Essential thrombocythemia

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Essential thrombocythemia

ORPHA:3318Disease

Also called ET · Essential thrombocytosis

What it is

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

Key facts

Prevalence
1-5 / 10 000 (United States)
Age of onset
All ages
Inheritance
Multigenic/multifactorial, Not applicable
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

CALRDisease-causing somatic mutation(s)
JAK2Disease-causing somatic mutation(s)
MPLDisease-causing somatic mutation(s)
SH2B3Disease-causing somatic mutation(s)
TET2Biomarker tested
TP53Biomarker tested

ICD-10 codes

D47.3ICD-10 names this disease exactly

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 6594MEDDRA 10015493MESH D013920MONDO 0005029OMIM 187950OMIM 601977OMIM 614521UMLS C0040028

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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