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ORPHA:90322

Cockayne syndrome type 2

low confidenceSubtype of disorder

Also known as: Cockayne syndrome type II

Publications

2,463

Trials

0

Interventional, condition-specific

Researchers

1,247

Distinct authors in sample

Gene link

ERCC6

Definitive

Readiness

5/6

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 (3)

Cockayne syndrome B · Cockayne syndrome type B · Cockayne syndrome, type B

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — ERCC6

  2. LiteraturePresent

    2,463 matched papers (1,437 in last 10 years) Source

  3. Phenotype characterisedPresent

    117 HPO annotations (e.g. Intellectual disability; Long face; Mandibular prognathia) Source

  4. Animal modelPresent

    1 genotype model (Rattus norvegicus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 5 for broader category Cockayne syndrome

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 (ERCC6).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

117

Associated phenotypes · MONDO:0019570

  • Intellectual disability
  • Long face
  • Mandibular prognathia
  • Short chin
  • Macrotia

Showing 5 of 117 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

2,463

2,463 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.

2,463 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).

1,437 in the last 10 years · low confidence

Phrase hits: 510 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,247

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
    Wang D7 papers · 2025

    Division of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, CA, USA. dongwang@ucsd.edu.

    Papers in Europe PMC
  2. 02
    Wang Y6 papers · 2024

    School of Materials Science and Engineering, Tianjin University, Tianjin 300350, China.

    Papers in Europe PMC
  3. 03
    Fritsche E5 papers · 2024

    IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, 40225, Germany.

    Papers in Europe PMC
  4. 04
    Kapr J5 papers · 2024

    IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, 40225, Germany.

    Papers in Europe PMC
  5. 05
    Krutmann J5 papers · 2026

    IUF-Leibniz Research Institute for Environmental Medicine, Auf'm Hennekamp 50, D-40225 Duesseldorf, Germany.

    Papers in Europe PMC
  6. 06
    Laugel V5 papers · 2022

    Faculté de Médecine, Université de Strasbourg, Strasbourg, France5Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

    Papers in Europe PMC
  7. 07
    Rossi A5 papers · 2026

    IUF-Leibniz Research Institute for Environmental Medicine, Auf'm Hennekamp 50, D-40225 Duesseldorf, Germany.

    Papers in Europe PMC
  8. 08
    Xu J5 papers · 2024

    Division of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, CA, USA.

    Papers in Europe PMC
  9. 09
    Zhang Y5 papers · 2025

    Collaborative Innovation Center for Birth Defect Research and Transformation of Shandong Province, Jining Medical University, Jining, China.

    Papers in Europe PMC
  10. 10
    Chong J4 papers · 2024

    Division of Pharmaceutical Sciences, Skaggs School of Pharmacy & Pharmaceutical Sciences, University of California, San Diego, La Jolla, CA 92093.

    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). 5 trials are registered for Cockayne syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

low 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.

5 interventional trials matched Cockayne syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Cockayne syndrome

5

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 Cockayne syndrome type 2 — 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.

("Cockayne syndrome type 2" OR "Cockayne syndrome type II" OR "Cockayne syndrome B" OR "Cockayne syndrome type B" OR "Cockayne syndrome, type B") OR ("ERCC6" OR "ERCC6 syndrome" OR "ERCC6-related")

Run this search on Europe PMC

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

"Cockayne syndrome type 2" OR "Cockayne syndrome type II" OR "Cockayne syndrome B" OR "Cockayne syndrome type B" OR "Cockayne syndrome, type B"

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

Parent-category trials query:

"Cockayne syndrome"

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 (2463) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:44:30.211Z