MCID: GST009
MIFTS: 40

Gastroschisis

Categories: Rare diseases, Gastrointestinal diseases, Fetal diseases

Aliases & Classifications for Gastroschisis

MalaCards integrated aliases for Gastroschisis:

Name: Gastroschisis 54 12 50 56 52 42 14 69
Laparoschisis 50 56
Congenital Fissure of the Abdominal Cavity 50

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal recessive vs. multifactorial


Classifications:



External Ids:

OMIM 54 230750
Disease Ontology 12 DOID:11044
ICD10 33 Q79.3
ICD9CM 35 756.73
MeSH 42 D020139
NCIt 47 C84725
SNOMED-CT 64 72951007
Orphanet 56 ORPHA2368
MESH via Orphanet 43 D020139
UMLS via Orphanet 70 C0265706
ICD10 via Orphanet 34 Q79.3
SNOMED-CT via HPO 65 72951007
UMLS 69 C0265706

Summaries for Gastroschisis

NIH Rare Diseases : 50 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 abdominal wall defect and paraomphalocele, 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). The drugs Dopamine and Metoclopramide have been mentioned in the context of this disorder. Affiliated tissues include liver, small intestine and colon.

OMIM : 54
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 : 72 Gastroschisis is a birth defect in which the baby\'s intestines extend outside of the body 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 61)
id Related Disease Score Top Affiliating Genes
1 abdominal wall defect 11.8
2 paraomphalocele 10.8
3 omphalocele 10.6
4 intestinal atresia 10.1
5 birth defects 10.1
6 congenital diaphragmatic hernia 9.9
7 short bowel syndrome 9.8
8 jejunal atresia 9.8
9 esophagitis 9.8
10 oligohydramnios 9.8
11 ischemia 9.7
12 colonic atresia 9.7
13 craniosynostosis 9.7
14 chlamydia 9.7
15 orofacial cleft 9.7
16 neuronitis 9.7
17 neural tube defects 9.7
18 prune belly syndrome 9.7
19 cloacal exstrophy 9.7
20 cryptorchidism 9.7
21 gastric dilatation 9.7
22 imperforate anus 9.5
23 teratoma 9.5
24 sternal cleft 9.5
25 craniorachischisis 9.5
26 cerebritis 9.5
27 hypospadias 9.5
28 turner syndrome 9.5
29 multicystic dysplastic kidney 9.5
30 hepatitis 9.5
31 respiratory failure 9.5
32 retinitis 9.5
33 ectopia cordis 9.5
34 liver disease 9.5
35 bilateral multicystic dysplastic kidney 9.5
36 sacrococcygeal teratoma 9.5
37 clubfoot 9.5
38 urinary tract obstruction 9.5
39 monosomy 22 9.5
40 hyperphosphatemia 9.5
41 retinal detachment 9.5
42 situs inversus 9.5
43 metabolic acidosis 9.5
44 pyloric stenosis 9.5
45 neuroblastoma 9.5
46 bruck syndrome 9.5
47 megaloblastic anemia 9.5
48 choledochal cyst 9.5
49 umbilical hernia 9.5
50 urethritis 9.5

Graphical network of the top 20 diseases related to Gastroschisis:



Diseases related to Gastroschisis

Symptoms & Phenotypes for Gastroschisis

Symptoms via clinical synopsis from OMIM:

54

Abdomen:
gastroschisis
anterior abdominal wall defect


Clinical features from OMIM:

230750

Human phenotypes related to Gastroschisis:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intestinal atresia 56 32 frequent (33%) Frequent (79-30%) HP:0011100
2 gastroschisis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001543
3 abnormality of the mesentery 56 Occasional (29-5%)
4 abnormality of mesentery morphology 32 occasional (7.5%) HP:0100016

Drugs & Therapeutics for Gastroschisis

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

(show all 34)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
2
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
3 Antiemetics Phase 3
4 Autonomic Agents Phase 3
5 Dopamine Agents Phase 3
6 Dopamine Antagonists Phase 3
7 Dopamine D2 Receptor Antagonists Phase 3
8 Gastrointestinal Agents Phase 3,Phase 1,Phase 2
9 Neurotransmitter Agents Phase 3
10 Peripheral Nervous System Agents Phase 3
11 Pharmaceutical Solutions Phase 2
12 Antioxidants Phase 2
13
Bilirubin Phase 2 635-65-4 5280352
14 Fat Emulsions, Intravenous Phase 2
15 Liver Extracts Phase 2
16 Parenteral Nutrition Solutions Phase 2
17 Protective Agents Phase 2
18 Soybean oil, phospholipid emulsion Phase 2
19 glucagon Phase 1, Phase 2
20 Glucagon-Like Peptide 1 Phase 1, Phase 2
21 Hormone Antagonists Phase 1, Phase 2
22 Hormones Phase 1, Phase 2
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
24 Incretins Phase 1, Phase 2
25 Omega 3 Fatty Acid Nutraceutical Phase 2
26 Soy Bean Nutraceutical Phase 2
27 Anti-Bacterial Agents
28 Antibiotics, Antitubercular
29 Micronutrients
30 Trace Elements
31 Vitamins
32 Dialysis Solutions Early Phase 1
33 Bifidobacterium Nutraceutical
34 lysine Nutraceutical

Interventional clinical trials:

(show all 25)

id Name Status NCT ID Phase Drugs
1 Prophylaxis of Ileostomy Closure Site Hernia by Placing Mesh Recruiting NCT02226887 Phase 4
2 Trial of AMNIOECHANGE in Gastroschisis Affected Foetuses Unknown status NCT00127946 Phase 3
3 Metoclopramide Pilot Trial Recruiting NCT02098915 Phase 3 intravenous metoclopramide
4 Evaluating the Use of a Silastic Spring-Loaded Silo for Infants With Gastroschisis Completed NCT00539292 Phase 2
5 Compassionate Use of Omegaven in Children Recruiting NCT02370251 Phase 2 Omegaven;Omegaven + Intralipid
6 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
7 Music Therapy: An Adjunct To Gastroschisis Infants' Care Unknown status NCT01469208
8 Probiotics in Infants With Gastroschisis Unknown status NCT01316510
9 Elemental Formula in Neonates Post Small Bowel Resection: Improved Weaning From Total Parenteral Nutrition? Unknown status NCT01891279
10 Clinical and Biological Outcomes of Human Milk and Formula Intake After Gastroschisis Repair Completed NCT02575846
11 Children's Surgery in Sub-Saharan Africa Completed NCT03185637
12 ProLOVE - Prospective Randomized Study of Midline Incisional Hernia Treatment Completed NCT00472537
13 PREMAPIV : Intravesical Pressure Variation at Different Bladder Instillation Volumes in Newborn Children Completed NCT01296724
14 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
15 Silo Versus Primary Closure for Gastroschisis Recruiting NCT01506531
16 Gastroschisis Outcomes of Delivery (GOOD) Study Recruiting NCT02774746
17 Genetic Analysis of Congenital Diaphragmatic Disorders Recruiting NCT01243229
18 Interest of the Manual Exploration as a Supplement to the Coelioscopy in the Evaluation of the Resectability of Peritoneal Carcinosis Recruiting NCT02493972
19 Primary Fascial Closure With Laparoscopic Ventral Hernia Repair: A Randomized Controlled Trial Active, not recruiting NCT02363790
20 Direct Peritoneal Resuscitation in Gastroschisis Not yet recruiting NCT03205553 Early Phase 1 Investigational Treatment Group
21 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
22 Sutureless vs Sutured Gastroschisis Closure Terminated NCT01094587
23 Randomized Clinical Trial of Early Delivery in Fetal Gastroschisis vs. Routine Care Terminated NCT01884324
24 Bedside Silo Versus Operative Closure for Gastroschisis Terminated NCT00404690
25 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:

39
Liver, Small Intestine, Colon, Heart, Skin, Smooth Muscle, Testis

Publications for Gastroschisis

Articles related to Gastroschisis:

(show top 50) (show all 743)
id Title Authors Year
1
Outcomes of gastroschisis early delivery: A systematic review and meta-analysis. ( 28947324 )
2017
2
Not gastroschisis or omphalocele or anything in between: a novel congenital abdominal wall defect. ( 28271155 )
2017
3
Possible etiologies of increased incidence of gastroschisis. ( 28952022 )
2017
4
Newborn with Gastroschisis associated with Limb Anomalies. ( 28083494 )
2017
5
Re-Tubularization of Highly-Ischemic Anti-Mesenteric Border (ReHAB): A Novel Bowel Preservation Technique in Complex Gastroschisis. ( 28920023 )
2017
6
Evaluation of familial factors in a Mexican population-based setting with gastroschisis: Further evidence for an underlying genetic susceptibility. ( 28935396 )
2017
7
Transamniotic stem cell therapy (TRASCET) in a leporine model of gastroschisis. ( 27836365 )
2017
8
The significance of organ prolapse in gastroschisis. ( 28951014 )
2017
9
Newborn with Gastroschisis associated with Limb Anomalies. ( 28770152 )
2017
10
Clinicoplacental correlates of amniocyte vacuolization in association with gastroschisis. ( 28864023 )
2017
11
Left Sided Gastroschisis. ( 28770150 )
2017
12
Understanding the relationship between hospital volume and patient outcomes for infants with gastroschisis. ( 28947327 )
2017
13
Chlamydia trachomatis Is Responsible for Lipid Vacuolation in the Amniotic Epithelium of Fetal Gastroschisis. ( 28635162 )
2017
14
Outcome of neonates with gastroschisis at different gestational ages using a national database. ( 28780310 )
2017
15
Chylous Ascites in a Newborn with Gastroschisis. Case Report. ( 28083502 )
2017
16
Left-Sided Gastroschisis with Meckel's Diverticulum: A Rare Presentation. ( 28920030 )
2017
17
Preoperative metabolic acidosis in infants with gastroschisis. ( 28854513 )
2017
18
Closed Gastroschisis. ( 28920021 )
2017
19
Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors. ( 28841756 )
2017
20
Maternal Stressors and Social Support and Risks of Delivering Babies With Gastroschisis or Hypospadias. ( 28505275 )
2017
21
The use of ECMO for gastroschisis and omphalocele: Two decades of experience. ( 28410786 )
2017
22
Prenatal markers and longitudinal follow-up in simple and complex gastroschisis. ( 28615305 )
2017
23
Infectious outcomes of gastroschisis patients with intraoperative hypothermia. ( 28688668 )
2017
24
Surgery Requiring Detailed Preoperative Simulation and Scar De-epithelialization to Repair Severe Postoperative Scarring from Gastroschisis. ( 28728331 )
2017
25
Omphalocele and Gastroschisis in Newborns: Over 16 Years of Experience from a Single Clinic. ( 28770124 )
2017
26
Contemporary Outcomes of Infants with Gastroschisis in North America: A Multicenter Cohort Study. ( 28712519 )
2017
27
Decreasing prevalence and time trend of gastroschisis in 14 cities of Liaoning Province: 2006-2015. ( 27623985 )
2016
28
Gastroschisis in a fetus with a congenital neuroblastoma: Association or coincidence? ( 26875914 )
2016
29
Maternal Antibodies to Herpes Virus Antigens and Risk of Gastroschisis in Offspring. ( 27856447 )
2016
30
Gastroschisis with gastric perforation and jejunal stenosis. A rare association of anomalies. ( 26996209 )
2016
31
Gastroschisis: Bellwether for neonatal surgery capacity in low resource settings? ( 27032610 )
2016
32
Oligohydramnios and growth restriction do not portend worse prognosis in gastroschisis pregnancies. ( 26932657 )
2016
33
Correction: Prevalence of Gastroschisis, Omphalocele, Spina Bifida and Orofacial Clefts of Neonates from January 2000 to December 2010 in Leipzig, Saxony, Saxony-Anhalt and Germany. ( 27533496 )
2016
34
Quality of life in patients with gastroschisis is comparable with the general population: A questionnaire survey. ( 27982137 )
2016
35
Gastroschisis with gastric perforation and jejunal stenosis A rare association of anomalies. ( 27345767 )
2016
36
Flap versus fascial closure for gastroschisis: a systematic review and meta-analysis. ( 26970850 )
2016
37
Probiotic Administration in Infants With Gastroschisis: A Pilot Randomized Placebo-Controlled Trial. ( 27880742 )
2016
38
Gastroschisis in Uganda: Opportunities for improved survival. ( 27516176 )
2016
39
Gastroschisis: epidemiology and mode of delivery, 2005-2013. ( 27026476 )
2016
40
Mortality-related factors in gastroschisis - a Jamaican perspective. ( 27842958 )
2016
41
Management of gastroschisis. ( 26974976 )
2016
42
Geospatial clustering of gastroschisis in Poland: Data from the Polish Registry of Congenital Malformations (PRCM). ( 26988884 )
2016
43
Measuring self-reported quality of life in 8- to 11-year-old children born with gastroschisis: Is the KIDSCREEN questionnaire acceptable? ( 26931186 )
2016
44
Closed Gastroschisis with Vanished Small Bowel and Jejunal Atresia. ( 27896173 )
2016
45
Closed gastroschisis, vanishing midgut and extreme short bowel syndrome: Case report and review of the literature. ( 27867410 )
2016
46
Assessing quality of life in pediatric gastroschisis patients using the Pediatric Quality of Life Inventory survey: An institutional study. ( 26932251 )
2016
47
Gene variants as risk factors for gastroschisis. ( 27616475 )
2016
48
Babies born with gastroschisis and followed up to the age of six years faced long-term morbidity and impairments. ( 26910581 )
2016
49
Outcome of isolated gastroschisis; an international study, systematic review and meta-analysis. ( 27825040 )
2016
50
Neurodevelopment and Health-Related Quality of Life in Infants Born with Gastroschisis: A 6-Year Retrospective French Study. ( 27931048 )
2016

Variations for Gastroschisis

Expression for Gastroschisis

Search GEO for disease gene expression data for Gastroschisis.

Pathways for Gastroschisis

GO Terms for Gastroschisis

Sources for Gastroschisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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