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MCID: PRM012
MIFTS: 58

Primary Polycythemia

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases
Genes Variations 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 43 29 6 71 32
Primary Familial Polycythemia 43
Benign Familial Polycythemia 43
Congenital Erythrocytosis 43
Hereditary Erythrocytosis 43
Erythrocytosis, Familial 54
Familiar Polycythemia 12
Familial Polycythemia 43
Polycythemia Vera 71

Classifications:

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


External Ids:

Disease Ontology 12 DOID:10780
ICD9CM 34 289.6
NCIt 50 C26955
SNOMED-CT 67 267571003
ICD10 32 D75.0
UMLS 71 C0032463 C0152264
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Summaries for Primary Polycythemia

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MedlinePlus Genetics : 43 Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.

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 Cytokine Signaling in Immune system. The drugs Panobinostat and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include myeloid, heart and bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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

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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 87)
# Related Disease Score Top Affiliating Genes
1 polycythemia vera 31.7 STAT5A SOCS3 JAK2 IL3 EPOR EPO
2 erythrocytosis, familial, 3 31.7 EGLN1 BPGM
3 erythrocytosis, familial, 1 31.2 STAT5A JAK2 IL3 EPOR EPO EGLN1
4 erythrocytosis, familial, 4 31.1 VHL EPOR EPAS1 EGLN1 BPGM
5 erythrocytosis, familial, 8 31.0 JAK2 EPOR EIF5B EGLN1 BPGM
6 neutrophilia, hereditary 29.9 JAK2 IL3
7 autosomal dominant secondary polycythemia 29.9 EPO EPAS1 EGLN1
8 thrombocytosis 29.8 JAK2 IL3 EPO
9 beta-thalassemia 29.6 JAK2 IL3 EPOR EPO
10 paraganglioma 29.6 VHL HIF1A EPAS1 EGLN1
11 acquired polycythemia 29.2 JAK2 EPOR EPO EPAS1 EGLN1 BPGM
12 myelofibrosis 29.2 STAT5A SOCS3 JAK2 IL3 EPOR EPO
13 myeloproliferative neoplasm 29.1 STAT5A SOCS3 SOCS2 JAK2 IL3 EPOR
14 leukemia, chronic myeloid 29.0 STAT5A SOCS3 SOCS2 JAK2 IL3 EPOR
15 von hippel-lindau syndrome 28.9 VHL HIF1A EPAS1 ELOB EGLN1
16 hypoxia 28.5 VHL HIF1A EPAS1 EGLN3 EGLN2 EGLN1
17 erythrocytosis, familial, 2 28.2 VHL JAK2 HIF1A EPOR EPO EPAS1
18 polycythemia 28.2 VHL STAT5A JAK2 IL3 HIF1A EPOR
19 erythrocytosis, familial, 5 11.0
20 erythrocytosis, familial, 6 11.0
21 erythrocytosis, familial, 7 11.0
22 progressive myoclonus epilepsy 9 10.3 EPOR EPO
23 anemia of prematurity 10.3 EPOR EPO
24 sporadic pheochromocytoma/secreting paraganglioma 10.2 VHL EPAS1
25 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.2 JAK2 EPO
26 neonatal anemia 10.2 EPOR EPO
27 myelophthisic anemia 10.2 JAK2 EPO
28 duodenal somatostatinoma 10.2 EPAS1 EGLN1
29 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.2 STAT5A IL3
30 refractory anemia 10.2 JAK2 EPO
31 acquired color blindness 10.1 EPO EIF5B
32 acute erythroid leukemia 10.1 JAK2 EPOR EPO
33 retinitis pigmentosa and erythrocytic microcytosis 10.1 JAK2 IL3 EPO
34 acute megakaryocytic leukemia 10.1 JAK2 IL3 EPOR
35 plethora of newborn 10.1 EPO EPAS1 EGLN1
36 fumarate hydratase deficiency 10.1 VHL HIF1A
37 mastocytosis 10.1 STAT5A JAK2 IL3
38 esophagus carcinoma in situ 10.1 HIF1A EPO
39 inflammatory bowel disease 27 10.1 HIF1A EPO
40 blood platelet disease 10.0 JAK2 IL3 EPO
41 lumbosacral lipoma 10.0 HIF1A EPOR EPO
42 placental insufficiency 10.0 SOCS3 SOCS2 HIF1A
43 blood coagulation disease 10.0 JAK2 IL3 EPO
44 persistent generalized lymphadenopathy 10.0 EPAS1 EGLN1
45 chronic mountain sickness 9.9 EPO EPAS1 EGLN3
46 acute mountain sickness 9.9 VHL HIF1A EGLN1
47 bone marrow cancer 9.9 STAT5A JAK2 IL3 EPO
48 erythropoietin polycythemia 9.9
49 neuropathy 9.9
50 neutropenia 9.9 STAT5A JAK2 IL3 EPO

