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ORPHA:93110

Posterior urethral valve

medium confidenceDisorder

Also known as: PUV

Publications

4,041

90.5th percentile

Trials

8

Interventional, condition-specific

Researchers

988

Distinct authors in sample

Gene link

—

Readiness

3/6

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.”

3/6 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 characterisedPresent

    27 HPO annotations (e.g. Fetal pyelectasis; Dilatation of the bladder; Lethargy) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

27

Associated phenotypes · MONDO:0019640

  • Fetal pyelectasis
  • Dilatation of the bladder
  • Lethargy
  • Urethral stenosis
  • Dysuria

Showing 5 of 27 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0019640

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

4,041 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,964 in the last 10 years · medium confidence · 90.5th 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 11 September 2026

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

medium confidence · 91.5th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (3)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Posterior urethral valve — check Associations / patient organisations on that page.

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