Erythrocytosis, familial, 3

MONDO:0012353

Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.

Also known as: EGLN1 familial polycythemia, erythrocytosis, familial, 3, erythrocytosis, familial, type 3, familial polycythemia caused by mutation in EGLN1, ECYT3

1 clinical trial for this condition and its sub-types, 0 tagged with Erythrocytosis, familial, 3 itself.

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Where it sits in the disease tree

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↑ Familial polycythemia (92)

Including sub-types (1) Tagged with Erythrocytosis, familial, 3 (0)

Completed 1

Breath test could replace needles for blood disorder diagnosis

Diagnosis Completed

This study tested a non-invasive breathing technique (CO-rebreathing) to measure red blood cell mass in people with polycythemia, a condition with too many red blood cells. The goal was to see if it works as well as the standard radioactive test. Sixty adults took part, and the r…

Sponsor: Centre Hospitalier Universitaire, Amiens • Aim: Diagnosis

Last updated Jun 26, 2026 19:07 UTC

Erythrocytosis, familial, 3

Where it sits in the disease tree

Breath test could replace needles for blood disorder diagnosis