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
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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:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.29 EGLN1 EGLN2 EGLN3 EIF5B EPAS1 EPOR
2 hematopoietic system MP:0005397 10.27 EGLN1 EGLN2 EGLN3 EPAS1 EPO EPOR
3 embryo MP:0005380 10.26 EGLN1 EGLN2 EGLN3 EIF5B EPAS1 EPO
4 homeostasis/metabolism MP:0005376 10.26 EGLN1 EGLN2 EGLN3 EPAS1 EPO EPOR
5 cardiovascular system MP:0005385 10.25 EGLN1 EGLN2 EGLN3 EPAS1 EPO EPOR
6 cellular MP:0005384 10.24 EGLN1 EGLN2 EGLN3 EPO EPOR HIF1A
7 immune system MP:0005387 10.23 EGLN1 EGLN2 EGLN3 EPAS1 EPO EPOR
8 liver/biliary system MP:0005370 10.15 EGLN1 EGLN2 EGLN3 EPAS1 EPO EPOR
9 integument MP:0010771 10.13 EGLN1 EGLN2 EGLN3 EPO HIF1A JAK2
10 mortality/aging MP:0010768 10.06 EGLN1 EGLN3 EIF5B EPAS1 EPO EPOR
11 limbs/digits/tail MP:0005371 9.88 EGLN2 EGLN3 EPO HIF1A SOCS2 VHL
12 muscle MP:0005369 9.8 EGLN1 EGLN2 EGLN3 EPAS1 EPO HIF1A
13 normal MP:0002873 9.76 EGLN3 EPO EPOR HIF1A JAK2 SOCS3
14 respiratory system MP:0005388 9.56 EGLN1 EPAS1 EPO EPOR HIF1A JAK2
15 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 213)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
2
Lactitol Approved, Investigational Phase 4 585-86-4 157355
3 Histone Deacetylase Inhibitors Phase 4
4
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
5
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
6
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 468682 2826718
7
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
8
Pomalidomide Approved Phase 3 19171-19-8
9
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
10
Morphine Approved, Investigational Phase 3 57-27-2 5288826
11
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
12
Pipobroman Approved Phase 3 54-91-1 4842
13
Lenalidomide Approved Phase 3 191732-72-6 216326
14
Sodium citrate Approved, Investigational Phase 3 68-04-2
15
Peginterferon alfa-2b Approved Phase 3 215647-85-1, 99210-65-8
16
Melphalan Approved Phase 3 148-82-3 4053 460612
17
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
18
Hydroxyurea Approved Phase 3 127-07-1 3657
19
Iron Approved Phase 3 7439-89-6 23925 29936
20
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
21
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
22
tannic acid Approved Phase 3 1401-55-4
23
Danazol Approved Phase 3 17230-88-5 28417
24
Mercaptopurine Approved Phase 3 50-44-2 667490
25
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
26
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
27
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
28 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
29 Anesthetics, Dissociative Phase 3
30 Excitatory Amino Acid Antagonists Phase 3
31 Etoposide phosphate Phase 2, Phase 3
32 Mitogens Phase 3
33 Liver Extracts Phase 3
34 Cola Phase 3
35 Amebicides Phase 3
36 Liposomal amphotericin B Phase 3
37 Angiogenesis Inhibitors Phase 3
38 Respiratory System Agents Phase 3
39 Antitussive Agents Phase 3
40 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
41 Protein Kinase Inhibitors Phase 3
42 Hormones Phase 3
43 Hormone Antagonists Phase 3
44 Hepcidins Phase 3
45 Citrate Phase 3
46 N-(cyanomethyl)-4-(2-((4-(4-morpholinyl)phenyl)amino)-4-pyrimidinyl)benzamide Phase 3
47 Androgens Phase 2, Phase 3
48 Estrogen Antagonists Phase 3
49 Estrogens Phase 3
50 Estrogen Receptor Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 255)
# 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 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
4 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
5 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
6 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
7 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
