MCID: GST009
MIFTS: 55

Gastroschisis malady

Rare diseases, Gastrointestinal diseases, Fetal diseases categories

Aliases & Classifications for Gastroschisis

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Gastroschisis, Aliases & Descriptions:

Name: Gastroschisis 9 41 11 43 47 60
Congenital Fissure of the Abdominal Cavity 41
 
Laparoschisis 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Gastrointestinal diseases


Characteristics (Orphanet epidemiological data):

47
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


External Ids:

Disease Ontology9 DOID:11044
NCIt38 C84725
MeSH33 D020139
ICD9CM27 756.73
Orphanet47 2368
SNOMED-CT55 72951007
MESH via Orphanet34 D020139
ICD10 via Orphanet26 Q79.3
UMLS via Orphanet61 C0265706
ICD1025 Q79.3

Summaries for Gastroschisis

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Wikipedia:63 Gastroschisis represents a congenital defect characterised by a defect in the anterior abdominal wall... more...

MalaCards based summary: Gastroschisis, also known as congenital fissure of the abdominal cavity, is related to omphalocele and anencephaly, and has symptoms including gastroschisis, abnormality of the mesentery and gastroschisis. An important gene associated with Gastroschisis is ACHE (acetylcholinesterase (Yt blood group)), and among its related pathways are LDL Oxidation in Atherogenesis and NO dependent CFTR activation normal and CF . The compounds bivalirudin and allopurinol have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and colon, and related mouse phenotypes are adipose tissue and vision/eye.

Related Diseases for Gastroschisis

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

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1omphalocele32.1AFP, ACHE
2anencephaly30.2AFP, ACHE, MTHFR
3neural tube defects30.2ACHE, AFP, MTHFR
4ischemia29.9ICAM1, MPO, CST3, NOS1, NOS3
5liver disease29.8F5, F2, IL6, ICAM1
6pre-eclampsia10.5AFP
7intestinal atresia10.5
8mitral valve disease10.5NPPA
9abdominal wall defect10.5
10branch retinal artery occlusion10.5F5
11sick sinus syndrome10.5NPPA
12factor xiii deficiency10.5F5
13factor xii deficiency10.5F5
14factor viii deficiency10.5F5
15poems syndrome10.4IL6
16polyarteritis nodosa10.4MPO
17achalasia10.4ACHE, NOS1
18congenital nephrotic syndrome finnish type10.4ACHE, AFP
19pure autonomic failure10.4ACHE, NPPA
20hemophilia b10.4F2
21hepatorenal syndrome10.4F2, NPPA
22acute respiratory distress syndrome10.4SLPI, CST3
23rapidly progressive glomerulonephritis10.4ICAM1, MPO
24vitamin k deficiency hemorrhagic disease10.4F2, AFP
25stroke, ischemic10.3F5, F2
26henoch-schoenlein purpura10.3MPO, ICAM1
27acute chest syndrome10.3NOS3
28hypoprothrombinemia10.3F2, F5
29factor x deficiency10.3F5, F2
30leukostasis10.3MPO, ICAM1
31vascular disease10.3IL6, NOS1
32factor v deficiency10.3F2, F5
33huntington disease10.3ACHE, ADD1, NOS1
34factor xi deficiency, autosomal recessive10.3F5, F2
35dysfibrinogenemia10.3F2, F5
36central retinal vein occlusion10.3F5, MTHFR
37atrial fibrillation10.3NPPA, ACHE, F2
38hemorrhagic disease10.3F2, F5
39homocysteinemia10.3MTHFR, F5
40scott syndrome10.3F2, F5
41von willebrand's disease10.3F5, F2
42placental abruption10.3F5, MTHFR
43nonarteritic anterior ischemic optic neuropathy10.3MTHFR, F5
44allergic rhinitis10.3MPO, ICAM1
45factor vii deficiency10.3F5, F2
46budd-chiari syndrome10.3MTHFR, F5
47hemophilia a10.3F5, F2
48vascular dementia10.3ACHE, MTHFR, CST3
49afibrinogenemia10.3F5, F2
50retinal vein occlusion10.3MTHFR, F5

Graphical network of the top 20 diseases related to Gastroschisis:



Diseases related to gastroschisis

Symptoms for Gastroschisis

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Symptoms:

 47
  • gastroschisis
  • intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum)
  • mesenterium anomaly/common mesentery/mesenteric adhesion

HPO human phenotypes related to Gastroschisis:

id Description Frequency HPO Source Accession
1 gastroschisis hallmark (90%) HP:0001543
2 abnormality of the mesentery occasional (7.5%) HP:0100016

Drugs & Therapeutics for Gastroschisis

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Drug clinical trials:

Search ClinicalTrials for Gastroschisis

Search NIH Clinical Center for Gastroschisis

Genetic Tests for Gastroschisis

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Anatomical Context for Gastroschisis

