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MCID: PRM012
MIFTS: 52

Primary Polycythemia

Categories: Immune diseases, Blood diseases, Genetic diseases, Rare 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 25 29 6 73
Polycythemia, Primary Familial and Congenital 44
Primary Familial Polycythemia 25
Benign Familial Polycythemia 25
Congenital Erythrocytosis 25
Hereditary Erythrocytosis 25
Erythrocytosis, Familial 55
Familiar Polycythemia 12
Familial Polycythemia 25
Polycythemia Vera 73

Classifications:

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


External Ids:

Disease Ontology 12 DOID:10780
ICD10 33 D75.0
ICD9CM 35 289.6
MeSH 44 C536842
NCIt 50 C26955
UMLS 73 C0152264
Sources

Summaries for Primary Polycythemia

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Genetics Home Reference : 25 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 dizziness, fatigue and headache. 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 hematopoietic system

Sources

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

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 31.2 EGLN1 EPAS1 EPO EPOR VHL
2 polycythemia vera 31.0 EPO EPOR IL3 JAK2
3 erythrocytosis, familial, 1 30.6 EPO EPOR IL3 JAK2
4 thrombocytosis 28.5 EPO IL3 JAK2
5 polycythemia 25.8 EGLN1 EPAS1 EPO EPOR IL3 JAK2
6 erythrocytosis, familial, 3 12.3
7 erythrocytosis, familial, 4 12.3
8 neonatal anemia 10.2 EPO EPOR
9 autosomal dominant secondary polycythemia 10.2 EGLN1 EPAS1
10 ewing's family of tumors 10.1 EPO EPOR
11 congenital hemolytic anemia 9.9 EPO IL3
12 pancytopenia 9.8 EPO IL3
13 anemia of prematurity 9.8 EPO EPOR IL3
14 acute mountain sickness 9.8 EGLN1 VHL
15 sporadic pheochromocytoma 9.8 EPAS1 VHL
16 retinal hemangioblastoma 9.8 EPAS1 VHL
17 deficiency anemia 9.7 EPO EPOR IL3
18 diamond-blackfan anemia 9.7 EPO EPOR IL3
19 splenomegaly 9.6 EPO JAK2
20 phosphatase, acid, of tissues 9.6
21 lymphoma, hodgkin, classic 9.6
22 lymphoma, non-hodgkin, familial 9.6
23 leukemia 9.6
24 lymphoma 9.6
25 myeloid leukemia 9.6
26 neuropathy 9.6
27 hemangioblastoma 9.5 EPO EPOR VHL
28 hypoxia 9.4 EGLN1 EPAS1 VHL
29 acquired polycythemia 9.4 EPO EPOR JAK2
30 megakaryocytic leukemia 9.4 IL3 JAK2
31 acute erythroid leukemia 9.3 EPO EPOR JAK2
32 retinitis pigmentosa and erythrocytic microcytosis 9.3 EPO IL3 JAK2
33 refractory anemia 9.3 EPO IL3 JAK2
34 immune system disease 9.2 EPO IL3 JAK2
35 myelofibrosis 9.2 EPO IL3 JAK2
36 leukemia, chronic myeloid 9.2 EPO IL3 JAK2
37 severe congenital neutropenia 9.1 IL3 JAK2
38 bone marrow cancer 8.9 EPO EPOR IL3 JAK2
39 essential thrombocythemia 8.8 EPO EPOR IL3 JAK2
40 myelodysplastic syndrome 8.8 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
Sources

Symptoms & Phenotypes for Primary Polycythemia

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UMLS symptoms related to Primary Polycythemia:


dizziness, fatigue, headache, dyspnea on exertion

MGI Mouse Phenotypes related to Primary Polycythemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.88 EPOR EGLN1 JAK2 EPAS1 VHL EPO
2 hematopoietic system MP:0005397 9.85 EPO EPOR EGLN1 JAK2 EPAS1 VHL
3 cardiovascular system MP:0005385 9.83 EPO EPOR EGLN1 EPAS1 VHL
4 homeostasis/metabolism MP:0005376 9.8 EPO EPOR EGLN1 JAK2 EPAS1 VHL
5 immune system MP:0005387 9.73 EPO EPOR EGLN1 JAK2 EPAS1 VHL
6 liver/biliary system MP:0005370 9.63 EPOR EGLN1 JAK2 EPAS1 VHL EPO
7 respiratory system MP:0005388 9.26 EPO EPOR EGLN1 EPAS1
8 skeleton MP:0005390 9.02 EPO EGLN1 JAK2 EPAS1 VHL
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 263)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 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,Not Applicable 55-98-1 2478
5
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 498142 38904
6
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
7
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 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 99210-65-8, 215647-85-1
12
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
13
Ondansetron Approved Phase 3,Phase 1,Phase 2,Not Applicable 99614-02-5 4595
14
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
15
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
16
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
17
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
18
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Not Applicable 93-14-1 3516
19
Morphine Approved, Investigational Phase 3,Not Applicable 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 3,Phase 1,Not Applicable 148-82-3 4053 460612
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,Not Applicable
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,Not Applicable
40 Excitatory Amino Acid Antagonists Phase 3
41 Excitatory Amino Acids Phase 3
42 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
43 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1,Not Applicable
44 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
45 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable
46 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Not Applicable
47 Dermatologic Agents Phase 3,Phase 2,Phase 1,Not Applicable
48 Anti-Bacterial Agents Phase 3,Phase 1,Phase 2,Not Applicable
49 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
50 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 246)
# 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 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
21 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
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 Open Label Ruxolitinib (INCB018424) in Patients With Myelofibrosis and Post Polycythemia Vera/Essential Thrombocythemia Myelofibrosis Completed NCT00509899 Phase 1, Phase 2 Ruxolitinib
45 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
46 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
47 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
48 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
49 Efficacy and Safety of Simtuzumab in Adults With Primary, Post Polycythemia Vera or Post Essential Thrombocythemia Myelofibrosis Completed NCT01369498 Phase 2 Simtuzumab;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 73 / NDF-RT 51 :


Cochrane evidence based reviews: polycythemia, primary familial and congenital

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:

41
Myeloid, Bone, Bone Marrow, Lung, Heart, Brain, T Cells
Sources

Publications for Primary Polycythemia

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Articles related to Primary Polycythemia:

(show all 28)
# Title Authors Year
1
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. ( 29514032 )
2018
2
Identification of JAK2 mutations in canine primary polycythemia. ( 21320566 )
2011
3
[Mutations in hypoxia-inducible factor and its regulatory molecules in familial erythrocytosis]. ( 19915370 )
2009
4
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. ( 18184961 )
2008
5
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis. ( 18508787 )
2008
6
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway. ( 18711622 )
2008
7
Overexpression of SOCS-2 and SOCS-3 genes reverses erythroid overgrowth and IGF-I hypersensitivity of primary polycythemia vera (PV) cells. ( 17325857 )
2007
8
Polycythemia vera and other primary polycythemias. ( 15725900 )
2005
9
Isolated trochlear nerve palsy as a presenting feature of primary polycythemia rubra vera. ( 15180853 )
2004
10
Concomitant primary polycythemia vera and follicle center cell non-Hodgkin lymphoma: a case report and review of the literature. ( 12533050 )
2002
11
A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. ( 11929803 )
2002
12
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. ( 10498627 )
1999
13
A human erythropoietin receptor gene mutant causing familial erythrocytosis is associated with deregulation of the rates of Jak2 and Stat5 inactivation. ( 9923445 )
1999
14
Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. ( 9649565 )
1998
15
Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. ( 9192789 )
1997
16
The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia. ( 9394420 )
1997
17
Sensory ataxic neuropathy with axonal stasis in a case of primary polycythemia : electrophysiological and morphological study. ( 29542649 )
1996
18
Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. ( 8174675 )
1994
19
Familial erythrocytosis genetically linked to erythropoietin receptor gene. ( 8093406 )
1993
20
Diagnosis of canine primary polycythemia and management with hydroxyurea. ( 7061327 )
1982
21
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. ( 996426 )
1976
22
Activity and intracellular localization of lysosomal acid phosphatase in lymphocytes from patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia. ( 1025804 )
1976
23
Daraprim in the treatment of primary polycythemia. ( 13716341 )
1960
24
Blood basophils in primary polycythemia. ( 14400719 )
1959
25
Radioactive phosphorus in the treatment of primary polycythemia (vera). ( 13359507 )
1956
26
Evaluation of radiophosphorus therapy in primary polycythemia. ( 14850278 )
1951
27
The therapeutic application of radioactive phosphorus with special reference to the treatment of primary polycythemia and chronic myeloid leukemia. ( 15407496 )
1949
28
Radiophosphorus as the treatment of choice in primary polycythemia. ( 20998219 )
1946
Sources

