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ORPHA:420611

Transient myeloproliferative syndrome

low confidenceDisorder

Also known as: Transient myeloproliferative disease · TMD · Transient abnormal myelopoiesis

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,111

Trials

4

Interventional, condition-specific

Researchers

1,278

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, , jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (11)

MST · TAM · Transient abnormal myelopoiesis associated with Down syndrome · leukemia, transient, of Down syndrome · transient abnormal myelopoiesis · transient leukaemia · transient leurkemia of Down syndrome · transient myeloproliferative disease · transient myeloproliferative disorder · transient myeloproliferative syndrome · transient myeloproliferative syndrome (disease)

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,111 matched papers (537 in last 10 years) Source

  3. Phenotype characterisedPresent

    3 HPO annotations (e.g. Transient myeloproliferative syndrome; Increased total leukocyte count; Down syndrome) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

3

Associated phenotypes · MONDO:0008040

  • Transient myeloproliferative syndrome
  • Increased total leukocyte count
  • Down syndrome

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0008040

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,111

1,111 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,111 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

537 in the last 10 years · low confidence

Phrase hits: 1,111 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,278

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Ito E7 papers · 2026

    Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

    Papers in Europe PMC
  2. 02
    Terui K7 papers · 2026

    Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

    Papers in Europe PMC
  3. 03
    Chou ST6 papers · 2025

    Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  4. 04
    Hasegawa D6 papers · 2026

    Department of Pediatrics, St. Luke's International Hospital, 9-1, Akashi-cho, Chuo-ku, Tokyo, 104-8560, Japan.

    Papers in Europe PMC
  5. 05
    Klusmann JH6 papers · 2026

    Clinic for Pediatrics, University Hospital Frankfurt, Frankfurt, Germany.

    Papers in Europe PMC
  6. 06
    Roberts I6 papers · 2026

    Department of Paediatrics and MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.

    Papers in Europe PMC
  7. 07
    Takasaki K6 papers · 2025

    Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  8. 08
    Toki T6 papers · 2026

    Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

    Papers in Europe PMC
  9. 09
    Yokosuka T6 papers · 2026

    Division of Hematology/Oncology, Kanagawa Children's Medical Center, Yokohama, Japan.

    Papers in Europe PMC
  10. 10
    Bartram J5 papers · 2026

    Department of Haematology, Great Ormond Street Hospital for Children, London, United Kingdom.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (5)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Transient myeloproliferative syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Transient myeloproliferative syndrome" OR "Transient myeloproliferative disease" OR "Transient abnormal myelopoiesis" OR "Transient abnormal myelopoiesis associated with Down syndrome" OR "leukemia, transient, of Down syndrome" OR "leukemia, transient, of the Down syndrome" OR "transient leukaemia" OR "transient leurkemia of Down syndrome" OR "transient leurkemia of the Down syndrome" OR "transient myeloproliferative disorder" OR "transient myeloproliferative syndrome (disease)"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Myeloproliferative Syndrome, Transient

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Transient myeloproliferative syndrome" OR "Transient myeloproliferative disease" OR "Transient abnormal myelopoiesis" OR "Transient abnormal myelopoiesis associated with Down syndrome" OR "leukemia, transient, of Down syndrome" OR "leukemia, transient, of the Down syndrome" OR "transient leukaemia" OR "transient leurkemia of Down syndrome" OR "transient leurkemia of the Down syndrome" OR "transient myeloproliferative disorder" OR "transient myeloproliferative syndrome (disease)" OR "Myeloproliferative Syndrome, Transient"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: TMD; MST; TAM

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1111) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T15:48:54.395Z