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MalaCards organs/tissues related to Gastroschisis:

31
Small intestine, Liver, Colon, Skin, Brain, Heart, Smooth muscle, Kidney, Placenta, Testis

Animal Models for Gastroschisis or affiliated genes

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Publications for Gastroschisis

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Articles related to Gastroschisis:

(show top 50)    (show all 632)
idTitleAuthorsYear
1
Isolated prenatal ultrasound findings predict the postnatal course in gastroschisis. (25697276)
2015
2
Prenatal examination and postmortem findings in fetuses with gastroschisis and omphalocele. (24604302)
2014
3
Anomalies associated with gastroschisis and omphalocele: analysis of 2825 cases from the Texas Birth Defects Registry. (24726103)
2014
4
Prevalence and risk factors for gastroschisis in a public hospital from west MAcxico. (25243388)
2014
5
Gastroschisis, omphalocele or something else? (23531629)
2014
6
Left-sided Gastroschisis: A Rare Congenital Anomaly. (24298510)
2013
7
Gastric contractility in experimental gastroschisis. (23414860)
2013
8
Human milk versus formula after gastroschisis repair: effects on time to full feeds and time to discharge. (23519369)
2013
9
Expectant management compared with elective delivery at 37 weeks for gastroschisis. (23635735)
2013
10
Gastroschisis, destructive brain lesions, and placental infarction in the second trimester suggest a vascular pathogenesis. (23895144)
2013
11
Corticosteroid effect upon intestinal and hepatic interleukin profile in a gastroschisis rat model. (23381817)
2013
12
Left-sided gastroschisis with placenta findings: case report and literature review. (22558479)
2012
13
Evolution of critically ill patients with gastroschisis from three tertiary centers. (21437430)
2011
14
Assessing the trend of gastroschisis prevalence in China from 1996 to 2007 using two analytical methods. (21308975)
2011
15
Ultrasound prediction of birthweight and growth restriction in fetal gastroschisis. (20723876)
2010
16
Changes in amniotic fluid index after maternal oral hydration in pregnancies with fetal gastroschisis: initial observations. (20606383)
2010
17
Evisceration and necrosis of gall bladder and evisceration of urinary bladder in a patient of gastroschisis. (20098013)
2010
18
Benchmarking the quality of care of infants with low-risk gastroschisis using a novel risk stratification index. (20236674)
2010
19
Perinatal demography of gastroschisis in North Queensland. (21166913)
2010
20
Gastroschisis and intrauterine growth restriction. (20362958)
2010
21
Mirror image left-sided gastroschisis. (20618216)
2010
22
Gastroschisis associated with an intra-abdominal umbilical vein varix: a report of 2 cases. (19786788)
2009
23
Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis. (19419415)
2009
24
Spontaneous sutureless closure of the abdominal wall defect in gastroschisis using a commercial wound retractor system. (19705131)
2009
25
Re: M. B. Forrester and R. D. Merz (2006), Comparison of trends in gastroschisis and prenatal illicit drug use rates. J. Toxicol. Environ. Health A 69:1253-1259. (18080905)
2008
26
Rare case of fetal gastroschisis with aplasia of the foot and external genital organs. (18778459)
2008
27
Anaesthetic management of gastroschisis - a review of our practice over the past 5 years. (18613932)
2008
28
Novel intra-operative pulse oximetry monitoring for gastroschisis: a noninvasive monitor of intra-abdominal pressure. (18315652)
2008
29
Fetal abdominal wall repair with a collagen biomatrix in an experimental sheep model for gastroschisis. (18636946)
2008
30
Scheduled preterm delivery for gastroschisis improves postoperative outcome. (18668252)
2008
31
Non-genetic risk factors for gastroschisis. (18655102)
2008
32
Outcomes in neonatal gastroschisis: an institutional experience. (17992713)
2007
33
Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome. (17694577)
2007
34
Outcomes of pregnancies with fetal gastroschisis. (17766615)
2007
35
Splanchnic perfusion pressure: a better predictor of safe primary closure than intraabdominal pressure in neonatal gastroschisis. (16677879)
2006
36
Does gastroschisis reduction require general anesthesia? A comparative analysis. (16818066)
2006
37
Erythropoietin restores bowel damage and hypoperistalsis in gastroschisis. (16481250)
2006
38
Primary fascial closure in 112 infants with gastroschisis. (16146253)
2005
39
A "plastic" sutureless abdominal wall closure in gastroschisis. (15137009)
2004
40
Fetal home monitoring for the prenatal management of gastroschisis. (15488122)
2004
41
Isolated gastroschisis in successive siblings: a case report and review of the literature. (15193205)
2004
42
Elective delayed midgut reduction-No anesthesia for gastroschisis: Selection and conversion criteria. (12194127)
2002
43
Unusual presentations of gastroschisis. (12206609)
2002
44
An unusual case of gastroschisis with gallbladder evisceration and late postrepair chylous ascites. (9434035)
1997
45
Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. (8533813)
1995
46
Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. (1481831)
1992
47
Abdominal wall defects: omphalocele and gastroschisis (continuing education credit). (2961975)
1987
48
Omphalocele, hernia of the umbilical cord and gastroschisis. (6232916)
1983
49
Congenital abdominal wall defects: gastroschisis and omphalocele. (6211335)
1982
50
Perinatal aspects of omphalocele and gastroschisis. (930890)
1977