Variations for Primary Polycythemia

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ClinVar genetic disease variations for Primary Polycythemia:

6
(show top 50) (show all 506)
# Gene Variation Type Significance SNP ID Assembly Location
1 EGLN1 NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser) single nucleotide variant Benign rs12097901 GRCh37 Chromosome 1, 231557255: 231557255
2 EGLN1 NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser) single nucleotide variant Benign rs12097901 GRCh38 Chromosome 1, 231421509: 231421509
3 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh37 Chromosome 1, 231557623: 231557623
4 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh38 Chromosome 1, 231421877: 231421877
5 EGLN1 NM_022051.2(EGLN1): c.471G> C (p.Gln157His) single nucleotide variant Benign/Likely benign rs61750991 GRCh37 Chromosome 1, 231557164: 231557164
6 EGLN1 NM_022051.2(EGLN1): c.471G> C (p.Gln157His) single nucleotide variant Benign/Likely benign rs61750991 GRCh38 Chromosome 1, 231421418: 231421418
7 EPOR NM_000121.3(EPOR): c.1462C> T (p.Pro488Ser) single nucleotide variant Likely benign rs142094773 GRCh38 Chromosome 19, 11378049: 11378049
8 EPOR NM_000121.3(EPOR): c.1462C> T (p.Pro488Ser) single nucleotide variant Likely benign rs142094773 GRCh37 Chromosome 19, 11488725: 11488725
9 EPOR NM_000121.3(EPOR): c.1310G> A (p.Arg437His) single nucleotide variant Likely benign rs62638744 GRCh38 Chromosome 19, 11378201: 11378201
10 EPOR NM_000121.3(EPOR): c.1310G> A (p.Arg437His) single nucleotide variant Likely benign rs62638744 GRCh37 Chromosome 19, 11488877: 11488877
11 EGLN1 NM_022051.2(EGLN1): c.*2598G> A single nucleotide variant Likely benign rs77496832 GRCh38 Chromosome 1, 231363813: 231363813
12 EGLN1 NM_022051.2(EGLN1): c.*2598G> A single nucleotide variant Likely benign rs77496832 GRCh37 Chromosome 1, 231499559: 231499559
13 EGLN1 NM_022051.2(EGLN1): c.*2416_*2419delTTGT deletion Likely benign rs574848765 GRCh38 Chromosome 1, 231363992: 231363995
14 EGLN1 NM_022051.2(EGLN1): c.*2416_*2419delTTGT deletion Likely benign rs574848765 GRCh37 Chromosome 1, 231499738: 231499741
15 EGLN1 NM_022051.2(EGLN1): c.*2235C> G single nucleotide variant Likely benign rs191867 GRCh38 Chromosome 1, 231364176: 231364176
16 EGLN1 NM_022051.2(EGLN1): c.*2235C> G single nucleotide variant Likely benign rs191867 GRCh37 Chromosome 1, 231499922: 231499922
17 EGLN1 NM_022051.2(EGLN1): c.*2061C> G single nucleotide variant Benign rs116262857 GRCh38 Chromosome 1, 231364350: 231364350
18 EGLN1 NM_022051.2(EGLN1): c.*2061C> G single nucleotide variant Benign rs116262857 GRCh37 Chromosome 1, 231500096: 231500096
19 EGLN1 NM_022051.2(EGLN1): c.*2044G> A single nucleotide variant Uncertain significance rs886046096 GRCh38 Chromosome 1, 231364367: 231364367
20 EGLN1 NM_022051.2(EGLN1): c.*2044G> A single nucleotide variant Uncertain significance rs886046096 GRCh37 Chromosome 1, 231500113: 231500113
21 EGLN1 NM_022051.2(EGLN1): c.*1965A> G single nucleotide variant Uncertain significance rs185322052 GRCh38 Chromosome 1, 231364446: 231364446
22 EGLN1 NM_022051.2(EGLN1): c.*1965A> G single nucleotide variant Uncertain significance rs185322052 GRCh37 Chromosome 1, 231500192: 231500192
23 EGLN1 NM_022051.2(EGLN1): c.*1802_*1803dupAA duplication Uncertain significance rs541569859 GRCh37 Chromosome 1, 231500354: 231500355
24 EGLN1 NM_022051.2(EGLN1): c.*1802_*1803dupAA duplication Uncertain significance rs541569859 GRCh38 Chromosome 1, 231364608: 231364609
25 EGLN1 NM_022051.2(EGLN1): c.*1434_*1436delCTT deletion Likely benign rs201012894 GRCh37 Chromosome 1, 231500721: 231500723
