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MCID: PLY018
MIFTS: 58

Polycythemia

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

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MalaCards integrated aliases for Polycythemia:

Name: Polycythemia 12 29 55 6 44 15 73
Polycythemia Vera 73
Erythrocythemia 12

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:8432
ICD10 33 D75.1
MeSH 44 D011086
NCIt 50 C26863
UMLS 73 C0032461
Sources

Summaries for Polycythemia

About this section
MalaCards based summary : Polycythemia, also known as polycythemia vera, is related to acquired polycythemia and autosomal dominant secondary polycythemia. An important gene associated with Polycythemia is CD177 (CD177 Molecule), and among its related pathways/superpathways are TGF-Beta Pathway and Akt Signaling. The drugs Zinc and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are growth/size/body region and hematopoietic system

Wikipedia : 76 Polycythemia (also known as polycythaemia or polyglobulia) is a disease state in which the hematocrit... more...

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Related Diseases for Polycythemia

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Diseases in the Polycythemia family:

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

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

(show top 50) (show all 295)
# Related Disease Score Top Affiliating Genes
1 acquired polycythemia 34.0 EPO EPOR JAK2
2 autosomal dominant secondary polycythemia 33.5 EGLN1 EPAS1
3 hemangioblastoma 32.3 EPO EPOR VHL
4 primary polycythemia 31.8 EGLN1 EPAS1 EPO EPOR IL3 JAK2
5 erythrocytosis, familial, 2 31.5 EGLN1 EPAS1 EPO EPOR HIF1A VHL
6 budd-chiari syndrome 31.4 CALR F5 JAK2
7 erythrocytosis, familial, 1 31.4 EPO EPOR IL3 JAK2 STAT5A THPO
8 myeloproliferative neoplasm 31.1 CALR JAK2 MPL TET2
9 splenomegaly 30.7 EPO JAK2 MPL
10 hypoxia 29.7 EGLN1 EPAS1 HIF1A VHL
11 refractory anemia 28.9 EPO IL3 JAK2 MPL TET2
12 thrombocytosis 28.8 EPO IL3 JAK2 MPL TET2 THPO
13 iron deficiency anemia 28.7 EPO TFRC THPO
14 pancytopenia 28.4 EPO IL3 MPL THPO
15 neutropenia 27.7 CD177 EPO IL3 KITLG THPO
16 polycythemia vera 27.6 CALR CD177 EPO EPOR F5 IL3
17 leukemia, acute myeloid 27.2 IL3 JAK2 KITLG MPL STAT5A TET2
18 deficiency anemia 27.1 EPO EPOR HIF1A IL3 TFRC THPO
19 leukemia, chronic myeloid 26.8 CD177 EPO IL3 JAK2 KITLG MPL
20 essential thrombocythemia 26.7 CALR CD177 EPO EPOR IL3 JAK2
21 myelofibrosis 26.3 CALR CD177 EPO IL3 JAK1 JAK2
22 myelodysplastic syndrome 25.1 EPO EPOR IL3 JAK2 KITLG MPL
23 stress polycythemia 12.1
24 multiple paragangliomas associated with polycythemia 12.0
25 erythropoietin polycythemia 12.0
26 dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease 11.9
27 hypermanganesemia with dystonia 1 11.9
28 physiological polycythemia 11.9
29 dehydration polycythemia 11.9
30 autosomal recessive secondary polycythemia not associated with vhl gene 11.9
31 polycythemia due to hypoxia 11.8
32 erythrocytosis, familial, 6 11.5
33 erythrocytosis, familial, 7 11.5
34 pseudopolycythaemia 11.4
35 plethora of newborn 11.3
36 erythromelalgia 11.2
37 aquagenic pruritus 11.2
38 hypermanganesemia with dystonia 11.1
39 chronic mountain sickness 11.1
40 hepatopulmonary syndrome 11.1
41 fumarase deficiency 10.8
42 hemoglobin, high altitude adaptation 10.8
43 leiomyoma 10.8
44 leiomyomatosis 10.8
45 pulmonary arterio-veinous fistula 10.8
46 chromosome 5q deletion syndrome 10.6 EPO TET2
47 acute erythroid leukemia 10.6 EPO EPOR JAK2
48 fumarate hydratase deficiency 10.4 HIF1A VHL
49 retinitis pigmentosa and erythrocytic microcytosis 10.3 EPO IL3 JAK2
50 transient erythroblastopenia of childhood 10.3 EPO KITLG

