MCID: PRM012
MIFTS: 53

Primary Polycythemia

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

Aliases & Classifications for Primary Polycythemia

MalaCards integrated aliases for Primary Polycythemia:

Name: Primary Polycythemia 12 14
Familial Erythrocytosis 12 24 28 69
Polycythemia, Primary Familial and Congenital 41
Primary Familial Polycythemia 24
Benign Familial Polycythemia 24
Congenital Erythrocytosis 24
Hereditary Erythrocytosis 24
Erythrocytosis, Familial 51
Familiar Polycythemia 12
Familial Polycythemia 24
Polycythemia Vera 69

Classifications:



External Ids:

Disease Ontology 12 DOID:10780
ICD10 32 D75.0
ICD9CM 34 289.6
MeSH 41 C536842
NCIt 46 C26955
UMLS 69 C0152264

Summaries for Primary Polycythemia

Genetics Home Reference : 24 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 erythrocytosis, familial, 2 and polycythemia vera, and has symptoms including dyspnea on exertion, headache and fatigue. An important gene associated with Primary Polycythemia is EPOR (Erythropoietin Receptor), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and PI3K-Akt signaling pathway. The drugs Zinc and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are embryo and cardiovascular system

Related Diseases for Primary Polycythemia

Diseases in the Polycythemia family:

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

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 erythrocytosis, familial, 2 32.0 EGLN1 EPAS1 EPO EPOR VHL
2 polycythemia vera 31.7 EPO EPOR IL3 JAK2
3 erythrocytosis, familial, 1 31.3 EPO EPOR IL3 JAK2
4 thrombocytosis 28.9 EPO IL3 JAK2
5 leukemia, chronic myeloid 28.6 EPO IL3 JAK2
6 polycythemia 27.5 EGLN1 EPAS1 EPO EPOR IL3 JAK2
7 erythrocytosis, familial, 3 12.3
8 erythrocytosis, familial, 4 12.3
9 autosomal dominant secondary polycythemia 10.1 EGLN1 EPAS1
10 neonatal anemia 10.1 EPO EPOR
11 ewing's family of tumors 10.1 EPO EPOR
12 congenital hemolytic anemia 9.9 EPO IL3
13 anemia of prematurity 9.9 EPO EPOR IL3
14 acute mountain sickness 9.9 EGLN1 VHL
15 sporadic pheochromocytoma 9.9 EPAS1 VHL
16 retinal hemangioblastoma 9.8 EPAS1 VHL
17 deficiency anemia 9.8 EPO EPOR IL3
18 clear cell renal cell carcinoma 9.8 EPAS1 VHL
19 splenomegaly 9.8 EPO JAK2
20 hemangioblastoma 9.7 EPO EPOR VHL
21 megakaryocytic leukemia 9.6 IL3 JAK2
22 hypoxia 9.6 EGLN1 EPAS1 VHL
23 acquired polycythemia 9.6 EPO EPOR JAK2
24 phosphatase, acid, of tissues 9.6
25 lymphoma, hodgkin, classic 9.6
26 lymphoma, non-hodgkin, familial 9.6
27 leukemia 9.6
28 lymphoma 9.6
29 allergic hypersensitivity disease 9.6
30 myeloid leukemia 9.6
31 acute erythroid leukemia 9.6 EPO EPOR JAK2
32 retinitis pigmentosa and erythrocytic microcytosis 9.6 EPO IL3 JAK2
33 refractory anemia 9.5 EPO IL3 JAK2
34 immune system disease 9.5 EPO IL3 JAK2
35 myelofibrosis 9.5 EPO IL3 JAK2
36 severe congenital neutropenia 9.4 IL3 JAK2
37 bone marrow cancer 9.3 EPO EPOR IL3 JAK2
38 essential thrombocythemia 9.3 EPO EPOR IL3 JAK2
39 diamond-blackfan anemia 9.3 EPO EPOR IL3 JAK2
40 myelodysplastic syndrome 9.2 EPO EPOR IL3 JAK2

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


Acquired Polycythemia Chronic Pulmonary Heart Disease
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Ischemic Heart Disease
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:


dyspnea on exertion, headache, fatigue, dizziness

MGI Mouse Phenotypes related to Primary Polycythemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.8 VHL EGLN1 EPAS1 EPO EPOR JAK2
2 cardiovascular system MP:0005385 9.77 VHL EGLN1 EPAS1 EPO EPOR
3 hematopoietic system MP:0005397 9.73 VHL EGLN1 EPAS1 EPO EPOR JAK2
4 immune system MP:0005387 9.63 JAK2 VHL EGLN1 EPAS1 EPO EPOR
5 liver/biliary system MP:0005370 9.43 VHL EGLN1 EPAS1 EPO EPOR JAK2
6 skeleton MP:0005390 9.02 JAK2 VHL EGLN1 EPAS1 EPO

