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ORPHA:319465

Inherited acute myeloid leukemia

high confidenceDisorder

Also known as: Familial AML · Inherited AML · Pure familial AML · Pure familial acute myeloid leukemia

Publications

209

62.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,533

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, , etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Pure familial acute myeloid leukaemia · familial AML · hereditary acute myeloid leukaemia · hereditary acute myeloid leukemia · inherited AML

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    209 matched papers (140 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Gingival bleeding; Epistaxis; Anemia) Source

  4. Animal modelPresent

    6 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 trialPartial

    None under the specific name; 2487 for broader category acute myeloid leukemia

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)

38

Associated phenotypes · MONDO:0017893

  • Gingival bleeding
  • Epistaxis
  • Anemia
  • Disseminated intravascular coagulation
  • Fatigue

Showing 5 of 38 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

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

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?

209

209 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.

209 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).

140 in the last 10 years · high confidence · 62.2th percentile (publications denominator)

Phrase hits: 209 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,533

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Fitzgibbon J12 papers · 2022

    Centre for Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, United Kingdom

    Papers in Europe PMC
  2. 02
    Churpek JE8 papers · 2023

    Department of Medicine, Comprehensive Cancer Center and Center for Clinical Cancer Genetics, University of Chicago, Chicago, IL 60637, USA.

    Papers in Europe PMC
  3. 03
    Godley LA8 papers · 2024

    Department of Medicine, Comprehensive Cancer Center and Center for Clinical Cancer Genetics, University of Chicago, Chicago, IL 60637, USA.

    Papers in Europe PMC
  4. 04
    Bödör C6 papers · 2021

    1st Department of Pathology and Experimental Cancer Research, MTA-SE Lendulet Molecular Oncohematology Research Group, Semmelweis University, Budapest, Hungary.

    Papers in Europe PMC
  5. 05
    DiNardo CD6 papers · 2021

    Department of Leukemia, The University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.

    Papers in Europe PMC
  6. 06
    Preudhomme C6 papers · 2022

    Univ. Lille, Inserm, CHU Lille, UMR-S 1172 - JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000, Lille, France.

    Papers in Europe PMC
  7. 07
    Tawana K6 papers · 2020

    Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.

    Papers in Europe PMC
  8. 08
    Wang J6 papers · 2021

    Bioinformatics Unit, Barts Cancer Institute, Queen Mary University of London, London, UK.

    Papers in Europe PMC
  9. 09
    Wang SY6 papers · 2024

    Union Clinical Medical College, Fujian Medical University, Fuzhou 350001, P.R. China.

    Papers in Europe PMC
  10. 10
    McReynolds LJ5 papers · 2025

    Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 2,487 trials are registered for acute myeloid leukemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

2,487 interventional trials matched acute myeloid leukemia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: acute myeloid leukemia

2,487

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · 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 (8)

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 Inherited acute myeloid leukemia — 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.

"Inherited acute myeloid leukemia" OR "Familial AML" OR "Inherited AML" OR "Pure familial AML" OR "Pure familial acute myeloid leukemia" OR "Pure familial acute myeloid leukaemia" OR "hereditary acute myeloid leukaemia" OR "hereditary acute myeloid leukemia"

Run this search on Europe PMC

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

"Inherited acute myeloid leukemia" OR "Familial AML" OR "Inherited AML" OR "Pure familial AML" OR "Pure familial acute myeloid leukemia" OR "Pure familial acute myeloid leukaemia" OR "hereditary acute myeloid leukaemia" OR "hereditary acute myeloid leukemia"

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

Parent-category trials query:

"acute myeloid leukemia"

Query health: ok — strategies attempted: phrase; 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

Ingested 2026-07-27T13:27:38.194Z