ORPHA:211
Familial cylindromatosis
Also known as: Turban tumor syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
588
78.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,073
Distinct authors in sample
Gene link
CYLD
Definitive
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007565
- MeSH:C536611
- OMIM:132700
- UMLS:C1851526
- NCIT:C43352
Additional Mondo synonyms (5)
Ancell-Spiegler syndrome · turban tumor · turban tumor syndrome · turban tumour · turban tumour 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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — CYLD
- LiteraturePresent
588 matched papers (203 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (CYLD).
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?
588
588 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.
588 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).
203 in the last 10 years · high confidence · 78.9th percentile (publications denominator)
Phrase hits: 588 · MeSH hits: 0
Who's working on it?
1,073
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.
- 01Rajan N8 papers · 2023
Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.
Papers in Europe PMC - 02Dubois A4 papers · 2021
Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.
Papers in Europe PMC - 03Farkas K4 papers · 2023
Department of Dermatology, Venereology and Dermatooncology, Faculty of Medicine, Semmelweis University, 1085 Budapest, Hungary.
Papers in Europe PMC - 04Frank J4 papers · 2018
Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany. jorge.frank@med.uni-goettingen.de.
Papers in Europe PMC - 05Nagy N4 papers · 2021
Department of Medical Genetics, University of Szeged, Szeged, Hungary.
Papers in Europe PMC - 06Kazakov DV3 papers · 2016
The Sikl Department of Pathology, Charles University Medical Faculty Hospital, Medical Faculty in Pilsen, Charles University in Prague, Pilsen, Czech Republic. kazakov@medima.cz.
Papers in Europe PMC - 07Széll M3 papers · 2016
Department of Medical Genetics, University of Szeged, Szeged, Hungary; Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary.
Papers in Europe PMC - 08van den Ouweland AM3 papers · 2016
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. a.vandenouweland@erasmusmc.nl
Papers in Europe PMC - 09Waisman A3 papers · 2025
Institute for Molecular Medicine, University Medical Center of the Johannes Gutenberg-University Mainz, Langenbeckstraße 1, 55131, Mainz, Germany. waisman@uni-mainz.de.
Papers in Europe PMC - 10Wang Y3 papers · 2022
Key Laboratory of Cell Proliferation and Differentiation of the Ministry of Education, Peking University Genome Editing Research Center, College of Life Sciences, Peking University, Beijing, China.
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Familial cylindromatosis" OR "Turban tumor syndrome" OR "Ancell-Spiegler syndrome" OR "turban tumor" OR "turban tumour" OR "turban tumour syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial cylindromatosis" OR "Turban tumor syndrome" OR "Ancell-Spiegler syndrome" OR "turban tumor" OR "turban tumour" OR "turban tumour syndrome" OR "CYLD"
Recall-expansion terms: CYLD
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-26T12:54:59.233Z