Drugs & Therapeutics for Primary Polycythemia

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

(show top 50) (show all 261)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 32051 23994
2
Lactitol Investigational Phase 4 585-86-4 3871
3
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
4
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1 55-98-1 2478
5
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 38904 498142
6
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1 50-18-0, 6055-19-2 2907
7
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
8
Hydroxyurea Approved Phase 3,Phase 2,Phase 1 127-07-1 3657
9
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
10
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
11
Peginterferon alfa-2b Approved Phase 3,Phase 1,Phase 2 215647-85-1, 99210-65-8
12
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
13
Ondansetron Approved Phase 3,Phase 1,Phase 2 99614-02-5 4595
14
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
15
Caspofungin Approved Phase 3,Phase 2 162808-62-0, 179463-17-3 2826718 468682
16
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
17
Dextromethorphan Approved Phase 3 125-71-3 5362449 5360696
18
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
19
Morphine Approved, Investigational Phase 3 57-27-2 5288826
20
Anagrelide Approved Phase 3,Phase 2 68475-42-3 2182
21
Lenalidomide Approved Phase 3,Phase 2 191732-72-6 216326
22 Pomalidomide Approved Phase 3,Phase 1,Phase 2 19171-19-8
23
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
24
Melphalan Approved Phase 2, Phase 3, Phase 1 148-82-3 460612 4053
25 Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 1 52-24-4 5453
26
Benzocaine Approved, Investigational Phase 3,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
27
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
28
Danazol Approved Phase 3,Phase 2 17230-88-5 28417
29
Iron Approved Phase 3,Phase 1,Phase 2 7439-89-6 23925
30
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
31
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
32 tannic acid Approved, Nutraceutical Phase 3,Phase 1,Phase 2
33 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
34 Analgesics Phase 3,Phase 2,Phase 1
35 Anesthetics Phase 3
36 Anesthetics, Dissociative Phase 3
37 Anesthetics, General Phase 3
38 Anesthetics, Intravenous Phase 3
39 Central Nervous System Depressants Phase 3,Phase 1,Phase 2
40 Excitatory Amino Acid Antagonists Phase 3
41 Excitatory Amino Acids Phase 3
42 Neurotransmitter Agents Phase 3,Phase 2
43 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
44 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
45 Anti-Infective Agents Phase 3,Phase 2,Phase 1
46 Antirheumatic Agents Phase 3,Phase 2,Phase 1
47 Dermatologic Agents Phase 3,Phase 2,Phase 1
48 Anti-Bacterial Agents Phase 3,Phase 1,Phase 2
49 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
50 Alkylating Agents Phase 2, Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 243)

