ORPHA:688642
Turnpenny-Fry syndrome
Also known as: PCGF2-related disorder · TPFS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
11
28.7th percentile
Trials
0
Interventional, condition-specific
Researchers
59
Distinct authors in sample
Gene link
PCGF2
Strong
Readiness
2/6
Stages with a signal
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:0032707
- OMIM:618371
- UMLS:C5193060
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
Strong — PCGF2
- LiteraturePresent
11 matched papers (11 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 (PCGF2).
GenCC classification: Strong.
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?
11
11 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.
11 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).
11 in the last 10 years · medium confidence · 28.7th percentile (publications denominator)
Phrase hits: 11 · MeSH hits: 0
Who's working on it?
59
Distinct author names in 11 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.
- 01Adanur Saglam K1 paper · 2022
Department of Medical Genetics, Faculty of Medicine, Ataturk University, Erzurum, Turkey.
Papers in Europe PMC - 02Almeida M1 paper · 2024
Pediatric Oncology, Instituto Português de Oncologia do Porto Francisco Gentil, Porto, PRT.
Papers in Europe PMC - 03Arboleda VA1 paper · 2024
Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.
Papers in Europe PMC - 04Belizna C1 paper · 2024
UMR CNRS 6015, INSERM U1083, University of Angers, 49100 Angers, France.
Papers in Europe PMC - 05Bellen HJ1 paper · 2021
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
Papers in Europe PMC - 06Bhavana VH1 paper · 2021
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
Papers in Europe PMC - 07Bukowska-Olech E1 paper · 2024
Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland. ewe.olech@gmail.com.
Papers in Europe PMC - 08Capela AM1 paper · 2024
Medical Genetics, Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar Universitário de Santo António, Porto, PRT.
Papers in Europe PMC - 09Chiș A1 paper · 2024
Department of Molecular Sciences, "Iuliu Hațieganu" University of Medicine and Pharmacy Cluj-Napoca, 400349 Cluj-Napoca, Romania.
Papers in Europe PMC - 10Damian LO1 paper · 2024
Association for Innovation in Rare Inflammatory, Metabolic, Genetic Diseases INNOROG, 30E, Făgetului St., 400497 Cluj-Napoca, Romania.
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.
medium 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.
"Turnpenny-Fry syndrome" OR "PCGF2-related disorder"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Turnpenny-Fry syndrome" OR "PCGF2-related disorder" OR "PCGF2"
Recall-expansion terms: PCGF2
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
Synonyms dropped by stoplist: TPFS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T20:31:37.739Z