Polycythemia Vera
Description
Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.
Clinical Features
Top most frequent phenotypes and symptoms related to Polycythemia Vera
- Neoplasm
- Visual impairment
- Hypertension
- Hepatomegaly
- Fatigue
- Respiratory insufficiency
- Splenomegaly
- Headache
- Thrombocytopenia
- Abdominal pain
And another 39 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available POLYCYTHEMIA VERA have a estimated incidence of 1.9 per 100k worldwide.— No data available about the known clinical features onset.
Alternative names
Polycythemia Vera Is also known as polycythemia rubra vera, acquired primary erythrocytosis, prv, vaquez disease, osler-vaquez disease, pv.
Researches and researchers
Doctors, researchs, and experts related to Polycythemia Vera extracted from public data.
Polycythemia Vera Experts map
Current Researchs and researchers
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Coordinator of research networkPARIS — Pr Albert NAJMAN
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Institution/s:
— CHU Paris Est - Hôpital Saint-Antoine -
Research area/topic::
French research group on familial lymphoproliferative syndromes
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Institution/s:
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Coordinator of expert centre - Clinical expert - Coordinator of research networkPARIS — Pr Jean-Jacques KILADJIAN
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Institution/s:
— CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
— CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis -
Research area/topic::
FIM: French Intergroup of Myeloproliferative syndromes
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Institution/s:
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Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research projectAACHEN — Pr Steffen KOSCHMIEDER
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Institution/s:
— Universitätsklinikum Aachen
— Universitätsklinikum Aachen -
Research area/topic::
MPN Registry: Clinical MPN Registry
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Institution/s:
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Investigator of research project - Director of departmentFREIBURG — Pr Heike PAHL
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Institution/s:
— Zentrum für Klinische Forschung am Universitätsklinikum Freiburg -
Research area/topic::
The role of transcription factor NF-E2 in the pathophysiology of polycythemia vera
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Institution/s:
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Clinical expert - Principal investigator of clinical trial - Investigator of research projectULM — Pr Konstanze DÖHNER
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Institution/s:
— Universitätsklinikum Ulm am Oberen Eselsberg -
Research area/topic::
Prognostic impact of the JAK2 V617F mutation
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Institution/s:
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Investigator of research projectULM — Dr Frank STEGELMANN
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Institution/s:
— Universitätsklinikum Ulm am Oberen Eselsberg -
Research area/topic::
Prognostic impact of the JAK2 V617F mutation
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Institution/s:
Polycythemia Vera Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).
RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...)
View the complete list with 32 more genes
Specificity
6 %
Genes
50 % |
![]() By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
TET2
Specificity
100 %
Genes
17 % |
![]() By CGC Genetics (Portugal).
TET2
Specificity
100 %
Genes
17 % |
![]() By CGC Genetics (Portugal).
TET2
Specificity
100 %
Genes
17 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
TET2
Specificity
100 %
Genes
17 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, ASXL1 , (...)
View the complete list with 33 more genes
Specificity
6 %
Genes
50 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
TET2
Specificity
100 %
Genes
17 % |
![]() By CeGaT GmbH (Germany).
VHL, VWF, ADAMTS13, TET2, DSG1, ENTPD1, ETV6, F10, F11, F12, F13A1, F2, F5, F8, SERPINC1, SERPINE1, PDGFRB
Specificity
6 %
Genes
17 % |
You can get up to 369 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET MESH OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OCULOAURICULAR SYNDROME; OCACS DIAMOND-BLACKFAN ANEMIA 12; DBA12 JOUBERT SYNDROME 32; JBTS32 HEMOCHROMATOSIS, TYPE 4; HFE4