Graphical network of the top 20 diseases related to Polycythemia:



Diseases related to Polycythemia
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Symptoms & Phenotypes for Polycythemia

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MGI Mouse Phenotypes related to Polycythemia:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 MPL JAK1 STAT5A JAK2 HIF1A KITLG
2 hematopoietic system MP:0005397 10.28 STAT5A JAK2 TET2 KITLG MPL JAK1
3 cardiovascular system MP:0005385 10.27 JAK1 HIF1A KITLG VHL TET2 TFRC
4 cellular MP:0005384 10.26 MPL STAT5A JAK2 HIF1A KITLG TFRC
5 homeostasis/metabolism MP:0005376 10.24 JAK1 MPL STAT5A JAK2 HIF1A KITLG
6 embryo MP:0005380 10.23 JAK2 HIF1A KITLG MPL VHL TFRC
7 immune system MP:0005387 10.2 STAT5A JAK2 TET2 KITLG MPL JAK1
8 liver/biliary system MP:0005370 9.97 STAT5A JAK2 TET2 KITLG JAK1 VHL
9 integument MP:0010771 9.96 JAK1 STAT5A JAK2 HIF1A KITLG TFRC
10 mortality/aging MP:0010768 9.83 JAK1 MPL STAT5A JAK2 HIF1A KITLG
11 normal MP:0002873 9.28 JAK1 STAT5A JAK2 HIF1A TFRC VHL
Sources

Drugs & Therapeutics for Polycythemia

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

(show top 50) (show all 294)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 23994
2
Acetazolamide Approved, Vet_approved Phase 4,Phase 1,Phase 2 59-66-5 1986
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4
Racepinephrine Approved Phase 4 329-65-7 838
5
Lactitol Investigational Phase 4 585-86-4 3871
6 insulin Phase 4,Not Applicable
7 diuretics Phase 4,Phase 1,Phase 2
8 Natriuretic Agents Phase 4,Phase 1,Phase 2
9 Epinephryl borate Phase 4
10 Hypoglycemic Agents Phase 4,Phase 2,Phase 3
11 Anticonvulsants Phase 4,Phase 1,Phase 2
12 Insulin, Globin Zinc Phase 4,Not Applicable
13 Carbonic Anhydrase Inhibitors Phase 4,Phase 1,Phase 2
14
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
15
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 498142 38904
16
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
17
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
18
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
19
Anagrelide Approved Phase 3,Phase 2 68475-42-3 2182
20
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
21
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
22
Hydroxyurea Approved Phase 3,Phase 2,Phase 1 127-07-1 3657
23
Danazol Approved Phase 3,Phase 2 17230-88-5 28417
24
Lenalidomide Approved Phase 3,Phase 2 191732-72-6 216326
25
Iron Approved Phase 3,Phase 1,Phase 2,Not Applicable 7439-89-6 23925
26
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
27
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
28
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
29
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
30
Morphine Approved, Investigational Phase 3,Not Applicable 57-27-2 5288826
31
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 1 52-24-4 5453
32
Melphalan Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 148-82-3 4053 460612
33
Benzocaine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
34
Testosterone Approved, Investigational Phase 3,Not Applicable 58-22-0 6013
35
Ondansetron Approved Phase 3,Phase 1,Phase 2,Not Applicable 99614-02-5 4595
36
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
37
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
38
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
39
Peginterferon alfa-2b Approved Phase 3,Phase 1,Phase 2 99210-65-8, 215647-85-1
40
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
41
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Not Applicable 93-14-1 3516
42 Pomalidomide Approved Phase 3,Phase 1,Phase 2 19171-19-8
43 tannic acid Approved, Nutraceutical Phase 3,Phase 1,Phase 2,Not Applicable
44
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
45
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
46 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
47 Analgesics Phase 3,Phase 2,Phase 1,Not Applicable
48 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
49 Central Nervous System Depressants Phase 3,Phase 1,Phase 2,Not Applicable
50 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 290)
# Name Status NCT ID Phase Drugs
1 Treatment of High Altitude Polycythemia by Acetazolamide Completed NCT00424970 Phase 4 acetazolamide
2 Exploratory Phase II Study of INC424 Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4 INC424
3 Investigating the Accuracy of the Home Glucose Monitors in Hypoglycemia Completed NCT01013402 Phase 4 Human insulin;Human Insulin
4 CINC424A2X01B Rollover Protocol Recruiting NCT02386800 Phase 4 Ruxolitinib
5 Glyburide Compared to Insulin in the Management of White's Classification A2 Gestational Diabetes Withdrawn NCT00160485 Phase 4 Glyburide;Insulin
6 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
7 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
8 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
9 Pegylated Interferon Alpha-2b Versus Hydroxyurea in Polycythemia Vera Completed NCT01949805 Phase 3 Peg-P-IFN-alpha-2b (AOP2014);Hydroxyurea
10 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Completed NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
11 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
12 INC424 for Patients With Primary Myelofibrosis, Post Polycythemia Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis. Completed NCT01493414 Phase 3 INC424
13 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)
14 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
15 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3 SAR302503;Placebo
16 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
17 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
18 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
19 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
20 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
21 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
22 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
23 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
24 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
25 Metformin in Obese Non-diabetic Pregnant Women Completed NCT01273584 Phase 2, Phase 3 Metformin;Placebo
26 Ruxolitinib Efficacy and Safety in Patients With HU Resistant or Intolerant Polycythemia Vera vs Best Available Therapy. Recruiting NCT02038036 Phase 3 Best Available Therapy;ruxolitinib
27 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
28 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)
29 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
30 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)
31 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
32 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
33 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
34 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
35 Erythropoietin in Management of Neonatal Hypoxic Ischemic Encephalopathy Not yet recruiting NCT03163589 Phase 3 Erythropoietin;normal saline
36 Large-scale Trial Testing the Intensity of CYTOreductive Therapy in Polycythemia Vera (PV) Terminated NCT01645124 Phase 3 Hydroxyurea
37 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
38 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
39 H-36731: Finasteride in Management of Elevated Red Blood Cells Withdrawn NCT02548117 Phase 3 Finasteride
40 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)
41 LBH589 (Panobinostat) for the Treatment of Myelofibrosis Unknown status NCT01298934 Phase 1, Phase 2 LBH589
42 CEP-701 (Lestaurtinib) in Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2 CEP-701 (Lestaurtinib)
43 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
44 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
45 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2 PEGASYS;Aspirin
46 Treatment of Polycythemia Vera With Gleevec Completed NCT01120821 Phase 2 Gleevec
47 Efficacy and Safety of Pegylated Interferon Alfa in Polycythemia Vera Completed NCT00241241 Phase 2 pegylated interferon-alfa 2a
48 Effects of Imatinib Mesylate in Polycythemia Vera Completed NCT00430066 Phase 2 Imatinib Mesylate
49 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2 Imetelstat
50 Open-Label Study of Oral CEP-701 (Lestaurtinib) in Patients With Polycythemia Vera or Essential Thrombocytosis Completed NCT00586651 Phase 2 lestaurtinib