8 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 An Open-label, Single Arm, Phase III Study to Assess the Self-administration of AOP2014 Using a Pre-filled Pen, Developed for the Treatment of Polycythemia Vera Patients Completed NCT02523638 Phase 3 Pegylated-Proline-Interferon alpha-2b in a Pre-filled Pen
17 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
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 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
20 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
21 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
22 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
23 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
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 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
26 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)
27 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
28 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)
29 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
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 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)
33 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
34 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
35 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
36 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)
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 Not yet recruiting NCT04717414 Phase 3 ACE-536
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 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
40 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
41 A Phase II Trial of Allogeneic Peripheral Blood Stem Cell Transplantation From Matched Unrelated Donors in Patients With Advanced Hematologic Malignancies and Hematological Disorders Unknown status NCT00544115 Phase 2 busulfan;cyclophosphamide;cyclosporine;etoposide;fludarabine phosphate;melphalan;methotrexate;mycophenolate mofetil;sirolimus;tacrolimus
42 A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia. Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
43 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
44 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)
45 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
46 Allogeneic Hematopoietic Cell Transplantation for Patients With Hematologic Disorders Who Are Undergoing Dose-Adjusted Treatment With A Maximally Intensive Busulfex-Based Therapeutic Regimen Completed NCT00448357 Phase 1, Phase 2 busulfan;fludarabine phosphate;tacrolimus;methotrexate
47 A Phase I/II Non-Myeloablative Allogeneic Hematopoietic Stem Cell Transplant for the Treatment of Patients With Hematologic Malignancies Using Busulfan, Fludarabine and Total Body Irradiation Completed NCT00245037 Phase 1, Phase 2 busulfan;cyclosporine;fludarabine phosphate;mycophenolate mofetil;Granulocyte colony-stimulating factor (G-CSF);Phenytoin;Methotrexate
48 A Phase I/II Study of Immunologically Engineered rhG-CSF Mobilized Peripheral Blood Stem Cells (PBSC) for Allogeneic Transplant From HLA Identical, Related Donors for Treatment of Myeloid Malignancies Completed NCT00049634 Phase 1, Phase 2 busulfan;cyclophosphamide;cyclosporine;methotrexate
49 Allogeneic Bone Marrow Transplantation for Hematologic Malignancies: A Treatment Approach Based on Risk of Relapse and Toxicity Completed NCT00005797 Phase 2 busulfan;Cyclophosphamide;VP-16
50 A Phase I/II Combination Study of Topotecan, Fludarabine, Cytosine Arabinoside and G-CSF (T-FLAG) Induction Therapy in Patients With Poor Prognosis AML, MDS and Relapsed/Refractory ALL Followed by Maintenance of Either PBSC Transplant or 13 Cis-Retinoic Acid Completed NCT00003619 Phase 1, Phase 2 busulfan;cytarabine;etoposide;fludarabine phosphate;isotretinoin;topotecan hydrochloride

Search NIH Clinical Center for Primary Polycythemia

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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

Genetic Tests for Primary Polycythemia

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Genetic tests related to Primary Polycythemia:

# Genetic test Affiliating Genes
1 Familial Erythrocytosis 29
Sources

Anatomical Context for Primary Polycythemia

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MalaCards organs/tissues related to Primary Polycythemia:

40
Myeloid, Heart, Bone, Bone Marrow, Liver, T Cells
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Publications for Primary Polycythemia

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Articles related to Primary Polycythemia:

(show top 50) (show all 148)
# Title Authors PMID Year
1
Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis. 54 61
19494350 2009
2
PHD2 mutation and congenital erythrocytosis with paraganglioma. 61 54
19092153 2008
3
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 54
17933562 2008
4
Oxygen sensing: recent insights from idiopathic erythrocytosis. 61 54
16687917 2006
5
A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. 61 54
11929803 2002
6
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. 54 61
10498627 1999
7
A human erythropoietin receptor gene mutant causing familial erythrocytosis is associated with deregulation of the rates of Jak2 and Stat5 inactivation. 61 54
9923445 1999
8
Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. 54 61
9649565 1998
9
Physiology and function of the erythropoietin receptor. 54 61
9664155 1998
10
Erythrocytosis due to a mutation in the erythropoietin receptor gene. 61 54
9488636 1998
11
Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias. 54 61
9292543 1997
12
Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. 61 54
7795221 1995
13
The molecular physiology of erythropoietin and the erythropoietin receptor. 54 61
9371269 1994
14
Periodontal management in a primary polycythemia rubra vera patient: A case report. 61
33125720 2021
15
Erythrocytosis: genes and pathways involved in disease development. 61
33370224 2020
16
[A case of familial erythrocytosis type 2 caused by VHL gene mutation]. 61
33445856 2020
17
A 38-Year-Old Man With Well Treated OSA on CPAP With Persistent Nocturnal Hypoxemia. 61
31916968 2020
18
Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases. 61
31376207 2019
19
Recurrent cerebral venous sinus thrombosis in a young man- A case report of JAK2-negative polycythemia vera. 61
31742182 2019
20
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
21
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis. 61
30507031 2019
22
Singular case of osteolytic lesions revealing transformation of myeloproliferative syndrome to acute leukemia. 61
30471421 2019
23
The role of 18F-FDG PET in the assessment of a benign hematological disorder: polycythemia. 61
30843002 2019
24
[Cytopenia under topical imiquimod in two patients treated with oral hydroxyurea]. 61
30217687 2018
25
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. 61
29891534 2018
26
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. 61
29514032 2018
27
From anemia to polycythemia in 4 weeks. 61
28878919 2017
28
EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis. 61
27292716 2016
29
Structural basis for oxygen degradation domain selectivity of the HIF prolyl hydroxylases. 61
27561929 2016
30
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
31
Idiopathic erythrocytosis: a study of a large cohort with a long follow-up. 61
26547864 2016
32
Somatic JAK-2 V617F Mutational Analysis in Polycythemia Rubra Vera: a Tertiary Care Center Experience. 61
27039724 2016
33
[Acute sectorial choroidal ischemia secondary to primary polycythemia vera]. 61
26144591 2015
34
Endovascular stent graft repair of thoracic aortic mural thrombus in a patient with polycythemia vera: a word of caution. 61
24569113 2015
35
A rare case of large aortopulmonary window with Eisenmenger syndrome and adult survival. 61
30534241 2014
36
Linking tissues to phenotypes using gene expression profiles. 61
24634472 2014
37
Genetic basis of congenital erythrocytosis: mutation update and online databases. 61
24115288 2014
38
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range. 61
23716564 2013
39
Regulation of erythropoiesis by hypoxia-inducible factors. 61
23291219 2013
40
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
41
Familial secondary erythrocytosis due to increased oxygen affinity is caused by destabilization of the T state of hemoglobin Brigham (α₂β₂(Pro100Leu)). 61
22821886 2012
42
Clinical utility gene card for: familial erythrocytosis. 61
22274579 2012
43
Why does my patient have erythrocytosis? 61
22463827 2012
44
[Clinical application of professor MA Rou's experience in treating hematological disease by arsenic-containing Chinese herbal medicine]. 61
21910353 2011
45
Identification of JAK2 mutations in canine primary polycythemia. 61
21320566 2011
46
Cerebral Venous Thrombosis and Venous Infarction: Case Report of a Rare Initial Presentation of Smoker's Polycythemia. 61
21151631 2010
47
[Molecular markers in hematology and oncology]. 61
20859878 2010
48
Spontaneous erythrocytosis in a patient on chronic hemodialysis. 61
19775422 2009
49
[Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis]. 61
19915370 2009
50
Subacute intestinal obstruction associated with a case of polycythemia vera--a rare combination. 61
19757706 2009
Sources

