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ORPHA:322

Exstrophy-epispadias complex

low confidenceDisorder

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

Publications

38,039

Trials

1

Interventional, condition-specific

Researchers

930

Distinct authors in sample

Gene link

PTCH1, SLC20A1

Strong

Readiness

5/6

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.”

5/6 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

    38,039 matched papers (26,083 in last 10 years) Source

  3. Phenotype characterisedPresent

    124 HPO annotations (e.g. Tethered cord; Absent scrotum; Ambiguous genitalia, female) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  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

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)

124

Associated phenotypes · MONDO:0017919

  • Tethered cord
  • Absent scrotum
  • Ambiguous genitalia, female
  • Bladder exstrophy
  • 11 pairs of ribs

Showing 5 of 124 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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)

1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Diazepam · marker/mechanism

MyDisease.info · MONDO:0017919

Literature

Is anyone studying this?

38,039

38,039 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

38,039 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).

26,083 in the last 10 years · low confidence

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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 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.

No currently recruiting studies in the matched set. Open the same 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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 Exstrophy-epispadias complex — 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.

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

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"

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 · 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

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
  • Publication count (38039) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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