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MCID: PLY018
MIFTS: 60

Polycythemia

Categories: Blood diseases, Genetic diseases, Immune 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: Rare diseases Genetic 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
SNOMED-CT 68 44865000
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Summaries for Polycythemia

About this section
Disease Ontology : 12 A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.

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 ERK Signaling and TGF-Beta Pathway. The drugs Acetazolamide and Racepinephrine 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 339)
# Related Disease Score Top Affiliating Genes
1 acquired polycythemia 33.7 EPO EPOR JAK2
2 autosomal dominant secondary polycythemia 33.1 EGLN1 EPAS1 EPO
3 primary polycythemia 32.6 CALR CD177 EGLN1 EPO EPOR IL3
4 erythrocytosis, familial, 1 32.6 EPO EPOR IL3 JAK2 STAT5A THPO
5 plethora of newborn 32.4 EGLN1 EPAS1 EPO
6 erythrocytosis, familial, 2 32.4 EGLN1 EPAS1 EPO EPOR HIF1A VHL
7 hemangioblastoma 32.2 EPO EPOR VHL
8 polycythemia vera 32.1 CALR CD177 EPO EPOR F5 IL3
9 budd-chiari syndrome 32.1 CALR F5 JAK2
10 myeloproliferative neoplasm 32.0 CALR JAK2 MPL TET2
11 splenomegaly 30.3 EPO JAK2 MPL
12 hypoxia 30.2 EGLN1 EPAS1 HIF1A VHL
13 essential thrombocythemia 29.9 CALR CD177 EPO EPOR IL3 JAK2
14 thrombocytosis 29.8 EPO IL3 JAK2 MPL TET2 THPO
15 chronic leukemia 29.8 JAK2 STAT5A TET2
16 myelofibrosis 29.6 CALR CD177 EPO IL3 JAK1 JAK2
17 systemic mastocytosis 29.4 JAK2 KITLG TET2
18 iron deficiency anemia 29.4 EPO TFRC THPO
19 refractory anemia 29.3 EPO IL3 JAK2 MPL TET2
20 deficiency anemia 29.2 EPO EPOR HIF1A IL3 TFRC THPO
21 leukemia, acute myeloid 29.0 IL3 JAK2 KITLG MPL STAT5A TET2
22 pancytopenia 29.0 EPO IL3 MPL THPO
23 leukemia, chronic myeloid 28.9 CD177 EPO IL3 JAK2 KITLG MPL
24 megakaryocytic leukemia 28.9 IL3 JAK2 KITLG THPO
25 myelodysplastic syndrome 28.0 EPO EPOR IL3 JAK2 KITLG MPL
26 stress polycythemia 12.2
27 multiple paragangliomas associated with polycythemia 12.1
28 erythropoietin polycythemia 12.1
29 dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease 12.1
30 hypermanganesemia with dystonia 1 12.1
31 physiological polycythemia 12.0
32 dehydration polycythemia 12.0
33 autosomal recessive secondary polycythemia not associated with vhl gene 12.0
34 polycythemia due to hypoxia 12.0
35 erythrocytosis, familial, 6 11.7
36 erythrocytosis, familial, 7 11.7
37 pseudopolycythaemia 11.5
38 erythromelalgia 11.3
39 aquagenic pruritus 11.3
40 chronic mountain sickness 11.3
41 hepatopulmonary syndrome 11.3
42 pulmonary arterio-veinous fistula 11.3
43 hypermanganesemia with dystonia 11.3
44 fumarase deficiency 11.0
45 hemoglobin, high altitude adaptation 11.0
46 leiomyoma 11.0
47 leiomyomatosis 11.0
48 thrombosis 10.5
49 leukemia 10.5
50 subacute myeloid leukemia 10.2 JAK2 TET2