Variations for Primary Polycythemia

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ClinVar genetic disease variations for Primary Polycythemia:

6 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EGLN1 NM_022051.2(EGLN1):c.1217-23dup Duplication Uncertain significance 296184 rs371155853 1:231502230-231502231 1:231366484-231366485
2 EPAS1 NM_001430.5(EPAS1):c.1035-6del Deletion Uncertain significance 336257 rs757409274 2:46603666-46603666 2:46376527-46376527
3 EGLN1 NM_022051.2(EGLN1):c.*555_*559del Deletion Uncertain significance 296176 rs886046105 1:231501598-231501602 1:231365852-231365856
4 EGLN1 NM_022051.2(EGLN1):c.*1965A>G SNV Uncertain significance 296150 rs185322052 1:231500192-231500192 1:231364446-231364446
5 EPAS1 NM_001430.5(EPAS1):c.218-11_218-10insG Insertion Uncertain significance 336240 rs142684263 2:46583279-46583280 2:46356140-46356141
6 EPAS1 NM_001430.5(EPAS1):c.*715_*716AG[1] Microsatellite Uncertain significance 336298 rs886056096 2:46612514-46612515 2:46385375-46385376
7 EPAS1 NM_001430.5(EPAS1):c.-472G>A SNV Uncertain significance 336218 rs886056075 2:46524579-46524579 2:46297440-46297440
8 EGLN1 NM_022051.2(EGLN1):c.*1428_*1429del Deletion Uncertain significance 296159 rs886046098 1:231500728-231500729 1:231364982-231364983
9 EGLN1 NM_022051.2(EGLN1):c.*1415_*1419delATTTT Microsatellite Uncertain significance 296160 rs886046099 1:231500738-231500742 1:231364992-231364996
10 EPAS1 NM_001430.5(EPAS1):c.*680dup Duplication Uncertain significance 336296 rs886056094 2:46612473-46612474 2:46385334-46385335
11 EGLN1 NM_022051.2(EGLN1):c.-1661_-1660del Deletion Uncertain significance 296226 rs886046126 1:231559294-231559295 1:231423548-231423549
12 EPAS1 NM_001430.5(EPAS1):c.218-10_218-9insTC Insertion Uncertain significance 336239 rs1553394835 2:46583279-46583280 2:46356140-46356141
13 EPAS1 NM_001430.5(EPAS1):c.*733C>G SNV Uncertain significance 336299 rs886056097 2:46612532-46612532 2:46385393-46385393
14 EGLN1 NM_022051.2(EGLN1):c.*261_*263del Deletion Uncertain significance 296181 rs886046108 1:231501894-231501896 1:231366148-231366150
15 EPOR NM_000121.4(EPOR):c.*186_*187dup Duplication Uncertain significance 328136 rs528356712 19:11488472-11488473 19:11377796-11377797
16 EPAS1 NM_001430.5(EPAS1):c.*540del Deletion Uncertain significance 336292 rs75932330 2:46612327-46612327 2:46385188-46385188
17 EGLN1 NM_022051.2(EGLN1):c.*1802_*1803dup Duplication Uncertain significance 296154 rs541569859 1:231500353-231500354 1:231364607-231364608
18 EGLN1 NM_022051.2(EGLN1):c.*1434_*1436del Deletion Likely benign 296158 rs201012894 1:231500721-231500723 1:231364975-231364977