Search NIH Clinical Center for Polycythemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: polycythemia

Sources

Genetic Tests for Polycythemia

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Genetic tests related to Polycythemia:

# Genetic test Affiliating Genes
1 Polycythemia 29
Sources

Anatomical Context for Polycythemia

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MalaCards organs/tissues related to Polycythemia:

41
Bone, Bone Marrow, Myeloid, Liver, T Cells, Kidney, Testes
Sources

Publications for Polycythemia

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Articles related to Polycythemia:

(show top 50) (show all 1230)
# Title Authors Year
1
Significance of thrombocytopenia in patients with primary and postessential thrombocythemia/polycythemia vera myelofibrosis. ( 29226426 )
2018
2
Impact of hydroxycarbamide and interferon-I+ on red cell adhesion and membrane protein expression in polycythemia vera. ( 29599206 )
2018
3
Serum ferritin as a biomarker of polycythemia vera? ( 29765288 )
2018
4
Phenotype variability of patients with post polycythemia vera and post essential thrombocythemia myelofibrosis is associated with the time to progression from polycythemia vera and essential thrombocythemia. ( 29734070 )
2018
5
Pulsatile flow of non-Newtonian blood fluid inside stenosed arteries: Investigating the effects of viscoelastic and elastic walls, arteriosclerosis, and polycythemia diseases. ( 29249336 )
2018
6
Evidence- and consensus-based recommendations for phlebotomy in polycythemia vera. ( 29955128 )
2018
7
Aquagenic Pruritus in Polycythemia Vera: Clinical Characteristics. ( 29437189 )
2018
8
Distinguishing myelofibrosis from polycythemia vera and essential thrombocythemia: The utility of enumerating circulating stem cells with aberrant hMICL expression by flow cytometry. ( 29427319 )
2018
9
Polycythemia vera treatment algorithm 2018. ( 29321547 )
2018
10
The WHO diagnostic criteria for polycythemia vera-role of red cell mass versus hemoglobin/hematocrit level and morphology. ( 29717365 )
2018
11
Excessive Iron Availability Caused by Disorders of Interleukin-10 and Interleukin-22 Contributes to High Altitude Polycythemia. ( 29872401 )
2018
12
Incidence of solid tumors in polycythemia vera treated with phlebotomy with or without hydroxyurea: ECLAP follow-up data. ( 29335456 )
2018
13
Safety and efficacy of combination therapy of interferon-I+2 and ruxolitinib in polycythemia vera and myelofibrosis. ( 29932310 )
2018
14
The real-world outcomes of treating Polycythemia Vera: Physician adherence to treatment guidelines. ( 29885533 )
2018
15
Polycythemia vera and essential thrombocythemia: algorithmic approach. ( 29194068 )
2018
16
Severe Secondary Polycythemia in a Female-to-Male Transgender Patient While Using Lifelong Hormonal Therapy: A Patient's Perspective. ( 29396819 )
2018
17
Bone marrow findings in blast phase of polycythemia vera. ( 29285580 )
2018
18
Cytoreductive treatment patterns among US veterans with polycythemia vera. ( 29728092 )
2018
19
Non-driver mutations in patients with JAK2V617F-mutated polycythemia vera or essential thrombocythemia with long-term molecular follow-up. ( 29181548 )
2018
20
A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera. ( 29941837 )
2018
21
Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature. ( 29721250 )
2018
22
Value of cytogenetic abnormalities in post-polycythemia vera and post-essential thrombocythemia myelofibrosis: a study of the MYSEC project. ( 29622658 )
2018
23
