2018
11
From anemia to polycythemia in 4 weeks. 61
28878919 2017
12
EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis. 61
27292716 2016
13
Structural basis for oxygen degradation domain selectivity of the HIF prolyl hydroxylases. 61
27561929 2016
14
Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis. 61
27240426 2016
15
Idiopathic erythrocytosis: a study of a large cohort with a long follow-up. 61
26547864 2016
16
Somatic JAK-2 V617F Mutational Analysis in Polycythemia Rubra Vera: a Tertiary Care Center Experience. 61
27039724 2016
17
[Acute sectorial choroidal ischemia secondary to primary polycythemia vera]. 61
26144591 2015
18
Endovascular stent graft repair of thoracic aortic mural thrombus in a patient with polycythemia vera: a word of caution. 61
24569113 2015
19
A rare case of large aortopulmonary window with Eisenmenger syndrome and adult survival. 61
30534241 2014
20
Linking tissues to phenotypes using gene expression profiles. 61
24634472 2014
21
Genetic basis of congenital erythrocytosis: mutation update and online databases. 61
24115288 2014
22
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range. 61
23716564 2013
23
Regulation of erythropoiesis by hypoxia-inducible factors. 61
23291219 2013
24
Erythrocytosis in a child due to Hb Andrew-Minneapolis [β144(HC1)Lys→Asn (AAG>AAT or AAC)] associated with a Spanish (δβ)(0)-thalassemia. 61
23215953 2013
25
Familial secondary erythrocytosis due to increased oxygen affinity is caused by destabilization of the T state of hemoglobin Brigham (α₂β₂(Pro100Leu)). 61
22821886 2012
26
Clinical utility gene card for: familial erythrocytosis. 61
22274579 2012
27
Why does my patient have erythrocytosis? 61
22463827 2012
28
[Clinical application of professor MA Rou's experience in treating hematological disease by arsenic-containing Chinese herbal medicine]. 61
21910353 2011
29
Identification of JAK2 mutations in canine primary polycythemia. 61
21320566 2011
30
Cerebral Venous Thrombosis and Venous Infarction: Case Report of a Rare Initial Presentation of Smoker's Polycythemia. 61
21151631 2010
31
[Molecular markers in hematology and oncology]. 61
20859878 2010
32
[Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis]. 61
19915370 2009
33
Spontaneous erythrocytosis in a patient on chronic hemodialysis. 61
19775422 2009
34
Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. 61
19494350 2009
35
Subacute intestinal obstruction associated with a case of polycythemia vera--a rare combination. 61
19757706 2009
36
PHD2 mutation and congenital erythrocytosis with paraganglioma. 61
19092153 2008
37
Biochemical characterization of human prolyl hydroxylase domain protein 2 variants associated with erythrocytosis. 61
18834144 2008
38
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis. 61
18508787 2008
39
Familial erythrocytosis: molecular links to red blood cell control. 61
18591620 2008
40
The HIF2A gene in familial erythrocytosis. 61
18456917 2008
41
The HIF2A gene in familial erythrocytosis. 61
18450610 2008
42
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway. 61
18711622 2008
43
The HIF2A gene in familial erythrocytosis. 61
18456918 2008
44
Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene. 61
17933562 2008
45
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 61
18184961 2008
46
Endogenous erythroid colony formation in patients with retinal vein occlusion. 61
18054634 2007
47
[Chemotherapy against polycythemia due to a cyanotic congenital heart disease in adults. One case report]. 61
17657936 2007
48
Overexpression of SOCS-2 and SOCS-3 genes reverses erythroid overgrowth and IGF-I hypersensitivity of primary polycythemia vera (PV) cells. 61
17325857 2007
49
Cellular oxygen sensing: Crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2). 61
16782814 2006
50
Oxygen sensing: recent insights from idiopathic erythrocytosis. 61
16687917 2006

Variations for Primary Polycythemia

Expression for Primary Polycythemia

Search GEO for disease gene expression data for Primary Polycythemia.

