MCID: GST009
MIFTS: 53

Gastroschisis

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Gastroschisis

MalaCards integrated aliases for Gastroschisis:

Name: Gastroschisis 56 12 52 58 54 43 15 17 71 32
Laparoschisis 52 58
Congenital Fissure of the Abdominal Cavity 52

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive vs. multifactorial


HPO:

31

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:11044
OMIM 56 230750
ICD9CM 34 756.73
MeSH 43 D020139
NCIt 49 C84725
SNOMED-CT 67 72951007
ICD10 32 Q79.3
MESH via Orphanet 44 D020139
ICD10 via Orphanet 33 Q79.3
UMLS via Orphanet 72 C0265706
Orphanet 58 ORPHA2368
MedGen 41 C0265706
SNOMED-CT via HPO 68 258211005
UMLS 71 C0265706

Summaries for Gastroschisis

NIH Rare Diseases : 52 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.

MalaCards based summary : Gastroschisis, also known as laparoschisis, is related to omphalocele and ileus. An important gene associated with Gastroschisis is AEBP1 (AE Binding Protein 1), and among its related pathways/superpathways are NF-KappaB Family Pathway and Folate Metabolism. The drugs Glycerol and Coconut have been mentioned in the context of this disorder. Affiliated tissues include liver, colon and small intestine, and related phenotypes are gastroschisis and intestinal atresia

OMIM : 56 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)

Wikipedia : 74 Gastroschisis is a birth defect in which the baby's intestines extend outside of the abdomen through a... more...

Related Diseases for Gastroschisis

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

(show top 50) (show all 377)
# Related Disease Score Top Affiliating Genes
1 omphalocele 31.1 TGFB3 MTHFR BMP1 AFP
2 ileus 30.9 IL6 IL1B ICAM1 F2
3 peritonitis 30.5 IL6 IL1B ICAM1 F2
4 acute cystitis 30.3 IL6 IL1B F2 CST3
5 acute kidney failure 30.3 NPPA F2 CST3
6 pericardial effusion 30.2 NPPA IL6 F2
7 preterm premature rupture of the membranes 30.2 MMP1 IL6 IL1B
8 chorioamnionitis 30.1 MMP1 IL6 IL1B
9 pulmonary hypertension 29.9 NPPA NOS3 IL6 IL1B F2 BMP6
10 disseminated intravascular coagulation 29.9 IL6 F5 F2
11 thrombosis 29.9 NOS3 MTHFR F5 F2
12 respiratory failure 29.9 NPPA IL6 IL1B F2 ACHE
13 deficiency anemia 29.9 NPPA IL6 CYP1A1 BMP6
14 placental insufficiency 29.5 IL6 F2 AFP
15 cerebral palsy 29.5 NOS3 MTHFR IL6 IL1B F5 F2
16 anencephaly 29.5 MTHFR AFP ACHE
17 thrombocytopenia 29.2 MTHFR IL6 IL1B ICAM1 F5 F2
18 kidney disease 29.1 NPPA NOS3 MTHFR IL6 CST3 BMP6
19 neural tube defects 29.1 TGFB3 MTHFR F2 CYP1A2 AFP ACHE
20 asthma 28.8 NPPA MMP1 IL6 IL1B ICAM1 F2
21 pre-eclampsia 27.4 TGFB3 NPPA NOS3 MTHFR IL6 IL1B
22 abdominal wall defect 12.5
23 omphalocele, autosomal 11.7
24 paraomphalocele 11.6
25 intestinal atresia 10.8
26 enterocolitis 10.7
27 perinatal necrotizing enterocolitis 10.7
28 short bowel syndrome 10.6
29 volvulus of midgut 10.6
30 prothrombin-related thrombophilia 10.6 MTHFR F2
31 hemifacial spasm 10.5 NOS3 MTHFR
32 lateral sinus thrombosis 10.5 MTHFR F2
33 prosthetic joint infection 10.5 IL6 IL1B
34 compartment syndrome 10.5
35 uremic pruritus 10.5 IL6 IL1B
36 indolent myeloma 10.5 IL6 IL1B
37 lemierre's syndrome 10.4 MTHFR F2
38 umbilical hernia 10.4
39 intestinal obstruction 10.4
40 amaurosis fugax 10.4 MTHFR F5
41 paracetamol poisoning 10.4 F5 F2
42 autoimmune disease of cardiovascular system 10.4 MTHFR IL6 F2
43 encephalomalacia 10.4 MTHFR IL6 IL1B
44 oligohydramnios 10.4
45 blood protein disease 10.4 MTHFR IL6 F2
46 polyhydramnios 10.4
47 buerger disease 10.4 NOS3 MTHFR F2
48 cecal disease 10.4 IL6 IL1B F2
49 livedoid vasculitis 10.4 MTHFR F2
50 pericardium disease 10.4 IL6 IL1B F2

