ORPHA:431341
Patent urachus
Publications
678
75.2th percentile
Trials
0
Interventional, condition-specific
Researchers
942
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Patent urachus is a type of urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.
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:0018551
- UMLS:C0266357
- NCIT:C99005
Additional Mondo synonyms (2)
patent urachus · patent urachus (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.”
2/6 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
678 matched papers (294 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Patent urachus; Urachal cyst; Cystocele) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
10
Associated phenotypes · MONDO:0018551
- Patent urachus
- Urachal cyst
- Cystocele
- Recurrent gram-negative bacterial infections
- Congenital posterior urethral valve
Showing 5 of 10 — 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
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
678
678 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.
678 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).
294 in the last 10 years · high confidence · 75.2th percentile (publications denominator)
Phrase hits: 678 · MeSH hits: 0
Who's working on it?
942
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.
- 01Li Z3 papers · 2026
Department of Ultrasound, Shanghai General Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.. lzj_197506@126.com.
Papers in Europe PMC - 02Tang Y3 papers · 2026
Department of Ultrasound, Children's Hospital of Chongqing Medical University National Clinical Research Center for Children and Adolescents' Health and Diseases Ministry of Education Key Laboratory of Child Development and Disorders International Science and Technology Cooperation Base of Child Development and Critical Disorders Chongqing Municipal Health Commission Key Laboratory of Children's Vital Organ Development and Diseases Chongqing China.
Papers in Europe PMC - 03Armon Y2 papers · 2022
Department of Pediatric Surgery, Shaare Zedek Medical Center, Jerusalem, Israel.
Papers in Europe PMC - 04Bernick A2 papers · 2025
Klinik für Geburtshilfe, Gynäkologie und Andrologie der Groß- und Kleintiere, Klinikum Veterinärmedizin, Justus-Liebig-Universität Gießen.
Papers in Europe PMC - 05Castagnetti C2 papers · 2024
Department of Veterinary Medical Sciences, Bologna Università, Via Tolara di Sopra 50, Ozzano dell'Emilia 40064, Italy; Health Sciences and Technologies Interdepartmental Center for Industrial Research (CIRI-SDV), Bologna University, 40100, Italy.
Papers in Europe PMC - 06Chertin B2 papers · 2022
Department of Pediatric Urology, Shaare Zedek Medical Center, P.o.B 3235, 91031, Jerusalem, Israel.
Papers in Europe PMC - 07Chiang KL2 papers · 2022
Department of Pediatrics, Kuang Tien General Hospital, Taichung, Taiwan; Department of Nutrition, Hungkuang University, Taichung, Taiwan. Electronic address: lambier.tw@yahoo.com.tw.
Papers in Europe PMC - 08Chou YK2 papers · 2022
Department of Pediatrics, Kuang Tien General Hospital, Taichung, Taiwan.
Papers in Europe PMC - 09Cullen JM2 papers · 2025
College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA.
Papers in Europe PMC - 10Di Meglio L2 papers · 2021
Diagnostica Ecografica e Prenatale di A. Di Meglio, Naples, Italy.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Patent urachus — check Associations / patient organisations on that page.
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.
"Patent urachus" OR "patent urachus (disease)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Patent urachus" OR "patent urachus (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 2026-07-27T15:59:37.045Z