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ORPHA:1775

Dyskeratosis congenita

medium confidenceDisorder

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

Publications

6,445

93.5th percentile

Trials

12

Interventional, condition-specific

Researchers

1,204

Distinct authors in sample

Gene link

CTC1, NPM1, WRAP53

Definitive

Readiness

6/6

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.”

6/6 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

    6,445 matched papers (3,827 in last 10 years) Source

  3. Phenotype characterisedPresent

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

  4. Animal modelPresent

    11 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. recombinant human dyskerin Source

  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)

418

Associated phenotypes · MONDO:0015780

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

Showing 5 of 418 — open Monarch for the full list.

Animal models (Monarch / Alliance)

11

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA recombinant human dyskerinTreatment of dyskeratosis congenita · 08/11/2012 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

10

Drugs / clinical candidates · MONDO_0015780

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

6,445

6,445 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,445 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).

3,827 in the last 10 years · medium confidence · 93.5th 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 11 September 2026 · last trial check 28 July 2026

12 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.2th percentile).

medium confidence · 93.2th 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

5 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (1)

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 Dyskeratosis congenita — 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.

("Dyskeratosis congenita" OR "Zinsser-Engman-Cole syndrome") OR ("CTC1" OR "CTC1 syndrome" OR "CTC1-related" OR "WRAP53" OR "WRAP53 syndrome" OR "WRAP53-related")

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"

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 · 5 observational · 1 expanded access. Only interventional studies enter the trial headline.

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

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