19 EPAS1 NM_001430.5(EPAS1):c.*1040_*1041insG Insertion Likely benign 336305 rs111426869 2:46612839-46612840 2:46385700-46385701
20 EPAS1 NM_001430.5(EPAS1):c.218-14_218-13insG Insertion Likely benign 336236 rs781736017 2:46583276-46583277 2:46356137-46356138
21 EPAS1 NM_001430.5(EPAS1):c.*1247dup Duplication Likely benign 336310 rs546029479 2:46613042-46613043 2:46385903-46385904
22 EPAS1 NM_001430.5(EPAS1):c.218-8_218-7dup Duplication Likely benign 336244 rs1553394876 2:46583281-46583282 2:46356142-46356143
23 EPAS1 NM_001430.5(EPAS1):c.*814dup Duplication Likely benign 336301 rs200260946 2:46612609-46612610 2:46385470-46385471
24 EGLN1 NM_022051.2(EGLN1):c.-1632_-1631delAG Microsatellite Likely benign 296225 rs145140638 1:231559265-231559266 1:231423519-231423520
25 EGLN1 NM_022051.2(EGLN1):c.*1236_*1237insTG Insertion Likely benign 296162 rs564384828 1:231500920-231500921 1:231365174-231365175
26 EGLN1 NM_022051.2(EGLN1):c.*2416_*2419del Deletion Likely benign 296144 rs574848765 1:231499738-231499741 1:231363992-231363995
27 EGLN1 NM_022051.2(EGLN1):c.-2689_-2686del Deletion Likely benign 296244 rs577920148 1:231560320-231560323 1:231424574-231424577
28 EPAS1 NM_001430.5(EPAS1):c.*1746G>A SNV Likely benign 336320 rs540911183 2:46613545-46613545 2:46386406-46386406
29 EGLN1 NM_022051.2(EGLN1):c.-1296T>G SNV Likely benign 296221 rs568496391 1:231558930-231558930 1:231423184-231423184
30 EPAS1 NM_001430.5(EPAS1):c.2045+8dup Duplication Likely benign 336271 rs557111154 2:46607862-46607863 2:46380723-46380724
31 EGLN1 NM_022051.2(EGLN1):c.*768_*772delGTTTT Microsatellite Likely benign 296171 rs576306593 1:231501385-231501389 1:231365639-231365643
32 EPOR NM_000121.3(EPOR):c.-133T>G SNV Likely benign 328160 rs147119630 19:11495016-11495016 19:11384340-11384340
33 EPAS1 NM_001430.5(EPAS1):c.*703_*706dup Duplication Benign 336297 rs139377540 2:46612500-46612501 2:46385361-46385362
34 EGLN1 NM_022051.2(EGLN1):c.*648del Deletion Benign 296173 rs149920332 1:231501509-231501509 1:231365763-231365763
35 EGLN1 NM_022051.2(EGLN1):c.1217-10del Deletion Benign 296185 rs371155853 1:231502231-231502231 1:231366485-231366485
36 EGLN1 NM_022051.2(EGLN1):c.-3142dup Duplication Benign 296251 rs111995599 1:231560775-231560776 1:231425029-231425030
37 EPAS1 NM_001430.5(EPAS1):c.-341dup Duplication Benign 336221 rs149642079 2:46524700-46524701 2:46297561-46297562
38 EPAS1 NM_001430.5(EPAS1):c.-58dup Duplication Benign 336232 rs200720368 2:46524987-46524988 2:46297848-46297849
39 EPAS1 NM_001430.5(EPAS1):c.218-9_218-8insT Insertion Benign 336245 rs35508970 2:46583281-46583282 2:46356142-46356143
40 EPAS1 NM_001430.5(EPAS1):c.*539_*540del Deletion Benign 336293 rs75932330 2:46612327-46612328 2:46385188-46385189
Sources

