MCID: GST009
MIFTS: 63

Gastroschisis malady

Gastrointestinal diseases, Fetal diseases categories

Summaries for Gastroschisis

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 hypertension, and has symptoms including gastroschisis, mesenterium anomaly/common mesentery/mesenteric adhesion and intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum). An important gene associated with Gastroschisis is ACHE (acetylcholinesterase), and among its related pathways are NO-dependent CFTR activation (normal and CF) and glutamine degradation I. The compounds estrogen and glutamate have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and colon, and related mouse phenotypes are skeleton and muscle.

Description from OMIM:46 230750

Aliases & Classifications for Gastroschisis

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 34MeSH, 56SNOMED-CT, 27ICD9CM, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
gastroschisis:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

gastroschisis 8 42 10 44 48 46 60
congenital fissure of the abdominal cavity 42
laparoschisis 48


External Ids:

Disease Ontology8 DOID:11044
MeSH34 D020139
ICD9CM27 756.73
NCIt39 C84725
OMIM46 230750
SNOMED-CT56 72951007
MESH via Orphanet35 D020139
ICD10 via Orphanet26 Q79.3
SNOMED-CT via Orphanet57 72951007
UMLS via Orphanet61 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 203)
idRelated DiseaseScoreTop Affiliating Genes
1omphalocele30.0AFP, ACHE
2hypertension30.0ICAM1, CST3, NPPA, F5, MTHFR, F2
3respiratory failure29.8ICAM1
4cholestasis29.8F2, SLPI
5hepatitis29.8AFP, F2
6deficiency anemia29.8F2, NOS1
7hepatitis a29.8F2
8ischemia29.8ICAM1, CST3, MPO, NOS3, NOS1
9intestinal atresia10.5
10congenital diaphragmatic hernia10.2
11short bowel syndrome10.1
12esophagitis10.1
13abdominal wall defect10.1
14gastric dilatation10.0
15cryptorchidism10.0
16neuronitis10.0
17hirschsprung's disease10.0
18craniosynostosis10.0
19oligohydramnios10.0
20glaucoma10.0ACHE
21hyperthyroidism10.0SLPI
22sarcoma10.0SLPI
23hypothyroidism10.0CST3
24meningioma10.0CST3
25gingivitis10.0CST3
26pulmonary emphysema10.0SLPI
27polyneuropathy10.0ACHE
28nephrotic syndrome10.0NPPA
29pre-eclampsia10.0AFP
30peripheral vascular disease10.0MPO
31sickle cell disease10.0NOS3
32hypercholesterolemia10.0NOS3
33choriocarcinoma10.0AFP
34portal hypertension10.0NOS3
35lupus nephritis10.0ICAM1
36hepatopulmonary syndrome10.0NOS3
37hydrocephalus10.0AFP
38proliferative diabetic retinopathy10.0ICAM1
39varicose veins10.0F2
40acute pancreatitis10.0SULT1A3, MPO
41nephritis10.0SULT1A3, MPO
42eclampsia10.0MTHFR
43extragonadal germ cell tumor10.0AFP
44wegener's granulomatosis10.0SLPI, MPO
45migraine10.0MTHFR
46cystic fibrosis10.0SLPI, MPO
47malaria10.0ICAM1, ACHE
48von willebrand's disease10.0F2
49multiple sclerosis10.0CST3, ICAM1
50myeloma10.0ICAM1, CST3

Graphical network of the top 20 diseases related to Gastroschisis:



Diseases related to gastroschisis

Clinical Features for Gastroschisis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

230750

Clinical synopsis from OMIM:

230750

Symptoms:

48
  • gastroschisis
  • mesenterium anomaly/common mesentery/mesenteric adhesion
  • intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum)

Drugs & Therapeutics for Gastroschisis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards
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MalaCards organs/tissues related to Gastroschisis:

32
Small intestine, Liver, Colon, Skin, Placenta, Smooth muscle, Testis, Heart, Kidney, Brain

Animal Models for Gastroschisis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Gastroschisis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.5NOS1, NOS3, HOXB5, BMP1
2MP:00053698.7ICAM1, CST3, NPPA, NOS3, NOS1, ACHE
3MP:00053858.2CST3, NPPA, BMP1, ARID3B, MPO, F2
4MP:00053977.7ICAM1, NPPA, MPO, F2, SLPI, NOS3
5MP:00036317.3ICAM1, CST3, ARID3B, F5, MTHFR, HOXB5
6MP:00053766.4ADD1, ICAM1, CST3, NPPA, F5, MPO
7MP:00053786.3ICAM1, BMP1, BMP6, ARID3B, F5, AEBP1
8MP:00107686.1AEBP1, MPO, F5, ARID3B, BMP1, ICAM1

Publications for Gastroschisis

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Sources:
50PubMed
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Articles related to Gastroschisis:

(show top 50)    (show all 593)
idTitleAuthorsYear
1
Gastroschisis, destructive brain lesions, and placental infarction in the second trimester suggest a vascular pathogenesis. (23895144)
2013
2
Enteric nervous system impairment in gastroschisis. (23100056)
2013
3
Intra-amniotic administration of urinary trypsin inhibitor preserves intestinal contractility in meconium induced intestinal damage in chick embryos with gastroschisis. (23895961)
2013
4
Gastroschisis treatment: what are the causes of high morbidity and mortality rates? (23958095)
2013
5
Gastroschisis. (23763807)
2013
6
Left-sided gastroschisis with placenta findings: case report and literature review. (22558479)
2012
7
Anencephaly and gastroschisis in the same foetus: a rarity. (23520683)
2012
8
The prevalence of preterm births in pregnancies complicated with fetal gastroschisis. (22660889)
2012
9
Fetoscopic management of gastroschisis in a lamb model. (22179441)
2012
10
Is complex gastroschisis predictable by prenatal ultrasound? (22017923)
2012
11
Omphalocele, gastroschisis: epidemiology, survival, and mortality in Imam Khomeini hospital, Ahvaz-Iran. (22487740)
2012
12
Primary suture-less closure of gastroschisis using negative pressure dressing (wound vacuum). (21780019)
2011
13
Gastroschisis. (22089733)
2011
14
Does gastric dilation predict adverse perinatal or surgical outcome in fetuses with gastroschisis? (21264982)
2011
15
Closed gastroschisis. (21113601)
2011
16
Effective surveillance of gastroschisis and omphalocele: separate International Classification of Diseases, Ninth Revision codes! (21292106)
2011
17
Changes in amniotic fluid index after maternal oral hydration in pregnancies with fetal gastroschisis: initial observations. (20606383)
2010
18
No free ride? The hidden costs of delayed operative management using a spring-loaded silo for gastroschisis. (20638519)
2010
19
Pathogenic implications of remnant vitelline structures in gastroschisis. (20920723)
2010
20
Gastroschisis in mice lacking aortic carboxypeptidase-like protein is associated with a defect in neuromuscular development of the eviscerated intestine. (20386491)
2010
21
Case-control study of a gastroschisis cluster in Nevada. (19884590)
2009
22
Mode of delivery and neonatal survival of infants with gastroschisis in Australia and New Zealand. (18779007)
2008
23
The outcome of gastroschisis after a prenatal diagnosis or a diagnosis only at birth. Recommendations for prenatal surveillance. (18068889)
2008
24
Prenatal ultrasonographic gastrointestinal abnormalities in fetuses with gastroschisis do not correlate with postnatal outcomes. (18405710)
2008
25
Gastroschisis: clinical presentation and associations. (18655099)
2008
26
Preservation of extracorporeal tissue in closing gastroschisis augments intestinal length. (19040937)
2008
27
Intestinal transplantation for short bowel syndrome secondary to gastroschisis. (17101355)
2006
28
Three-dimensional magnetic resonance imaging after ultrasonography for assessment of fetal gastroschisis. (16455410)
2006
29
Urinary trypsin inhibitor present in fetal urine prevents intraamniotic meconium-induced intestinal damage in gastroschisis. (16863846)
2006
30
Family cases of gastroschisis. (15852295)
2005
31
Increasing prevalence of gastroschisis in Utah. (15793731)
2005
32
Gastroschisis revisited: role of intraoperative measurement of abdominal pressure. (15937815)
2005
33
Surveillance and outcome of fetuses with gastroschisis. (14970991)
2004
34
Fetal gastrointestinal motility in a rabbit model of gastroschisis. (15017553)
2004
35
Gastroschisis: the effect of labor and ruptured membranes on neonatal outcome. (14710097)
2003
36
Effects of prenatal dexamethasone on the intestine of rats with gastroschisis. (12861532)
2003
37
Gastroschisis: A sixteen-year review. (12720191)
2003
38
Benefits of term delivery in infants with antenatally diagnosed gastroschisis. (12576270)
2003
39
Prenatal management of gastroschisis: the place of the amnioexchange procedure. (14533896)
2003
40
Meconium dependence of bowel damage in gastroschisis. (12077782)
2002
41
Gastroschisis and omphalocele. (10798139)
1999
42
Intraoperative vascular assessment for estimation of risk in primary closure of omphalocele and gastroschisis. (24057523)
1996
43
Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. (8533813)
1995
44
Does ascertainment bias contribute to the reported association of omphalocele and gastroschisis with other birth defects in families but not in individuals? (8135295)
1993
45
Gastroschisis and intestinal atresia. (1832714)
1991
46
Fetal gastroschisis and omphalocele: is cesarean section the best mode of delivery? (2144949)
1990
47
Abdominal wall defects: omphalocele and gastroschisis (continuing education credit). (2961975)
1987
48
Prenatal diagnosis of omphalocele and gastroschisis by ultrasonography. (2418434)
1985
49
Primary fascial closure in infants with gastroschisis and omphalocele: a superior approach. (6229619)
1983
50
Immediate permanent fascial prosthesis for gastroschisis and massive omphalocele. (6454268)
1981

Genetic Variations for Gastroschisis

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Expression for genes affiliated with Gastroschisis

