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ORPHA:93110

Posterior urethral valve

medium confidenceDisorder

Also known as: PUV

Publications

4,041

95.5th percentile

Trials

8

Interventional, condition-specific

Researchers

988

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, , fetal lower urinary tract obstruction (LUTO) anomaly characterized by an abnormal obstructing membrane or leaflets that are located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

Posterior Urethral Valves · congenital posterior urethral valves

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4,041 matched papers (1,964 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    8 matched on ClinicalTrials.gov (4 recruiting in sample)

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?

4,041

4,041 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.

4,041 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).

1,964 in the last 10 years · medium confidence · 95.5th percentile (publications denominator)

Phrase hits: 4,041 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

988

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Rickard M18 papers · 2026

    Division of Urology, The Hospital for Sick Children, 555 University Ave., Toronto, ON, Canada.

    Papers in Europe PMC
  2. 02
    Lorenzo AJ16 papers · 2026

    Division of Urology, The Hospital for Sick Children, 555 University Ave., Toronto, ON, Canada. Electronic address: armando.lorenzo@sickkids.ca.

    Papers in Europe PMC
  3. 03
    Khondker A13 papers · 2026

    Division of Urology, The Hospital for Sick Children, 555 University Ave., Toronto, ON, Canada; Temerty Faculty of Medicine, University of Toronto, ON, Canada.

    Papers in Europe PMC
  4. 04
    Kim JK13 papers · 2026

    Division of Urology, The Hospital for Sick Children, 555 University Ave., Toronto, ON, Canada; Division of Urology, Department of Surgery, University of Toronto, ON, Canada.

    Papers in Europe PMC
  5. 05
    Dos Santos J9 papers · 2026

    Division of Urology, The Hospital for Sick Children, Toronto, Ontario, Canada.

    Papers in Europe PMC
  6. 06
    Richter J8 papers · 2026

    Division of Urology, Department of Surgery, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

    Papers in Europe PMC
  7. 07
    Chua M7 papers · 2026

    Division of Urology, Department of Surgery, University of Toronto, Toronto, ON, Canada; Division of Urology, Department of Surgery, The Hospital for Sick Children, Toronto, ON, Canada.

    Papers in Europe PMC
  8. 08
    Santos JD7 papers · 2026

    Division of Urology, The Hospital for Sick Children, 555 University Ave., Toronto, ON, Canada.

    Papers in Europe PMC
  9. 09
    Garriboli M6 papers · 2026

    Department of Paediatric Urology, Evelina London Children's Hospital, Westminster Bridge Road, London, UK.

    Papers in Europe PMC
  10. 10
    Peycelon M6 papers · 2026

    Department of Pediatric Surgery, Hôpital Robert Debré, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 27 July 2026

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

medium confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

8 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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.

"Posterior urethral valve" OR "Posterior Urethral Valves" OR "congenital posterior urethral valves"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Posterior urethral valve" OR "Posterior Urethral Valves" OR "congenital posterior urethral valves"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 8 interventional · 3 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

Synonyms dropped by stoplist: PUV

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 2026-07-27T04:06:29.984Z