ORPHA:313846
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
17
32th percentile
Trials
0
Interventional, condition-specific
Researchers
180
Distinct authors in sample
Gene link
ATR
Moderate
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013806
- OMIM:614564
- UMLS:C3281203
Additional Mondo synonyms (1)
familial cutaneous telangiectasia and oropharyngeal predisposition cancer 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
Moderate — ATR
- LiteraturePresent
17 matched papers (14 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?
Probably — there is moderate evidence for ATR.
GenCC classification: Moderate.
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?
17
17 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
17 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).
14 in the last 10 years · high confidence · 32th percentile (publications denominator)
Phrase hits: 17 · MeSH hits: 0
Who's working on it?
180
Distinct author names in 17 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.
- 01Bannon SA2 papers · 2016
Department of Clinical Cancer Genetics, University of Texas MD Anderson Cancer Center, Houston, TX.
Papers in Europe PMC - 02DiNardo CD2 papers · 2016
Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX. Electronic address: cdinardo@mdanderson.org.
Papers in Europe PMC - 03Godley LA2 papers · 2026
Section of Hematology/Oncology, Department of Medicine, Comprehensive Cancer Research Center, University of Chicago, Chicago, IL.
Papers in Europe PMC - 04Gyawali CP2 papers · 2018
Division of Gastroenterology, Washington University School of Medicine, St Louis, MO.
Papers in Europe PMC - 05Akçin ÖÇ1 paper · 2026
Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Papers in Europe PMC - 06Al Hinai K1 paper · 2022
Oman Medical Specialty Board Council, Sultanate of Oman.
Papers in Europe PMC - 07Al-Jamal RT1 paper · 2025
Ocular Oncology Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 08Al-Shamsi HO1 paper · 2022
Medical Oncology Department, Alzahra Hospital Dubai, Dubai, United Arab Emirates.
Papers in Europe PMC - 09
- 10AlHarrasi A1 paper · 2022
Sultan Qaboos Comprehensive Cancer Care and Research Center, Sultanate of Oman.
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 cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome" OR "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome" OR "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" OR "ATR"
Recall-expansion terms: ATR
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 2026-07-27T12:59:43.020Z