26 EGLN1 NM_022051.2(EGLN1): c.*1434_*1436delCTT deletion Likely benign rs201012894 GRCh38 Chromosome 1, 231364975: 231364977
27 EGLN1 NM_022051.2(EGLN1): c.*1010C> T single nucleotide variant Uncertain significance rs886046100 GRCh37 Chromosome 1, 231501147: 231501147
28 EGLN1 NM_022051.2(EGLN1): c.*1010C> T single nucleotide variant Uncertain significance rs886046100 GRCh38 Chromosome 1, 231365401: 231365401
29 EGLN1 NM_022051.2(EGLN1): c.*663C> T single nucleotide variant Uncertain significance rs375652885 GRCh37 Chromosome 1, 231501494: 231501494
30 EGLN1 NM_022051.2(EGLN1): c.*663C> T single nucleotide variant Uncertain significance rs375652885 GRCh38 Chromosome 1, 231365748: 231365748
31 EGLN1 NM_022051.2(EGLN1): c.*555_*559delAAAAG deletion Uncertain significance rs886046105 GRCh38 Chromosome 1, 231365852: 231365856
32 EGLN1 NM_022051.2(EGLN1): c.*555_*559delAAAAG deletion Uncertain significance rs886046105 GRCh37 Chromosome 1, 231501598: 231501602
33 EGLN1 NM_022051.2(EGLN1): c.1272C> T (p.Asp424=) single nucleotide variant Benign/Likely benign rs61734647 GRCh38 Chromosome 1, 231366420: 231366420
34 EGLN1 NM_022051.2(EGLN1): c.1272C> T (p.Asp424=) single nucleotide variant Benign/Likely benign rs61734647 GRCh37 Chromosome 1, 231502166: 231502166
35 EGLN1 NM_022051.2(EGLN1): c.359C> T (p.Pro120Leu) single nucleotide variant Uncertain significance rs796280222 GRCh38 Chromosome 1, 231421530: 231421530
36 EGLN1 NM_022051.2(EGLN1): c.359C> T (p.Pro120Leu) single nucleotide variant Uncertain significance rs796280222 GRCh37 Chromosome 1, 231557276: 231557276
37 EGLN1 NM_022051.2(EGLN1): c.253C> G (p.Pro85Ala) single nucleotide variant Uncertain significance rs886046111 GRCh38 Chromosome 1, 231421636: 231421636
38 EGLN1 NM_022051.2(EGLN1): c.253C> G (p.Pro85Ala) single nucleotide variant Uncertain significance rs886046111 GRCh37 Chromosome 1, 231557382: 231557382
39 EGLN1 NM_022051.2(EGLN1): c.53G> A (p.Arg18Gln) single nucleotide variant Uncertain significance rs886046112 GRCh38 Chromosome 1, 231421836: 231421836
40 EGLN1 NM_022051.2(EGLN1): c.53G> A (p.Arg18Gln) single nucleotide variant Uncertain significance rs886046112 GRCh37 Chromosome 1, 231557582: 231557582
41 EGLN1 NM_022051.2(EGLN1): c.-516A> C single nucleotide variant Uncertain significance rs886046119 GRCh37 Chromosome 1, 231558150: 231558150
42 EGLN1 NM_022051.2(EGLN1): c.-516A> C single nucleotide variant Uncertain significance rs886046119 GRCh38 Chromosome 1, 231422404: 231422404
43 EGLN1 NM_022051.2(EGLN1): c.-655G> A single nucleotide variant Uncertain significance rs886046121 GRCh37 Chromosome 1, 231558289: 231558289
44 EGLN1 NM_022051.2(EGLN1): c.-655G> A single nucleotide variant Uncertain significance rs886046121 GRCh38 Chromosome 1, 231422543: 231422543
45 EGLN1 NM_022051.2(EGLN1): c.-1632_-1631delAG deletion Likely benign rs145140638 GRCh38 Chromosome 1, 231423519: 231423520
46 EGLN1 NM_022051.2(EGLN1): c.-694C> T single nucleotide variant Uncertain significance rs886046122 GRCh37 Chromosome 1, 231558328: 231558328
47 EGLN1 NM_022051.2(EGLN1): c.-694C> T single nucleotide variant Uncertain significance rs886046122 GRCh38 Chromosome 1, 231422582: 231422582
48 EGLN1 NM_022051.2(EGLN1): c.-969G> A single nucleotide variant Uncertain significance rs766034321 GRCh38 Chromosome 1, 231422857: 231422857
49 EGLN1 NM_022051.2(EGLN1): c.-969G> A single nucleotide variant Uncertain significance rs766034321 GRCh37 Chromosome 1, 231558603: 231558603
50 EGLN1 NM_022051.2(EGLN1): c.-1609G> A single nucleotide variant Likely benign rs41303113 GRCh38 Chromosome 1, 231423497: 231423497
Sources