# Name Status NCT ID Phase Drugs
1 CINC424A2X01B Rollover Protocol Recruiting NCT02386800 Phase 4 Ruxolitinib
2 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
3 Randomized Switch Study From Hydroxyurea to Ruxolitinib for RELIEF of Polycythemia Vera Symptoms: The Relief Study Completed NCT01632904 Phase 3 Ruxolitinib;Hydroxyurea (HU);HU-placebo;Ruxolitinib-placebo
4 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Completed NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
5 Study to Assess the Self-administration of AOP2014 Using a Pen, Developed for the Treatment of Polycythemia Vera Patients Completed NCT02523638 Phase 3 Pegylated-Proline-Interferon alpha-2b in a Pre-filled Pen
6 Pegylated Interferon Alpha-2b Versus Hydroxyurea in Polycythemia Vera Completed NCT01949805 Phase 3 Peg-P-IFN-alpha-2b (AOP2014);Hydroxyurea
7 A Clinical Study of Ruxolitinib in Patients With Primary Myelofibrosis (PM), Post-polycythemia Vera (PV) Myelofibrosis, or Post-essential Thrombocythemia (ET) Myelofibrosis Completed NCT02087059 Phase 3 Ruxolitinib
8 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
9 Controlled Myelofibrosis Study With Oral Janus-associated Kinase (JAK) Inhibitor Treatment-II: The COMFORT-II Trial Completed NCT00934544 Phase 3 INC424/INCB018424;Best Available Therapy (BAT)
10 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3 SAR302503;Placebo
11 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
12 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
13 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
14 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
15 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
16 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
17 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
18 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
19 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
20 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. Recruiting NCT02292446 Phase 3 Ruxolitinib
21 Ruxolitinib Efficacy and Safety in Patients With HU Resistant or Intolerant Polycythemia Vera vs Best Available Therapy. Active, not recruiting NCT02038036 Phase 3 Best Available Therapy;ruxolitinib
22 AOP2014 vs. 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)
23 Study of Efficacy and Safety in Polycythemia Vera Subjects Who Are Resistant to or Intolerant of Hydroxyurea: JAK Inhibitor INC424 (INCB018424) Tablets Versus Best Available Care: (The RESPONSE Trial) Active, not recruiting NCT01243944 Phase 3 ruxolitinib tablets
24 Efficacy of Momelotinib Versus Best Available Therapy in Anemic or Thrombocytopenic Subjects With Primary Myelofibrosis (MF), Post-polycythemia Vera MF, or Post-essential Thrombocythemia MF Active, not recruiting NCT02101268 Phase 3 Momelotinib;Best Available Therapy (BAT)
25 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
26 A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms Active, not recruiting NCT01387763 Phase 3 PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
27 Phase-3 Double-Blind, Placebo-Controlled Study of Pomalidomide in Persons With Myeloproliferative-Neoplasm-Associated Myelofibrosis and RBC-Transfusion-Dependence Myelofibrosis and RBC-Transfusion-Dependence Active, not recruiting NCT01178281 Phase 3 Pomalidomide 0.5 mg;Placebo
28 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
29 Large-scale Trial Testing the Intensity of CYTOreductive Therapy in Polycythemia Vera (PV) Terminated NCT01645124 Phase 3 Hydroxyurea
30 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
31 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
32 A Study of the Efficacy of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
33 CEP-701 (Lestaurtinib) in Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2 CEP-701 (Lestaurtinib)
34 LBH589 (Panobinostat) for the Treatment of Myelofibrosis Unknown status NCT01298934 Phase 1, Phase 2 LBH589
35 Phase II Study of GIVINOSTAT (ITF2357) in Combination With Hydroxyurea in Polycythemia Vera Completed NCT00928707 Phase 2 GIVINOSTAT (ITF2357) 50 mg o.d. + MTD Hydroxyurea;GIVINOSTAT (ITF2357) 50 mg b.i.d. + MTD Hydroxyurea
36 A Two-part Study to Assess the Safety and Preliminary Efficacy of Givinostat in Patients With Polycythemia Vera Completed NCT01901432 Phase 1, Phase 2 Givinostat
37 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2 PEGASYS;Aspirin
38 Efficacy and Safety of Pegylated Interferon Alfa in Polycythemia Vera Completed NCT00241241 Phase 2 pegylated interferon-alfa 2a
39 Treatment of Polycythemia Vera With Gleevec Completed NCT01120821 Phase 2 Gleevec
40 Effects of Imatinib Mesylate in Polycythemia Vera Completed NCT00430066 Phase 2 Imatinib Mesylate
41 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2 Imetelstat
42 Open-Label Study of Oral CEP-701 (Lestaurtinib) in Patients With Polycythemia Vera or Essential Thrombocytosis Completed NCT00586651 Phase 2 lestaurtinib
43 Safety Study of Pegylated Interferon Alpha 2b to Treat Polycythemia Vera Completed NCT01193699 Phase 1, Phase 2 PEG-P-INF alpha-2b (P1101)
44 Safety Study Evaluating Twice-Daily Administration of Momelotinib in Primary Myelofibrosis or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis Completed NCT01423058 Phase 1, Phase 2 Momelotinib
45 Extension Study Evaluating the Long Term Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT01236638 Phase 2 Momelotinib
46 Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT00935987 Phase 1, Phase 2 CYT387
47 Momelotinib in Transfusion-Dependent Adults With Primary Myelofibrosis (PMF) or Post-polycythemia Vera or Post-essential Thrombocythemia Myelofibrosis (Post-PV/ET MF) Completed NCT02515630 Phase 2 MMB
48 Efficacy and Safety of Simtuzumab in Adults With Primary, Post Polycythemia Vera or Post Essential Thrombocythemia Myelofibrosis Completed NCT01369498 Phase 2 Simtuzumab;Ruxolitinib
49 Open Label Ruxolitinib (INCB018424) in Patients With Myelofibrosis and Post Polycythemia Vera/Essential Thrombocythemia Myelofibrosis Completed NCT00509899 Phase 1, Phase 2 Ruxolitinib
50 Study With SAR302503 in Patients With Polycythemia Vera or Essential Thrombocythemia Completed NCT01420783 Phase 2 SAR302503

