Rare diseases · Sign or symptom

Transient myeloproliferative syndrome

HP:0005534

What it means

A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.

Rare diseases that can present with this1

Sometimes5–29%

1

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: TMD · Transient leukaemia of Down syndrome · Transient leukemia of Down syndrome · Transient myeloproliferative disorder

Transient myeloproliferative syndrome

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.