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.

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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

  • PARIS — Pr Albert NAJMAN

    Coordinator of research network

    • Institution/s:
      — CHU Paris Est - Hôpital Saint-Antoine
    • Research area/topic::

      French research group on familial lymphoproliferative syndromes


  • PARIS — Pr Jean-Jacques KILADJIAN

    Coordinator of expert centre - Clinical expert - Coordinator of research network

    • 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


  • AACHEN — Pr Steffen KOSCHMIEDER

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Aachen
      — Universitätsklinikum Aachen
    • Research area/topic::

      MPN Registry: Clinical MPN Registry


  • FREIBURG — Pr Heike PAHL

    Investigator of research project - Director of department

    • 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


  • ULM — Pr Konstanze DÖHNER

    Clinical expert - Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Ulm am Oberen Eselsberg
    • Research area/topic::

      Prognostic impact of the JAK2 V617F mutation


  • ULM — Dr Frank STEGELMANN

    Investigator of research project

    • Institution/s:
      — Universitätsklinikum Ulm am Oberen Eselsberg
    • Research area/topic::

      Prognostic impact of the JAK2 V617F mutation



Mendelian

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Polycythemia Vera Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MyeloidDx by NGS.

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 %
TET2 Sequencing.

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 %
Myelodysplastic Syndrome (sequence analysis of TET2 gene).

By CGC Genetics (Portugal).

TET2
Specificity
100 %
Genes
17 %
Myelodysplastic syndrome (mutations on TET2 gene).

By CGC Genetics (Portugal).

TET2
Specificity
100 %
Genes
17 %
Myelodysplastic syndrome susceptibility.

By Centogene AG - the Rare Disease Company (Germany).

TET2
Specificity
100 %
Genes
17 %
Myeloid Tumor Panel.

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 %
Myelodysplastic syndrome, somatic.

By Centogene AG - the Rare Disease Company (Germany).

TET2
Specificity
100 %
Genes
17 %
Platelets, Coagulation disorders Panel.

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 %

We have 369 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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