Health Care Costs and Thromboembolic Events in Hydroxyurea-Treated Patients with Polycythemia Vera. ( 29290171 )
2018
24
Molecular evidence of JAK2 p.V617F mutated pure erythroid leukemia arising from polycythemia vera. ( 29611054 )
2018
25
Ruxolitinib for the treatment of inadequately controlled polycythemia vera without splenomegaly: 80-week follow-up from the RESPONSE-2 trial. ( 29804268 )
2018
26
GaisbAPck syndrome (polycythemia and hypertension) revisited: results from the national inpatient sample database. ( 29847483 )
2018
27
Unmasking and aggravation of polycythemia vera by canagliflozin. ( 29888479 )
2018
28
Prognostic factors for thrombosis-free survival and overall survival in polycythemia vera: A retrospective analysis of 623 PTS With long follow-up. ( 29625320 )
2018
29
Improvement in Ulcerative Necrobiosis Lipoidica After Janus Kinase-Inhibitor Therapy for Polycythemia Vera. ( 29800055 )
2018
30
Frequency of Polycythemia and Other Abnormalities in a Tibetan Herdsmen Population Residing in the Kham Area of Sichuan Province, China. ( 29338990 )
2018
31
Distinctive CD8<sup>+</sup> T cell and MHC class I signatures in polycythemia vera patients. ( 29789880 )
2018
32
Ruxolitinib is effective and safe in Japanese patients with hydroxyurea-resistant or hydroxyurea-intolerant polycythemia vera with splenomegaly. ( 28956263 )
2018
33
Increased plasma viscosity in plasma cell dyscrasia and whole blood viscosity in polycythemia vera. ( 29660912 )
2018
34
Ischemic Stroke Caused by Secondary Polycythemia and Incidentally-Found Renal Cell Carcinoma: A Case Report. ( 29861497 )
2018
35
Pegylated interferon Alfa-2a and hydroxyurea in polycythemia vera and essential thrombocythemia: differential cellular and molecular responses. ( 29556018 )
2018
36
Masked polycythemia Vera (mPV): Results of an international study. ( 29634089 )
2018
37
Prognostic risk model for patients with high-risk polycythemia vera and essential thrombocythemia. ( 29313725 )
2018
38
Neutropenia caused by hairy cell leukemia in a patient with myelofibrosis secondary to polycythemia vera: a case report. ( 29685167 )
2018
39
Loss of p53 induces leukemic transformation in a murine model of Jak2 V617F-driven polycythemia vera. ( 28068330 )
2017
40
Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis. ( 28419183 )
2017
41
Thrombotic Thrombocytopenic Purpura Associated With Pegylated Interferon Alfa-2a Use in a Patient With Polycythemia Vera. ( 28596255 )
2017
42
Can pegylated interferon improve the outcome of polycythemia vera patients? ( 28086927 )
2017
43
Pulmonary Hypertension Associated with Pulmonary Veno-occlusive Disease in Patients with Polycythemia Vera. ( 28824072 )
2017
44
In the era of next generation sequencing, is the cytogenetic analysis still important in polycythemia vera? ( 28702402 )
2017
45
From leeches to personalized medicine: evolving concepts in the management of polycythemia vera. ( 27884974 )
2017
46
Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation. ( 29193034 )
2017
47
Pulmonary extra-medullary hematopoiesis and pulmonary hypertension from underlying polycythemia vera: a case series. ( 28680586 )
2017
48
Risk factors for arterial versus venous thrombosis in polycythemia vera: a single center experience in 587 patients. ( 29282357 )
2017
49
Disease and treatment characteristics of polycythemia vera patients in Belgium: Results from a scientific survey. ( 29285836 )
2017
50
Patients with post-essential thrombocythemia and post-polycythemia vera differ from patients with primary myelofibrosis. ( 28601551 )
2017
Sources

