MCID: GST009
MIFTS: 66

Gastroschisis malady

Rare diseases, Gastrointestinal diseases, Fetal diseases categories

Summaries for Gastroschisis

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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:48 230750

Aliases & Classifications for Gastroschisis

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 59SNOMED-CT, 36MeSH, 28ICD9CM, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
gastroschisis:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

gastroschisis 9 44 11 46 50 48 63
congenital fissure of the abdominal cavity 44
laparoschisis 50


External Ids:

Disease Ontology9 DOID:11044
OMIM48 230750
MeSH36 D020139
ICD9CM28 756.73
NCIt41 C84725
SNOMED-CT59 72951007
MESH via Orphanet37 D020139
ICD10 via Orphanet27 Q79.3
SNOMED-CT via Orphanet60 72951007
UMLS via Orphanet64 C0265706
ICD1026 Q79.3

Related Diseases for Gastroschisis

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

230750

Clinical features from OMIM:

230750

Symptoms:

50
  • mesenterium anomaly/common mesentery/mesenteric adhesion
  • intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum)
  • gastroschisis

Drugs & Therapeutics for Gastroschisis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Gastroschisis

Drug clinical trials:

Search ClinicalTrials for Gastroschisis

Search NIH Clinical Center for Gastroschisis

Search CenterWatch for Gastroschisis

Genetic Tests for Gastroschisis

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Anatomical Context for Gastroschisis

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34MalaCards
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MalaCards organs/tissues related to Gastroschisis:

34
Small intestine, Liver, Skin, Colon, Placenta, Kidney, Testis, Smooth muscle, Heart, Brain

Animal Models for Gastroschisis or affiliated genes

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38MGI
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Publications for Gastroschisis

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53PubMed
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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, 16Gene 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:
51PathCards, 54QIAGEN, 61Thomson Reuters, 39NCBI BioSystems Database, 52PharmGKB, 56Reactome, 31KEGG
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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 apoptosis39
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 events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
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 pathway39
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:
46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 25HMDB, 30IUPHAR
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Compounds related to Gastroschisis according to GeneCards/GeneDecks:

(show top 50)    (show all 221)
idCompoundScoreTop Affiliating Genes
1bivalirudin46 1210.6F5, F2, MPO
2allopurinol46 52 1211.5MPO, NOS3, NOS1, ICAM1
3apocynin46 6210.5NOS3, MPO, NOS1, ICAM1
4kininogen469.4F2, CST3, F5, NPPA, MPO
5vitamin b12469.3AFP, MTHFR, MPO, F5, CST3
68-isoprostane469.2NOS3, IL6, MPO, ICAM1
7dextran sulfate469.1IL6, ICAM1, MPO, F5
8taurine chloramine469.1IL6, F5, MPO
9homocysteine46 2510.1F2, CST3, F5, MTHFR, NOS3
10cyclophosphamide46 52 1211.0NOS3, MTHFR, F5, AFP, MPO
11methacholine46 52 1211.0NOS1, SLPI, MPO, ICAM1
12pentoxifylline46 129.9MPO, BMP6, IL6, ICAM1
13folate468.9AFP, CST3, F5, NOS1, NOS3, MTHFR
14pravastatin46 52 30 25 1212.8MTHFR, NOS3, ICAM1, NOS1, IL6
15uric acid46 259.7F5, CST3, AFP, MTHFR, SLPI
16prostacyclin468.7ICAM1, BMP6, NPPA, NOS3, F5
17aprotinin46 129.6CST3, IL6, F5, SLPI, F2
18atorvastatin46 52 30 25 1212.6ICAM1, BMP6, IL6, F5, NOS3
19epinephrine46 25 1210.6F5, NPPA, IL6, AFP, F2, BMP6
20carbachol46 30 1210.5BMP6, NOS3, NOS1, ACHE, SLPI
21aspirin46 52 30 2511.3NOS3, F5, F2, BMP6, MTHFR
22fluvastatin46 52 30 1211.3SLPI, NOS3, ICAM1, IL6
23polyethylene glycol468.3CST3, AFP, MPO, ICAM1, BMP6, F5
24hyaluronic acid46 259.2ICAM1, IL6, SLPI, F2, BMP6
25endotoxin468.1BMP6, F5, IL6, ICAM1, SLPI
26glutamate468.1F5, NOS3, BMP1, ACHE, AFP, MTHFR
27tamoxifen46 52 30 1211.1SLPI, NOS3, F2, BMP6, F5, NOS1
28simvastatin46 52 62 30 25 1213.1IL6, F2, ICAM1, AFP, NOS3, F5
29histamine46 30 2510.0BMP6, MPO, NOS1, SLPI, ICAM1, IL6
30ascorbic acid46 259.0F5, NOS1, ICAM1, NOS3, SLPI, MPO
31cisplatin46 52 62 1210.9CST3, MTHFR, MPO, SLPI, AFP, BMP6
32cholesterol46 30 25 1210.9ADD1, MTHFR, IL6, CST3, F5, SLPI
33methotrexate52 46 129.9IL6, BMP6, CST3, NOS1, NOS3, AFP
34testosterone46 62 25 1210.8MTHFR, AFP, SLPI, F5, NPPA, NOS1
35pge2467.8IL6, SLPI, MPO, NPPA, NOS1, BMP6
36vitamin d467.8AFP, MTHFR, IL6, BMP6, SLPI, NOS3
37heparin46 30 25 1210.7BMP1, BMP6, MTHFR, F2, SLPI, F5
38dexamethasone46 52 30 1210.6AFP, ICAM1, IL6, BMP6, CST3, NOS1
39fibrinogen467.6MTHFR, AFP, F2, ICAM1, IL6, CST3
40aspartate467.5MTHFR, F2, AFP, BMP1, BMP6, CST3
41calcium46 52 25 1210.3NOS3, NOS1, NPPA, SLPI, AFP, F5
42lactate467.2F5, SLPI, CST3, BMP6, IL6, MPO
43cyclosporin a46 30 629.2NPPA, F2, ICAM1, MTHFR, NOS1, IL6
44alanine466.9F2, AFP, BMP1, BMP6, CST3, F5
45nitric oxide46 25 128.8IL6, BMP6, MPO, ADD1, NOS1, F5
46estrogen466.6BMP6, IL6, MTHFR, AFP, SLPI, NPPA
47creatinine466.6SLPI, F2, AFP, IL6, NPPA, NOS1
48retinoic acid46 257.6IL6, MTHFR, SLPI, ICAM1, MPO, F5
49vegf466.5SLPI, AFP, NOS1, NOS3, NPPA, F5
50serine466.3CST3, SLPI, NOS1, F5, NOS3, BMP6

GO Terms for genes affiliated with Gastroschisis

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Sources:
17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet