RARE DISEASERESEARCH ATLAS

ORPHA:488

Urachal cyst

low confidenceDisorder

Publications

1,293

Trials

0

Interventional, condition-specific

Researchers

965

Distinct authors in sample

Gene link

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

Urachal cyst is a urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.

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 (2)

urachal cyst · urachal cyst (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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,293 matched papers (519 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 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?

1,293

1,293 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.

1,293 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).

519 in the last 10 years · low confidence

Phrase hits: 1,293 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

965

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.

  1. 01
    Wang Y5 papers · 2024

    Department of Rehabilitation, The Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.

    Papers in Europe PMC
  2. 02
    Ellsworth P3 papers · 2024

    University of Central Florida College of Medicine, Orlando, FL, USA; Department of Surgery, Division of Urology, Nemours Children's Health System/Nemours Children's Hospital, Orlando, FL, USA.

    Papers in Europe PMC
  3. 03
    Fang Y3 papers · 2025

    Deparement of anaesthesiology, The Fourth Affilated Hospital, School of Medicine, Zhejiang University, Yiwu, 32200, Zhejiang, China.

    Papers in Europe PMC
  4. 04
    Li X3 papers · 2025

    Department of Rehabilitation, Gansu Traditional Chinese Medicine Hospital, Lanzhou, China.

    Papers in Europe PMC
  5. 05
    Seth A3 papers · 2024

    University of Central Florida College of Medicine, Orlando, FL, USA; Department of Surgery, Division of Urology, Nemours Children's Health System/Nemours Children's Hospital, Orlando, FL, USA. Electronic address: abhishek.seth@nemours.org.

    Papers in Europe PMC
  6. 06
    Armon Y2 papers · 2022

    Department of Pediatric Surgery, Shaare Zedek Medical Center, Jerusalem, Israel.

    Papers in Europe PMC
  7. 07
    Baroiu L2 papers · 2021

    Clinical Medical Department, Faculty of Medicine and Pharmacy, "Dunărea de Jos" University, 800216 Galați, Romania.

    Papers in Europe PMC
  8. 08
    Cao X2 papers · 2025

    Department of Urology, Children's Hospital of Soochow University, Suzhou, China.

    Papers in Europe PMC
  9. 09
    Cao Y2 papers · 2025

    Department of Pediatric Urology, Anhui Provincial Children's Hospital Affiliated to Anhui Medical University, 39 Wangjiang Road, Hefei, 230000, Anhui, China.

    Papers in Europe PMC
  10. 10
    Chen J2 papers · 2023

    Department of Pediatric Surgery, Qilu Hospital of Shandong University, Jinan, 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.

low 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 2026-07-26

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.

"Urachal cyst" OR "urachal cyst (disease)"

Run this search on Europe PMC

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

"Urachal cyst" OR "urachal cyst (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
  • Publication count (1293) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:01:14.630Z