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 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 CALR EGLN1 EPAS1 EPOR F5 HIF1A
2 hematopoietic system MP:0005397 10.31 CD177 EGLN1 EPAS1 EPO EPOR HIF1A
3 homeostasis/metabolism MP:0005376 10.31 CALR EGLN1 EPAS1 EPO EPOR F5
4 cardiovascular system MP:0005385 10.29 CALR EGLN1 EPAS1 EPO EPOR F5
5 cellular MP:0005384 10.27 CALR EGLN1 EPO EPOR HIF1A JAK2
6 embryo MP:0005380 10.26 CALR EGLN1 EPAS1 EPO EPOR F5
7 immune system MP:0005387 10.24 CD177 EGLN1 EPAS1 EPO EPOR HIF1A
8 liver/biliary system MP:0005370 10.1 EGLN1 EPAS1 EPO EPOR F5 HIF1A
9 mortality/aging MP:0010768 10.06 CALR EGLN1 EPAS1 EPO EPOR F5
10 integument MP:0010771 10.02 EGLN1 EPO F5 HIF1A JAK1 JAK2
11 normal MP:0002873 9.65 EPO EPOR HIF1A JAK1 JAK2 SLC30A10
12 skeleton MP:0005390 9.23 EGLN1 EPAS1 EPO HIF1A JAK1 JAK2
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 297)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4,Phase 1,Phase 2 59-66-5 1986
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Zinc Approved, Investigational Phase 4 7440-66-6
4
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
5
Lactitol Investigational Phase 4 585-86-4 3871
6 diuretics Phase 4,Phase 1,Phase 2
7 Anticonvulsants Phase 4,Phase 1,Phase 2
8 Carbonic Anhydrase Inhibitors Phase 4,Phase 1,Phase 2
9 Natriuretic Agents Phase 4,Phase 1,Phase 2
10 Insulin, Globin Zinc Phase 4,Not Applicable
11 insulin Phase 4,Not Applicable
12 Epinephryl borate Phase 4
13 Hypoglycemic Agents Phase 4,Phase 2,Phase 3
14
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
15
Hydroxyurea Approved Phase 3,Phase 2,Phase 1 127-07-1 3657
16
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
17
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 38904 498142
18
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
19
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
20
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
21
Iron Approved Phase 3,Phase 1,Phase 2,Not Applicable 7439-89-6 23925
22
Peginterferon alfa-2b Approved Phase 3,Phase 1,Phase 2 99210-65-8, 215647-85-1
23 Pomalidomide Approved Phase 3,Phase 2,Phase 1 19171-19-8
24
Anagrelide Approved Phase 3,Phase 2 68475-42-3 2182
25
Lenalidomide Approved Phase 3,Phase 2 191732-72-6 216326
26
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
27
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
28
Ondansetron Approved Phase 3,Phase 1,Phase 2,Not Applicable 99614-02-5 4595
29
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
30
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
31
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
32
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Not Applicable 93-14-1 3516
33
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
34
Morphine Approved, Investigational Phase 3,Not Applicable 57-27-2 5288826
35
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
36
Melphalan Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 148-82-3 4053 460612
37
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 1 52-24-4 5453
38
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
39 tannic acid Approved Phase 3,Phase 1,Phase 2,Not Applicable
40
Benzocaine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
41
Danazol Approved Phase 3,Phase 2 17230-88-5 28417
42
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
43
Testosterone Approved, Investigational Phase 3,Not Applicable 58-22-0 6013
44
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
45
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
46 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
47 Anesthetics, Dissociative Phase 3
48 Anesthetics, General Phase 3
49 Excitatory Amino Acid Antagonists Phase 3
50 Excitatory Amino Acids Phase 3

Interventional clinical trials:

(show top 50) (show all 301)
# 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 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) Completed NCT01243944 Phase 3 ruxolitinib tablets
11 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Completed NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
12 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
13 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
14 INC424 for Patients With Primary Myelofibrosis, Post Polycythemia Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis. Completed NCT01493414 Phase 3 INC424
15 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)
16 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
17 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3 SAR302503;Placebo
18 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 Completed NCT01178281 Phase 3 Pomalidomide 0.5 mg;Placebo
19 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
20 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
21 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
22 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
23 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
24 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
25 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
26 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
27 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
28 Metformin in Obese Non-diabetic Pregnant Women Completed NCT01273584 Phase 2, Phase 3 Metformin;Placebo
29 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
30 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)
31 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)
32 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
33 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
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 An Efficacy and Safety Trial of Fedratinib in Subjects With DIPSS, Intermediate or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis and Previously Treated With Ruxolitinib Not yet recruiting NCT03755518 Phase 3 FEDRATINIB
36 Erythropoietin in Management of Neonatal Hypoxic Ischemic Encephalopathy Not yet recruiting NCT03163589 Phase 3 Erythropoietin;normal saline
37 Large-scale Trial Testing the Intensity of CYTOreductive Therapy in Polycythemia Vera (PV) Terminated NCT01645124 Phase 3 Hydroxyurea
38 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
39 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
40 H-36731: Finasteride in Management of Elevated Red Blood Cells Withdrawn NCT02548117 Phase 3 Finasteride
41 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)
42 LBH589 (Panobinostat) for the Treatment of Myelofibrosis Unknown status NCT01298934 Phase 1, Phase 2 LBH589
43 CEP-701 (Lestaurtinib) in Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2 CEP-701 (Lestaurtinib)
44 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
45 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
46 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2 PEGASYS;Aspirin
47 Treatment of Polycythemia Vera With Gleevec Completed NCT01120821 Phase 2 Gleevec
48 Efficacy and Safety of Pegylated Interferon Alfa in Polycythemia Vera Completed NCT00241241 Phase 2 pegylated interferon-alfa 2a
49 Effects of Imatinib Mesylate in Polycythemia Vera Completed NCT00430066 Phase 2 Imatinib Mesylate
50 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2 Imetelstat

Search NIH Clinical Center for Polycythemia

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


Cochrane evidence based reviews: polycythemia

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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, T Cells, Lung, Liver, Endothelial
Sources

Publications for Polycythemia

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Articles related to Polycythemia:

(show top 50) (show all 1705)
# Title Authors Year
1
Hepatopulmonary syndrome-attributed extreme hypoxemia and polycythemia revealing liver cirrhosis. ( 30269997 )
2019
2
Significance of thrombocytopenia in patients with primary and postessential thrombocythemia/polycythemia vera myelofibrosis. ( 29226426 )
2018
3
Impact of hydroxycarbamide and interferon-I+ on red cell adhesion and membrane protein expression in polycythemia vera. ( 29599206 )
2018
4
Serum ferritin as a biomarker of polycythemia vera? ( 29765288 )
2018
5
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
6
Pulsatile flow of non-Newtonian blood fluid inside stenosed arteries: Investigating the effects of viscoelastic and elastic walls, arteriosclerosis, and polycythemia diseases. ( 29249336 )
2018
7
Evidence- and consensus-based recommendations for phlebotomy in polycythemia vera. ( 29955128 )
2018
8
Aquagenic Pruritus in Polycythemia Vera: Clinical Characteristics. ( 29437189 )
2018
9
Distinguishing myelofibrosis from polycythemia vera and essential thrombocythemia: The utility of enumerating circulating stem cells with aberrant hMICL expression by flow cytometry. ( 29427319 )
2018
10
Polycythemia vera treatment algorithm 2018. ( 29321547 )
2018
11
The WHO diagnostic criteria for polycythemia vera-role of red cell mass versus hemoglobin/hematocrit level and morphology. ( 29717365 )
2018
12
Excessive Iron Availability Caused by Disorders of Interleukin-10 and Interleukin-22 Contributes to High Altitude Polycythemia. ( 29872401 )
2018
13
Incidence of solid tumors in polycythemia vera treated with phlebotomy with or without hydroxyurea: ECLAP follow-up data. ( 29335456 )
2018
14
Safety and efficacy of combination therapy of interferon-I+2 and ruxolitinib in polycythemia vera and myelofibrosis. ( 29932310 )
2018
15
The real-world outcomes of treating Polycythemia Vera: Physician adherence to treatment guidelines. ( 29885533 )
2018
16
Polycythemia vera and essential thrombocythemia: algorithmic approach. ( 29194068 )
2018
17
Severe Secondary Polycythemia in a Female-to-Male Transgender Patient While Using Lifelong Hormonal Therapy: A Patient's Perspective. ( 29396819 )
2018
18
Bone marrow findings in blast phase of polycythemia vera. ( 29285580 )
2018
19
Cytoreductive treatment patterns among US veterans with polycythemia vera. ( 29728092 )
2018
20
Non-driver mutations in patients with JAK2V617F-mutated polycythemia vera or essential thrombocythemia with long-term molecular follow-up. ( 29181548 )
2018
21
A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera. ( 29941837 )
2018
22
Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature. ( 29721250 )
2018
23
Value of cytogenetic abnormalities in post-polycythemia vera and post-essential thrombocythemia myelofibrosis: a study of the MYSEC project. ( 29622658 )
2018
24
Health Care Costs and Thromboembolic Events in Hydroxyurea-Treated Patients with Polycythemia Vera. ( 29290171 )
2018
25
Molecular evidence of JAK2 p.V617F mutated pure erythroid leukemia arising from polycythemia vera. ( 29611054 )
2018
26
Ruxolitinib for the treatment of inadequately controlled polycythemia vera without splenomegaly: 80-week follow-up from the RESPONSE-2 trial. ( 29804268 )
2018
27
GaisbAPck syndrome (polycythemia and hypertension) revisited: results from the national inpatient sample database. ( 29847483 )
2018
28
Unmasking and aggravation of polycythemia vera by canagliflozin. ( 29888479 )
2018
29
Prognostic factors for thrombosis-free survival and overall survival in polycythemia vera: A retrospective analysis of 623 PTS With long follow-up. ( 29625320 )
2018
30
Improvement in Ulcerative Necrobiosis Lipoidica After Janus Kinase-Inhibitor Therapy for Polycythemia Vera. ( 29800055 )
2018
31
Frequency of Polycythemia and Other Abnormalities in a Tibetan Herdsmen Population Residing in the Kham Area of Sichuan Province, China. ( 29338990 )
2018
32
Distinctive CD8<sup>+</sup> T cell and MHC class I signatures in polycythemia vera patients. ( 29789880 )
2018
33
Ruxolitinib is effective and safe in Japanese patients with hydroxyurea-resistant or hydroxyurea-intolerant polycythemia vera with splenomegaly. ( 28956263 )
2018
34