Variations for Polycythemia

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ClinVar genetic disease variations for Polycythemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VHL NM_000551.3(VHL): c.235C> T (p.Arg79Cys) single nucleotide variant Uncertain significance rs200885420 GRCh37 Chromosome 3, 10183766: 10183766
2 VHL NM_000551.3(VHL): c.235C> T (p.Arg79Cys) single nucleotide variant Uncertain significance rs200885420 GRCh38 Chromosome 3, 10142082: 10142082

Copy number variations for Polycythemia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 251119 9 25500000 28100000 Mutation JAK2 polycythaemia
2 251120 9 25500000 28100000 Mutation V617F polycythaemia
3 253987 9 4985245 5128183 Mutation JAK2 polycythaemia
Sources

Expression for Polycythemia

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Search GEO for disease gene expression data for Polycythemia.
Sources

Pathways for Polycythemia

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Pathways related to Polycythemia according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 64
Show member pathways
 13.43 EPO EPOR IL3 JAK1 JAK2 KITLG
2
Akt Signaling 64
Show member pathways
 13.36 EPOR IL3 JAK1 JAK2 KITLG STAT5A
3
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 13.27 CD177 F5 IL3 JAK1 JAK2 MPL
4
p70S6K Signaling 64
Show member pathways
 13 HIF1A IL3 JAK1 JAK2 KITLG THPO
5
PI3K-Akt signaling pathway 37
Show member pathways
 12.93 EPO EPOR IL3 JAK1 JAK2 KITLG
6
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 65
Show member pathways
 12.84 JAK1 JAK2 MPL STAT5A THPO
7
Kaposi's sarcoma-associated herpesvirus infection 37
Show member pathways
 12.5 HIF1A JAK1 JAK2 STAT5A
8
NF-kappaB Signaling 4
12.5 IL3 JAK1 JAK2 KITLG MPL STAT5A
9
Th17 cell differentiation 37
Show member pathways
 12.38 HIF1A JAK1 JAK2 STAT5A
10
CNTF Signaling 64
Show member pathways
 12.38 IL3 JAK1 JAK2 STAT5A
11
ErbB signaling pathway 1 37
Show member pathways
 12.38 EGLN1 EPAS1 HIF1A JAK1 STAT5A VHL
12
Regulation of IFNA signaling 66
Show member pathways
 12.35 EPO EPOR IL3 JAK1 JAK2 MPL
13
Immune response Antigen presentation by MHC class II 22
Show member pathways
 12.09 JAK1 JAK2 STAT5A
14
Pathways in cancer 37
12.08 EGLN1 EPAS1 EPO EPOR HIF1A IL3
15
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.04 IL3 JAK1 JAK2 KITLG THPO
16
Interleukin-4 and 13 signaling 66
11.91 HIF1A JAK1 JAK2
17
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 11.9 IL3 JAK1 JAK2 STAT5A
18
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.9 EPO IL3 KITLG MPL THPO
19
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.85 EPO EPOR JAK2 STAT5A
20
Visual Cycle in Retinal Rods 64
11.84 JAK2 MPL STAT5A THPO
21
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.8 EPAS1 HIF1A VHL
22
HIF-1 signaling pathway 37
11.77 EGLN1 EPO HIF1A TFRC VHL
23
Jak-Stat Signaling Pathway 67
11.74 EPO EPOR IL3 JAK1 JAK2 STAT5A
24
Hematopoietic cell lineage 37
11.72 EPO EPOR IL3 KITLG TFRC THPO
25
Kit receptor signaling pathway 1
Show member pathways
 11.71 EPO EPOR IL3 JAK1 JAK2 KITLG
26
AGE/RAGE pathway 1
11.65 HIF1A JAK2 STAT5A
27
HIF-1-alpha transcription factor network 1
11.64 EGLN1 EPO HIF1A TFRC
28
IL4-mediated signaling events 1
11.61 JAK1 JAK2 STAT5A
29
HIF1Alpha Pathway 64
11.53 EGLN1 EPO HIF1A VHL
30
Differentiation Pathway 1
11.48 EPO IL3 KITLG
31
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.47 JAK1 JAK2 STAT5A
32
Hematopoietic Stem Cell Differentiation 1
11.46 EPO IL3 KITLG STAT5A
33
Th2 Differentiation Pathway 65
11.45 JAK1 JAK2 STAT5A
34
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.42 EPO EPOR JAK2
35
Jak/STAT Signaling Pathway Intracellular Regulation 65
11.38 JAK1 JAK2 STAT5A
36
Type III Interferon Signaling Pathways 65
Show member pathways
 11.36 JAK1 JAK2 STAT5A
37
Photodynamic therapy-induced HIF-1 survival signaling 1
11.33 EGLN1 EPO HIF1A
38
HIF-2-alpha transcription factor network 1
11.24 EGLN1 EPAS1 EPO VHL
39
Immune response_Oncostatin M signaling via JAK-Stat in human cells 22
11 JAK1 JAK2 STAT5A
40
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
10.91 EPAS1 VHL
41
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha 1
10.85 HIF1A VHL
Sources

