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MCID: PRM012
MIFTS: 50

Primary Polycythemia

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

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MalaCards integrated aliases for Primary Polycythemia:

Name: Primary Polycythemia 12 15
Familial Erythrocytosis 12 71
Familiar Polycythemia 12
Polycythemia Vera 71

Classifications:

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


External Ids:

Disease Ontology 12 DOID:10780
ICD9CM 34 289.6
NCIt 49 C26955
SNOMED-CT 67 17342003
ICD10 32 D75.0
UMLS 71 C0032463 C0152264
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Summaries for Primary Polycythemia

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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 polycythemia vera and erythrocytosis, familial, 3, 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 TGF-Beta Pathway and Cellular Senescence (REACTOME). The drugs Panobinostat and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include myeloid, t cells and bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 polycythemia vera 33.0 SOCS3 JAK2 IL3 EPOR EPO
2 erythrocytosis, familial, 3 32.1 EPOR EGLN1 BPGM
3 erythrocytosis, familial, 1 32.1 VHL JAK2 IL3 EPOR EPO EGLN1
4 erythrocytosis, familial, 8 31.4 JAK2 EPOR EIF5B EGLN1 BPGM
5 erythrocytosis, familial, 4 31.4 VHL EPOR EPAS1 EGLN1 BPGM
6 autosomal dominant secondary polycythemia 30.2 EPO EPAS1 EGLN1
7 myelofibrosis 29.4 SOCS3 JAK2 IL3 EPOR EPO
8 myeloproliferative neoplasm 29.2 SOCS3 SOCS2 JAK2 IL3 EPOR EPO
9 acquired polycythemia 29.2 JAK2 EPOR EPO EPAS1 EGLN1 BPGM
10 leukemia, chronic myeloid 29.1 SOCS3 SOCS2 JAK2 IL3 EPOR EPO
11 beta-thalassemia 29.1 JAK2 IL3 EPOR EPO ACO1
12 hypoxia 28.6 VHL HIF1A EPAS1 EGLN3 EGLN2 EGLN1
13 von hippel-lindau syndrome 28.3 VHL HIF1A ELOC ELOB
14 polycythemia 28.3 VHL JAK2 IL3 HIF1A EPOR EPO
15 erythrocytosis, familial, 2, autosomal recessive 27.9 VHL HIF1A EPOR EPO EPAS1 ELOC
16 erythrocytosis, familial, 5 11.2
17 erythrocytosis, familial, 6 11.2
18 erythrocytosis, familial, 7 11.2
19 progressive myoclonus epilepsy 9 10.4 EPOR EPO
20 anemia of prematurity 10.4 EPOR EPO
21 duodenal somatostatinoma 10.3 EPAS1 EGLN1
22 sporadic pheochromocytoma/secreting paraganglioma 10.3 VHL EPAS1
23 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.3 JAK2 EPO
24 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.3 IL3 EPOR EPO
25 refractory anemia 10.2 IL3 EPO
26 erythroleukemia, familial 10.2 EPOR EPO
27 myelophthisic anemia 10.2 JAK2 EPO
28 plethora of newborn 10.2 EPO EPAS1 EGLN1
29 retinitis pigmentosa and erythrocytic microcytosis 10.2 JAK2 IL3 EPO
30 esophagus carcinoma in situ 10.2 HIF1A EPO
31 neonatal anemia 10.2 EPOR EPO
32 fumarate hydratase deficiency 10.2 VHL HIF1A
33 inflammatory bowel disease 27 10.2 HIF1A EPO
34 blood coagulation disease 10.1 JAK2 IL3 EPO
35 thrombocytosis 10.1 JAK2 IL3 EPO
36 blood platelet disease 10.1 JAK2 IL3 EPO
37 chronic mountain sickness 10.1 EPO EGLN3
38 megakaryocytic leukemia 10.1 JAK2 IL3 EPOR
39 neutrophilia, hereditary 10.1 JAK2 IL3
40 placental insufficiency 10.1 SOCS3 SOCS2 HIF1A
41 lumbosacral lipoma 10.1 HIF1A EPOR
42 bone marrow cancer 10.0 JAK2 IL3 EPO
43 pulmonary edema 10.0 HIF1A EPO EPAS1
44 acute mountain sickness 10.0 VHL HIF1A EGLN1
45 parathyroid gland disease 10.0 EPO EGLN2 EGLN1
46 pheochromocytoma-paraganglioma 10.0 VHL EGLN2 EGLN1
47 diamond-blackfan anemia 9.9 JAK2 IL3 EPOR EPO
48 erythropoietin polycythemia 9.9
49 neuropathy 9.9
50 paraganglioma 9.8 VHL HIF1A EPAS1 EGLN1

