Essential Thrombocythemia

Description

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.

Clinical Features

Top most frequent phenotypes and symptoms related to Essential Thrombocythemia

  • Pain
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system
  • Respiratory distress
  • Splenomegaly
  • Headache
  • Dyspnea
  • Hepatosplenomegaly
  • Leukemia

And another 30 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Essential Thrombocythemia Is also known as thrombocytosis 1, essential thrombocytosis, et.

Researches and researchers

Doctors, researchs, and experts related to Essential Thrombocythemia extracted from public data.

Essential Thrombocythemia 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::

      Molecular heterogeneity in Essential Thrombycythemia (subclassification by gene expression analysis and ELISA)


  • 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


Essential Thrombocythemia 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
10 %
Genes
72 %
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
15 %
Myelodysplastic Syndrome (sequence analysis of TET2 gene).

By CGC Genetics (Portugal).

TET2
Specificity
100 %
Genes
15 %
Myelodysplastic syndrome (mutations on TET2 gene).

By CGC Genetics (Portugal).

TET2
Specificity
100 %
Genes
15 %
Myelodysplastic syndrome susceptibility.

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

TET2
Specificity
100 %
Genes
15 %
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
10 %
Genes
72 %
Myelodysplastic syndrome, somatic.

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

TET2
Specificity
100 %
Genes
15 %
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
15 %

You can get up to 559 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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