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Atlas / Disease / Gastroschisis

Gastroschisis

disease
On this page

Also known as congenital fissure of the abdominal cavityeventrationlaparoschisis

Summary

Gastroschisis (MONDO:0009264) is a disease and 39 clinical trials. Top therapeutic interventions include fish oil triglycerides, glycerin, and metoclopramide. A subtype of abdominal wall malformation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
  • Phenotypes (HPO): 13
  • Clinical trials: 39

Clinical features

Epidemiology

Prevalence records

20 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Point prevalence1-5 / 10 000EuropeValidated
Prevalence at birth1-5 / 10 00016.9EuropeValidated
Prevalence at birth1-5 / 10 00029.4AustriaValidated
Prevalence at birth1-5 / 10 00014.6BelgiumValidated
Prevalence at birth1-5 / 10 00022.7CroatiaValidated
Prevalence at birth1-5 / 10 00021.3DenmarkValidated
Prevalence at birth1-5 / 10 00017.7FranceValidated
Prevalence at birth1-5 / 10 00041.6GermanyValidated
Prevalence at birth1-9 / 100 0006.2HungaryValidated
Prevalence at birth1-5 / 10 00018.1IrelandValidated
Prevalence at birth1-9 / 100 0009.9ItalyValidated
Prevalence at birth1-5 / 10 00025.8MaltaValidated
Prevalence at birth1-5 / 10 00017.5NetherlandsValidated
Prevalence at birth1-5 / 10 00036NorwayValidated
Prevalence at birth1-5 / 10 00011.6PolandValidated
Prevalence at birth1-5 / 10 00011PortugalValidated
Prevalence at birth1-9 / 100 0005.6SpainValidated
Prevalence at birth1-5 / 10 00012.3SwitzerlandValidated
Prevalence at birth1-5 / 10 00036.3United KingdomValidated
Prevalence at birth1-9 / 100 0009.5UkraineValidated

Signs & symptoms

Clinical features (HPO)

13 HPO clinical features (Orphanet curated; top 13 by frequency):

HPO IDTermFrequency
HP:0001543GastroschisisVery frequent (80-99%)
HP:0001511Intrauterine growth retardationFrequent (30-79%)
HP:0010881Abnormality of the umbilical cordFrequent (30-79%)
HP:0011432Elevated maternal circulating alpha-fetoprotein concentrationFrequent (30-79%)
HP:0034207Abnormal fetal gastrointestinal system morphologyFrequent (30-79%)
HP:0001561PolyhydramniosOccasional (5-29%)
HP:0001562OligohydramniosOccasional (5-29%)
HP:0001622Premature birthOccasional (5-29%)
HP:0002566Intestinal malrotationOccasional (5-29%)
HP:0002580VolvulusOccasional (5-29%)
HP:0011100Intestinal atresiaOccasional (5-29%)
HP:0031368Intestinal perforationOccasional (5-29%)
HP:0100016Abnormality of mesentery morphologyOccasional (5-29%)

Identifiers

Disease identifiers

FieldValue
Canonical namegastroschisis
Mondo IDMONDO:0009264
EFOEFO:1000949
MeSHD020139
OMIM230750
Orphanet2368
DOIDDOID:11044
ICD-10-CMQ79.3
ICD-11551758329
NCITC84725
SNOMED CT72951007
UMLSC0265706
MedGen82721
GARD0008661
MedDRA10018046
NORD1176
Is cancer (heuristic)no

Also known as: congenital fissure of the abdominal cavity · eventration · gastroschisis · laparoschisis

Disease family

This is a subtype of abdominal wall malformation. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › developmental defect during embryogenesis › abdominal wall malformation › gastroschisis

Related subtypes (3): omphalomesenteric cyst, omphalocele, body-stalk anomaly

Subtypes (1): paraomphalocele

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

1 drug in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

DrugHighest phase
MetoclopramidePhase 3

Clinical trials & evidence

Clinical trials

Clinical trials: 39.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified32
PHASE42
PHASE32
PHASE2/PHASE31
PHASE21
PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT03334578PHASE4WITHDRAWNThe Use of Gastrografin to Help Alleviate Bowel Obstruction in Gastroschisis Patients.
NCT03355326PHASE4TERMINATEDEvaluation of Glycerin Suppositories to Improve Bowel Function in Gastroschisis
NCT00127946PHASE3UNKNOWNTrial of AMNIOECHANGE in Gastroschisis Affected Foetuses
NCT02098915PHASE3TERMINATEDMetoclopramide Pilot Trial
NCT02370251PHASE2/PHASE3COMPLETEDCompassionate Use of Omegaven in Children
NCT00539292PHASE2TERMINATEDEvaluating the Use of a Silastic Spring-Loaded Silo for Infants With Gastroschisis
NCT03205553PHASE1TERMINATEDDirect Peritoneal Resuscitation in Gastroschisis
NCT02774746Not specifiedRECRUITINGGastroschisis Outcomes of Delivery (GOOD) Study
NCT03393832Not specifiedACTIVE_NOT_RECRUITINGOral Care in Infants With Gastroschisis
NCT03775954Not specifiedRECRUITINGFetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise
NCT05704257Not specifiedRECRUITINGFetal Repair of Complex Gastroschisis: A Safety and Feasibility Trial
NCT06072976Not specifiedRECRUITINGThe Influence of Feeding Source on the Gut Microbiome and Time to Full Feeds in Neonates With Congenital Gastrointestinal Pathologies
NCT06731855Not specifiedRECRUITINGAn Exploratory Physiological Study of Post-operative Recovery in Surgical Neonates and Dimethylarginine:Arginine Levels
NCT06878950Not specifiedRECRUITINGEarly Feeds in Gastroschisis
NCT07030309Not specifiedACTIVE_NOT_RECRUITINGMEGA STUDY - Multicenter Evaluation of Gastroschisis Anomaly Study
NCT00404690Not specifiedTERMINATEDBedside Silo Versus Operative Closure for Gastroschisis
NCT01062815Not specifiedTERMINATEDPrevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants
NCT01094587Not specifiedTERMINATEDSutureless vs Sutured Gastroschisis Closure
NCT01316510Not specifiedCOMPLETEDProbiotics in Infants With Gastroschisis
NCT01469208Not specifiedUNKNOWNMusic Therapy: An Adjunct To Gastroschisis Infants’ Care
NCT01506531Not specifiedCOMPLETEDSilo Versus Primary Closure for Gastroschisis
NCT01884324Not specifiedTERMINATEDRandomized Clinical Trial of Early Delivery in Fetal Gastroschisis vs. Routine Care
NCT02575846Not specifiedCOMPLETEDClinical and Biological Outcomes of Human Milk and Formula Intake After Gastroschisis Repair
NCT03185637Not specifiedCOMPLETEDChildren’s Surgery in Sub-Saharan Africa
NCT03350022Not specifiedCOMPLETEDSham Feeding Post-operative Infants
NCT03520465Not specifiedUNKNOWNUtility of a Supraaponeurotic Mesh as Prophylaxis of the Midline Eventration After an Oncological Colorrectal Resection
NCT03533439Not specifiedCOMPLETEDRegional Blood Saturation Levels in Gastroschisis
NCT03666767Not specifiedCOMPLETEDManagement and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries
NCT03724214Not specifiedUNKNOWNMulti-Centre Gastroschisis Interventional Study Across Sub-Saharan Africa
NCT03765060Not specifiedUNKNOWNThe Efficacy and Security of the Small Stitch Technique in Emergency Surgery
NCT03960320Not specifiedCOMPLETEDHealth Related Quality of Life of Patients With Abdominal Wall Defects
NCT04020939Not specifiedCOMPLETEDThe Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery.
NCT04174807Not specifiedUNKNOWNProspective Study of Antenatal Diagnostic Criteria for Digestive Complications of Gastroschisis
NCT04186039Not specifiedWITHDRAWNFunctional Evaluation of the Fetal Lung by Functional Magnetic Resonance Imaging - Blood Oxygenation Level Dependent (MRI-BOLD), in Congenital Diaphragmatic and Parietal Malformations
NCT04213976Not specifiedUNKNOWNOstomy in Continuity or Conventional Ileostomy: a Retrospective Multicentric Analysis
NCT04713579Not specifiedCOMPLETEDTiming of Stoma Closure in Neonates
NCT05293353Not specifiedUNKNOWNNeokare Safety and Tolerability Assessment in Neonates With GI Problems
NCT06014749Not specifiedCOMPLETEDSerratus Intercostal Block Versus Epidural/Port Infiltration Analgesia in Eventration: Prospective Non Inferiority Study
NCT06461325Not specifiedCOMPLETEDSurgical Management Of Gastroschisis

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
FISH OIL TRIGLYCERIDES41
GLYCERIN41
METOCLOPRAMIDE41
BIFIDOBACTERIUM SPP.31
CHEMBL42370701

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 25

This page pulls from 25 datasets indexed by BioBTree:

chembl_moleculecivic_evidenceclinical_trialsclinvardoidefogardgenccgwasgwas_studyhgncicd10cmicd11meddramedgenmeshmimmondomondochildmondoparentncitnordorphanetsctidumls