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
Sources

Symptoms & Phenotypes for Primary Polycythemia

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UMLS symptoms related to Primary Polycythemia:


fatigue, headache, dizziness, dyspnea on exertion

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.44 ELOB
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-140 9.44 EIF5B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.44 VHL
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 9.44 VHL
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 9.44 ELOB
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.44 HIF1A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.44 EIF5B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.44 HIF1A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-207 9.44 VHL
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.44 EIF5B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.44 ELOB
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.44 EIF5B
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.44 HIF1A

MGI Mouse Phenotypes related to Primary Polycythemia:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.23 ACO1 EGLN1 EGLN2 EGLN3 EPAS1 EPO
2 hematopoietic system MP:0005397 10.22 EGLN1 EGLN2 EGLN3 EPAS1 EPO EPOR
3 cardiovascular system MP:0005385 10.21 EGLN1 EGLN2 EGLN3 EPAS1 EPO EPOR
4 embryo MP:0005380 10.19 EGLN1 EGLN2 EGLN3 EPAS1 EPO EPOR
5 immune system MP:0005387 10.17 EGLN1 EGLN2 EGLN3 EPAS1 EPO EPOR
6 integument MP:0010771 10.06 EGLN1 EGLN2 EGLN3 EPO HIF1A JAK2
7 liver/biliary system MP:0005370 10.06 EGLN1 EGLN2 EGLN3 EPAS1 EPO EPOR
8 limbs/digits/tail MP:0005371 9.85 EGLN2 EGLN3 EPO HIF1A SOCS2 VHL
9 muscle MP:0005369 9.8 EGLN1 EGLN2 EGLN3 EPAS1 EPO HIF1A
10 normal MP:0002873 9.76 ACO1 EGLN3 EPO EPOR HIF1A JAK2
11 respiratory system MP:0005388 9.56 EGLN1 EPAS1 EPO EPOR HIF1A JAK2
12 skeleton MP:0005390 9.28 EGLN1 EGLN3 EPAS1 EPO HIF1A JAK2
Sources

Drugs & Therapeutics for Primary Polycythemia

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

(show top 50) (show all 231)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
2
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
3 Histone Deacetylase Inhibitors Phase 4
4
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
5
Pipobroman Approved Phase 3 54-91-1 4842
6
Lenalidomide Approved Phase 3 191732-72-6 216326
7
Pomalidomide Approved Phase 3 19171-19-8
8
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
9
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
10
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
11
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
12
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
13
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
14
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
15
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 2826718 468682
16
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
17
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
18
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
19
Hydroxyurea Approved Phase 3 127-07-1 3657
20
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
21
Mercaptopurine Approved Phase 3 50-44-2 667490
22
Danazol Approved Phase 3 17230-88-5 28417
23
Melphalan Approved Phase 3 148-82-3 460612 4053
24
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
25
tannic acid Approved Phase 3 1401-55-4
26
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
27
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
28
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
29 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
30 Anesthetics, Dissociative Phase 3
31 Angiogenesis Inhibitors Phase 3
32 Neurotransmitter Agents Phase 3
33 Analgesics Phase 3
34 Anti-Infective Agents Phase 3
35 Androgens Phase 3
36 Hormones Phase 3
37 Anti-Bacterial Agents Phase 3
38 Antifungal Agents Phase 3
39 Liver Extracts Phase 3
40 Etoposide phosphate Phase 2, Phase 3
41 Cola Phase 3
42 Analgesics, Opioid Phase 3
43 Psychotropic Drugs Phase 3
44 Anti-Anxiety Agents Phase 3
45 Antipsychotic Agents Phase 3
46 Antiprotozoal Agents Phase 3
47 Antiparasitic Agents Phase 3
48 Excitatory Amino Acid Antagonists Phase 3
49 Narcotics Phase 3
50 Anesthetics Phase 3

Interventional clinical trials:

(show top 50) (show all 291)
# Name Status NCT ID Phase Drugs
1 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
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 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
5 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
6 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
7 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)
8 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
9 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
10 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)
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 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
20 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
21 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 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)
30 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
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 Recruiting NCT04173494 Phase 3 Momelotinib;Danazol;Placebo to match momelotinib;Placebo to match danazol
32 French Aspirin Study in Essential Thrombocythemia: an Open and Randomized Study Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
33 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)
34 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
35 Safety and Efficacy of Ruxolitinib for COVID-19 Not yet recruiting NCT04348071 Phase 2, Phase 3 Ruxolitinib
36 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
37 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
38 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
39 A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia. Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
40 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
41 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)
42 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
43 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
44 A Phase II Trial of the Treatment of Polycythemia Vera With Gleevec Completed NCT01120821 Phase 2 Gleevec
45 Glivec (Imatinib Mesylate) in the Treatment of Polycythemia Vera Completed NCT00430066 Phase 2 Imatinib Mesylate
46 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
47 A Multi-national Open-label Phase II Study of the JAK Inhibitor INC424 in Patients With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis Completed NCT01392443 Phase 2 Ruxolitinib
48 A Phase 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
49 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
50 A Phase 2 Study of IPI-926 in Patients With Myelofibrosis Completed NCT01371617 Phase 2 IPI-926

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
Sources

Genetic Tests for Primary Polycythemia

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Sources

Anatomical Context for Primary Polycythemia

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MalaCards organs/tissues related to Primary Polycythemia:

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

Publications for Primary Polycythemia

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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
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
14
Structural basis for oxygen degradation domain selectivity of the HIF prolyl hydroxylases. 61
27561929 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
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
24
Regulation of erythropoiesis by hypoxia-inducible factors. 61
23291219 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
18450610 2008
41
The HIF2A gene in familial erythrocytosis. 61
18456917 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
Sources

Variations for Primary Polycythemia

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Expression for Primary Polycythemia

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Search GEO for disease gene expression data for Primary Polycythemia.
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Pathways for Primary Polycythemia

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

(show all 30)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 63
Show member pathways
 13.43 SOCS3 SOCS2 JAK2 IL3 EPOR EPO
2
Cellular Senescence (REACTOME) 65
Show member pathways
 13.01 VHL HIF1A EPO EPAS1 ELOC ELOB
3
ErbB signaling pathway 36 1
Show member pathways
 12.53 VHL JAK2 HIF1A EPAS1 ELOC ELOB
4
NF-kappaB Signaling 4
12.43 SOCS3 SOCS2 JAK2 IL3
5
JAK-STAT signaling pathway 36
Show member pathways
 12.31 SOCS3 SOCS2 JAK2 IL3 EPOR EPO
6
Pathways in cancer 36
12.13 VHL JAK2 IL3 HIF1A EPOR EPO
7
Kit receptor signaling pathway 1
Show member pathways
 12.08 JAK2 IL3 EPOR EPO
8
Ubiquitin mediated proteolysis 36
11.98 VHL SOCS3 ELOC ELOB
9
IL-2 Signaling Pathway 1
Show member pathways
 11.95 SOCS3 SOCS2 JAK2
10
Adipogenesis 1
11.94 SOCS3 HIF1A EPAS1
11
Signaling by PTK6 65
Show member pathways
 11.93 SOCS3 HIF1A EPAS1
12
Interleukin-4 and 13 signaling 65
11.86 SOCS3 JAK2 HIF1A
13
HIF-1 signaling pathway 36
11.8 VHL HIF1A EPO ELOC ELOB EGLN3
14
Hematopoietic cell lineage 36
11.78 IL3 EPOR EPO
15
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 11.77 SOCS3 JAK2 IL3
16
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.76 SOCS3 JAK2 EPOR EPO
17
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.74 VHL HIF1A EPAS1
18
HIF-1-alpha transcription factor network 1
11.57 HIF1A EPO EGLN3 EGLN1
19
HIF1Alpha Pathway 63
11.53 VHL HIF1A EPO ELOC ELOB EGLN2
20
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.4 JAK2 EPOR EPO
21
Growth hormone receptor signaling 65
Show member pathways
 11.35 SOCS3 SOCS2 JAK2
22
Photodynamic therapy-induced HIF-1 survival signaling 1
11.29 HIF1A EPO EGLN1
23
HIF Repressors 64
Show member pathways
 11.26 HIF1A EPAS1 EGLN3
24
Development_Leptin signaling via JAK/STAT and MAPK cascades 22
Show member pathways
 11.16 SOCS3 JAK2 HIF1A
25
IL10 Signaling Pathway 66
11.13 SOCS3 SOCS2 JAK2
26
HIF-2-alpha transcription factor network 1
11.09 VHL EPO EPAS1 ELOC ELOB EGLN3
27
Immune response_Oncostatin M signaling via JAK-Stat in human cells 22
10.91 SOCS3 JAK2
28
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
10.86 VHL EPAS1
29
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha 1
10.85 VHL HIF1A ELOC ELOB
30
Dual hijack model of Vif in HIV infection 1
10.55 ELOC ELOB
Sources

GO Terms for Primary Polycythemia

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.44 VHL SOCS3 SOCS2 JAK2 HIF1A EPAS1
2 phosphatidylinositol 3-kinase complex GO:0005942 9.26 SOCS3 SOCS2
3 elongin complex GO:0070449 9.16 ELOC ELOB
4 VCB complex GO:0030891 8.96 VHL ELOB

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.99 VHL SOCS3 SOCS2 HIF1A EPO
2 protein ubiquitination GO:0016567 9.91 VHL SOCS3 SOCS2 HIF1A EPAS1 ELOC
3 transcription by RNA polymerase II GO:0006366 9.9 HIF1A EPAS1 ELOC ELOB
4 cytokine-mediated signaling pathway GO:0019221 9.85 SOCS3 JAK2 IL3 HIF1A EPOR
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.78 JAK2 EPOR EPO
6 cellular iron ion homeostasis GO:0006879 9.74 HIF1A EGLN1 ACO1
7 positive regulation of cell differentiation GO:0045597 9.71 VHL SOCS3 JAK2
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.71 SOCS3 JAK2 IL3 EPO
9 erythrocyte differentiation GO:0030218 9.7 JAK2 EPO EPAS1
10 post-translational protein modification GO:0043687 9.7 VHL SOCS3 SOCS2 HIF1A EPAS1 ELOC
11 positive regulation of Ras protein signal transduction GO:0046579 9.67 JAK2 EPOR EPO
12 JAK-STAT cascade GO:0007259 9.65 SOCS3 SOCS2 JAK2
13 cellular response to hypoxia GO:0071456 9.65 HIF1A EPAS1 EGLN3 EGLN2 EGLN1
14 embryonic placenta development GO:0001892 9.64 HIF1A EPAS1
15 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.63 SOCS3 SOCS2
16 interleukin-6-mediated signaling pathway GO:0070102 9.63 SOCS3 JAK2
17 embryonic hemopoiesis GO:0035162 9.62 IL3 HIF1A
18 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.62 SOCS3 JAK2
19 growth hormone receptor signaling pathway GO:0060396 9.61 SOCS2 JAK2
20 negative regulation of JAK-STAT cascade GO:0046426 9.61 VHL SOCS3 SOCS2
21 positive regulation of receptor biosynthetic process GO:0010870 9.58 JAK2 HIF1A
22 oxygen homeostasis GO:0032364 9.58 HIF1A EGLN1
23 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.56 HIF1A EPAS1
24 hemoglobin biosynthetic process GO:0042541 9.55 HIF1A EPO
25 erythropoietin-mediated signaling pathway GO:0038162 9.51 EPOR EPO
26 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.5 EGLN3 EGLN2 EGLN1
27 response to hypoxia GO:0001666 9.43 HIF1A EPO EPAS1 EGLN3 EGLN2 EGLN1
28 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.28 VHL HIF1A EPO EPAS1 ELOC ELOB

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.27 VHL SOCS3 SOCS2 JAK2 HIF1A EPOR
2 iron ion binding GO:0005506 9.67 EGLN3 EGLN2 EGLN1
3 dioxygenase activity GO:0051213 9.63 EGLN3 EGLN2 EGLN1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.61 EGLN3 EGLN2 EGLN1
5 ferrous iron binding GO:0008198 9.5 EGLN3 EGLN2 EGLN1
6 1-phosphatidylinositol-3-kinase regulator activity GO:0046935 9.48 SOCS3 SOCS2
7 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors GO:0016706 9.43 EGLN3 EGLN2 EGLN1
8 growth hormone receptor binding GO:0005131 9.4 SOCS2 JAK2
9 L-ascorbic acid binding GO:0031418 9.33 EGLN3 EGLN2 EGLN1
10 peptidyl-proline dioxygenase activity GO:0031543 9.13 EGLN3 EGLN2 EGLN1
11 peptidyl-proline 4-dioxygenase activity GO:0031545 8.8 EGLN3 EGLN2 EGLN1
Sources

Sources for Primary 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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