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.
Genes related to Essential Thrombocythemia
- TET2
- TP53
- JAK2
- MPL
- SH2B3
- CALR
- THPO
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.
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
-
Coordinator of research networkPARIS — Pr Albert NAJMAN
-
Institution/s:
— CHU Paris Est - Hôpital Saint-Antoine -
Research area/topic::
French research group on familial lymphoproliferative syndromes
-
Institution/s:
-
Coordinator of expert centre - Clinical expert - Coordinator of research networkPARIS — Pr Jean-Jacques KILADJIAN
-
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
-
Institution/s:
-
Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research projectAACHEN — Pr Steffen KOSCHMIEDER
-
Institution/s:
— Universitätsklinikum Aachen
— Universitätsklinikum Aachen -
Research area/topic::
MPN Registry: Clinical MPN Registry
-
Institution/s:
-
Investigator of research project - Director of departmentFREIBURG — Pr Heike PAHL
-
Institution/s:
— Zentrum für Klinische Forschung am Universitätsklinikum Freiburg -
Research area/topic::
Molecular heterogeneity in Essential Thrombycythemia (subclassification by gene expression analysis and ELISA)
-
Institution/s:
-
Clinical expert - Principal investigator of clinical trial - Investigator of research projectULM — Pr Konstanze DÖHNER
-
Institution/s:
— Universitätsklinikum Ulm am Oberen Eselsberg -
Research area/topic::
Prognostic impact of the JAK2 V617F mutation
-
Institution/s:
-
Investigator of research projectULM — Dr Frank STEGELMANN
-
Institution/s:
— Universitätsklinikum Ulm am Oberen Eselsberg -
Research area/topic::
Prognostic impact of the JAK2 V617F mutation
-
Institution/s:
Essential Thrombocythemia 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
10 %
Genes
72 % |
![]() 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 % |
![]() By CGC Genetics (Portugal).
TET2
Specificity
100 %
Genes
15 % |
![]() By CGC Genetics (Portugal).
TET2
Specificity
100 %
Genes
15 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
TET2
Specificity
100 %
Genes
15 % |
![]() 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 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
TET2
Specificity
100 %
Genes
15 % |
![]() 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 moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VON WILLEBRAND DISEASE, TYPE 2; VWD2 OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B BRUGADA SYNDROME 7; BRGDA7 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D