Search NIH Clinical Center for Primary Polycythemia

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: polycythemia, primary familial and congenital

Genetic Tests for Primary Polycythemia

Genetic tests related to Primary Polycythemia:

# Genetic test Affiliating Genes
1 Familial Erythrocytosis 28

Anatomical Context for Primary Polycythemia

MalaCards organs/tissues related to Primary Polycythemia:

38
Myeloid, Bone, Bone Marrow, Lung, Heart, Brain, T Cells

Publications for Primary Polycythemia

Articles related to Primary Polycythemia:

(show all 25)
# Title Authors Year
1
Identification of JAK2 mutations in canine primary polycythemia. ( 21320566 )
2011
2
[Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis]. ( 19915370 )
2009
3
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis. ( 18508787 )
2008
4
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. ( 18184961 )
2008
5
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway. ( 18711622 )
2008
6
Overexpression of SOCS-2 and SOCS-3 genes reverses erythroid overgrowth and IGF-I hypersensitivity of primary polycythemia vera (PV) cells. ( 17325857 )
2007
7
Polycythemia vera and other primary polycythemias. ( 15725900 )
2005
8
Isolated trochlear nerve palsy as a presenting feature of primary polycythemia rubra vera. ( 15180853 )
2004
9
A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. ( 11929803 )
2002
10
Concomitant primary polycythemia vera and follicle center cell non-Hodgkin lymphoma: a case report and review of the literature. ( 12533050 )
2002
11
A human erythropoietin receptor gene mutant causing familial erythrocytosis is associated with deregulation of the rates of Jak2 and Stat5 inactivation. ( 9923445 )
1999
12
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. ( 10498627 )
1999
13
Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. ( 9649565 )
1998
14
Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. ( 9192789 )
1997
15
The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia. ( 9394420 )
1997
16
Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. ( 8174675 )
1994
17
Diagnosis of canine primary polycythemia and management with hydroxyurea. ( 7061327 )
1982
18
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. ( 996426 )
1976
19
Activity and intracellular localization of lysosomal acid phosphatase in lymphocytes from patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. ( 1025804 )
1976
20
Daraprim in the treatment of primary polycythemia. ( 13716341 )
1960
21
Blood basophils in primary polycythemia. ( 14400719 )
1959
22
Radioactive phosphorus in the treatment of primary polycythemia (vera). ( 13359507 )
1956
23
Evaluation of radiophosphorus therapy in primary polycythemia. ( 14850278 )
1951
24
The therapeutic application of radioactive phosphorus with special reference to the treatment of primary polycythemia and chronic myeloid leukemia. ( 15407496 )
1949
25
Radiophosphorus as the treatment of choice in primary polycythemia. ( 20998219 )
1946

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 all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 EGLN1 EPAS1 EPO VHL
2
Show member pathways
12.63 EPO EPOR IL3 JAK2
3
Show member pathways
12.53 EPO EPOR JAK2
4
Show member pathways
12.17 EGLN1 EPAS1 VHL
5
Show member pathways
12 EPO EPOR IL3 JAK2
6 11.89 EGLN1 EPAS1 EPO EPOR IL3 JAK2
7
Show member pathways
11.76 EPO EPOR IL3 JAK2
8 11.65 EGLN1 EPO VHL
9
Show member pathways
11.62 EPO EPOR JAK2
10 11.6 EPO EPOR IL3
11 11.4 EGLN1 EPO
12 11.37 EPO EPOR IL3 JAK2
13 11.31 EGLN1 EPO VHL
14 11.26 EPO IL3
15 11.25 EPO IL3
16
Show member pathways
11.19 EPO EPOR JAK2
17 11.1 EGLN1 EPO
18 10.96 EPO EPOR
19 10.79 EGLN1 EPAS1 EPO VHL
20 10.73 EPAS1 VHL

GO Terms for Primary Polycythemia

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

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.54 EGLN1 EPAS1 EPO
2 cytokine-mediated signaling pathway GO:0019221 9.5 EPOR IL3 JAK2
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.46 IL3 JAK2
4 positive regulation of cell differentiation GO:0045597 9.43 JAK2 VHL
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 EPO IL3 JAK2
6 positive regulation of DNA replication GO:0045740 9.4 EPO IL3
7 erythropoietin-mediated signaling pathway GO:0038162 9.16 EPO EPOR
8 erythrocyte differentiation GO:0030218 9.13 EPAS1 EPO JAK2
9 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 8.92 EGLN1 EPAS1 EPO VHL

Sources for Primary Polycythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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