ORPHA:90322
Cockayne syndrome type 2
Also known as: Cockayne syndrome type II
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
510
83.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,247
Distinct authors in sample
Gene link
ERCC6
Definitive
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019570
- OMIM:133540
- UMLS:C0751038
- NCIT:C135726
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — ERCC6
- LiteraturePresent
510 matched papers (271 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
510
510 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.
510 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).
271 in the last 10 years · high confidence · 83.2th percentile (publications denominator)
Phrase hits: 510 · MeSH hits: 0
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.
- 01Wang 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 - 02Wang Y6 papers · 2024
School of Materials Science and Engineering, Tianjin University, Tianjin 300350, China.
Papers in Europe PMC - 03Fritsche E5 papers · 2024
IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, 40225, Germany.
Papers in Europe PMC - 04Kapr J5 papers · 2024
IUF - Leibniz Research Institute for Environmental Medicine, Düsseldorf, 40225, Germany.
Papers in Europe PMC - 05Krutmann J5 papers · 2026
IUF-Leibniz Research Institute for Environmental Medicine, Auf'm Hennekamp 50, D-40225 Duesseldorf, Germany.
Papers in Europe PMC - 06Laugel 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 - 07Rossi A5 papers · 2026
IUF-Leibniz Research Institute for Environmental Medicine, Auf'm Hennekamp 50, D-40225 Duesseldorf, Germany.
Papers in Europe PMC - 08Xu 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 - 09Zhang Y5 papers · 2025
Collaborative Innovation Center for Birth Defect Research and Transformation of Shandong Province, Jining Medical University, Jining, China.
Papers in Europe PMC - 10Chong 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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
- NCT06938542·ENROLLING BY INVITATION·Palliative Care Needs of Children With Rare Diseases and Their Families
Conditions: Trisomy 13 Syndrome · Arthrogryposis Congenita Multiplex With Intestinal Atresia · Asparagine Synthetase Deficiency · CHARGE Syndrome·Matched via name phrase
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 2026-07-26This 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"
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" OR "ERCC6"
Recall-expansion terms: ERCC6
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: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T03:44:30.211Z