Increased plasma viscosity in plasma cell dyscrasia and whole blood viscosity in polycythemia vera. ( 29660912 )
2018
35
Ischemic Stroke Caused by Secondary Polycythemia and Incidentally-Found Renal Cell Carcinoma: A Case Report. ( 29861497 )
2018
36
Pegylated interferon Alfa-2a and hydroxyurea in polycythemia vera and essential thrombocythemia: differential cellular and molecular responses. ( 29556018 )
2018
37
Masked polycythemia Vera (mPV): Results of an international study. ( 29634089 )
2018
38
Central Nervous System Lymphoma Harboring the JAK2 V617F Mutation That Developed after a 20-year History of Polycythemia Vera. ( 29984752 )
2018
39
Ischemic colitis caused by polycythemia vera: A case report and literature review. ( 30233723 )
2018
40
Co-occurrence of Dermatomyositis and Polycythemia Unveiling Rare de Novo Neuroendocrine Prostate Tumor. ( 30524963 )
2018
41
Cladribine treatment for Erdheim-Chester disease involving the central nervous system and concomitant polycythemia vera: A case report. ( 30305475 )
2018
42
Non-adherence to treatment with cytoreductive and/or antithrombotic drugs is frequent and associated with an increased risk of complications in patients with polycythemia vera or essential thrombocythemia (OUEST study). ( 29246923 )
2018
43
Prognostic risk model for patients with high-risk polycythemia vera and essential thrombocythemia. ( 29313725 )
2018
44
Thrombohemorrhagic events, disease progression, and survival in polycythemia vera and essential thrombocythemia: a retrospective survey in Miyazaki prefecture, Japan. ( 29488167 )
2018
45
Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management. ( 30281843 )
2018
46
Gender effect on phenotype and genotype in patients with post-polycythemia vera and post-essential thrombocythemia myelofibrosis: results from the MYSEC project. ( 30291232 )
2018
47
Differences in presenting features, outcome and prognostic models in patients with primary myelofibrosis and post-polycythemia vera and/or post-essential thrombocythemia myelofibrosis treated with ruxolitinib. New perspective of the MYSEC-PM in a large multicenter study⁎. ( 30502854 )
2018
48
Do All Patients With Polycythemia Vera or Essential Thrombocythemia Need Cytoreduction? ( 30545998 )
2018
49
Safety of Therapeutic Plasma Exchange for the Treatment of Guillain-Barré Syndrome in Polycythemia Vera. ( 30379740 )
2018
50
Neutropenia caused by hairy cell leukemia in a patient with myelofibrosis secondary to polycythemia vera: a case report. ( 29685167 )
2018
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 45)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.82 EPOR HIF1A IL3 JAK1 JAK2 KITLG
2
TGF-Beta Pathway 64
Show member pathways
 13.47 EPO EPOR IL3 JAK1 JAK2 KITLG
3
Akt Signaling 64
Show member pathways
 13.36 EPOR IL3 JAK1 JAK2 KITLG STAT5A
4
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 13.27 CD177 F5 IL3 JAK1 JAK2 MPL
5
p70S6K Signaling 64
Show member pathways
 13 HIF1A IL3 JAK1 JAK2 KITLG THPO
6
PI3K-Akt signaling pathway 37
Show member pathways
 12.96 EPO EPOR IL3 JAK1 JAK2 KITLG
7
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 65
Show member pathways
 12.74 JAK1 JAK2 MPL STAT5A THPO
8
Th17 cell differentiation 37
Show member pathways
 12.53 HIF1A JAK1 JAK2 STAT5A
9
Immune response IL-23 signaling pathway 22
Show member pathways
 12.52 EPAS1 JAK1 JAK2 STAT5A
10
NF-kappaB Signaling 4
12.5 IL3 JAK1 JAK2 KITLG MPL STAT5A
11
ErbB signaling pathway 1 37
Show member pathways
 12.38 EGLN1 EPAS1 HIF1A JAK1 STAT5A VHL
12
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.36 EPOR IL3 KITLG STAT5A THPO
13
CNTF Signaling 64
Show member pathways
 12.3 IL3 JAK1 JAK2 STAT5A
14
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.2 IL3 JAK1 KITLG THPO
15
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 12.12 EPO EPOR IL3 JAK1 JAK2 MPL
16
Pathways in cancer 37
12.08 EGLN1 EPAS1 EPO EPOR HIF1A IL3
17
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.03 IL3 JAK1 JAK2 KITLG THPO
18
Interleukin-4 and 13 signaling 66
11.92 HIF1A JAK1 JAK2
19
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 11.91 IL3 JAK1 JAK2 STAT5A
20
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.9 EPO IL3 KITLG MPL THPO
21
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.84 EPO EPOR JAK2 STAT5A
22
Visual Cycle in Retinal Rods 64
11.83 JAK2 MPL STAT5A THPO
23
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.81 EPAS1 HIF1A VHL
24
HIF-1 signaling pathway 37
11.77 EGLN1 EPO HIF1A TFRC VHL
25
Jak-Stat Signaling Pathway (sino) 67
11.74 EPO EPOR IL3 JAK1 JAK2 STAT5A
26
Hematopoietic cell lineage 37
11.72 EPO EPOR IL3 KITLG TFRC THPO
27
Kit receptor signaling pathway 1
Show member pathways
 11.71 EPO EPOR IL3 JAK1 JAK2 KITLG
28
G-protein signaling_RhoA regulation pathway 22
11.67 EPOR IL3 KITLG THPO
29
AGE/RAGE pathway 1
11.65 HIF1A JAK2 STAT5A
30
HIF-1-alpha transcription factor network 1
11.64 EGLN1 EPO HIF1A TFRC
31
IL4-mediated signaling events 1
11.62 JAK1 JAK2 STAT5A
32
HIF1Alpha Pathway 64
11.53 EGLN1 EPO HIF1A VHL
33
Differentiation Pathway 1
11.49 EPO IL3 KITLG
34
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.48 JAK1 JAK2 STAT5A
35
Th2 Differentiation Pathway 65
11.46 JAK1 JAK2 STAT5A
36
Hematopoietic Stem Cell Differentiation 1
11.46 EPO IL3 KITLG STAT5A
37
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.43 EPO EPOR JAK2
38
Jak/STAT Signaling Pathway Intracellular Regulation 65
11.38 JAK1 JAK2 STAT5A
39
Type III Interferon Signaling Pathways 65
Show member pathways
 11.37 JAK1 JAK2 STAT5A
40
Photodynamic therapy-induced HIF-1 survival signaling 1
11.34 EGLN1 EPO HIF1A
41
HIF-2-alpha transcription factor network 1
11.24 EGLN1 EPAS1 EPO VHL
42
Development_Thrombopoetin signaling via JAK-STAT pathway 22
11.23 JAK2 MPL STAT5A THPO
43
Immune response_Oncostatin M signaling via JAK-Stat in human cells 22
10.99 JAK1 JAK2 STAT5A
44
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
10.91 EPAS1 VHL
45
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 28)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.94 EPAS1 F5 HIF1A VHL
2 MAPK cascade GO:0000165 9.86 IL3 JAK1 JAK2 KITLG
3 cellular response to hypoxia GO:0071456 9.8 EPAS1 HIF1A MPL
4 peptidyl-tyrosine phosphorylation GO:0018108 9.8 IL3 JAK1 JAK2 STAT5A
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 cell proliferation GO:0008284 9.73 CALR EPO IL3 JAK2 KITLG THPO
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.72 EPO IL3 JAK2
9 cellular iron ion homeostasis GO:0006879 9.7 EGLN1 HIF1A TFRC
10 positive regulation of Ras protein signal transduction GO:0046579 9.63 EPO KITLG
11 interleukin-6-mediated signaling pathway GO:0070102 9.62 JAK1 JAK2
12 interleukin-15-mediated signaling pathway GO:0035723 9.62 JAK1 STAT5A
13 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.61 JAK2 STAT5A
14 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.61 JAK1 JAK2
15 interleukin-27-mediated signaling pathway GO:0070106 9.59 JAK1 JAK2
16 interleukin-2-mediated signaling pathway GO:0038110 9.58 JAK1 STAT5A
17 interleukin-35-mediated signaling pathway GO:0070757 9.58 JAK1 JAK2
18 erythrocyte differentiation GO:0030218 9.58 EPAS1 EPO JAK2
19 interleukin-9-mediated signaling pathway GO:0038113 9.57 JAK1 STAT5A
20 oxygen homeostasis GO:0032364 9.54 EGLN1 HIF1A
21 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.51 EPAS1 HIF1A
22 cytokine-mediated signaling pathway GO:0019221 9.5 EPOR HIF1A IL3 JAK1 JAK2 MPL
23 hemoglobin biosynthetic process GO:0042541 9.46 EPO HIF1A
24 positive regulation of hematopoietic stem cell proliferation GO:1902035 9.43 KITLG THPO
25 erythropoietin-mediated signaling pathway GO:0038162 9.37 EPO EPOR
26 embryonic hemopoiesis GO:0035162 9.33 HIF1A IL3 KITLG
27 thrombopoietin-mediated signaling pathway GO:0038163 9.32 MPL THPO
28 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.02 EGLN1 EPAS1 EPO HIF1A VHL

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 CALR CD177 EGLN1 EPAS1 EPO EPOR
2 cytokine activity GO:0005125 9.56 EPO IL3 KITLG THPO
3 protein tyrosine kinase activity GO:0004713 9.46 IL3 JAK1 JAK2 STAT5A
4 growth hormone receptor binding GO:0005131 9.32 JAK1 JAK2
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.92 IL3 JAK1 JAK2 KITLG
Sources

Sources for Polycythemia

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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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