ORPHA:2842
Penoscrotal transposition
Publications
324
77.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,003
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and may also be noticed (60% of cases).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017285
- MeSH:C536650
- UMLS:C1868854
- NCIT:C99010
Additional Mondo synonyms (3)
congenital penoscrotal transposition · penoscrotal transposition · penoscrotal transposition (disease)
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
324 matched papers (187 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
324
324 papers have ever been published on this condition (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.
324 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).
187 in the last 10 years · high confidence · 77.6th percentile (publications denominator)
Phrase hits: 324 · MeSH hits: 0
Who's working on it?
1,003
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.
- 01Chen Y6 papers · 2023
Department of General Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 02Wang Y6 papers · 2026
Department of Ultrasound, Affiliated Shengjing Hospital of China Medical University, 36 Sanhao Rd, Heping District, 110004 Shenyang, Liaoning, China. wangyy41@126.com
Papers in Europe PMC - 03Chen H5 papers · 2026
Department of Urology, The First Affiliated Hospital of Chongqing Medical University, No.1, Youyi Road, Yuzhong District, 400016, Chongqing, China.
Papers in Europe PMC - 04Wang J5 papers · 2023
Department of Child Health Care, Children's Hospital, Capital Institute of Pediatrics, Beijing, China.
Papers in Europe PMC - 05Zhang Z5 papers · 2026
Department of General Surgery, Children's Hospital, Capital Institute of Pediatrics, Beijing, China.
Papers in Europe PMC - 06
- 07Tang Y4 papers · 2024
Department of Pediatric Surgery of Children's Medical Center, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital & Affiliated Hospital of the University of Electronic Science and Technology of China, Chengdu, China.
Papers in Europe PMC - 08Wang S4 papers · 2026
Department Of Ultrasonography, Affiliated Hospital of Jining Medical University, Jining, 272000, China.
Papers in Europe PMC - 09Wang X4 papers · 2024
Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Papers in Europe PMC - 10Wu Y4 papers · 2026
Department of Pediatric Surgery, Affiliated Women and Children's Hospital, Xiamen University, Xiamen Fujian, 361003, P. R. 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.
"Penoscrotal transposition" OR "congenital penoscrotal transposition" OR "penoscrotal transposition (disease)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Penoscrotal transposition" OR "congenital penoscrotal transposition" OR "penoscrotal transposition (disease)"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-26T21:25:20.351Z