Expression for Primary Polycythemia

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

Pathways for Primary Polycythemia

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Cellular Senescence (REACTOME) 66
Show member pathways
 12.81 EGLN1 EPAS1 EPO VHL
2
PI3K-Akt signaling pathway 37
Show member pathways
 12.64 EPO EPOR IL3 JAK2
3
Beta-Adrenergic Signaling 64
Show member pathways
 12.47 EPO EPOR JAK2
4
Regulation of IFNA signaling 66
Show member pathways
 12.3 EPO EPOR IL3 JAK2
5
ErbB signaling pathway 1 37
Show member pathways
 12.17 EGLN1 EPAS1 VHL
6
Pathways in cancer 37
11.89 EGLN1 EPAS1 EPO EPOR IL3 JAK2
7
Kit receptor signaling pathway 1
Show member pathways
 11.76 EPO EPOR IL3 JAK2
8
HIF-1 signaling pathway 37
11.65 EGLN1 EPO VHL
9
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.62 EPO EPOR JAK2
10
Hematopoietic cell lineage 37
11.6 EPO EPOR IL3
11
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.56 EPAS1 VHL
12
HIF-1-alpha transcription factor network 1
11.4 EGLN1 EPO
13
Jak-Stat Signaling Pathway 67
11.4 EPO EPOR IL3 JAK2
14
HIF1Alpha Pathway 64
11.28 EGLN1 EPO VHL
15
Differentiation Pathway 1
11.26 EPO IL3
16
Hematopoietic Stem Cell Differentiation 1
11.25 EPO IL3
17
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.14 EPO EPOR JAK2
18
Photodynamic therapy-induced HIF-1 survival signaling 1
11.1 EGLN1 EPO
19
G-protein signaling_K-RAS regulation pathway 22
10.96 EPO EPOR
20
HIF-2-alpha transcription factor network 1
10.79 EGLN1 EPAS1 EPO VHL
21
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
10.73 EPAS1 VHL
Sources

GO Terms for Primary Polycythemia

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

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.58 EPOR IL3 JAK2
2 response to hypoxia GO:0001666 9.5 EGLN1 EPAS1 EPO
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 9.37 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

Sources for Primary 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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