GO Terms for Polycythemia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.28 CALR CD177 EPO EPOR F5 IL3

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.98 CALR EPO IL3 JAK2 KITLG
2 MAPK cascade GO:0000165 9.91 IL3 JAK1 JAK2 KITLG
3 regulation of cell proliferation GO:0042127 9.88 HIF1A JAK1 JAK2 TFRC
4 cellular response to hypoxia GO:0071456 9.8 EPAS1 HIF1A MPL
5 response to hypoxia GO:0001666 9.78 EGLN1 EPAS1 EPO HIF1A
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.77 IL3 JAK2 KITLG
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.71 EPO IL3 JAK2
8 cellular iron ion homeostasis GO:0006879 9.7 EGLN1 HIF1A TFRC
9 interleukin-6-mediated signaling pathway GO:0070102 9.62 JAK1 JAK2
10 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.62 JAK2 STAT5A
11 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.61 JAK1 JAK2
12 interleukin-15-mediated signaling pathway GO:0035723 9.6 JAK1 STAT5A
13 erythrocyte differentiation GO:0030218 9.58 EPAS1 EPO JAK2
14 interleukin-27-mediated signaling pathway GO:0070106 9.57 JAK1 JAK2
15 interleukin-2-mediated signaling pathway GO:0038110 9.56 JAK1 STAT5A
16 interleukin-35-mediated signaling pathway GO:0070757 9.55 JAK1 JAK2
17 oxygen homeostasis GO:0032364 9.51 EGLN1 HIF1A
18 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.49 EPAS1 HIF1A
19 hemoglobin biosynthetic process GO:0042541 9.46 EPO HIF1A
20 positive regulation of DNA replication GO:0045740 9.46 CALR EPO IL3 KITLG
21 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.43 KITLG THPO
22 embryonic hemopoiesis GO:0035162 9.43 HIF1A IL3 KITLG
23 erythropoietin-mediated signaling pathway GO:0038162 9.37 EPO EPOR
24 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.35 EGLN1 EPAS1 EPO HIF1A VHL
25 thrombopoietin-mediated signaling pathway GO:0038163 9.32 MPL THPO
26 cytokine-mediated signaling pathway GO:0019221 9.17 EPOR HIF1A IL3 JAK1 JAK2 MPL

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.62 EPO IL3 KITLG THPO
2 protein tyrosine kinase activity GO:0004713 9.26 IL3 JAK1 JAK2 STAT5A
3 growth hormone receptor binding GO:0005131 9.16 JAK1 JAK2
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.92 IL3 JAK1 JAK2 KITLG
5 protein binding GO:0005515 10.19 CALR CD177 EGLN1 EPAS1 EPO EPOR
Sources

Sources for Polycythemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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