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 40)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 63
Show member pathways
 13.46 STAT5A SOCS3 SOCS2 JAK2 IL3 EPOR
2
Cytokine Signaling in Immune system 65
Show member pathways
 13.26 STAT5A SOCS3 SOCS2 JAK2 IL3 HIF1A
3
Cellular Senescence (REACTOME) 65
Show member pathways
 13.03 VHL HIF1A EPO EPAS1 ELOB EGLN3
4
Relaxin signaling pathway 36
Show member pathways
 12.58 STAT5A SOCS3 SOCS2 JAK2
5
Th17 cell differentiation 36
Show member pathways
 12.5 STAT5A SOCS3 JAK2 HIF1A
6
NF-kappaB Signaling 4
12.5 STAT5A SOCS3 SOCS2 JAK2 IL3
7
Immune response IL-23 signaling pathway 23
Show member pathways
 12.49 STAT5A SOCS3 JAK2 EPAS1
8
Prolactin Signaling Pathway 1 36
Show member pathways
 12.4 STAT5A SOCS3 SOCS2 JAK2
9
ErbB signaling pathway 36 1
Show member pathways
 12.36 VHL STAT5A JAK2 HIF1A EPAS1 ELOB
10
JAK-STAT signaling pathway 36
Show member pathways
 12.31 STAT5A SOCS3 SOCS2 JAK2 IL3 EPOR
11
Pathways in cancer 36
12.13 VHL STAT5A JAK2 IL3 HIF1A EPOR
12
Kit receptor signaling pathway 1
Show member pathways
 12.1 STAT5A JAK2 IL3 EPOR EPO
13
IL-2 Signaling Pathway 1
Show member pathways
 12.02 STAT5A SOCS3 SOCS2 JAK2
14
Ubiquitin mediated proteolysis 36
12 VHL SOCS3 ELOB
15
Adipogenesis 1
12 STAT5A SOCS3 HIF1A EPAS1
16
Signaling by PTK6 65
Show member pathways
 11.96 SOCS3 HIF1A EPAS1
17
Interleukin-4 and 13 signaling 65
11.89 SOCS3 JAK2 HIF1A
18
HIF-1 signaling pathway 36
11.84 VHL HIF1A EPO ELOB EGLN3 EGLN2
19
Visual Cycle in Retinal Rods 63
11.82 STAT5A SOCS3 JAK2
20
Hematopoietic cell lineage 36
11.82 IL3 EPOR EPO
21
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.79 VHL HIF1A EPAS1
22
Development EPO-induced Jak-STAT pathway 23
Show member pathways
 11.79 STAT5A SOCS3 JAK2 EPOR EPO
23
Immune response IL-2 activation and signaling pathway 23
Show member pathways
 11.78 STAT5A SOCS3 JAK2 IL3
24
AGE/RAGE pathway 1
11.63 STAT5A JAK2 HIF1A
25
HIF-1-alpha transcription factor network 1
11.62 HIF1A EPO EGLN3 EGLN1
26
IL4-mediated signaling events 1
11.61 STAT5A SOCS3 JAK2
27
HIF1Alpha Pathway 63
11.53 VHL HIF1A EPO ELOB EGLN2 EGLN1
28
Signaling events mediated by PTP1B 1
11.5 STAT5A SOCS3 JAK2
29
Hematopoietic Stem Cell Differentiation 1
11.47 STAT5A IL3 EPO
30
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.43 JAK2 EPOR EPO
31
Photodynamic therapy-induced HIF-1 survival signaling 1
11.35 HIF1A EPO EGLN1
32
Growth hormone receptor signaling 65
Show member pathways
 11.35 STAT5A SOCS3 SOCS2 JAK2
33
HIF Repressor Pathways 64
Show member pathways
 11.33 HIF1A EPAS1 EGLN3
34
Development_Leptin signaling via JAK/STAT and MAPK cascades 23
Show member pathways
 11.22 SOCS3 JAK2 HIF1A
35
Immune response_IL-12 signaling pathway 23
Show member pathways
 11.2 STAT5A SOCS3 JAK2
36
IL10 Signaling Pathway 66
11.19 SOCS3 SOCS2 JAK2
37
HIF-2-alpha transcription factor network 1
11.03 VHL EPO EPAS1 ELOB EGLN3 EGLN2
38
Immune response_Oncostatin M signaling via JAK-Stat in human cells 23
10.99 STAT5A SOCS3 JAK2
39
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
10.9 VHL EPAS1
40
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha 1
10.88 VHL HIF1A 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 9.4 VHL STAT5A SOCS3 SOCS2 JAK2 HIF1A
2 phosphatidylinositol 3-kinase complex GO:0005942 8.96 SOCS3 SOCS2

