MCID: GST009
MIFTS: 66

Gastroschisis malady

Rare diseases, Gastrointestinal diseases, Fetal diseases categories
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Summaries for Gastroschisis

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Gastroschisis represents a congenital defect characterized by a defect in the anterior abdominal wall... more...

MalaCards: Gastroschisis, also known as congenital fissure of the abdominal cavity, is related to omphalocele and anencephaly, and has symptoms including mesenterium anomaly/common mesentery/mesenteric adhesion, intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum) 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 skin, and related mouse phenotypes are adipose tissue and vision/eye.

Description from OMIM:47 230750

Aliases & Classifications for Gastroschisis

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 58SNOMED-CT, 35MeSH, 27ICD9CM, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
gastroschisis:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

gastroschisis 8 43 10 45 49 47 62
congenital fissure of the abdominal cavity 43
laparoschisis 49


External Ids:

Disease Ontology8 DOID:11044
OMIM47 230750
MeSH35 D020139
ICD9CM27 756.73
NCIt40 C84725
SNOMED-CT58 72951007
MESH via Orphanet36 D020139
ICD10 via Orphanet26 Q79.3
SNOMED-CT via Orphanet59 72951007
UMLS via Orphanet63 C0265706
ICD1025 Q79.3

Related Diseases for Gastroschisis

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17GeneCards, 18GeneDecks
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Diseases related to Gastroschisis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 172)
idRelated DiseaseScoreTop Affiliating Genes
1omphalocele31.6AFP, ACHE
2anencephaly29.9AFP, ACHE, MTHFR
3neural tube defects29.9ACHE, AFP, MTHFR
4hypertension29.8NPPA, NOS3, F5, MTHFR, ICAM1, CST3
5thromboembolism29.8MTHFR, F2, NOS3, F5
6ischemia29.8ICAM1, MPO, CST3, NOS1, NOS3
7intestinal atresia10.5
8abdominal wall defect10.5
9congenital diaphragmatic hernia10.2
10short bowel syndrome10.2
11chylous ascites10.2
12pre-eclampsia10.1AFP
13purpura fulminans10.1F5
14mitral valve disease10.1NPPA
15branch retinal artery occlusion10.1F5
16sick sinus syndrome10.1NPPA
17factor xii deficiency10.1F5
18poems syndrome10.1IL6
19polyarteritis nodosa10.1MPO
20achalasia10.1ACHE, NOS1
21congenital nephrotic syndrome finnish type10.1ACHE, AFP
22hemophilia b10.1F2
23pure autonomic failure10.1ACHE, NPPA
24hepatorenal syndrome10.1F2, NPPA
25adult respiratory distress syndrome10.1SLPI, CST3
26rapidly progressive glomerulonephritis10.1ICAM1, MPO
27vitamin k deficiency hemorrhagic disease10.1F2, AFP
28stroke, ischemic10.1F5, F2
29immunoglobulin a vasculitis10.1MPO, ICAM1
30acute chest syndrome10.1NOS3
31prothrombin deficiency10.1F2, F5
32factor x deficiency10.1F5, F2
33leukostasis10.1MPO, ICAM1
34vascular disease10.1IL6, NOS1
35factor v deficiency10.1F2, F5
36huntington's disease10.1ACHE, ADD1, NOS1
37factor xi deficiency10.1F5, F2
38dysfibrinogenemia10.1F2, F5
39central retinal vein occlusion10.1F5, MTHFR
40hemorrhagic disease10.1F2, F5
41homocysteinemia10.1MTHFR, F5
42neuronitis10.1
43hirschsprung's disease10.1
44gastric dilatation10.1
45cryptorchidism10.1
46craniosynostosis10.1
47esophagitis10.1
48oligohydramnios10.1
49cloacal exstrophy10.1
50colonic atresia10.1

Graphical network of the top 20 diseases related to Gastroschisis:



Diseases related to gastroschisis

Symptoms for Gastroschisis

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

230750

Clinical features from OMIM:

230750

Symptoms:

49
  • mesenterium anomaly/common mesentery/mesenteric adhesion
  • intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum)
  • gastroschisis

Drugs & Therapeutics for Gastroschisis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Gastroschisis:

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

Animal Models for Gastroschisis or affiliated genes

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37MGI
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Publications for Gastroschisis

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52PubMed
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Articles related to Gastroschisis:

(show top 50)    (show all 587)
idTitleAuthorsYear
1
Gastroschisis, omphalocele or something else? (23531629)
2014
2
Left-sided Gastroschisis: A Rare Congenital Anomaly. (24298510)
2013
3
Gastric contractility in experimental gastroschisis. (23414860)
2013
4
Human milk versus formula after gastroschisis repair: effects on time to full feeds and time to discharge. (23519369)
2013
5
Expectant management compared with elective delivery at 37 weeks for gastroschisis. (23635735)
2013
6
Gastroschisis, destructive brain lesions, and placental infarction in the second trimester suggest a vascular pathogenesis. (23895144)
2013
7
Corticosteroid effect upon intestinal and hepatic interleukin profile in a gastroschisis rat model. (23381817)
2013
8
Left-sided gastroschisis with placenta findings: case report and literature review. (22558479)
2012
9
Evolution of critically ill patients with gastroschisis from three tertiary centers. (21437430)
2011
10
Assessing the trend of gastroschisis prevalence in China from 1996 to 2007 using two analytical methods. (21308975)
2011
11
Ultrasound prediction of birthweight and growth restriction in fetal gastroschisis. (20723876)
2010
12
Changes in amniotic fluid index after maternal oral hydration in pregnancies with fetal gastroschisis: initial observations. (20606383)
2010
13
Evisceration and necrosis of gall bladder and evisceration of urinary bladder in a patient of gastroschisis. (20098013)
2010
14
Benchmarking the quality of care of infants with low-risk gastroschisis using a novel risk stratification index. (20236674)
2010
15
Perinatal demography of gastroschisis in North Queensland. (21166913)
2010
16
Gastroschisis and intrauterine growth restriction. (20362958)
2010
17
Mirror image left-sided gastroschisis. (20618216)
2010
18
Gastroschisis associated with an intra-abdominal umbilical vein varix: a report of 2 cases. (19786788)
2009
19
Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis. (19419415)
2009
20
Spontaneous sutureless closure of the abdominal wall defect in gastroschisis using a commercial wound retractor system. (19705131)
2009
21
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
22
Rare case of fetal gastroschisis with aplasia of the foot and external genital organs. (18778459)
2008
23
Anaesthetic management of gastroschisis - a review of our practice over the past 5 years. (18613932)
2008
24
Novel intra-operative pulse oximetry monitoring for gastroschisis: a noninvasive monitor of intra-abdominal pressure. (18315652)
2008
25
Fetal abdominal wall repair with a collagen biomatrix in an experimental sheep model for gastroschisis. (18636946)
2008
26
Scheduled preterm delivery for gastroschisis improves postoperative outcome. (18668252)
2008
27
Non-genetic risk factors for gastroschisis. (18655102)
2008
28
Outcomes in neonatal gastroschisis: an institutional experience. (17992713)
2007
29
Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome. (17694577)
2007
30
Outcomes of pregnancies with fetal gastroschisis. (17766615)
2007
31
Splanchnic perfusion pressure: a better predictor of safe primary closure than intraabdominal pressure in neonatal gastroschisis. (16677879)
2006
32
Does gastroschisis reduction require general anesthesia? A comparative analysis. (16818066)
2006
33
Erythropoietin restores bowel damage and hypoperistalsis in gastroschisis. (16481250)
2006
34
Primary fascial closure in 112 infants with gastroschisis. (16146253)
2005
35
Acardia syndrome coexisting with gastroschisis in the co-twin. (15602095)
2005
36
A "plastic" sutureless abdominal wall closure in gastroschisis. (15137009)
2004
37
Fetal home monitoring for the prenatal management of gastroschisis. (15488122)
2004
38
Isolated gastroschisis in successive siblings: a case report and review of the literature. (15193205)
2004
39
The effect on the intestines of continuous release of methylene blue from a drug delivery system: an experimental study in a chick embryo gastroschisis model. (15338173)
2004
40
Gastroschisis: the effect of labor and ruptured membranes on neonatal outcome. (14710097)
2003
41
Elective delayed midgut reduction-No anesthesia for gastroschisis: Selection and conversion criteria. (12194127)
2002
42
Unusual presentations of gastroschisis. (12206609)
2002
43
The outcome and analysis of 40 cases of fetal gastroschisis. (12370717)
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gastroschisis

