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ORPHA:2368

Gastroschisis

medium confidenceDisorder

Also known as: Laparoschisis

Publications

6,769

92.6th percentile

Trials

22

Interventional, condition-specific

Researchers

1,124

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare abdominal wall characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

gastroschisis · laparoschisis

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    6,769 matched papers (3,229 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Abnormal fetal gastrointestinal system morphology; Intestinal atresia; Gastroschisis) 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

    22 matched on ClinicalTrials.gov (4 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0009264

  • Abnormal fetal gastrointestinal system morphology
  • Intestinal atresia
  • Gastroschisis
  • Abnormality of the umbilical cord
  • Volvulus

Showing 5 of 12 — 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

1

Drugs / clinical candidates · MONDO_0009264

CTD chemicals (MyDisease.info)

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

  • Cocaine · marker/mechanism
  • Thalidomide · marker/mechanism

MyDisease.info · MONDO:0009264

Literature

Is anyone studying this?

6,769

6,769 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.

6,769 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).

3,229 in the last 10 years · medium confidence · 92.6th percentile (publications denominator)

Phrase hits: 6,769 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,124

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
    Araujo Júnior E7 papers · 2026

    Obstetrics, Universidade Federal de Sao Paulo Escola Paulista de Medicina, Sao Paulo, Brazil.

    Papers in Europe PMC
  2. 02
    Rolo LC6 papers · 2026

    Obstetrics, Universidade Federal de Sao Paulo Escola Paulista de Medicina, Sao Paulo, Brazil.

    Papers in Europe PMC
  3. 03
    Wagner AJ6 papers · 2026

    Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin.

    Papers in Europe PMC
  4. 04
    Anderson JE5 papers · 2026

    Department of Surgery, University of California Davis Medical Center, 2335 Stockton Blvd, Room 5107, Sacramento, CA, 95817, USA.

    Papers in Europe PMC
  5. 05
    Ade-Ajayi N4 papers · 2026

    Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London SE5 9RS, UK.

    Papers in Europe PMC
  6. 06
    Arai T4 papers · 2026

    My FetUZ Fetal Research Center, Department of Development and Regeneration, Cluster Woman and Child, Biomedical Sciences, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  7. 07
    Bautista GM4 papers · 2026

    Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, 95817, USA. Electronic address: gmbautista@health.ucdavis.edu.

    Papers in Europe PMC
  8. 08
    Calkins KL4 papers · 2026

    Department of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.

    Papers in Europe PMC
  9. 09
    De Coppi P4 papers · 2026

    My FetUZ Fetal Research Center, Department of Development and Regeneration, Cluster Woman and Child, Biomedical Sciences, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  10. 10
    Deprest J4 papers · 2026

    My FetUZ Fetal Research Center, Department of Development and Regeneration, Cluster Woman and Child, Biomedical Sciences, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

22

interventional trials for this specific condition

22 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 11 September 2026

22 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.2th percentile).

medium confidence · 95.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

14 observational studies match 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.

Recruiting or not-yet-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 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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).

Uncertain / not reviewed (15)

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 Gastroschisis — 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.

"Gastroschisis" OR "Laparoschisis"

Run this search on Europe PMC

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

"Gastroschisis" OR "Laparoschisis"

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: 22 interventional · 14 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T19:58:18.290Z