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ORPHA:71290

Familial platelet disorder with associated myeloid malignancy

medium confidenceDisorder

Also known as: FPD/AML · FPDMM · FPS/AML · Familial platelet disorder with predisposition to acute myelogenous leukemia · Familial platelet disorder with predisposition to myeloid malignancy · Familial platelet disorder with propensity to acute myeloid leukemia · Familial thrombocytopenia with propensity to acute myelogenous leukemia · RUNX1 familial platelet disorder · RUNX1 familial platelet disorder with associated myeloid malignancies · RUNX1-FPD · RUNX1-FPDMM

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

Publications

397

83.5th percentile

Trials

2

Interventional, condition-specific

Researchers

1,408

Distinct authors in sample

Gene link

RUNX1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

hereditary thrombocytopenia and hematologic cancer predisposition syndrome

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — RUNX1

  2. LiteraturePresent

    397 matched papers (275 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 recruiting in sample)

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?

Yes — we know a specific gene responsible (RUNX1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

397

397 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

397 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

275 in the last 10 years · medium confidence · 83.5th percentile (publications denominator)

Phrase hits: 397 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,408

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
    Liu PP14 papers · 2026

    Oncogenesis and Development Section, Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

    Papers in Europe PMC
  2. 02
    Bresciani E13 papers · 2026

    Oncogenesis and Development Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

    Papers in Europe PMC
  3. 03
    Godley LA13 papers · 2026

    Section of Hematology/Oncology, Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL;

    Papers in Europe PMC
  4. 04
    Craft K10 papers · 2026

    Oncogenesis and Development Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

    Papers in Europe PMC
  5. 05
    Deuitch NT10 papers · 2026

    Oncogenesis and Development Section, Translational and Functional Genomics Branch, Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

    Papers in Europe PMC
  6. 06
    Chong S9 papers · 2026

    Oncogenesis and Development Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.

    Papers in Europe PMC
  7. 07
    Ripperger T9 papers · 2026

    Department of Human Genetics, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  8. 08
    Liu P8 papers · 2026

    Translational and Functional Genomics, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and.

    Papers in Europe PMC
  9. 09
    Brown AL7 papers · 2025

    Centre for Cancer Biology, SA Pathology & University of South Australia, Adelaide, Australia.

    Papers in Europe PMC
  10. 10
    Favier R7 papers · 2023

    INSERM UMR 1170, Gustave Roussy, Université Paris-Saclay, Equipe Labellisée par la Ligue Nationale Contre le Cancer, Villejuif, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Familial platelet disorder with associated myeloid malignancy" OR "FPD/AML" OR "FPDMM" OR "FPS/AML" OR "Familial platelet disorder with predisposition to acute myelogenous leukemia" OR "Familial platelet disorder with predisposition to myeloid malignancy" OR "Familial platelet disorder with propensity to acute myeloid leukemia" OR "Familial thrombocytopenia with propensity to acute myelogenous leukemia" OR "RUNX1 familial platelet disorder" OR "RUNX1 familial platelet disorder with associated myeloid malignancies" OR "RUNX1-FPD" OR "RUNX1-FPDMM" OR "hereditary thrombocytopenia and hematologic cancer predisposition syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

"Familial platelet disorder with associated myeloid malignancy" OR "FPD/AML" OR "FPDMM" OR "FPS/AML" OR "Familial platelet disorder with predisposition to acute myelogenous leukemia" OR "Familial platelet disorder with predisposition to myeloid malignancy" OR "Familial platelet disorder with propensity to acute myeloid leukemia" OR "Familial thrombocytopenia with propensity to acute myelogenous leukemia" OR "RUNX1 familial platelet disorder" OR "RUNX1 familial platelet disorder with associated myeloid malignancies" OR "RUNX1-FPD" OR "RUNX1-FPDMM" OR "hereditary thrombocytopenia and hematologic cancer predisposition syndrome" OR "Platelet Disorder, Familial, with Associated Myeloid Malignancy"

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: 2 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (397) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T01:41:37.526Z