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

(show all 31)
# 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 9.95 VHL SOCS3 SOCS2 HIF1A EPAS1 ELOB
3 post-translational protein modification GO:0043687 9.85 VHL SOCS3 SOCS2 HIF1A EPAS1 ELOB
4 cytokine-mediated signaling pathway GO:0019221 9.8 STAT5A SOCS3 JAK2 IL3 HIF1A EPOR
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 9.73 SOCS3 JAK2 IL3 EPO
7 erythrocyte differentiation GO:0030218 9.72 JAK2 EPO EPAS1
8 positive regulation of cell differentiation GO:0045597 9.71 VHL SOCS3 JAK2
9 lactation GO:0007595 9.7 STAT5A SOCS2 HIF1A
10 positive regulation of Ras protein signal transduction GO:0046579 9.67 JAK2 EPOR EPO
11 regulation of multicellular organism growth GO:0040014 9.65 STAT5A SOCS2
12 regulation of neuron apoptotic process GO:0043523 9.65 EGLN3 EGLN2
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 interleukin-6-mediated signaling pathway GO:0070102 9.64 SOCS3 JAK2
16 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.63 SOCS3 SOCS2
17 embryonic hemopoiesis GO:0035162 9.63 IL3 HIF1A
18 negative regulation of JAK-STAT cascade GO:0046426 9.63 VHL SOCS3 SOCS2
19 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.62 STAT5A JAK2
20 positive regulation of signaling receptor activity GO:2000273 9.62 JAK2 HIF1A
21 growth hormone receptor signaling pathway GO:0060396 9.61 SOCS2 JAK2
22 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.61 SOCS3 JAK2
23 oxygen homeostasis GO:0032364 9.58 HIF1A EGLN1
24 regulation of protein neddylation GO:2000434 9.58 HIF1A EPAS1
25 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.58 EGLN3 EGLN2 EGLN1
26 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.57 HIF1A EPAS1
27 hemoglobin biosynthetic process GO:0042541 9.56 HIF1A EPO
28 erythropoietin-mediated signaling pathway GO:0038162 9.51 EPOR EPO
29 JAK-STAT cascade GO:0007259 9.46 STAT5A SOCS3 SOCS2 JAK2
30 response to hypoxia GO:0001666 9.43 HIF1A EPO EPAS1 EGLN3 EGLN2 EGLN1
31 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.23 VHL HIF1A EPO EPAS1 ELOB EGLN3

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.65 EGLN3 EGLN2 EGLN1
2 dioxygenase activity GO:0051213 9.61 EGLN3 EGLN2 EGLN1
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.54 EGLN3 EGLN2 EGLN1
4 ferrous iron binding GO:0008198 9.5 EGLN3 EGLN2 EGLN1
5 1-phosphatidylinositol-3-kinase regulator activity GO:0046935 9.46 SOCS3 SOCS2
6 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
7 growth hormone receptor binding GO:0005131 9.4 SOCS2 JAK2
8 L-ascorbic acid binding GO:0031418 9.33 EGLN3 EGLN2 EGLN1
9 peptidyl-proline dioxygenase activity GO:0031543 9.13 EGLN3 EGLN2 EGLN1
10 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
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-Mar-2021)
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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