Search GEO for disease gene expression data for Gastroschisis.

Pathways for genes affiliated with Gastroschisis

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Sources:
50PathCards, 53QIAGEN, 60Thomson Reuters, 38NCBI BioSystems Database, 51PharmGKB, 55Reactome, 30KEGG
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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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Sources:
45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 24HMDB, 29IUPHAR
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Compounds related to Gastroschisis according to GeneCards/GeneDecks:

(show top 50)    (show all 221)
idCompoundScoreTop Affiliating Genes
1bivalirudin45 1110.6F5, F2, MPO
2allopurinol45 51 1111.5MPO, 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 2410.1F2, CST3, F5, MTHFR, NOS3
10cyclophosphamide45 51 1111.0NOS3, MTHFR, F5, AFP, MPO
11methacholine45 51 1111.0NOS1, SLPI, MPO, ICAM1
12pentoxifylline45 119.9MPO, BMP6, IL6, ICAM1
13folate458.9AFP, CST3, F5, NOS1, NOS3, MTHFR
14pravastatin45 51 29 24 1112.8MTHFR, NOS3, ICAM1, NOS1, IL6
15uric acid45 249.7F5, CST3, AFP, MTHFR, SLPI
16prostacyclin458.7ICAM1, BMP6, NPPA, NOS3, F5
17aprotinin45 119.6CST3, IL6, F5, SLPI, F2
18atorvastatin45 51 29 24 1112.6ICAM1, BMP6, IL6, F5, NOS3
19epinephrine45 24 1110.6F5, NPPA, IL6, AFP, F2, BMP6
20carbachol45 29 1110.5BMP6, NOS3, NOS1, ACHE, SLPI
21aspirin45 51 29 2411.3NOS3, F5, F2, BMP6, MTHFR
22fluvastatin45 51 29 1111.3SLPI, NOS3, ICAM1, IL6
23polyethylene glycol458.3CST3, AFP, MPO, ICAM1, BMP6, F5
24hyaluronic acid45 249.2ICAM1, IL6, SLPI, F2, BMP6
25endotoxin458.1BMP6, F5, IL6, ICAM1, SLPI
26glutamate458.1F5, NOS3, BMP1, ACHE, AFP, MTHFR
27tamoxifen45 51 29 1111.1SLPI, NOS3, F2, BMP6, F5, NOS1
28simvastatin45 51 61 29 24 1113.1IL6, F2, ICAM1, AFP, NOS3, F5
29histamine45 29 2410.0BMP6, MPO, NOS1, SLPI, ICAM1, IL6
30ascorbic acid45 249.0F5, NOS1, ICAM1, NOS3, SLPI, MPO
31cisplatin45 51 61 1110.9CST3, MTHFR, MPO, SLPI, AFP, BMP6
32cholesterol45 29 24 1110.9ADD1, MTHFR, IL6, CST3, F5, SLPI
33methotrexate51 45 119.9IL6, BMP6, CST3, NOS1, NOS3, AFP
34testosterone45 61 24 1110.8MTHFR, AFP, SLPI, F5, NPPA, NOS1
35pge2457.8IL6, SLPI, MPO, NPPA, NOS1, BMP6
36vitamin d457.8AFP, MTHFR, IL6, BMP6, SLPI, NOS3
37heparin45 29 24 1110.7BMP1, BMP6, MTHFR, F2, SLPI, F5
38dexamethasone45 51 29 1110.6AFP, ICAM1, IL6, BMP6, CST3, NOS1
39fibrinogen457.6MTHFR, AFP, F2, ICAM1, IL6, CST3
40aspartate457.5MTHFR, F2, AFP, BMP1, BMP6, CST3
41calcium45 51 24 1110.3NOS3, NOS1, NPPA, SLPI, AFP, F5
42lactate457.2F5, SLPI, CST3, BMP6, IL6, MPO
43cyclosporin a45 29 619.2NPPA, F2, ICAM1, MTHFR, NOS1, IL6
44alanine456.9F2, AFP, BMP1, BMP6, CST3, F5
45nitric oxide45 24 118.8IL6, BMP6, MPO, ADD1, NOS1, F5
46estrogen456.6BMP6, IL6, MTHFR, AFP, SLPI, NPPA
47creatinine456.6SLPI, F2, AFP, IL6, NPPA, NOS1
48retinoic acid45 247.6IL6, 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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Sources:
16Gene Ontology
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Cellular components related to Gastroschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane-bounded vesicleGO:0319889.7BMP6, BMP1
2extracellular regionGO:0055768.0NPPA, F2, ACHE, IL6, BMP1, CST3
3extracellular spaceGO:0056156.2BMP6, IL6, CST3, F5, NPPA, ACHE

