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ORPHA:98831

Acute myeloid leukemia with 11q23 abnormalities

high confidenceDisorder

Also known as: AML with 11q23 abnormalities

Publications

51

34.8th percentile

Trials

165

Interventional, condition-specific

Researchers

384

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.

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 (11)

AML with t(9;11)(p22;q23); MLLT3-MLL · acute myeloid Leukaemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A · acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A · acute myeloid leukaemia with 11q23 (MLL) abnormalities · acute myeloid leukaemia with MLL abnormalities · acute myeloid leukaemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A · acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL · acute myeloid leukemia with 11q23 (MLL) abnormalities · acute myeloid leukemia with MLL abnormalities · acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A · acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL

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.”

2/6 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

    51 matched papers (18 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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

    165 matched on ClinicalTrials.gov

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

51

51 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.

51 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).

18 in the last 10 years · high confidence · 34.8th percentile (publications denominator)

Phrase hits: 51 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

384

Distinct author names in 51 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
    Li Y3 papers · 2017

    Department of Leukemia, Institute of Hematology, Hospital of Blood Diseases, Chinese Academy of Medical Sciences, Tianjin, China.

    Papers in Europe PMC
  2. 02
    Wang J3 papers · 2025

    State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.

    Papers in Europe PMC
  3. 03
    Adachi S2 papers · 2013
    Papers in Europe PMC
  4. 04
    Chen Y2 papers · 2024

    Department of Hematology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou Key Laboratory of Hematology, Wenzhou, People's Republic of China.

    Papers in Europe PMC
  5. 05
    Chen Z2 papers · 2015

    Department of Clinical Laboratory, Renmin Hospital of Wuhan University, Wuhan, Hubei, China.

    Papers in Europe PMC
  6. 06
    Fu H2 papers · 2024

    Fujian Institute of Hematology, Fujian Medical Center of Hematology, Clinical Research Center for Hematological Malignancies of Fujian Province, Fuzhou, Fujian 350001, P.R. China.

    Papers in Europe PMC
  7. 07
    Horibe K2 papers · 2013
    Papers in Europe PMC
  8. 08
    Hossain MJ2 papers · 2015

    Biostatistics Core, Nemours Biomedical Research, A I duPont Hospital for Children, Wilmington, DE 19803, United States; Department of Applied Economics and Statistics, University of Delaware, Newark, DE 19716, United States. Electronic address: jhossain@nemours.org.

    Papers in Europe PMC
  9. 09
    Jabbour E2 papers · 2021

    Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, Texas.

    Papers in Europe PMC
  10. 10
    Liu L2 papers · 2024

    Bone Marrow Transplantation Center, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, People's Republic of China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

165

interventional trials for this specific condition

165 interventional trials matched this specific condition name; none in our sample are currently recruiting. 2,299 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

165 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.1th percentile).

high confidence · 99.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: acute myeloid leukemia

2,299

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

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 myeloid leukemia with 11q23 abnormalities — 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 myeloid leukemia with 11q23 abnormalities" OR "AML with 11q23 abnormalities" OR "AML with t(9;11)(p22;q23); MLLT3-MLL" OR "acute myeloid Leukaemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" OR "acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" OR "acute myeloid leukaemia with 11q23 (MLL) abnormalities" OR "acute myeloid leukaemia with MLL abnormalities" OR "acute myeloid leukaemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" OR "acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL" OR "acute myeloid leukemia with 11q23 (MLL) abnormalities" OR "acute myeloid leukemia with MLL abnormalities" OR "acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" OR "acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL"

Run this search on Europe PMC

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

"Acute myeloid leukemia with 11q23 abnormalities" OR "AML with 11q23 abnormalities" OR "AML with t(9;11)(p22;q23); MLLT3-MLL" OR "acute myeloid Leukaemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" OR "acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" OR "acute myeloid leukaemia with 11q23 (MLL) abnormalities" OR "acute myeloid leukaemia with MLL abnormalities" OR "acute myeloid leukaemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" OR "acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL" OR "acute myeloid leukemia with 11q23 (MLL) abnormalities" OR "acute myeloid leukemia with MLL abnormalities" OR "acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" OR "acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL"

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: 165 interventional · 1 observational · 1 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 2026-07-27T05:30:14.945Z