MCID: GST009
MIFTS: 55

Gastroschisis

Categories: Rare diseases, Gastrointestinal diseases, Fetal diseases

Aliases & Classifications for Gastroschisis

MalaCards integrated aliases for Gastroschisis:

Name: Gastroschisis 53 12 49 55 51 41 14 69
Laparoschisis 49 55
Congenital Fissure of the Abdominal Cavity 49

Characteristics:

Orphanet epidemiological data:

55
gastroschisis
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-9/100000 (Hungary),1-5/10000 (Ireland),1-9/100000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-5/10000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive vs. multifactorial


Classifications:



External Ids:

OMIM 53 230750
Disease Ontology 12 DOID:11044
ICD10 32 Q79.3
ICD9CM 34 756.73
MeSH 41 D020139
NCIt 46 C84725
SNOMED-CT 64 72951007
Orphanet 55 ORPHA2368
MESH via Orphanet 42 D020139
UMLS via Orphanet 70 C0265706
ICD10 via Orphanet 33 Q79.3
MedGen 39 C0265706
UMLS 69 C0265706

Summaries for Gastroschisis

NIH Rare Diseases : 49 Gastroschisis is a birth defect that occurs when a baby's intestines extend outside of the body through a hole next to the belly button. This type of defect is known as an abdominal wall defect. Sometimes other organs are also involved.   The exact cause of a gastroschisis is usually not known, but it is more common in babies born to young mothers or to mothers who may have used alcohol or tobacco during their pregnancies. Gastroschisis is typically diagnosed on routine ultrasound examinations before a baby is born. These babies may need to be born in hospitals with specialists who are experienced in treating gastroschisis. Treatment includes a special kind of surgery that gradually returns the intestines to the abdomen (silo repair).Prognosis depends primarily on the degree of injury to the bowel, and on the presence of other birth defects. Though long-term outcomes for babies born with simple gastroschisis are generally good, some children may have problems with digestion later in life. Complications from gastroschisis can include intestinal problems, breathing difficulties, and infection. Some cases of gastroschisis may resolve in utero, with closure of the hole of the abdominal wall, resulting in strangulation and destruction of the herniated bowel (vanishing gastroschisis or vanishing gut syndrome), and very short-bowel syndrome. Other complications include incomplete bowel (atresia), destruction (necrosis), perforation or twisting (volvulos). The prognosis of these cases is poor, but detecting these problems during pregnancy (antenatal diagnosis) and having fetal intervention may improve the outcome in the future. Last updated: 11/21/2016

MalaCards based summary : Gastroschisis, also known as laparoschisis, is related to perinatal necrotizing enterocolitis and abdominal wall defect, and has symptoms including intestinal atresia, abnormality of the mesentery and abnormality of mesentery morphology. An important gene associated with Gastroschisis is AEBP1 (AE Binding Protein 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and NF-KappaB Family Pathway. The drugs Glycerol and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, small intestine and colon, and related phenotypes are growth/size/body region and homeostasis/metabolism

OMIM : 53 Gastroschisis is a congenital defect of the abdominal wall that occurs laterally to, and often to the right of, a normally closed umbilical ring. Visceral organs that herniate through the defect are not covered by a membrane. Gastroschisis is distinct from omphalocele (164750), which is characterized by herniation of abdominal contents through the base of the umbilical cord; in omphalocele, the visceral organs are covered by membranes (summary by Mastroiacovo et al., 2007). Both omphalocele and gastroschisis, when they occur without other malformations, are probably multifactorial (Baird and MacDonald, 1981). (230750)

Related Diseases for Gastroschisis

Diseases related to Gastroschisis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 perinatal necrotizing enterocolitis 29.6 IL1B IL6
2 abdominal wall defect 11.9
3 omphalocele, autosomal 11.1
4 omphalocele 10.7
5 osteoporotic fracture 10.4 IL6 MTHFR
6 sudden sensorineural hearing loss 10.4 IL6 MTHFR
7 ischemic heart disease 10.4 IL6 MTHFR
8 encephalomalacia 10.3 IL6 MTHFR
9 central retinal vein occlusion 10.3 IL6 MTHFR
10 hematopoietic stem cell transplantation 10.3 IL6 MTHFR
11 amaurosis fugax 10.3 MMP8 MTHFR
12 recurrent corneal erosion 10.2 IL1B IL6
13 bagassosis 10.2 IL1B IL6
14 aging 10.2
15 uremic pruritus 10.2 IL1B IL6
16 funisitis 10.2 IL1B IL6
17 euthyroid sick syndrome 10.2 IL1B IL6
18 laryngitis 10.2 IL1B IL6
19 intestinal atresia 10.2
20 ascaris lumbricoides infection 10.2 IL1B IL6
21 acute vascular insufficiency of intestine 10.2 IL1B IL6
22 poems syndrome 10.2 IL1B IL6
23 burning mouth syndrome 10.2 IL1B IL6
24 central nervous system vasculitis 10.2 IL1B IL6
25 osteosclerotic myeloma 10.2 IL1B IL6
26 stachybotrys chartarum 10.2 IL1B IL6
27 vaginal disease 10.2 IL1B IL6
28 vaginitis 10.2 IL1B IL6
29 endometrial disease 10.2 IL1B IL6
30 primary amebic meningoencephalitis 10.2 IL1B IL6
31 cysticercosis 10.2 IL1B IL6
32 eales disease 10.2 IL1B IL6
33 endometritis 10.2 IL1B IL6
34 pulpitis 10.1 IL1B IL6
35 lacrimal apparatus disease 10.1 IL1B IL6
36 adult-onset still's disease 10.1 IL1B IL6
37 preterm premature rupture of the membranes 10.1 IL6 MMP8
38 viral encephalitis 10.1 IL1B IL6
39 aphthous stomatitis 10.1 IL1B IL6
40 commensal bacterial infectious disease 10.1 IL1B IL6
41 rosacea 10.1 IL6 MMP8
42 periapical periodontitis 10.1 IL1B MMP8
43 buerger disease 10.1 MMP3 MTHFR
44 acute respiratory distress syndrome 10.1 IL1B IL6
45 dengue shock syndrome 10.0 IL1B IL6
46 uterine anomalies 10.0 IL1B IL6 MTHFR
47 cerebral palsy 10.0 IL1B IL6 MTHFR
48 extrinsic cardiomyopathy 10.0 IL1B IL6
49 arteries, anomalies of 10.0 IL1B IL6 MTHFR
50 cerebrovascular disease 10.0 ACHE IL6 MTHFR

Graphical network of the top 20 diseases related to Gastroschisis:



Diseases related to Gastroschisis

Symptoms & Phenotypes for Gastroschisis

Symptoms via clinical synopsis from OMIM:

53
Abdomen:
gastroschisis
anterior abdominal wall defect


Clinical features from OMIM:

230750

Human phenotypes related to Gastroschisis:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intestinal atresia 55 31 frequent (33%) Frequent (79-30%) HP:0011100
2 gastroschisis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001543
3 abnormality of the mesentery 55 Occasional (29-5%)
4 abnormality of mesentery morphology 31 occasional (7.5%) HP:0100016

MGI Mouse Phenotypes related to Gastroschisis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 IL6 MTHFR TGFB3 ACHE ADD1 AEBP1
2 homeostasis/metabolism MP:0005376 9.96 ACHE ADD1 AEBP1 BMP1 IL1B IL6
3 hematopoietic system MP:0005397 9.87 ACHE ADD1 BMP1 IL1B IL6 MMP3
4 mortality/aging MP:0010768 9.76 ACHE ADD1 AEBP1 BMP1 IL1B IL6
5 nervous system MP:0003631 9.5 MMP3 MTHFR TGFB3 ACHE ADD1 IL1B
6 skeleton MP:0005390 9.1 BMP1 IL1B IL6 MMP3 MTHFR TGFB3

Drugs & Therapeutics for Gastroschisis

Drugs for Gastroschisis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 4 56-81-5 753
2 Protective Agents Phase 4
3
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
4
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
5 Antiemetics Phase 3
6 Autonomic Agents Phase 3
7 Dopamine Agents Phase 3
8 Dopamine Antagonists Phase 3
9 Dopamine D2 Receptor Antagonists Phase 3
10 Gastrointestinal Agents Phase 3,Phase 1,Phase 2
11 Neurotransmitter Agents Phase 3
12 Peripheral Nervous System Agents Phase 3
13
Bilirubin Phase 2, Phase 3 635-65-4 5280352
14 Fat Emulsions, Intravenous Phase 2, Phase 3
15 Liver Extracts Phase 2, Phase 3
16 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
17 glucagon Phase 1, Phase 2
18 Glucagon-Like Peptide 1 Phase 1, Phase 2
19 Hormone Antagonists Phase 1, Phase 2
20 Hormones Phase 1, Phase 2
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
22 Incretins Phase 1, Phase 2
23 Anti-Bacterial Agents
24 Antibiotics, Antitubercular
25 Micronutrients
26 Pharmaceutical Solutions
27 Trace Elements
28 Vitamins
29 Dialysis Solutions Early Phase 1
30 Bifidobacterium Nutraceutical
31 lysine Nutraceutical

Interventional clinical trials:

(show all 29)

# Name Status NCT ID Phase Drugs
1 Evaluation of Glycerin Suppositories to Improve Bowel Function in Gastroschisis Recruiting NCT03355326 Phase 4 Glycerin Suppository
2 Prophylaxis of Ileostomy Closure Site Hernia by Placing Mesh Recruiting NCT02226887 Phase 4
3 The Use of Gastrografin to Help Alleviate Bowel Obstruction in Gastroschisis Patients. Not yet recruiting NCT03334578 Phase 4 Gastrografin
4 Trial of AMNIOECHANGE in Gastroschisis Affected Foetuses Unknown status NCT00127946 Phase 3
5 Metoclopramide Pilot Trial Recruiting NCT02098915 Phase 3 intravenous metoclopramide
6 Compassionate Use of Omegaven in Children Recruiting NCT02370251 Phase 2, Phase 3 Omegaven
7 Evaluating the Use of a Silastic Spring-Loaded Silo for Infants With Gastroschisis Completed NCT00539292 Phase 2
8 Safety and Dosing Study of Glucagon-like Peptide 2 (GLP-2) in Infants and Children With Intestinal Failure Terminated NCT01573286 Phase 1, Phase 2 Glucagon-Like Peptide 2;Glucagon like peptide-2
9 Music Therapy: An Adjunct To Gastroschisis Infants' Care Unknown status NCT01469208
10 Probiotics in Infants With Gastroschisis Unknown status NCT01316510
11 Elemental Formula in Neonates Post Small Bowel Resection: Improved Weaning From Total Parenteral Nutrition? Unknown status NCT01891279
12 Clinical and Biological Outcomes of Human Milk and Formula Intake After Gastroschisis Repair Completed NCT02575846
13 Children's Surgery in Sub-Saharan Africa Completed NCT03185637
14 ProLOVE - Prospective Randomized Study of Midline Incisional Hernia Treatment Completed NCT00472537
15 PREMAPIV : Intravesical Pressure Variation at Different Bladder Instillation Volumes in Newborn Children Completed NCT01296724
16 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
17 Silo Versus Primary Closure for Gastroschisis Recruiting NCT01506531
18 Oral Care in Infants With Gastroschisis Recruiting NCT03393832
19 Direct Peritoneal Resuscitation in Gastroschisis Recruiting NCT03205553 Early Phase 1 Investigational Treatment Group
20 Gastroschisis Outcomes of Delivery (GOOD) Study Recruiting NCT02774746
21 Genetic Analysis of Congenital Diaphragmatic Disorders Recruiting NCT01243229
22 Sham Feeding Post-operative Infants Recruiting NCT03350022
23 Interest of the Manual Exploration as a Supplement to the Coelioscopy in the Evaluation of the Resectability of Peritoneal Carcinosis Recruiting NCT02493972
24 Primary Fascial Closure With Laparoscopic Ventral Hernia Repair: A Randomized Controlled Trial Active, not recruiting NCT02363790
25 Impact of the Systematic Closure of the Epigastric Trocar on Postoperative Incisional Hernia After Sleeve Gastrectomy Rate of First Intention. Monocentric Study, Before / After Prospective. Not yet recruiting NCT02973009
26 Sutureless vs Sutured Gastroschisis Closure Terminated NCT01094587
27 Randomized Clinical Trial of Early Delivery in Fetal Gastroschisis vs. Routine Care Terminated NCT01884324
28 Bedside Silo Versus Operative Closure for Gastroschisis Terminated NCT00404690
29 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815

Search NIH Clinical Center for Gastroschisis

Cochrane evidence based reviews: gastroschisis

Genetic Tests for Gastroschisis

Anatomical Context for Gastroschisis

MalaCards organs/tissues related to Gastroschisis:

38
Liver, Small Intestine, Colon, Skin, Heart, Smooth Muscle, Testis

Publications for Gastroschisis

Articles related to Gastroschisis:

(show top 50) (show all 761)
# Title Authors Year
1
An evaluation of nutritional and vasoactive stimulants as risk factors for gastroschisis: a pilot study. ( 29415587 )
2018
2
Closed gastroschisis with left defect: a rare variant. ( 29367227 )
2018
3
Nutrition Delivery and Growth Outcomes in Infants With Gastroschisis. ( 29338079 )
2018
4
Prevalence, Mortality, and Spatial Distribution of Gastroschisis in Mexico. ( 29317257 )
2018
5
Predicting birth weight in fetuses with gastroschisis. ( 29266095 )
2018
6
The influence of gestational age, mode of delivery and abdominal wall closure method on the surgical outcome of neonates with uncomplicated gastroschisis. ( 29417204 )
2018
7
Understanding gastroschisis and its clinical management: where are we? ( 29419329 )
2018
8
Familial occurrence of gastroschisis: a population-based overview on recurrence risk, sex-dependent influence, and geographical distribution. ( 29335896 )
2018
9
Omphalocele and Gastroschisis in Newborns: Over 16 Years of Experience from a Single Clinic. ( 28770124 )
2017
10
Understanding the relationship between hospital volume and patient outcomes for infants with gastroschisis. ( 28947327 )
2017
11
Evaluation of familial factors in a Mexican population-based setting with gastroschisis: Further evidence for an underlying genetic susceptibility. ( 28935396 )
2017
12
Newborn with Gastroschisis associated with Limb Anomalies. ( 28770152 )
2017
13
Complicated Gastroschisis Is Associated with Greater Intestinal Morbidity than Gastroschisis or Intestinal Atresia Alone. ( 28977809 )
2017
14
Not gastroschisis or omphalocele or anything in between: a novel congenital abdominal wall defect. ( 28271155 )
2017
15
Maternal Stressors and Social Support and Risks of Delivering Babies With Gastroschisis or Hypospadias. ( 28505275 )
2017
16
Outcomes of gastroschisis early delivery: A systematic review and meta-analysis. ( 28947324 )
2017
17
The use of ECMO for gastroschisis and omphalocele: Two decades of experience. ( 28410786 )
2017
18
The Gastroschisis Puzzle: Where are We and What is Next? ( 29096040 )
2017
19
Newborn with Gastroschisis associated with Limb Anomalies. ( 28083494 )
2017
20
Transamniotic stem cell therapy (TRASCET) in a leporine model of gastroschisis. ( 27836365 )
2017
21
Closed Gastroschisis. ( 28920021 )
2017
22
Left-Sided Gastroschisis with Meckel's Diverticulum: A Rare Presentation. ( 28920030 )
2017
23
Possible etiologies of increased incidence of gastroschisis. ( 28952022 )
2017
24
Chylous Ascites in a Newborn with Gastroschisis. Case Report. ( 28083502 )
2017
25
Outcome of neonates with gastroschisis at different gestational ages using a national database. ( 28780310 )
2017
26
Novel multidisciplinary approach to monitor and treat fetuses with gastroschisis using the Svetliza Reducibility Index and the EXIT-like procedure. ( 29364360 )
2017
27
Evaluation of Early Onset Sepsis, Complete Blood Count, and Antibiotic Use in Gastroschisis. ( 29084414 )
2017
28
Re-Tubularization of Highly-Ischemic Anti-Mesenteric Border (ReHAB): A Novel Bowel Preservation Technique in Complex Gastroschisis. ( 28920023 )
2017
29
The Effect of Level of Care on Gastroschisis Outcomes. ( 29144275 )
2017
30
Infectious outcomes of gastroschisis patients with intraoperative hypothermia. ( 28688668 )
2017
31
Chlamydia trachomatis Is Responsible for Lipid Vacuolation in the Amniotic Epithelium of Fetal Gastroschisis. ( 28635162 )
2017
32
Prenatal markers and longitudinal follow-up in simple and complex gastroschisis. ( 28615305 )
2017
33
Use of quality improvement (QI) methodology to decrease length of stay (LOS) for newborns with uncomplicated gastroschisis. ( 29291893 )
2017
34
Left Sided Gastroschisis. ( 28770150 )
2017
35
Preoperative metabolic acidosis in infants with gastroschisis. ( 28854513 )
2017
36
Contemporary Outcomes of Infants with Gastroschisis in North America: A Multicenter Cohort Study. ( 28712519 )
2017
37
Monitoring and treating fetuses with gastroschisis using the Svetliza Reducibility Index (SRI) and the EXIT-like procedure - a novel approach. ( 29364359 )
2017
38
Maternal Chlamydia infection during pregnancy among younger mothers and risk of gastroschisis in singleton offspring. ( 29193865 )
2017
39
Clinicoplacental correlates of amniocyte vacuolization in association with gastroschisis. ( 28864023 )
2017
40
Surgery Requiring Detailed Preoperative Simulation and Scar De-epithelialization to Repair Severe Postoperative Scarring from Gastroschisis. ( 28728331 )
2017
41
The significance of organ prolapse in gastroschisis. ( 28951014 )
2017
42
Mode of delivery and outcomes of infants with gastroschisis: a meta-analysis of observational studies. ( 28970315 )
2017
43
Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors. ( 28841756 )
2017
44
Fetal growth standards in gastroschisis: Reference values for ultrasound measurements. ( 29110317 )
2017
45
Gastroschisis: A Review of Management and Outcomes. ( 27640608 )
2016
46
Oligohydramnios and growth restriction do not portend worse prognosis in gastroschisis pregnancies. ( 26932657 )
2016
47
Response to Letter to the Editor Regarding "Probiotic Administration in Infants with Gastroschisis: a Pilot Randomized Placebo-controlled Trial". ( 27579695 )
2016
48
The Influence of Infectious Complications in Gastroschisis on Costs and Length of Stay. ( 27240097 )
2016
49
Intra-Amniotic Hemorrhage Imitating Gastroschisis: A Case Report and Review of the Literature. ( 27760979 )
2016
50
Gastroschisis in a fetus with a congenital neuroblastoma: Association or coincidence? ( 26875914 )
2016

Variations for Gastroschisis

Expression for Gastroschisis

Search GEO for disease gene expression data for Gastroschisis.

Pathways for Gastroschisis

Pathways related to Gastroschisis according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 BMP1 MMP3 MMP8 TGFB3
2
Show member pathways
12.43 BMP1 IL1B IL6 TGFB3
3
Show member pathways
12.09 IL1B IL6 MTHFR
4
Show member pathways
12.08 IL1B IL6 MMP3
5 11.97 IL1B IL6 TGFB3
6 11.73 IL1B IL6 MMP3
7 11.69 IL1B IL6 MMP3
8 11.63 IL1B IL6 TGFB3
9 11.59 IL1B IL6 TGFB3
10
Show member pathways
11.54 IL1B IL6 TGFB3
11
Show member pathways
11.34 IL1B IL6 MMP3
12 11.21 IL1B IL6 MMP3 TGFB3
13 11.19 IL1B IL6 TGFB3
14 11.15 IL1B IL6
15 11.14 IL1B IL6
16 11.14 IL1B IL6
17 11.07 IL1B IL6
18 11.03 IL1B IL6
19 10.82 IL1B IL6 MTHFR
20 10.79 BMP1 IL1B IL6 TGFB3
21 10.75 BMP1 IL1B IL6 TGFB3
22 9.88 IL1B IL6 TGFB3

GO Terms for Gastroschisis

Cellular components related to Gastroschisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 ACHE AEBP1 BMP1 IL1B IL6 MMP3
2 extracellular matrix GO:0031012 9.46 AEBP1 MMP3 MMP8 TGFB3
3 extracellular space GO:0005615 9.23 ACHE AEBP1 BMP1 IL1B IL6 MMP3

Biological processes related to Gastroschisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.26 BMP1 IL1B IL6 TGFB3
2 positive regulation of protein secretion GO:0050714 9.16 ACHE TGFB3
3 extracellular matrix disassembly GO:0022617 8.8 BMP1 MMP3 MMP8

Molecular functions related to Gastroschisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 9.43 BMP1 MMP3 MMP8
2 growth factor activity GO:0008083 9.33 BMP1 IL6 TGFB3
3 metalloendopeptidase activity GO:0004222 9.13 BMP1 MMP3 MMP8
4 cytokine activity GO:0005125 8.92 BMP1 IL1B IL6 TGFB3

Sources for Gastroschisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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