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ORPHA:322

Exstrophy-epispadias complex

medium confidenceDisorder

Also known as: BEEC · Bladder exstrophy-epispadias-cloacal extrophy complex · EEC

Publications

831

89.5th percentile

Trials

4

Interventional, condition-specific

Researchers

930

Distinct authors in sample

Gene link

PTCH1, SLC20A1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare non-syndromic uro-genital tract characterized by a spectrum of manifestations ranging in severity: epispadias (E) is the mildest form, classic exstrophy of the bladder (CEB) is the intermediate form and cloacal exstrophy (CE) the most severe form. Exstrophy-epispadias complex (EEC) involves the bladder, the genitalia, the lower abdominal wall, the pelvis and pelvic floor, and depending on the , the spine and the anus.

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)

OEIS complex · OEIS 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — PTCH1, SLC20A1

  2. LiteraturePresent

    831 matched papers (462 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

    4 matched on ClinicalTrials.gov

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 (PTCH1, SLC20A1).

GenCC classification: Strong.

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?

831

831 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.

831 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).

462 in the last 10 years · medium confidence · 89.5th percentile (publications denominator)

Phrase hits: 831 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

930

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
    Gearhart JP30 papers · 2026

    Jeffs Division of Pediatric Urology, The James Buchanan Brady Urological Institute, The Johns Hopkins University School of Medicine, Baltimore, MD, United States. Electronic address: Jgearha2@jhmi.edu.

    Papers in Europe PMC
  2. 02
    Haffar A17 papers · 2026

    James Buchanan Brady Urological Institute, Division of Pediatric Urology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.

    Papers in Europe PMC
  3. 03
    Crigger C10 papers · 2025

    James Buchanan Brady Urological Institute, Division of Pediatric Urology, Douglas A. Canning MD Exstrophy Database Center, Charlotte Bloomberg Children's Hospital, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.

    Papers in Europe PMC
  4. 04
    Crigger CB9 papers · 2026

    James Buchanan Brady Urological Institute, Jeffs Division of Pediatric Urology, Douglas A. Canning M.D. Exstrophy Database Center, Charlotte Bloomberg Children's Hospital, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  5. 05
    Harris TGW8 papers · 2024

    Department of Plastic and Reconstructive Surgery, Johns Hopkins University School of Medicine, Baltimore, MD.

    Papers in Europe PMC
  6. 06
    Shukla AR7 papers · 2026

    Department of General Surgery, Division of Urology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

    Papers in Europe PMC
  7. 07
    Weiss DA7 papers · 2026

    Department of General Surgery, Division of Urology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

    Papers in Europe PMC
  8. 08
    Di Carlo H6 papers · 2026

    Division of Pediatric Urology, James Buchanan Brady Urological Institute, Johns Hopkins Medical Institutions, Baltimore, Maryland.

    Papers in Europe PMC
  9. 09
    Heap D6 papers · 2026

    Robert D. Jeffs Division of Pediatric Urology, James Buchanan Brady Urological Institutions, Johns Hopkins Hospital, Johns Hopkins Medical Institutions, Charlotte Bloomberg Children's Hospital, Baltimore, MD.

    Papers in Europe PMC
  10. 10
    Maxon V6 papers · 2025

    Robert D. Jeffs Division of Pediatric Urology, James Buchanan Brady Urological Institutions, Johns Hopkins Hospital, Johns Hopkins Medical Institutions, Charlotte Bloomberg Children's Hospital, Baltimore, MD, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

medium confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same 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.

"Exstrophy-epispadias complex" OR "Bladder exstrophy-epispadias-cloacal extrophy complex" OR "OEIS complex" OR "OEIS syndrome"

Run this search on Europe PMC

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

"Exstrophy-epispadias complex" OR "Bladder exstrophy-epispadias-cloacal extrophy complex" OR "OEIS complex" OR "OEIS syndrome" OR "PTCH1" OR "SLC20A1"

Recall-expansion terms: PTCH1, SLC20A1

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

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: BEEC; EEC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • "OEIS complex" also appears on ORPHA:93929

Ingested 2026-07-26T13:24:20.439Z