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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

73.6th percentile

Trials

2

Interventional, condition-specific

Researchers

1,408

Distinct authors in sample

Gene link

RUNX1

Definitive

Readiness

4/6

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.”

4/6 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 characterisedPresent

    27 HPO annotations (e.g. Bruising susceptibility; Thrombocytopenia; Decreased total neutrophil count) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  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)

27

Associated phenotypes · MONDO:0011071

  • Bruising susceptibility
  • Thrombocytopenia
  • Decreased total neutrophil count
  • Abnormal dense granule content
  • Impaired platelet aggregation

Showing 5 of 27 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

397 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).

275 in the last 10 years · medium confidence · 73.6th 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 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th 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

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Familial platelet disorder with associated myeloid malignancy — 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.

"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