Graphical network of the top 20 diseases related to Gastroschisis:



Diseases related to Gastroschisis

Symptoms & Phenotypes for Gastroschisis

Human phenotypes related to Gastroschisis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastroschisis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001543
2 intestinal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0011100
3 abnormality of mesentery morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0100016
4 abdominal wall defect 31 HP:0010866

Symptoms via clinical synopsis from OMIM:

56
Abdomen:
gastroschisis
anterior abdominal wall defect

Clinical features from OMIM:

230750

GenomeRNAi Phenotypes related to Gastroschisis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 9.02 ADD1 AFP CYP1A1 F5 MTHFR

MGI Mouse Phenotypes related to Gastroschisis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ACHE ADD1 AEBP1 AFP BMP1 CST3
2 growth/size/body region MP:0005378 10.25 ACHE ADD1 AEBP1 BMP1 BMP6 CYP1A1
3 cardiovascular system MP:0005385 10.17 AEBP1 BMP1 CST3 F2 F5 ICAM1
4 hematopoietic system MP:0005397 10.11 ACHE ADD1 BMP1 CYP1A1 F2 ICAM1
5 mortality/aging MP:0010768 10.06 ACHE ADD1 AEBP1 AFP BMP1 CST3
6 liver/biliary system MP:0005370 9.86 AEBP1 AFP CYP1A1 CYP1A2 F5 IL6
7 neoplasm MP:0002006 9.5 AFP CST3 CYP1A2 ICAM1 IL1B IL6
8 nervous system MP:0003631 9.36 ACHE ADD1 CST3 F2 F5 ICAM1

Drugs & Therapeutics for Gastroschisis

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 4 56-81-5 753
2 Coconut Approved Phase 4
3
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
4
Sorbitol Approved Phase 4 50-70-4 5780
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
6 Tocotrienol Investigational Phase 4 6829-55-6
7 Protective Agents Phase 4
8 Gastrointestinal Agents Phase 4
9 Fat Emulsions, Intravenous Phase 4
10 Liver Extracts Phase 4
11 Pharmaceutical Solutions Phase 4
12 Soybean oil, phospholipid emulsion Phase 4
13 Parenteral Nutrition Solutions Phase 4
14 Soy Bean Phase 4
15 Laxatives Phase 4
16 Olive Phase 4
17 Cathartics Phase 4
18 Tocotrienols Phase 4
19 Tocopherols Phase 4
20
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
21
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
22 Omega 3 Fatty Acid Phase 2, Phase 3
23
Bilirubin Phase 2, Phase 3 69853-43-6, 635-65-4 21252250 5280352
24 Dopamine Agents Phase 3
25 Dopamine Antagonists Phase 3
26 Antiemetics Phase 3
27 Neurotransmitter Agents Phase 3
28
Glucagon Approved Phase 1, Phase 2 16941-32-5
29
Erythromycin Approved, Investigational, Vet_approved Phase 2 114-07-8 12560 441411
30 Bifidobacterium Phase 2
31 Hormone Antagonists Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Glucagon-Like Peptide 1 Phase 1, Phase 2
34 Incretins Phase 1, Phase 2
35 Acidophilus Phase 2
36 Erythromycin Estolate Phase 2
37 Erythromycin stearate Phase 2
38 Erythromycin Ethylsuccinate Phase 2
39
Sodium oxybate Approved 502-85-2 5360545
40 Anesthetics
41 Anti-Bacterial Agents
42 Antibiotics, Antitubercular
43 Dialysis Solutions Early Phase 1
44 Fluorides

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 The Use of Gastrografin to Help Alleviate Bowel Obstruction Related to Poor Bowel Motility in Gastroschisis Patients. Recruiting NCT03334578 Phase 4 Gastrografin
2 Evaluation of Routine Administration of Glycerin Suppositories to Improve Bowel Function in Patients With Uncomplicated Gastroschisis Recruiting NCT03355326 Phase 4 Glycerin Suppository
3 Low Dose Parenteral Fat for the Prevention of Parenteral Nutrition Associated Cholestasis in Neonates With Congenital/Acquired Gastrointestinal Disorders Terminated NCT01373918 Phase 4 Intralipid;Intralipid
4 Incidence and Severity of Parenteral Nutrition Associated Cholestasis in Neonates Subjected to Major Surgery, Using Two Mixed Intravenous Lipid Emulsions Terminated NCT02633384 Phase 4
5 Randomized Trial of AMNIOECHANGE in Gastroschisis Affected Foetuses Unknown status NCT00127946 Phase 3
6 Fish Oil Lipid Emulsion for the Treatment of Parenteral-Nutrition-Associated Liver Disease in Infants Completed NCT02370251 Phase 2, Phase 3 Omegaven
7 The Use of Probiotics in the Management of Necrotizing Enterocolitis in HIV-exposed Premature and Very-low Birth Weight Infants Completed NCT01868737 Phase 3
8 Gastroschisis Outcomes of Delivery (GOOD) Study Recruiting NCT02774746 Phase 3
9 The Use of Metoclopramide vs. Placebo in Infants With Gastroschisis. A Pilot Double Blind Randomized Controlled Trial Terminated NCT02098915 Phase 3 intravenous metoclopramide
10 A Multi-Centre, Prospective Randomized Trial to Evaluate Routine Use of a Silastic Spring-Loaded Silo for Infants With Gastroschisis Completed NCT00539292 Phase 2
11 Compassionate Use of an Intravenous Fish Oil Lipid Emulsion (Omegaven®) for the Treatment of Intestinal Failure Associated Liver Disease in Children Completed NCT02328768 Phase 2 Omegaven
12 Phase 1-2 Trial 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
13 Phase 2 Study of Oral Probiotics Reduce the Incidence and Severity of Necrotizing Enterocolitis for Very Low Birth Weight Infants -Multi-Center Randomized Control Trial Terminated NCT00540033 Phase 2
14 The Effect of Music Therapy On Infants Born With Gastroschisis Unknown status NCT01469208
15 The Use of Elemental Formula in Neonates Post Small Bowel Resection: Improved Success to Wean From Total Parenteral Nutrition? Unknown status NCT01891279
16 Evaluation of Abdominal Tissue Oxygenation in Premature Infants Using Near Infrared Spectroscopy Unknown status NCT01855347
17 Evaluation of Feeding Intolerance in Premature Infants Using Near Infrared Spectroscopy Unknown status NCT02534090
18 Probiotics Supplementation and Length of Hospital Stay in Neonates With Gastrointestinal Surgery Unknown status NCT03266315
19 Clinical and Biological Outcomes of Human Milk and Formula Intake After Gastroschisis Repair Completed NCT02575846
20 Bedside Silo Versus Attempted Operative Closure for Gastroschisis Completed NCT01506531
21 Probiotics in Infants With Gastroschisis Completed NCT01316510
22 Regional Haemoglobin Oxygen Saturation in the Splanchnic Circulation in Neonates With Gastroschisis; Quantifying and Qualifying the Role for Routine Monitoring Completed NCT03533439
