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ORPHA:1775

Dyskeratosis congenita

medium confidenceDisorder

Also known as: DC · DKC · Zinsser-Engman-Cole syndrome

Publications

4,827

96th percentile

Trials

12

Interventional, condition-specific

Researchers

1,204

Distinct authors in sample

Gene link

CTC1, NPM1, WRAP53

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare ectodermal syndrome that often presents with the classic triad of nail , skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

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 (1)

dyskeratosis congenita

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 — CTC1, NPM1, WRAP53

  2. LiteraturePresent

    4,827 matched papers (2,546 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

    12 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?

Yes — we know a specific gene responsible (CTC1, NPM1, WRAP53).

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?

4,827

4,827 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=5449) is 41.

4,827 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).

2,546 in the last 10 years · medium confidence · 96th percentile (publications denominator)

Phrase hits: 4,827 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,204

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 SA9 papers · 2026

    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  2. 02
    Giri N5 papers · 2026

    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  3. 03
    Borie R4 papers · 2026

    Université Paris Cité, Inserm, PHERE, Hôpital Bichat, AP-HP, Service de Pneumologie A, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France.

    Papers in Europe PMC
  4. 04
    Dokal I4 papers · 2026

    Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK.

    Papers in Europe PMC
  5. 05
    Li Y4 papers · 2026

    Department of Metabolism, Digestion and Reproduction, Imperial College London, Burlington Danes Building, Du Cane Road, London.

    Papers in Europe PMC
  6. 06
    McReynolds LJ4 papers · 2026

    Clinical Genetics Branch, Division of Cancer and Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  7. 07
    Niewisch MR4 papers · 2026

    Clinical Genetics Branch, Division of Cancer and Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  8. 08
    Tummala H4 papers · 2026

    Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK. h.tummala@qmul.ac.uk.

    Papers in Europe PMC
  9. 09
    Beier F3 papers · 2026

    Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Germany; Center for Integrated Oncology Aachen Bonn Cologne Duesseldorf (CIO ABCD). Electronic address: fbeier@ukaachen.de.

    Papers in Europe PMC
  10. 10
    Gutierrez-Rodrigues F3 papers · 2026

    Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

12

interventional trials for this specific condition

12 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 27 July 2026

12 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.5th percentile).

medium confidence · 92.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

6 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.

"Dyskeratosis congenita" OR "Zinsser-Engman-Cole syndrome"

Run this search on Europe PMC

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

"Dyskeratosis congenita" OR "Zinsser-Engman-Cole syndrome" OR "CTC1" OR "WRAP53"

Recall-expansion terms: CTC1, WRAP53

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: 12 interventional · 6 observational · 1 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

Synonyms dropped by stoplist: DC; DKC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:06:57.628Z