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ORPHA:2970

Prune belly syndrome

low confidenceDisorder

Also known as: Abdominal muscle deficiency syndrome · Eagle-Barret syndrome · Obrinsky syndrome · Triad syndrome

Publications

4,355

Trials

1

Interventional, condition-specific

Researchers

1,071

Distinct authors in sample

Gene link

CHRM3

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

Obrisnksy syndrome · abdominal muscle deficiency syndrome · eagle-Barret syndrome · prune belly syndrome · syndrome of agenesis of abdominal muscles · triad 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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — CHRM3

  2. LiteraturePresent

    4,355 matched papers (2,637 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Hydroureter; Hydronephrosis; Oligohydramnios) 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

    1 matched on ClinicalTrials.gov (1 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?

Yes — we know a specific gene responsible (CHRM3).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

49

Associated phenotypes · MONDO:0007032

  • Hydroureter
  • Hydronephrosis
  • Oligohydramnios
  • Anal atresia
  • Congenital posterior urethral valve

Showing 5 of 49 — 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 2026-07-27

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

2 associated chemicals · 22 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • dicyclomine, doxylamine, pyridoxine drug combination · marker/mechanism
  • trimethobenzamide · marker/mechanism

Pathways: Calcium signaling pathway; Neuroactive ligand-receptor interaction; Cholinergic synapse; Taste transduction; Regulation of actin cytoskeleton; Insulin secretion; Salivary secretion; Gastric acid secretion

MyDisease.info · MONDO:0007032

Literature

Is anyone studying this?

4,355

4,355 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.

4,355 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).

2,637 in the last 10 years · low confidence

Phrase hits: 2,157 · MeSH hits: 76

Open Europe PMC search

Who's working on it?

1,071

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
    Dénes FT6 papers · 2026

    Uropediatric Unit and Division of Urology, Faculdade de Medicina, Hospital das Clínicas, Universidade de São Paulo, São Paulo, Brazil.

    Papers in Europe PMC
  2. 02
    Favorito LA6 papers · 2025

    Urogenital Research Unit, State University of Rio de Janeiro, Brazil. Electronic address: lufavorito@Yahoo.com.br.

    Papers in Europe PMC
  3. 03
    Lopes RI6 papers · 2026

    Uropediatric Unit and Division of Urology, Faculdade de Medicina, Hospital das Clínicas, Universidade de São Paulo, São Paulo, Brazil. Electronic address: robertoiglesias@terra.com.br.

    Papers in Europe PMC
  4. 04
    Sampaio FJB6 papers · 2025

    Urogenital Research Unit, State University of Rio de Janeiro, Brazil.

    Papers in Europe PMC
  5. 05
    Baker LA5 papers · 2025

    University of Texas Southwestern Medical Center at Dallas Children's Health, Dallas, USA.

    Papers in Europe PMC
  6. 06
    Berg C4 papers · 2025

    Division of Prenatal Medicine, Fetal Surgery and Gynecological Ultrasound, Department of Obstetrics and Gynecology, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  7. 07
    Chua M4 papers · 2024

    Global Surgery, Department of Surgery, University of Toronto, Toronto, ON, Canada.

    Papers in Europe PMC
  8. 08
    Rickard M4 papers · 2024

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

    Papers in Europe PMC
  9. 09
    Ali AO3 papers · 2025

    Zewditu Memorial Hospital, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  10. 10
    Gottschalk I3 papers · 2024

    Division of Prenatal Medicine, Fetal Surgery and Gynecological Ultrasound, Department of Obstetrics and Gynecology, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany. ingo.gottschalk@uk-koeln.de.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 9 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as 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 11 · after dedupe 11 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 11 · fetched 2026-07-27

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).

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 Prune belly syndrome — 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.

("Prune belly syndrome" OR "Abdominal muscle deficiency syndrome" OR "Eagle-Barret syndrome" OR "Obrinsky syndrome" OR "Triad syndrome" OR "Obrisnksy syndrome" OR "syndrome of agenesis of abdominal muscles" OR "syndrome of the agenesis of the abdominal muscles") OR (MESH:"Prune Belly Syndrome") OR ("CHRM3" OR "CHRM3 syndrome" OR "CHRM3-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Prune Belly Syndrome

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

"Prune belly syndrome" OR "Abdominal muscle deficiency syndrome" OR "Eagle-Barret syndrome" OR "Obrinsky syndrome" OR "Triad syndrome" OR "Obrisnksy syndrome" OR "syndrome of agenesis of abdominal muscles" OR "syndrome of the agenesis of the abdominal muscles"

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: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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
  • Publication count (4355) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T02:29:14.251Z