Biological processes related to Gastroschisis according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1neurotransmitter biosynthetic processGO:04213610.2NOS1, ACHE
2negative regulation of hydrolase activityGO:05134610.1NOS3, NOS1
3positive regulation of guanylate cyclase activityGO:03128410.1NOS1, NOS3
4arginine catabolic processGO:00652710.0NOS1, NOS3
5negative regulation of potassium ion transportGO:04326710.0NOS3, NOS1
6ovulation from ovarian follicleGO:00154210.0AFP, NOS3
7negative regulation of platelet activationGO:01054410.0F2, NOS3
8nitric oxide biosynthetic processGO:00680910.0NOS3, NOS1
9regulation of blood vessel sizeGO:0508809.9NOS3, NPPA
10negative regulation of calcium ion transportGO:0519269.9NOS3, ICAM1
11nitric oxide mediated signal transductionGO:0072639.8NOS3, NOS1
12SMAD protein signal transductionGO:0603959.7AFP, BMP6
13response to heatGO:0094089.6NOS3, NOS1, IL6
14response to hypoxiaGO:0016669.5NPPA, NOS1, MTHFR
15regulation of cell shapeGO:0083609.5F2, ICAM1, IL6
16skeletal system developmentGO:0015019.2BMP6, BMP1, AEBP1
17cell adhesionGO:0071558.8AEBP1, ICAM1, ACHE, F5
18blood coagulationGO:0075968.8NOS3, NOS1, F5, F2

Molecular functions related to Gastroschisis according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1nitric-oxide synthase activityGO:00451710.0NOS3, NOS1
2arginine bindingGO:0346189.9NOS1, NOS3
3tetrahydrobiopterin bindingGO:0346179.9NOS1, NOS3
4cadmium ion bindingGO:0468709.8NOS3, NOS1
5NADPH-hemoprotein reductase activityGO:0039589.8NOS1, NOS3
6FMN bindingGO:0101819.7NOS3, NOS1
7NADP bindingGO:0506619.6NOS3, NOS1, MTHFR
8flavin adenine dinucleotide bindingGO:0506609.5NOS3, NOS1, MTHFR
9cytokine activityGO:0051259.2BMP6, BMP1, IL6
10heme bindingGO:0200379.2NOS3, NOS1, MPO
11growth factor activityGO:0080839.1BMP6, BMP1, IL6, F2
12calmodulin bindingGO:0055169.1AEBP1, ADD1, NOS1, NOS3

Products for genes affiliated with Gastroschisis

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  • Antibodies
  • Proteins
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Sources for Gastroschisis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet