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ORPHA:520

Acute promyelocytic leukemia

low confidenceDisorder

Also known as: AML M3 · AML with t(15;17)(q22;q12);(PML/RARalpha) and variants · APML · Acute myeloblastic leukemia 3 · Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants

Publications

52,101

Trials

91

Interventional, condition-specific

Researchers

1,176

Distinct authors in sample

Gene link

RARA

No Known Disease Relationship

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (19)

AML with t(15;17)(q22;q12) · APL · APML - acute promyelocytic leukaemia · APML - acute promyelocytic leukemia · FAB M3 · acute myeloblastic leukaemia 3 · acute myeloblastic leukemia 3 · acute myeloid leukaemia with t(15;17)(q22;q12);(PML/RARalpha) and variants · acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants · acute promyelocytic leukaemia with PML-rara · acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-rara · acute promyelocytic leukaemia with t(15;17)(q22;q12); PML/rara · acute promyelocytic leukemia · acute promyelocytic leukemia with PML-rara · acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara · acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara · leukemia, acute promyelocytic, somatic · promyelocytic leukaemia · promyelocytic leukemia

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.”

6/6 stages with a signal

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

  1. Gene identifiedPartial

    No Known Disease Relationship — RARA

  2. LiteraturePresent

    52,101 matched papers (25,080 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 designationPresent

    6 FDA designations (4 FDA orphan-indication approvals) — e.g. menatetrenone Source

  6. Interventional trialPresent

    91 matched on ClinicalTrials.gov (11 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?

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:0012883

  • 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)

6

Designations · 4 with FDA orphan-indication approval

  • FDA menatetrenoneAcute Promyelocytic Leukemia · 2010-11-02 · Not FDA Approved for Orphan Indication
  • FDA TamibaroteneAcute Promyelocytic Leukemia APL · 2007-10-11 · Not FDA Approved for Orphan Indication
  • FDA PhenylbutyrateAcute Promyelocytic Leukemia · 2000-01-19 · Not FDA Approved for Orphan Indication
  • FDA AlitretinoinAcute Promyelocytic Leukemia · 1992-04-10 · Not FDA Approved for Orphan Indication
  • FDA Arsenic trioxide (Trisenox)Acute Promyelocytic Leukemia · 1998-03-03
  • FDA Tretinoin (Vesanoid)Acute Promyelocytic Leukemia · 1990-10-24

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

35

Drugs / clinical candidates · MONDO_0012883

CTD chemicals (MyDisease.info)

56 associated chemicals · 518 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 2-(2-chloro-4-iodophenylamino)-N-cyclopropylmethoxy-3,4-difluorobenzamide · therapeutic
  • 4'-methoxy licoflavanone · therapeutic
  • Aclarubicin · therapeutic
  • alpha-Tocopherol · therapeutic
  • alpinumisoflavone · therapeutic
  • alvocidib · therapeutic
  • Anthracyclines · therapeutic
  • Antimony Potassium Tartrate · therapeutic
  • antimony trioxide · therapeutic
  • Antineoplastic Agents · therapeutic
  • Arsenic · therapeutic
  • arsenic disulfide · therapeutic

Pathways: Citrate cycle (TCA cycle); Steroid biosynthesis; Cysteine and methionine metabolism; Glutathione metabolism; Arachidonic acid metabolism; Pyruvate metabolism; Folate biosynthesis; Metabolic pathways

MyDisease.info · MONDO:0012883

Literature

Is anyone studying this?

52,101

52,101 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

52,101 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).

25,080 in the last 10 years · low confidence

Phrase hits: 39,684 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,176

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
    Zhang Y16 papers · 2026

    Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China.

    Papers in Europe PMC
  2. 02
    Wang Y12 papers · 2026

    National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, People's Republic of China; Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou.

    Papers in Europe PMC
  3. 03
    Chen X9 papers · 2026

    Precision Medicine Center, Beijing Lu Daopei Institute of Hematology, Beijing, China.

    Papers in Europe PMC
  4. 04
    Wang H9 papers · 2026

    Department of Hematology, Affiliated Hospital of Xuzhou Medical University, Xuzhou, China.

    Papers in Europe PMC
  5. 05
    Liu H7 papers · 2026

    Precision Medicine Center, Beijing Lu Daopei Institute of Hematology, Beijing, China; Division of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang. starliu@pku.edu.cn.

    Papers in Europe PMC
  6. 06
    Liu Y7 papers · 2026

    Department of Hematology, The Sixth Hospital Affiliated to Wenzhou Medical University, Wenzhou, 323000, China.

    Papers in Europe PMC
  7. 07
    Wang X7 papers · 2026

    Department of Hematology, Liaoning Key Laboratory of Hematopoietic Stem Cell Transplantation and Translational Medicine, Liaoning Medical Center for Hematopoietic Stem Cell Transplantation, Second Hospital of Dalian Medical University, No. 467, Zhongshan Road, ShaHeKou district, 116027, Dalian, China. wangxjdmu@dmu.edu.cn.

    Papers in Europe PMC
  8. 08
    Ma X6 papers · 2026

    Division of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China.

    Papers in Europe PMC
  9. 09
    Wang L6 papers · 2026

    National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, People's Republic of China; Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou.

    Papers in Europe PMC
  10. 10
    Zhang Z6 papers · 2026

    Department of Blood Transfusion, First Affiliated Hospital of Nanchang University, Jiangxi Key Laboratory of transfusion, Institute of Transfusion, Jiangxi Academy of Clinical Medical Sciences, Jiangxi Medical College, Nanchang University, Nanchang, Jiangxi. ndyfy02270@ncu.edu.cn.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

91

interventional trials for this specific condition

91 interventional trials matched this specific condition name; 11 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

91 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.4th percentile).

low confidence · 98.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

17 observational studies match 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 26 · after dedupe 26 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 26 · dropped 0 · fetched 2026-07-29

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 (26)

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 Acute promyelocytic 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.

("Acute promyelocytic leukemia" OR "AML M3" OR "AML with t(15;17)(q22;q12);(PML/RARalpha) and variants" OR "Acute myeloblastic leukemia 3" OR "Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" OR "AML with t(15;17)(q22;q12)" OR "APML - acute promyelocytic leukaemia" OR "APML - acute promyelocytic leukemia" OR "FAB M3" OR "acute myeloblastic leukaemia 3" OR "acute myeloid leukaemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" OR "acute promyelocytic leukaemia with PML-rara" OR "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-rara" OR "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML/rara" OR "acute promyelocytic leukemia with PML-rara" OR "acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara" OR "acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara" OR "leukemia, acute promyelocytic, somatic" OR "promyelocytic leukaemia" OR "promyelocytic leukemia") OR ("RARA" OR "RARA syndrome" OR "RARA-related")

Run this search on Europe PMC

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

"Acute promyelocytic leukemia" OR "AML M3" OR "AML with t(15;17)(q22;q12);(PML/RARalpha) and variants" OR "Acute myeloblastic leukemia 3" OR "Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" OR "AML with t(15;17)(q22;q12)" OR "APML - acute promyelocytic leukaemia" OR "APML - acute promyelocytic leukemia" OR "FAB M3" OR "acute myeloblastic leukaemia 3" OR "acute myeloid leukaemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" OR "acute promyelocytic leukaemia with PML-rara" OR "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-rara" OR "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML/rara" OR "acute promyelocytic leukemia with PML-rara" OR "acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara" OR "acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara" OR "leukemia, acute promyelocytic, somatic" OR "promyelocytic leukaemia" OR "promyelocytic leukemia"

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: 91 interventional · 17 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: APML; APL

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (52101) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:09:21.603Z