23 Paediatric Surgery Across Sub-Saharan Africa: A Multi-Centre Prospective Cohort Study Completed NCT03185637
24 Health Related Quality of Life of Patients With Abdominal Wall Defects Completed NCT03960320
25 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
26 Pilot Study on Sham Feeding in Post-operative Gastrointestinal Surgery Infants Completed NCT03350022
27 Sonographic Assessment of the Diaphragm After Plication in Adults With Unilateral Eventration: a Two-centre Experience Completed NCT04052295
28 PREMAPIV : Intravesical Pressure Variation at Different Bladder Instillation Volumes in Newborn Children Completed NCT01296724
29 Intra-Abdominal Hypertension in Neonatal Intensive Care Patients Completed NCT00747552
30 Splanchnic Oxygenation and Perfusion Response to Enteral Feeds in Preterm Infants With Abnormal Antenatal Doppler: Pattern Assessment and Correlation With Feeding Intolerance Completed NCT02971566
31 Randomized Control Trial Evaluating The Effect Of Patterned Oral Somatosensory Entrainment Stimulation Program (NTrainer System) On Suck Development and Feeding Performance of Preterm Infants Born Between 23 And 34 Weeks Gestational Age Completed NCT01069744
32 Integrated Prediction of Extubation Outcome by the Spontaneous Breathing Trial in Newborn Infants Completed NCT03956511
33 Oral Care: An Important Adjunctive Therapy to Improve Feeding Tolerance in Infants With Gastroschisis Recruiting NCT03393832
34 Developing and Implementing an Interventional Bundle to Reduce Mortality From Gastroschisis in Low-Resource Settings Recruiting NCT03724214
35 Direct Peritoneal Resuscitation in Gastroschisis Recruiting NCT03205553 Early Phase 1 Investigational Treatment Group
36 The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery. Recruiting NCT04020939 Indocyanine Green
37 Utility of a Supraaponeurotic Mesh as Prophylaxis of the Midline Eventration After an Oncological Colorrectal Resection Recruiting NCT03520465
38 Fetal Electrophysiologic Abnormalities in High-risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
39 Optimizing Pregnancy and Treatment Interventions for Moms 2.0 Recruiting NCT03833245
40 Somatosensory Modulation of Salivary Gene Expression and Oral Feeding in Preterm Infants Recruiting NCT02696343
41 Functional Magnetic Resonance Imaging - Blood Oxygenation Level Dependent (MRI-BOLD) of the Feta Lung in Congenital Diaphragmatic and Parietal Malformations Not yet recruiting NCT04186039
42 Prospective Study of Antenatal Diagnostic Criteria for Digestive Complications of Gastroschisis Not yet recruiting NCT04174807
43 Ostomy in Continuity or Conventional Ileostomy for Complex Pediatric Intestinal Diseases: a Retrospective Multicentric Analysis Not yet recruiting NCT04213976
44 Sutureless vs Sutured Gastroschisis Closure Terminated NCT01094587
45 Early Delivery in Fetal Gastroschisis: a Randomized Controlled Trial of Elective Early Delivery Versus Routine Obstetrical Care Terminated NCT01884324
46 Bedside Silo Versus Attempted Operative Closure for Gastroschisis: A Pilot Study Terminated NCT00404690
47 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:

40
Liver, Colon, Small Intestine, Heart, Lung, Skin, Testes

Publications for Gastroschisis

Articles related to Gastroschisis:

(show top 50) (show all 2385)
# Title Authors PMID Year
1
Gastroschisis and associated defects: an international study. 56 61 52
17357116 2007
2
Familial cases of gastroschisis in a population-based registry. 61 56 52
8465852 1993
3
Gastroschisis: a gene-environment model involving the VEGF-NOS3 pathway. 61 56
18655103 2008
4
Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research. 56 61
17230493 2007
5
Novel risk factor in gastroschisis: change of paternity. 61 56
17163540 2007
6
Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis. 56 61
17051589 2006
7
Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. 56 61
8533813 1995
8
Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. 56 61
7802013 1994
9
Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. 56 61
1481831 1992
10
Familial abdominal wall defects. 56 61
2530900 1989
11
Familial gastroschisis and omphalocele. 61 56
6211093 1982
12
An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. 61 56
6454342 1981
13
Familial occurrence of gastroschisis. Four new cases and review of the literature. 56 61
155396 1979
14
Closed gastroschisis, vanishing midgut and extreme short bowel syndrome: Case report and review of the literature. 61 52
27867410 2016
15
Outcome differences between simple and complex gastroschisis. 52 61
27845942 2016
16
Gastroschisis--what should be told to parents? 52 61
24375446 2014
17
Fetal abdominal wall defects. 52 61
24342556 2014
18
Alterations of enteric nerve plexus in experimental gastroschisis: is there a delay in the maturation? 61 54
14577076 2003
19
Scanning gel densitometry of amniotic fluid acetylcholinesterase and butyrylcholinesterase: quantification of 'faint-positive' bands in fetal malformations. 61 54
7647148 1995
20
The association between 'faint-positive' amniotic fluid acetylcholinesterase and fetal malformations. 54 61
8140072 1993
21
Amniotic fluid acetylcholinesterase is found in gastroschisis but not omphalocele. 61 54
8240688 1993
22
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level. 61
31900751 2020
23
Prenatal detection of congenital anomalies and related factors in Argentina. 61
31900752 2020
24
Determining maternal risk factors for gastroschisis using colorado's birth registry database. 61
32173119 2020
25
Risk factors for gastroschisis: A case-control study in a Brazilian population. 61
32115707 2020
26
Maternal occupational exposure to solvents and gastroschisis in offspring: are gene-environment interactions playing a role? 61
32513830 2020
27
Abdominal Wall Defects. 61
32482700 2020
28
Ultrasound markers for prediction of complex gastroschisis and adverse outcome: longitudinal prospective nationwide cohort study. 61
31613023 2020
29
Pediatric Surgery Simulation-Based Training for the General Surgery Resident. 61
32561030 2020
30
Gastroschisis: further investigation warranted. 61
32533927 2020
31
Inflammatory Bowel Disease and Risk of Birth Defects in Offspring. 61
31907519 2020
32
Prevalence and predictors of mortality in gastroschisis: a population-based study of 4803 cases in the USA. 61
30477359 2020
33
Major abdominal wall defects in the low- and middle-income setting: current status and priorities. 61
32200405 2020
34
Antenatal corticosteroids and outcomes in gastroschisis: A multicenter retrospective cohort study. 61
32400889 2020
35
Reducing Gastroschisis Mortality: A Quality Improvement Initiative at a Ugandan Pediatric Surgery Unit. 61
31965276 2020
36
Impact of Clinical Factors on the Intestinal Microbiome in Infants With Gastroschisis. 61
32441784 2020
37
Maternal risk factors for gastroschisis: A population-based case-control study. 61
32406607 2020
38
Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis. 61
32163230 2020
39
Intraoperative Findings Associated to Inpatient Mortality From Patients With Gastroschisis in Western Mexico. 61
32417497 2020
40
Variation in hospital costs for gastroschisis closure techniques. 61
32199604 2020
41
Gastroschisis Is Associated With Placental Delayed Villous Maturation. 61
31542993 2020
42
Presence of congenital anomalies in three dog litters. 61
32003081 2020
43
Decentralized surgery of abdominal wall defects in Germany. 61
32219563 2020
44
Sex differences in surgically correctable congenital anomalies: A systematic review. 61
32061363 2020
45
Utility of Formulas Using Fetal Thigh Soft Tissue Thickness in Estimating Weight in Gastroschisis. 61
32320090 2020
46
Gastroschisis in the neonatal period: A prospective case-series in a Brazilian referral center. 61
32467036 2020
47
The association between gestational age at delivery, closure type and perinatal outcomes in neonates with isolated gastroschisis. 61
30173575 2020
48
Extra-abdominal Cryptorchidism Associated With Gastroschisis and Impacted Urethral Calculus: Two Uncommon Urologic Conditions in One Patient. 61
32320791 2020
49
Accuracy of sonographic estimation of weight in fetuses with abdominal wall defects. 61
32291746 2020
50
Donor mesenchymal stem cell kinetics after transamniotic stem cell therapy (TRASCET) in a rodent model of gastroschisis. 61
31813581 2020

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 TGFB3 IL6 IL1B BMP6 BMP1
2
Show member pathways
12.16 MTHFR IL6 IL1B ICAM1 F2
3
Show member pathways
12.14 TGFB3 IL6 IL1B BMP6 BMP1
4 11.84 MMP1 IL6 IL1B ICAM1
5
Show member pathways
11.71 TGFB3 IL6 IL1B
6 11.62 MMP1 IL6 ICAM1 AFP
7
Show member pathways
11.47 MMP1 IL6 IL1B ICAM1
8 11.42 IL6 IL1B ICAM1
9 11.4 IL1B CYP1A2 CYP1A1
10 11.35 TGFB3 NOS3 IL6 IL1B ICAM1
11 11.27 CYP1A2 CYP1A1 ACHE
12 11.26 TGFB3 IL6 IL1B ICAM1
13 11.22 NOS3 MMP1 IL6
14 11.16 MTHFR IL6 IL1B
15 11.03 IL1B ICAM1 F2
16 11.02 NPPA IL6 IL1B ICAM1
17 10.99 TGFB3 MMP1 IL6 IL1B ICAM1
18 10.58 TGFB3 IL6 IL1B

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 9.77 TGFB3 NPPA MMP1 IL6 IL1B F5
2 collagen-containing extracellular matrix GO:0062023 9.65 TGFB3 NPPA ICAM1 F2 AEBP1
3 vesicle GO:0031982 9.62 IL1B CST3 BMP6 BMP1
4 endoplasmic reticulum lumen GO:0005788 9.55 IL6 F5 F2 CST3 AFP
5 extracellular space GO:0005615 9.44 TGFB3 NPPA IL6 IL1B ICAM1 F5

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.85 TGFB3 IL6 IL1B F2 CST3 BMP6
2 leukocyte migration GO:0050900 9.83 MMP1 IL1B ICAM1 F2
3 response to drug GO:0042493 9.8 MTHFR ICAM1 CYP1A2 CYP1A1 CST3
4 cellular response to mechanical stimulus GO:0071260 9.76 NPPA IL1B BMP6
5 SMAD protein signal transduction GO:0060395 9.69 TGFB3 BMP6 AFP
6 positive regulation of protein secretion GO:0050714 9.63 TGFB3 BMP6 ACHE
7 positive regulation of epithelial to mesenchymal transition GO:0010718 9.61 TGFB3 IL6 IL1B
8 positive regulation of neuroinflammatory response GO:0150078 9.59 IL6 IL1B
9 omega-hydroxylase P450 pathway GO:0097267 9.58 CYP1A2 CYP1A1
10 negative regulation of platelet activation GO:0010544 9.57 NOS3 F2
11 toxin metabolic process GO:0009404 9.56 CYP1A2 CYP1A1
12 response to organic cyclic compound GO:0014070 9.56 ICAM1 CYP1A2 CYP1A1 CST3
13 hydrogen peroxide biosynthetic process GO:0050665 9.55 CYP1A2 CYP1A1
14 response to lipopolysaccharide GO:0032496 9.55 NOS3 IL1B ICAM1 CYP1A2 CYP1A1
15 ovulation from ovarian follicle GO:0001542 9.54 NOS3 AFP
16 heterocycle metabolic process GO:0046483 9.49 CYP1A2 CYP1A1
17 porphyrin-containing compound metabolic process GO:0006778 9.48 CYP1A2 CYP1A1
18 response to hypoxia GO:0001666 9.43 TGFB3 NPPA MTHFR ICAM1 CYP1A1 CST3
19 dibenzo-p-dioxin metabolic process GO:0018894 9.32 CYP1A2 CYP1A1
20 cellular protein metabolic process GO:0044267 9.17 NPPA MMP1 IL6 F5 F2 CST3

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.35 TGFB3 IL6 IL1B BMP6 BMP1
2 estrogen 16-alpha-hydroxylase activity GO:0101020 9.32 CYP1A2 CYP1A1
3 demethylase activity GO:0032451 9.26 CYP1A2 CYP1A1
4 estrogen 2-hydroxylase activity GO:0101021 9.16 CYP1A2 CYP1A1
5 growth factor activity GO:0008083 9.02 TGFB3 IL6 F2 BMP6 BMP1

Sources for Gastroschisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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