Variations for Gastroschisis

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Expression for genes affiliated with Gastroschisis

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Search GEO for disease gene expression data for Gastroschisis.

Pathways for genes affiliated with Gastroschisis

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Pathways related to Gastroschisis according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ICAM1, MPO
29.8NOS1, NOS3
3
Show member pathways
Quercetin and Nf-kB/ AP-1 induced cell apoptosis36
9.8NOS3, NOS1
49.8NOS1, NOS3
5
Show member pathways
9.8NOS3, NOS1
6
Show member pathways
9.6F2, BMP1, F5
79.3IL6, ICAM1, MPO
89.3ICAM1, IL6, NOS1
99.3AFP, IL6, ICAM1
109.2IL6, NOS3, NPPA
11
Show member pathways
9.1NOS3, F2, F5, NOS1
12
Show member pathways
9.0NOS3, BMP1, BMP6, NOS1
13
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway58
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB58
Development Angiopoietin Tie2 signaling58
8.9MPO, NOS3, IL6, F2
14
Show member pathways
8.9IL6, BMP6, F2, BMP1
15
Show member pathways
8.8IL6, BMP1, BMP6, NOS3
16
Show member pathways
thioredoxin pathway36
8.6F2, MPO, ICAM1, MTHFR, IL6
17
Show member pathways
8.5NOS3, IL6, BMP1, BMP6, ADD1
18
Show member pathways
8.2NOS1, F2, IL6, BMP1, BMP6, NOS3

Compounds for genes affiliated with Gastroschisis

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Compounds related to Gastroschisis according to GeneCards Suite gene sharing:

(show top 50)    (show all 221)
idCompoundScoreTop Affiliating Genes
1bivalirudin43 1210.6F5, F2, MPO
2allopurinol43 49 1211.5MPO, NOS3, NOS1, ICAM1
3apocynin43 5910.5NOS3, MPO, NOS1, ICAM1
4kininogen439.4F2, CST3, F5, NPPA, MPO
5vitamin b12439.3AFP, MTHFR, MPO, F5, CST3
68-isoprostane439.2NOS3, IL6, MPO, ICAM1
7dextran sulfate439.1IL6, ICAM1, MPO, F5
8taurine chloramine439.1IL6, F5, MPO
9homocysteine43 2410.1F2, CST3, F5, MTHFR, NOS3
10cyclophosphamide43 49 1211.0NOS3, MTHFR, F5, AFP, MPO
11methacholine43 49 1211.0NOS1, SLPI, MPO, ICAM1
12pentoxifylline43 129.9MPO, BMP6, IL6, ICAM1
13folate438.9AFP, CST3, F5, NOS1, NOS3, MTHFR
14pravastatin43 49 28 24 1212.8MTHFR, NOS3, ICAM1, NOS1, IL6
15uric acid43 249.7F5, CST3, AFP, MTHFR, SLPI
16prostacyclin438.7ICAM1, BMP6, NPPA, NOS3, F5
17aprotinin43 129.6CST3, IL6, F5, SLPI, F2
18atorvastatin43 49 28 24 1212.6ICAM1, BMP6, IL6, F5, NOS3
19epinephrine43 24 1210.6F5, NPPA, IL6, AFP, F2, BMP6
20carbachol43 28 1210.5BMP6, NOS3, NOS1, ACHE, SLPI
21aspirin43 49 28 2411.3NOS3, F5, F2, BMP6, MTHFR
22fluvastatin43 49 28 1211.3SLPI, NOS3, ICAM1, IL6
23polyethylene glycol438.3CST3, AFP, MPO, ICAM1, BMP6, F5
24hyaluronic acid43 249.2ICAM1, IL6, SLPI, F2, BMP6
25endotoxin438.1BMP6, F5, IL6, ICAM1, SLPI
26glutamate438.1F5, NOS3, BMP1, ACHE, AFP, MTHFR
27tamoxifen43 49 28 1211.1SLPI, NOS3, F2, BMP6, F5, NOS1
28simvastatin43 49 59 28 24 1213.1IL6, F2, ICAM1, AFP, NOS3, F5
29histamine43 28 2410.0BMP6, MPO, NOS1, SLPI, ICAM1, IL6
30ascorbic acid43 249.0F5, NOS1, ICAM1, NOS3, SLPI, MPO
31cisplatin43 49 59 1210.9CST3, MTHFR, MPO, SLPI, AFP, BMP6
32cholesterol43 28 24 1210.9ADD1, MTHFR, IL6, CST3, F5, SLPI
33methotrexate49 43 129.9IL6, BMP6, CST3, NOS1, NOS3, AFP
34testosterone43 59 24 1210.8MTHFR, AFP, SLPI, F5, NPPA, NOS1
35pge2437.8IL6, SLPI, MPO, NPPA, NOS1, BMP6
36vitamin d437.8AFP, MTHFR, IL6, BMP6, SLPI, NOS3
37heparin43 28 24 1210.7BMP1, BMP6, MTHFR, F2, SLPI, F5
38dexamethasone43 49 28 1210.6AFP, ICAM1, IL6, BMP6, CST3, NOS1
39fibrinogen437.6MTHFR, AFP, F2, ICAM1, IL6, CST3
40aspartate437.5MTHFR, F2, AFP, BMP1, BMP6, CST3
41calcium43 49 24 1210.3NOS3, NOS1, NPPA, SLPI, AFP, F5
42lactate437.2F5, SLPI, CST3, BMP6, IL6, MPO
43cyclosporin a43 28 599.2NPPA, F2, ICAM1, MTHFR, NOS1, IL6
44alanine436.9F2, AFP, BMP1, BMP6, CST3, F5
45nitric oxide43 24 128.8IL6, BMP6, MPO, ADD1, NOS1, F5
46estrogen436.6BMP6, IL6, MTHFR, AFP, SLPI, NPPA
47creatinine436.6SLPI, F2, AFP, IL6, NPPA, NOS1
48retinoic acid43 247.6IL6, MTHFR, SLPI, ICAM1, MPO, F5
49vegf436.5SLPI, AFP, NOS1, NOS3, NPPA, F5
50serine436.3CST3, SLPI, NOS1, F5, NOS3, BMP6

GO Terms for genes affiliated with Gastroschisis

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

idNameGO IDScoreTop Affiliating Genes
1membrane-bounded vesicleGO:00319889.7BMP6, BMP1
2extracellular regionGO:00055768.0NPPA, F2, ACHE, IL6, BMP1, CST3
3extracellular spaceGO:00056156.2BMP6, IL6, CST3, F5, NPPA, ACHE

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1neurotransmitter biosynthetic processGO:004213610.2NOS1, ACHE
2negative regulation of hydrolase activityGO:005134610.1NOS3, NOS1
3positive regulation of guanylate cyclase activityGO:003128410.1NOS1, NOS3
4arginine catabolic processGO:000652710.0NOS1, NOS3
5negative regulation of potassium ion transportGO:004326710.0NOS3, NOS1
6ovulation from ovarian follicleGO:000154210.0AFP, NOS3
7negative regulation of platelet activationGO:001054410.0F2, NOS3
8nitric oxide biosynthetic processGO:000680910.0NOS3, NOS1
9regulation of blood vessel sizeGO:00508809.9NOS3, NPPA
10negative regulation of calcium ion transportGO:00519269.9NOS3, ICAM1
11nitric oxide mediated signal transductionGO:00072639.8NOS3, NOS1
12SMAD protein signal transductionGO:00603959.7AFP, BMP6
13response to heatGO:00094089.6NOS3, NOS1, IL6
14response to hypoxiaGO:00016669.5NPPA, NOS1, MTHFR
15regulation of cell shapeGO:00083609.5F2, ICAM1, IL6
16skeletal system developmentGO:00015019.2BMP6, BMP1, AEBP1
17cell adhesionGO:00071558.8AEBP1, ICAM1, ACHE, F5
18blood coagulationGO:00075968.8NOS3, NOS1, F5, F2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1nitric-oxide synthase activityGO:000451710.0NOS3, NOS1
2arginine bindingGO:00346189.9NOS1, NOS3
3tetrahydrobiopterin bindingGO:00346179.9NOS1, NOS3
4cadmium ion bindingGO:00468709.8NOS3, NOS1
5NADPH-hemoprotein reductase activityGO:00039589.8NOS1, NOS3
6FMN bindingGO:00101819.7NOS3, NOS1
7NADP bindingGO:00506619.6NOS3, NOS1, MTHFR
8flavin adenine dinucleotide bindingGO:00506609.5NOS3, NOS1, MTHFR
9cytokine activityGO:00051259.2BMP6, BMP1, IL6
10heme bindingGO:00200379.2NOS3, NOS1, MPO
11growth factor activityGO:00080839.1BMP6, BMP1, IL6, F2
12calmodulin bindingGO:00055169.1AEBP1, ADD1, NOS1, NOS3

Products for genes affiliated with Gastroschisis

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Sources for Gastroschisis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet