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ORPHA:404443

Tatton-Brown-Rahman syndrome

medium confidenceDisorder

Also known as: DNMT3A-related overgrowth syndrome · Tatton-Brown-Rahman overgrowth syndrome

Publications

277

73.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,698

Distinct authors in sample

Gene link

DNMT3A

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare multiple anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate , joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, , behavioral and psychiatric problems are common. Other clinical features may involve , cryptorchidism and cardiovascular diseases (including heart disease and aortic root dilatation).

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 (2)

Tatton Brown Rahman Syndrome · tall stature-intellectual disability-facial dysmorphism 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — DNMT3A

  2. LiteraturePresent

    277 matched papers (273 in last 10 years) Source

  3. Phenotype characterisedPresent

    77 HPO annotations (e.g. Obesity; Floppy infant; Thick eyebrow) Source

  4. Animal modelPresent

    5 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (DNMT3A).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

77

Associated phenotypes · MONDO:0014382

  • Obesity
  • Floppy infant
  • Thick eyebrow
  • Seizure
  • Severe intellectual disability

Showing 5 of 77 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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?

277

277 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.

277 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).

273 in the last 10 years · medium confidence · 73.5th percentile (publications denominator)

Phrase hits: 277 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,698

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
    Sadikovic B19 papers · 2026

    Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.

    Papers in Europe PMC
  2. 02
    Kerkhof J12 papers · 2026

    Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.

    Papers in Europe PMC
  3. 03
    McConkey H10 papers · 2025

    Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.

    Papers in Europe PMC
  4. 04
    Levy MA9 papers · 2026

    Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.

    Papers in Europe PMC
  5. 05
    Tatton-Brown K9 papers · 2025

    St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK; St George's, University of London, London SW17 0RE, UK; Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK.

    Papers in Europe PMC
  6. 06
    Haghshenas S7 papers · 2024

    Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.

    Papers in Europe PMC
  7. 07
    Goodell MA6 papers · 2026

    Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA. goodell@bcm.edu.

    Papers in Europe PMC
  8. 08
    Temple IK6 papers · 2025

    Faculty of Medicine, University of Southampton and the Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.

    Papers in Europe PMC
  9. 09
    Alders M5 papers · 2025

    Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. m.alders@amsterdamumc.nl.

    Papers in Europe PMC
  10. 10
    Baralle D5 papers · 2026

    Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, United Kingdom.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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.

medium 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Tatton-Brown-Rahman syndrome — 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.

"Tatton-Brown-Rahman syndrome" OR "DNMT3A-related overgrowth syndrome" OR "Tatton-Brown-Rahman overgrowth syndrome" OR "Tatton Brown Rahman Syndrome" OR "tall stature-intellectual disability-facial dysmorphism syndrome"

Run this search on Europe PMC

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

"Tatton-Brown-Rahman syndrome" OR "DNMT3A-related overgrowth syndrome" OR "Tatton-Brown-Rahman overgrowth syndrome" OR "Tatton Brown Rahman Syndrome" OR "tall stature-intellectual disability-facial dysmorphism syndrome"

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

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
  • Publication count (277) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T15:33:24.565Z