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ORPHA:3088

Revesz syndrome

low confidenceDisorder

Also known as: Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome · Revesz-DeBuse syndrome

Publications

1,344

Trials

2

Interventional, condition-specific

Researchers

962

Distinct authors in sample

Gene link

TINF2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail , oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

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 (5)

DKCA5 · dyskeratosis congenita with bilateral exudative retinopathy · dyskeratosis congenita, autosomal dominant 5 · exudative retinopathy with bone marrow failure · retinopathy-anemia-central nervous system anomalies 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

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

  1. Gene identifiedPresent

    Definitive — TINF2

  2. LiteraturePresent

    1,344 matched papers (906 in last 10 years) Source

  3. Phenotype characterisedPresent

    44 HPO annotations (e.g. Bone marrow hypocellularity; Intracranial calcification; Neurodevelopmental delay) 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

    2 matched on ClinicalTrials.gov (1 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 (TINF2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

44

Associated phenotypes · MONDO:0009990

  • Bone marrow hypocellularity
  • Intracranial calcification
  • Neurodevelopmental delay
  • Seizure
  • Dermal atrophy

Showing 5 of 44 — 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 2026-07-27

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?

1,344

1,344 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,344 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).

906 in the last 10 years · low confidence

Phrase hits: 203 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

962

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
    Savage SA39 papers · 2026

    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, United States. savagesh@mail.nih.gov

    Papers in Europe PMC
  2. 02
    Alter BP18 papers · 2022

    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.

    Papers in Europe PMC
  3. 03
    Giri N17 papers · 2025

    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.

    Papers in Europe PMC
  4. 04
    Agarwal S8 papers · 2024

    Division of Hematology/Oncology, Children's Hospital Boston, MA 02115, USA.

    Papers in Europe PMC
  5. 05
    Bertuch AA8 papers · 2025

    Baylor College of Medicine, Houston, TX, USA.

    Papers in Europe PMC
  6. 06
    Niewisch MR7 papers · 2025

    Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  7. 07
    McReynolds LJ6 papers · 2025

    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.

    Papers in Europe PMC
  8. 08
    Beier F5 papers · 2024

    Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Germany.

    Papers in Europe PMC
  9. 09
    Khincha PP5 papers · 2024

    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD; Children's National Medical Center, Washington, DC.

    Papers in Europe PMC
  10. 10
    Calado RT4 papers · 2024

    Department of Internal Medicine, University of São Paulo at Ribeirão Preto School of Medicine, Ribeirão Preto, SP, Brazil

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 9 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 2026-07-27

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 Revesz 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.

("Revesz syndrome" OR "Dyskeratosis congenita with bilateral exudative retinopathy" OR "Retinopathy-anemia-central nervous system anomalies syndrome" OR "Revesz-DeBuse syndrome" OR "DKCA5" OR "dyskeratosis congenita, autosomal dominant 5" OR "exudative retinopathy with bone marrow failure") OR (MESH:"Revesz Debuse syndrome") OR ("TINF2" OR "TINF2 syndrome" OR "TINF2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Revesz Debuse syndrome

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

"Revesz syndrome" OR "Dyskeratosis congenita with bilateral exudative retinopathy" OR "Retinopathy-anemia-central nervous system anomalies syndrome" OR "Revesz-DeBuse syndrome" OR "DKCA5" OR "dyskeratosis congenita, autosomal dominant 5" OR "exudative retinopathy with bone marrow failure" OR "Revesz Debuse syndrome"

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

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1344) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T01:47:34.489Z