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ORPHA:3226

Deafness-lymphedema-leukemia syndrome

high confidenceDisorder

Also known as: Emberger syndrome · Hearing loss-lymphedema-leukemia syndrome

Publications

284

78.7th percentile

Trials

8

Interventional, condition-specific

Researchers

1,222

Distinct authors in sample

Gene link

GATA2

Definitive

Readiness

3/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

deafness-lymphedema-leukemia 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — GATA2

  2. LiteraturePresent

    284 matched papers (201 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    8 matched on ClinicalTrials.gov (3 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 (GATA2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

284

284 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=5449) is 41.

284 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

201 in the last 10 years · high confidence · 78.7th percentile (publications denominator)

Phrase hits: 284 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,222

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
    Holland SM17 papers · 2024

    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  2. 02
    Hsu AP13 papers · 2022

    Laboratorie of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases.

    Papers in Europe PMC
  3. 03
    Mansour S11 papers · 2024

    Lymphovascular Research Unit, Molecular and Clinical Sciences Research Institute, University of London St George's, London, UK smansour@sgul.ac.uk.

    Papers in Europe PMC
  4. 04
    Calvo KR9 papers · 2023

    Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda.

    Papers in Europe PMC
  5. 05
    Hickstein DD9 papers · 2024

    Experimental Transplantation and Immunology, National Cancer Institute, National Institutes of Health, Bethesda, MD;

    Papers in Europe PMC
  6. 06
    Ostergaard P8 papers · 2024

    Lymphovascular Research Unit, Molecular and Clinical Sciences Institute, St George's University of London, SW170RE, London, UK.

    Papers in Europe PMC
  7. 07
    Zerbe CS7 papers · 2024

    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  8. 08
    Abraham RS6 papers · 2025

    Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

    Papers in Europe PMC
  9. 09
    Hahn CN6 papers · 2024

    Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.

    Papers in Europe PMC
  10. 10
    McReynolds LJ6 papers · 2024

    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?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

high confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

4 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Deafness-lymphedema-leukemia syndrome" OR "Emberger syndrome" OR "Hearing loss-lymphedema-leukemia syndrome"

Run this search on Europe PMC

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

"Deafness-lymphedema-leukemia syndrome" OR "Emberger syndrome" OR "Hearing loss-lymphedema-leukemia syndrome" OR "GATA2"

Recall-expansion terms: GATA2

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 8 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-26T22:33:29.420Z