MCID: GST009
MIFTS: 64

Gastroschisis malady

Rare diseases, Gastrointestinal diseases, Fetal diseases categories

Summaries for Gastroschisis

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Wikipedia:65 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 ischemia, 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.

Aliases & Classifications for Gastroschisis

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Sources:
10Disease Ontology, 43NIH Rare Diseases, 12DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 29ICD9CM, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Gastroschisis, Aliases & Descriptions:

Name: Gastroschisis 10 43 12 45 49 62
Congenital Fissure of the Abdominal Cavity 43 62
 
Laparoschisis 49


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 Ontology10 DOID:11044
NCIt40 C84725
MeSH35 D020139
ICD9CM29 756.73
Orphanet49 2368
SNOMED-CT57 72951007
MESH via Orphanet36 D020139
ICD10 via Orphanet28 Q79.3
UMLS via Orphanet63 C0265706
ICD1027 Q79.3

Related Diseases for Gastroschisis

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

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1omphalocele31.5AFP, ACHE
2ischemia30.1ICAM1, MPO, CST3, NOS1, NOS3
3anencephaly29.9AFP, ACHE, MTHFR
4neural tube defects29.9ACHE, AFP, MTHFR
5liver disease29.9F5, F2, IL6, ICAM1
6intestinal atresia10.5
7abdominal wall defect10.5
8congenital diaphragmatic hernia10.2
9short bowel syndrome10.2
10esophagitis10.2
11chylous ascites10.2
12colonic atresia10.2
13laparoschisis10.2
14cryptorchidism10.1
15craniosynostosis10.1
16neuronitis10.1
17gastric dilatation10.1
18oligohydramnios10.1
19hanhart syndrome10.1
20iniencephaly10.1
21limb-body wall complex10.1
22medeira-dennis-donnai syndrome10.1
23pre-eclampsia10.1AFP
24mitral valve disease10.1NPPA
25branch retinal artery occlusion10.1F5
26factor xiii deficiency10.1F5
27sick sinus syndrome10.1NPPA
28factor xii deficiency10.1F5
29factor viii deficiency10.1F5
30poems syndrome10.0IL6
31polyarteritis nodosa10.0MPO
32achalasia10.0ACHE, NOS1
33congenital nephrotic syndrome finnish type10.0ACHE, AFP
34hemophilia b10.0F2
35pure autonomic failure10.0ACHE, NPPA
36hepatorenal syndrome10.0F2, NPPA
37acute respiratory distress syndrome10.0SLPI, CST3
38rapidly progressive glomerulonephritis10.0ICAM1, MPO
39vitamin k deficiency hemorrhagic disease10.0F2, AFP
40stroke, ischemic10.0F5, F2
41henoch-schoenlein purpura10.0MPO, ICAM1
42acute chest syndrome10.0NOS3
43hypoprothrombinemia10.0F2, F5
44factor x deficiency10.0F5, F2
45leukostasis10.0MPO, ICAM1
46vascular disease10.0IL6, NOS1
47factor v deficiency10.0F2, F5
48huntington disease10.0ACHE, ADD1, NOS1
49factor xi deficiency, autosomal recessive10.0F5, F2
50dysfibrinogenemia10.0F2, F5

Graphical network of the top 20 diseases related to Gastroschisis:



Diseases related to gastroschisis

Symptoms for Gastroschisis

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Symptoms:

 49
  • 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:

33
Small intestine, Liver, Colon, Skin, Brain, Heart, Smooth muscle, Kidney, Placenta, Testis

Animal Models for Gastroschisis or affiliated genes

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MGI Mouse Phenotypes related to Gastroschisis:

37 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.4AEBP1, ACHE, IL6, NOS1, NOS3
2MP:00053918.1ICAM1, MTHFR, ACHE, IL6, NOS1, NOS3
3MP:00053898.1F2, AFP, MTHFR, ACHE, BMP6, NOS1
4MP:00053698.1MPO, ICAM1, ACHE, IL6, CST3, NOS1
5MP:00107717.9F5, IL6, MTHFR, ICAM1, AEBP1, F2
6MP:00053817.8F2, AEBP1, ICAM1, IL6, BMP1, NOS1
7MP:00053907.7F2, HOXB5, MTHFR, IL6, BMP1, BMP6
8MP:00053797.6AEBP1, AFP, ICAM1, IL6, NOS1, NOS3
9MP:00053857.4F2, MPO, ICAM1, IL6, BMP1, CST3
10MP:00036317.1ICAM1, ADD1, HOXB5, F2, MTHFR, ACHE
11MP:00053976.9ICAM1, ADD1, MPO, F2, ACHE, IL6
12MP:00053786.2F2, AEBP1, ADD1, ICAM1, MTHFR, ACHE
13MP:00107685.4ICAM1, ADD1, MPO, AFP, AEBP1, F2
14MP:00053765.1SLPI, F2, AEBP1, AFP, MPO, ADD1

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/GeneDecks:

(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 apoptosis38
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 events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
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 pathway38
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/GeneDecks:

(show top 50)    (show all 221)
idCompoundScoreTop Affiliating Genes
1bivalirudin45 1310.6F5, F2, MPO
2allopurinol45 51 1311.5MPO, NOS3, NOS1, ICAM1
3apocynin45 6110.5NOS3, MPO, NOS1, ICAM1
4kininogen459.4F2, CST3, F5, NPPA, MPO
5vitamin b12459.3AFP, MTHFR, MPO, F5, CST3
68-isoprostane459.2NOS3, IL6, MPO, ICAM1
7dextran sulfate459.1IL6, ICAM1, MPO, F5
8taurine chloramine459.1IL6, F5, MPO
9homocysteine45 2610.1F2, CST3, F5, MTHFR, NOS3
10cyclophosphamide45 51 1311.0NOS3, MTHFR, F5, AFP, MPO
11methacholine45 51 1311.0NOS1, SLPI, MPO, ICAM1
12pentoxifylline45 139.9MPO, BMP6, IL6, ICAM1
13folate458.9AFP, CST3, F5, NOS1, NOS3, MTHFR
14pravastatin45 51 30 26 1312.8MTHFR, NOS3, ICAM1, NOS1, IL6
15uric acid45 269.7F5, CST3, AFP, MTHFR, SLPI
16prostacyclin458.7ICAM1, BMP6, NPPA, NOS3, F5
17aprotinin45 139.6CST3, IL6, F5, SLPI, F2
18atorvastatin45 51 30 26 1312.6ICAM1, BMP6, IL6, F5, NOS3
19epinephrine45 26 1310.6F5, NPPA, IL6, AFP, F2, BMP6
20carbachol45 30 1310.5BMP6, NOS3, NOS1, ACHE, SLPI
21aspirin45 51 30 2611.3NOS3, F5, F2, BMP6, MTHFR
22fluvastatin45 51 30 1311.3SLPI, NOS3, ICAM1, IL6
23polyethylene glycol458.3CST3, AFP, MPO, ICAM1, BMP6, F5
24hyaluronic acid45 269.2ICAM1, IL6, SLPI, F2, BMP6
25endotoxin458.1BMP6, F5, IL6, ICAM1, SLPI
26glutamate458.1F5, NOS3, BMP1, ACHE, AFP, MTHFR
27tamoxifen45 51 30 1311.1SLPI, NOS3, F2, BMP6, F5, NOS1
28simvastatin45 51 61 30 26 1313.1IL6, F2, ICAM1, AFP, NOS3, F5
29histamine45 30 2610.0BMP6, MPO, NOS1, SLPI, ICAM1, IL6
30ascorbic acid45 269.0F5, NOS1, ICAM1, NOS3, SLPI, MPO
31cisplatin45 51 61 1310.9CST3, MTHFR, MPO, SLPI, AFP, BMP6
32cholesterol45 30 26 1310.9ADD1, MTHFR, IL6, CST3, F5, SLPI
33methotrexate51 45 139.9IL6, BMP6, CST3, NOS1, NOS3, AFP
34testosterone45 61 26 1310.8MTHFR, AFP, SLPI, F5, NPPA, NOS1
35pge2457.8IL6, SLPI, MPO, NPPA, NOS1, BMP6
36vitamin d457.8AFP, MTHFR, IL6, BMP6, SLPI, NOS3
37heparin45 30 26 1310.7BMP1, BMP6, MTHFR, F2, SLPI, F5
38dexamethasone45 51 30 1310.6AFP, ICAM1, IL6, BMP6, CST3, NOS1
39fibrinogen457.6MTHFR, AFP, F2, ICAM1, IL6, CST3
40aspartate457.5MTHFR, F2, AFP, BMP1, BMP6, CST3
41calcium45 51 26 1310.3NOS3, NOS1, NPPA, SLPI, AFP, F5
42lactate457.2F5, SLPI, CST3, BMP6, IL6, MPO
43cyclosporin a45 30 619.2NPPA, F2, ICAM1, MTHFR, NOS1, IL6
44alanine456.9F2, AFP, BMP1, BMP6, CST3, F5
45nitric oxide45 26 138.8IL6, BMP6, MPO, ADD1, NOS1, F5
46estrogen456.6BMP6, IL6, MTHFR, AFP, SLPI, NPPA
47creatinine456.6SLPI, F2, AFP, IL6, NPPA, NOS1
48retinoic acid45 267.6IL6, MTHFR, SLPI, ICAM1, MPO, F5
49vegf456.5SLPI, AFP, NOS1, NOS3, NPPA, F5
50serine456.3CST3, SLPI, NOS1, F5, NOS3, BMP6

GO Terms for genes affiliated with Gastroschisis

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Cellular components related to Gastroschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane-bounded vesicleGO:00319889.7BMP6, BMP1
2extracellular regionGO:00055768.0F2, ACHE, IL6, BMP1, CST3, F5
3extracellular spaceGO:00056156.2NPPA, F2, AEBP1, AFP, MPO, ICAM1

Biological processes related to Gastroschisis according to GeneCards/GeneDecks:

(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/GeneDecks:

(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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet