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ORPHA:514

Acute monoblastic/monocytic leukemia

high confidenceDisorder

Also known as: AML M5 · Acute monoblastic or monocytic leukemia

Publications

10,374

95.4th percentile

Trials

80

Interventional, condition-specific

Researchers

1,174

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of acute myeloid leukemia that is either comprised of more than 80% of monoblasts or 30-80% monoblasts with (pro)monocytic differentiation. It presents with asthenia, pallor, fever, and dizziness. Specific features include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed is t(9;11).

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

acute monoblastic leukaemia and acute monocytic leukaemia · acute monocytic leukaemia (FAB M5B) · acute monocytic leukaemia (FAB M5b) · acute monocytic leukemia · acute monocytic leukemia (FAB M5B) · acute monocytic leukemia (FAB M5b) · acute monocytic leukemia, morphology (morphologic abnormality) · leukemia, monocytic, malignant · monocytic leukemia, acute

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    10,374 matched papers (6,056 in last 10 years) Source

  3. Phenotype characterisedPresent

    22 HPO annotations (e.g. Adult onset; Acute monocytic leukemia; Increased total leukocyte 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

    80 matched on ClinicalTrials.gov (4 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)

22

Associated phenotypes · MONDO:0007896

  • Adult onset
  • Acute monocytic leukemia
  • Increased total leukocyte count
  • Exertional dyspnea
  • Ankle swelling

Showing 5 of 22 — 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

24

Drugs / clinical candidates · MONDO_0007896

CTD chemicals (MyDisease.info)

7 associated chemicals · 14 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 1,3-benzothiazol-2-yl(2-((2-(3-pyridinyl)ethyl)amino)-4-pyrimidinyl)acetonitrile · therapeutic
  • 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one · therapeutic
  • Arsenic Trioxide · therapeutic
  • Cytarabine · therapeutic
  • pyrazolanthrone · therapeutic
  • Resveratrol · therapeutic
  • U 0126 · therapeutic

Pathways: Cysteine and methionine metabolism; Lysine degradation; Metabolic pathways; Transcriptional misregulation in cancer; MicroRNAs in cancer; Methionine degradation; Epigenetic regulation of gene expression; PRC2 methylates histones and DNA

MyDisease.info · MONDO:0007896

Literature

Is anyone studying this?

10,374

10,374 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.

10,374 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).

6,056 in the last 10 years · high confidence · 95.4th percentile (publications denominator)

Phrase hits: 10,374 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,174

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
    Wang Y9 papers · 2026

    Department of Pulmonology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  2. 02
    Liu Y8 papers · 2026

    Department of Hematology, Beijing Hospital, National Center for Gerontology, National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Dahua Road, Dongdan, Dongcheng, District, Beijing 100005, China.

    Papers in Europe PMC
  3. 03
    Li Y7 papers · 2026

    National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Institute of Blood and Marrow Transplantation of Soochow University, Suzhou, China, suzhou, China

    Papers in Europe PMC
  4. 04
    Wang Q6 papers · 2026

    Department of Hematology, The Second Affiliated Hospital of Nanchang University, No. 1 Minde Road, Nanchang, 330006, China.

    Papers in Europe PMC
  5. 05
    Chen X5 papers · 2026

    Department of Physiology, Clinical Anatomy and Reproductive Medicine Application Institute, Hengyang Medical School, University of South China, Hengyang, 421001, Hunan, China.

    Papers in Europe PMC
  6. 06
    Chen Y5 papers · 2026

    Department of Rheumatology and Immunology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, China.

    Papers in Europe PMC
  7. 07
    Li H5 papers · 2026

    Department of Laboratory Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China.

    Papers in Europe PMC
  8. 08
    Wang L5 papers · 2026

    Department of Hematology, The First Hospital of Lanzhou University, Lanzhou, China.

    Papers in Europe PMC
  9. 09
    Wu Y5 papers · 2026

    CAS Key Laboratory of High Magnetic Field and Ion Beam Physical Biology, Anhui Key Laboratory of Environmental Toxicology and Pollution Control Technology, Hefei Institute of Intelligent Agriculture, Institute of Intelligent Machines, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei 230031, China. huangq@ipp.ac.cn.

    Papers in Europe PMC
  10. 10
    Zhang Y5 papers · 2026

    Department of Hematology, Affiliated Hospital of Nantong University, Nantong 226001, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

80

interventional trials for this specific condition

80 interventional trials matched this specific condition name; 4 currently recruiting in our sample. 10 trials are registered for monocytic leukemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

80 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.2th percentile).

high confidence · 98.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: monocytic leukemia

10

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

3 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.

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

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 monoblastic/monocytic 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 monoblastic/monocytic leukemia" OR "AML M5" OR "Acute monoblastic or monocytic leukemia" OR "acute monoblastic leukaemia and acute monocytic leukaemia" OR "acute monocytic leukaemia (FAB M5B)" OR "acute monocytic leukemia" OR "acute monocytic leukemia (FAB M5B)" OR "acute monocytic leukemia, morphology (morphologic abnormality)" OR "leukemia, monocytic, malignant" OR "monocytic leukemia, acute"

Run this search on Europe PMC

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

"Acute monoblastic/monocytic leukemia" OR "AML M5" OR "Acute monoblastic or monocytic leukemia" OR "acute monoblastic leukaemia and acute monocytic leukaemia" OR "acute monocytic leukaemia (FAB M5B)" OR "acute monocytic leukemia" OR "acute monocytic leukemia (FAB M5B)" OR "acute monocytic leukemia, morphology (morphologic abnormality)" OR "leukemia, monocytic, malignant" OR "monocytic leukemia, acute"

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: 80 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"monocytic 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 2026-07-26T14:08:14.383Z