Pathways for Primary Polycythemia

Pathways related to Primary Polycythemia according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 THPO STAT5B STAT5A SOCS3 SOCS2 MPL
2
Show member pathways
13.54 THPO STAT5B STAT5A SOCS3 SOCS2 MPL
3
Show member pathways
13.42 THPO STAT5B STAT5A JAK2 JAK1 IL3
4
Show member pathways
13.37 STAT5B STAT5A SOCS3 SOCS2 JAK2 JAK1
5
Show member pathways
13.34 THPO MPL JAK2 JAK1 IL3 CD177
6
Show member pathways
13.21 STAT5B STAT5A SOCS3 SOCS2 MPL JAK2
7
Show member pathways
13.13 STAT5B STAT5A SOCS3 JAK2 JAK1 CALR
8
Show member pathways
12.87 STAT5B STAT5A JAK1 IL3 ABL1
9 12.86 STAT5B STAT5A JAK2 JAK1 IL3 EPOR
10
Show member pathways
12.83 STAT5B STAT5A SOCS3 JAK2 JAK1 CALR
11
Show member pathways
12.81 STAT5B STAT5A JAK2 EPOR EPO ABL1
12
Show member pathways
12.8 THPO STAT5B STAT5A SOCS3 SOCS2 MPL
13
Show member pathways
12.69 STAT5B STAT5A SOCS3 SOCS2 JAK2
14
Show member pathways
12.64 STAT5B STAT5A JAK2 JAK1 ABL1
15
Show member pathways
12.62 STAT5B STAT5A SOCS3 JAK2 JAK1
16
Show member pathways
12.6 STAT5B STAT5A SOCS3 JAK2 JAK1
17
Show member pathways
12.51 STAT5B STAT5A SOCS3 SOCS2 JAK2 JAK1
18 12.48 STAT5B STAT5A SOCS3 SOCS2 MPL JAK2
19
Show member pathways
12.41 STAT5B STAT5A SOCS3 JAK2 JAK1
20 12.36 STAT5B STAT5A JAK1 CALR
21
Show member pathways
12.35 STAT5B STAT5A JAK2 JAK1 IL3
22
Show member pathways
12.31 STAT5B STAT5A JAK2 JAK1
23
Show member pathways
12.28 THPO SOCS3 JAK1 IL3 ABL1
24
Show member pathways
12.23 STAT5B STAT5A JAK2 JAK1
25
Show member pathways
12.22 STAT5B SOCS3 JAK2 JAK1
26 12.21 STAT5B STAT5A JAK2 JAK1 ABL1
27
Show member pathways
12.1 STAT5B STAT5A SOCS3 SOCS2 JAK2 JAK1
28
Show member pathways
12.07 STAT5B STAT5A JAK2 JAK1
29
Show member pathways
12.07 STAT5B STAT5A JAK2 JAK1 IL3 EPOR
30 12.02 THPO MPL IL3 EPO
31
Show member pathways
11.94 STAT5B STAT5A JAK2
32 11.93 THPO STAT5B STAT5A SOCS3 MPL JAK2
33 11.92 THPO IL3 EPOR EPO
34 11.9 STAT5B STAT5A JAK2
35
Show member pathways
11.88 STAT5B STAT5A SOCS3 JAK2 IL3
36
Show member pathways
11.87 STAT5B STAT5A SOCS3 JAK2 EPOR EPO
37
Show member pathways
11.83 SOCS3 JAK2 JAK1
38 11.77 STAT5B STAT5A JAK2
39
Show member pathways
11.73 THPO STAT5B STAT5A SOCS3 SOCS2 MPL
40
Show member pathways
11.71 STAT5B STAT5A JAK1
41 11.71 STAT5B STAT5A JAK2
42 11.71 STAT5B STAT5A SOCS3 JAK2 JAK1
43
Show member pathways
11.64 SOCS3 JAK2 JAK1
44 11.62 STAT5A SOCS3 JAK1
45 11.61 STAT5B STAT5A ABL1
46 11.6 STAT5B STAT5A SOCS3 SOCS2 JAK2 JAK1
47 11.59 STAT5B STAT5A SOCS3 JAK2
48 11.55 STAT5A IL3 EPO
49 11.55 STAT5B STAT5A JAK2 JAK1
50 11.53 STAT5A JAK2 JAK1

GO Terms for Primary Polycythemia

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10 THPO KDM4C JAK2 IL3 EPO CALR
2 response to estradiol GO:0032355 9.8 STAT5B SOCS2 CALR
3 positive regulation of neuron differentiation GO:0045666 9.79 SOCS2 KDM4C EPO
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 JAK2 IL3 ABL1
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.77 JAK2 EPOR EPO
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.76 SOCS3 JAK2 IL3 EPO
7 lactation GO:0007595 9.72 STAT5B STAT5A SOCS2
8 positive regulation of Ras protein signal transduction GO:0046579 9.69 JAK2 EPOR EPO
9 regulation of multicellular organism growth GO:0040014 9.67 STAT5B STAT5A SOCS2
10 interleukin-6-mediated signaling pathway GO:0070102 9.65 SOCS3 JAK2 JAK1
11 negative regulation of JAK-STAT cascade GO:0046426 9.63 SOCS3 SOCS2
12 negative regulation of cell-cell adhesion GO:0022408 9.62 JAK2 ABL1
13 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.61 STAT5B STAT5A JAK2
14 growth hormone receptor signaling pathway GO:0060396 9.59 SOCS2 JAK2
15 interleukin-35-mediated signaling pathway GO:0070757 9.58 JAK2 JAK1
16 interleukin-27-mediated signaling pathway GO:0070106 9.58 JAK2 JAK1
17 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.58 SOCS3 JAK2 JAK1
18 thrombopoietin-mediated signaling pathway GO:0038163 9.57 THPO MPL
19 taurine metabolic process GO:0019530 9.56 STAT5B STAT5A
20 erythropoietin-mediated signaling pathway GO:0038162 9.54 EPOR EPO
21 interleukin-15-mediated signaling pathway GO:0035723 9.54 STAT5B STAT5A JAK1
22 interleukin-2-mediated signaling pathway GO:0038110 9.5 STAT5B STAT5A JAK1
23 interleukin-7-mediated signaling pathway GO:0038111 9.46 STAT5B STAT5A SOCS2 JAK1
24 interleukin-9-mediated signaling pathway GO:0038113 9.43 STAT5B STAT5A JAK1
25 JAK-STAT cascade GO:0007259 9.35 STAT5B STAT5A SOCS3 SOCS2 JAK2
26 cytokine-mediated signaling pathway GO:0019221 9.23 STAT5B STAT5A SOCS3 MPL JAK2 JAK1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.19 U2AF1 TET2 STAT5B STAT5A SOCS3 SOCS2
2 1-phosphatidylinositol-3-kinase regulator activity GO:0046935 9.16 SOCS3 SOCS2
3 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.13 JAK2 JAK1 ABL1
4 growth hormone receptor binding GO:0005131 8.8 SOCS2 JAK2 JAK1

Sources for Primary Polycythemia

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
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