MCID: GST009
MIFTS: 47

Gastroschisis malady

Categories: Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Gastroschisis

Aliases & Descriptions for Gastroschisis:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:11044
ICD10 33 Q79.3
ICD9CM 35 756.73
MeSH 42 D020139
NCIt 47 C84725
SNOMED-CT 64 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 congenital fissure of the abdominal cavity, is related to gastroschisis abdominal wall defects, included and abdominal wall defect, and has symptoms including intestinal atresia and abnormality of mesentery morphology. An important gene associated with Gastroschisis is AEBP1 (AE Binding Protein 1), and among its related pathways/superpathways are GPCR Pathway and Degradation of the extracellular matrix. The drugs Dopamine and Metoclopramide have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and small intestine, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 71 Gastroschisis represents a congenital defect characterised by a defect in the anterior abdominal wall... more...

Related Diseases for Gastroschisis

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

(show top 50) (show all 93)
id Related Disease Score Top Affiliating Genes
1 gastroschisis abdominal wall defects, included 12.3
2 abdominal wall defect 11.8
3 paraomphalocele 10.8
4 omphalocele 10.6
5 intestinal atresia 10.1
6 leber congenital amaurosis 10.1 MMP1 TGFB3
7 birth defects 10.1
8 acquired thrombocytopenia 10.1 IL6 MMP1
9 mosaic variegated aneuploidy syndrome 2 10.0 MMP1 MMP8
10 hereditary night blindness 10.0 IL6 MMP1
11 chronic diarrhea due to guanylate cyclase 2c overactivity 10.0 MMP1 MMP8
12 leukoplakia of vagina 10.0 IL6 MMP8
13 peripheral vascular disease 10.0 MMP1 MMP8
14 kidney leiomyosarcoma 10.0 IL6 MMP3
15 symmastia 10.0 MMP1 MMP3
16 kleptomania 10.0 MMP1 MMP3
17 cystic lymphangioma 10.0 MMP1 MMP3
18 angiomyoma 9.9 MMP1 MMP3
19 vitreoretinopathy, neovascular inflammatory 9.9 IL6 MMP1 MMP8
20 autosomal recessive type iv ehlers-danlos syndrome 9.9 IL6 MMP1 MMP8
21 cholera 9.9 IL6 MMP1 MMP8
22 fecal incontinence 9.9 MMP1 MMP3
23 idiopathic corneal edema 9.9 MMP1 MMP3
24 intratubular embryonal carcinoma 9.9 IL6 MMP1 MMP8
25 keratoconus 9.9 IL6 MMP3
26 congenital diaphragmatic hernia 9.9
27 pythiosis 9.9 ACHE NPPA
28 carotenemia 9.8 IL6 MMP1 MMP3
29 germ cell and embryonal cancer 9.8 IL6 MMP1 MMP3
30 short bowel syndrome 9.8
31 synovium cancer 9.8 IL6 MMP1 MMP3
32 bone angioendothelial sarcoma 9.8 IL6 MMP1 MMP3
33 osteonecrosis 9.8 IL6 MMP1 MMP3
34 zika fever 9.8 MMP1 MMP3
35 kashin-beck disease 9.8 ACHE MMP1 MMP3
36 oligohydramnios 9.8
37 jejunal atresia 9.8
38 esophagitis 9.8
39 autistic disorder 9.7 IL6 MMP1 MMP3
40 myocardial infarction 9.7 ADD1 IL6 MMP3 NPPA
41 orofacial cleft 9.7
42 neuronitis 9.7
43 neural tube defects 9.7
44 prune belly syndrome 9.7
45 cryptorchidism 9.7
46 cloacal exstrophy 9.7
47 gastric dilatation 9.7
48 colonic atresia 9.7
49 ischemia 9.7
50 craniosynostosis 9.7

Graphical network of the top 20 diseases related to Gastroschisis:



Diseases related to Gastroschisis

Symptoms & Phenotypes for Gastroschisis

Human phenotypes related to Gastroschisis:

32
id Description HPO Frequency HPO Source Accession
1 intestinal atresia 32 HP:0011100
2 gastroschisis 32 HP:0001543
3 abnormality of mesentery morphology 32 HP:0100016

MGI Mouse Phenotypes related to Gastroschisis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.5 ACHE ADD1 BMP1 IL6 MMP3 NPPA
2 homeostasis/metabolism MP:0005376 9.32 ACHE ADD1 AEBP1 BMP1 IL6 MMP1

Drugs & Therapeutics for Gastroschisis

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

(show all 31)
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 Micronutrients
28 Trace Elements
29 Vitamins
30 Bifidobacterium Nutraceutical
31 lysine Nutraceutical

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Trial of AMNIOECHANGE in Gastroschisis Affected Foetuses Unknown status NCT00127946 Phase 3
2 Metoclopramide Pilot Trial Recruiting NCT02098915 Phase 3
3 Randomized Clinical Trial of Early Delivery in Fetal Gastroschisis vs. Routine Care Active, not recruiting NCT01884324 Phase 2, Phase 3
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
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
7 Sutureless vs Sutured Gastroschisis Closure Unknown status NCT01094587
8 Music Therapy: An Adjunct To Gastroschisis Infants' Care Unknown status NCT01469208
9 Probiotics in Infants With Gastroschisis Unknown status NCT01316510
10 Elemental Formula in Neonates Post Small Bowel Resection: Improved Weaning From Total Parenteral Nutrition? Unknown status NCT01891279
11 PREMAPIV : Intravesical Pressure Variation at Different Bladder Instillation Volumes in Newborn Children Completed NCT01296724
12 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
13 Silo Versus Primary Closure for Gastroschisis Recruiting NCT01506531
14 Clinical and Biological Outcomes of Human Milk and Formula Intake After Gastroschisis Repair Recruiting NCT02575846
15 Gastroschisis Outcomes of Delivery (GOOD) Study Not yet recruiting NCT02774746
16 Bedside Silo Versus Operative Closure for Gastroschisis Terminated NCT00404690
17 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
Skin, Liver, Small Intestine, Colon, Smooth Muscle, Heart, Testis

Publications for Gastroschisis

Articles related to Gastroschisis:

(show top 50) (show all 722)
id Title Authors Year
1
Newborn with Gastroschisis associated with Limb Anomalies. ( 28083494 )
2017
2
Chylous Ascites in a Newborn with Gastroschisis. Case Report. ( 28083502 )
2017
3
Maternal Stressors and Social Support and Risks of Delivering Babies With Gastroschisis or Hypospadias. ( 28505275 )
2017
4
Not gastroschisis or omphalocele or anything in between: a novel congenital abdominal wall defect. ( 28271155 )
2017
5
Transamniotic stem cell therapy (TRASCET) in a leporine model of gastroschisis. ( 27836365 )
2017
6
Umbilical hernia following gastroschisis closure: a common event? ( 27344584 )
2016
7
Outcome of isolated gastroschisis; an international study, systematic review and meta-analysis. ( 27825040 )
2016
8
Neurodevelopment and Health-Related Quality of Life in Infants Born with Gastroschisis: A 6-Year Retrospective French Study. ( 27931048 )
2016
9
Relationship between neonatal gastroschisis and maternal body mass index in a United Kingdom population. ( 28088673 )
2016
10
Spatial variability of gastroschisis in Canada, 2006-2011: An exploratory analysis. ( 27348112 )
2016
11
Management of gastroschisis. ( 26974976 )
2016
12
Oligohydramnios and growth restriction do not portend worse prognosis in gastroschisis pregnancies. ( 26932657 )
2016
13
Fetal gastroschisis: antepartum fetal heart rate analysis by computerized cardiotocography. ( 27180816 )
2016
14
Gastroschisis: A Review of Management and Outcomes. ( 27640608 )
2016
15
Gastroschisis: mortality risks with each additional week of expectant management. ( 27596619 )
2016
16
Improved outcomes for inborn babies with uncomplicated gastroschisis. ( 28017414 )
2016
17
Gastroschisis: Bellwether for neonatal surgery capacity in low resource settings? ( 27032610 )
2016
18
Variability of outcome reporting in Hirschsprung's Disease and gastroschisis: a systematic review. ( 27941923 )
2016
19
Assessing quality of life in pediatric gastroschisis patients using the Pediatric Quality of Life Inventory survey: An institutional study. ( 26932251 )
2016
20
Gene variants as risk factors for gastroschisis. ( 27616475 )
2016
21
Quality of life in patients with gastroschisis is comparable with the general population: A questionnaire survey. ( 27982137 )
2016
22
Gastroschisis: epidemiology and mode of delivery, 2005-2013. ( 27026476 )
2016
23
Gastroschisis with gastric perforation and jejunal stenosis. A rare association of anomalies. ( 26996209 )
2016
24
Closed gastroschisis, vanishing midgut and extreme short bowel syndrome: Case report and review of the literature. ( 27867410 )
2016
25
Geospatial clustering of gastroschisis in Poland: Data from the Polish Registry of Congenital Malformations (PRCM). ( 26988884 )
2016
26
Gastroschisis in Uganda: Opportunities for improved survival. ( 27516176 )
2016
27
Is there a relationship between hospital volume and patient outcomes in gastroschisis repair? ( 27139881 )
2016
28
Management and outcome challenges in newborns with gastroschisis: A 6-year retrospective French study. ( 27892784 )
2016
29
Gastroschisis outcomes in North America: a comparison of Canada and the United States. ( 27004440 )
2016
30
Gastroschisis and maternal intake of phytoestrogens. ( 27232448 )
2016
31
Mortality-related factors in gastroschisis - a Jamaican perspective. ( 27842958 )
2016
32
The Influence of Infectious Complications in Gastroschisis on Costs and Length of Stay. ( 27240097 )
2016
33
The epidemiology, prevalence and hospital outcomes of infants with gastroschisis. ( 27388940 )
2016
34
Intra-Amniotic Hemorrhage Imitating Gastroschisis: A Case Report and Review of the Literature. ( 27760979 )
2016
35
Gastroschisis in a fetus with a congenital neuroblastoma: Association or coincidence? ( 26875914 )
2016
36
Gastroschisis with Concomitant Jejuno-Ileal Atresia Complicated by Jejunal Perforation. ( 27123409 )
2016
37
Folic acid fortification and prevalences of neural tube defects, orofacial clefts, and gastroschisis in California, 1989 to 2010. ( 27191125 )
2016
38
Response to Letter to the Editor Regarding "Probiotic Administration in Infants with Gastroschisis: a Pilot Randomized Placebo-controlled Trial". ( 27579695 )
2016
39
Maternal Antibodies to Herpes Virus Antigens and Risk of Gastroschisis in Offspring. ( 27856447 )
2016
40
Flap versus fascial closure for gastroschisis: a systematic review and meta-analysis. ( 26970850 )
2016
41
Babies born with gastroschisis and followed up to the age of six years faced long-term morbidity and impairments. ( 26910581 )
2016
42
What prenatal ultrasound features are predictable of complex or vanishing gastroschisis? A retrospective study. ( 27981591 )
2016
43
Heightened Immune Activation in Fetuses with Gastroschisis May Be Blocked by Targeting IL-5. ( 27183609 )
2016
44
Accuracy of antenatal ultrasound signs in predicting the risk for bowel atresia in patients with gastroschisis. ( 27280540 )
2016
45
Development of a core outcome set for use in determining the overall success of gastroschisis treatment. ( 27465672 )
2016
46
Measuring self-reported quality of life in 8- to 11-year-old children born with gastroschisis: Is the KIDSCREEN questionnaire acceptable? ( 26931186 )
2016
47
Outcome reporting in randomized controlled trials and systematic reviews of gastroschisis treatment: a systematic review. ( 27312236 )
2016
48
Effect of gestational age at birth on neonatal outcomes in gastroschisis. ( 26932253 )
2016
49
Closed Gastroschisis with Vanished Small Bowel and Jejunal Atresia. ( 27896173 )
2016
50
Gastroschisis Complicated by Septo-Optic Dysplasia: Two Distinct Anomalies with a Common Origin. ( 26929863 )
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 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 BMP1 IL6 MMP1 MMP3 MMP8 TGFB3
2
Show member pathways
12.01 BMP1 MMP1 MMP3 MMP8 TGFB3
3
Show member pathways
11.97 IL6 MMP1 MMP3
4 11.8 IL6 MMP1 TGFB3
5 11.55 IL6 MMP1 MMP3
6
Show member pathways
11.43 MMP1 MMP3 MMP8
7 11.26 IL6 MMP1
8 11.23 IL6 TGFB3
9 11.21 IL6 TGFB3
10
Show member pathways
11.13 IL6 MMP1 MMP3
11 11.09 MMP1 MMP3
12 11.01 IL6 MMP1
13 10.88 IL6 MMP1 MMP3 TGFB3
14 10.84 BMP1 IL6 TGFB3
15 10.54 IL6 TGFB3

GO Terms for Gastroschisis

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 ACHE AEBP1 BMP1 IL6 MMP1 MMP3
2 proteinaceous extracellular matrix GO:0005578 9.56 BMP1 MMP1 MMP3 MMP8
3 extracellular matrix GO:0031012 9.55 AEBP1 MMP1 MMP3 MMP8 TGFB3
4 extracellular space GO:0005615 9.23 ACHE AEBP1 BMP1 IL6 MMP3 MMP8

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

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.55 AEBP1 BMP1 MMP1 MMP3 MMP8
2 cellular protein metabolic process GO:0044267 9.5 IL6 MMP1 NPPA
3 positive regulation of DNA replication GO:0045740 9.4 IL6 TGFB3
4 positive regulation of protein secretion GO:0050714 9.37 ACHE TGFB3
5 positive regulation of protein oligomerization GO:0032461 9.26 MMP1 MMP3
6 collagen catabolic process GO:0030574 9.13 MMP1 MMP3 MMP8
7 extracellular matrix disassembly GO:0022617 8.92 BMP1 MMP1 MMP3 MMP8

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

id Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.77 AEBP1 BMP1 MMP1 MMP3 MMP8
2 calcium ion binding GO:0005509 9.73 BMP1 MMP1 MMP3 MMP8
3 peptidase activity GO:0008233 9.62 BMP1 MMP1 MMP3 MMP8
4 cytokine activity GO:0005125 9.58 BMP1 IL6 TGFB3
5 serine-type endopeptidase activity GO:0004252 9.46 BMP1 MMP1 MMP3 MMP8
6 growth factor activity GO:0008083 9.43 BMP1 IL6 TGFB3
7 metallopeptidase activity GO:0008237 9.26 BMP1 MMP1 MMP3 MMP8
8 metalloendopeptidase activity GO:0004222 8.92 BMP1 MMP1 MMP3 MMP8

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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