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1BioGPS, 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:
37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Gastroschisis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
NO-dependent CFTR activation (normal and CF)
9.9NOS1, NOS3
2
Hide members
9.9NOS1, NOS3
39.7F2, MPO, ICAM1
4
Hide members
8.8BMP1, BMP6, NOS3, NOS1

Compounds for genes affiliated with Gastroschisis

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Gastroschisis according to GeneCards/GeneDecks:

(show top 50)    (show all 160)
idCompoundScoreTop Affiliating Genes
1estrogen4410.7SULT1A3
2glutamate4410.5ACHE, BMP1
3tamoxifen44 49 28 1113.2SLPI
4metoprolol44 28 49 11 2414.0NPPA, ICAM1, NOS3
5bivalirudin44 1110.9F2, MPO, F5
6N-{(3R,4S)-4-[(6-amino-4-methylpyridin-2-yl)methyl]pyrrolidin-3-yl}-N'-(3-chlorobenzyl)ethane-1,2-diamine119.9NOS3, NOS1
7serine449.8BMP1, ACHE, ADD1, MPO, AFP
8cystathionine449.8F5, CST3, MTHFR
9Nitroarginine119.8NOS1, NOS3
10apocynin44 5910.8ICAM1, MPO, NOS1, NOS3
11allopurinol44 49 1111.8MPO, NOS1, NOS3, ICAM1
12matrigel449.7NOS3, SLPI
13aprotinin44 1110.7SLPI, F5
14carboplatin44 49 1111.7CST3, AFP, MTHFR, MPO
15ng-nitro-l-arginine449.7NOS1, NOS3, NPPA
16N-{(4s)-4-Amino-5-[(2-Aminoethyl)Amino]Pentyl}-N'-Nitroguanidine119.6NOS3, NOS1
17kininogen449.5NPPA, F2, MPO, F5, CST3
18vitamin b12449.5CST3, MPO, F5, AFP, MTHFR
19uric acid44 2410.4SLPI, AFP, F5, CST3
20dopamine44 28 11 2412.4SULT1A3, BMP6, NOS1
21methacholine44 1110.4SLPI, MPO, ICAM1, NOS1
22cyclophosphamide44 49 1111.3AFP, NOS3, MPO, F5, MTHFR
23homocysteine44 2410.2F2, MTHFR, SULT1A3, CST3, F5, NOS3
24cyclosporin a44 28 5911.2CST3, F2, ICAM1, NOS1, SLPI
25azathioprine44 49 2 1112.1MTHFR, SLPI, AFP, NOS3
26nacl449.1SLPI, AFP, NPPA, F5, SULT1A3
27folate449.1F5, MTHFR, NOS3, CST3, NOS1, AFP
28aspartate448.9SULT1A3, CST3, F2, AFP, BMP6, BMP1
29arginine448.9SULT1A3, NOS3, F5, BMP1, NPPA, CST3
30prostacyclin448.8NPPA, BMP6, F5, NOS3, ICAM1
31sodium dodecylsulfate448.8NPPA, BMP6, F5, NOS3
32epinephrine44 11 2410.7F2, NPPA, BMP6, F5, AFP, SULT1A3
33carbachol44 28 1110.6BMP6, ACHE, NOS3, NOS1, SLPI
34simvastatin44 49 59 28 11 2413.6ICAM1, BMP6, F5, AFP, F2, NOS3
35cholesterol44 28 11 2411.6F5, ADD1, SULT1A3, SLPI, AFP, MTHFR
36dexamethasone44 49 28 1111.6NOS1, BMP6, AFP, SULT1A3, SLPI
37aspirin44 49 28 2411.5SULT1A3, F2, BMP6, NOS3, F5, MTHFR
38ascorbic acid44 249.4MTHFR, MPO, ICAM1, F5, SLPI, NOS3
39heparin44 28 11 2411.4SLPI, BMP1, BMP6, MPO, AFP, MTHFR
40methotrexate44 49 1110.4NOS1, BMP6, MTHFR, AFP, F2, NOS3
41fibrinogen448.3F5, MTHFR, SULT1A3, F2, SLPI, ICAM1
42polyethylene glycol448.2CST3, ICAM1, F2, AFP, MPO, F5
43cisplatin44 49 59 1111.2MTHFR, BMP6, CST3, MPO, AFP, SLPI
44lactate447.8SLPI, ICAM1, CST3, BMP6, F5, F2
45calcium44 49 11 2410.6AFP, MPO, F5, BMP1, NPPA, CST3
46creatinine447.6BMP6, F5, AFP, SLPI, NOS1, SULT1A3
47alanine447.4NOS1, SLPI, AFP, F2, BMP6, MTHFR
48retinoic acid44 248.3F5, AFP, BMP6, SLPI, ICAM1, MPO
49nitric oxide44 11 249.3ADD1, SULT1A3, NOS1, NOS3, SLPI, MPO
50vegf447.3AFP, SLPI, NOS1, NOS3, MPO, F5

GO Terms for genes affiliated with Gastroschisis

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16Gene Ontology
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Cellular components related to Gastroschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.3NPPA, BMP1, F5, F2, SLPI, ACHE
2extracellular spaceGO:0056156.7ACHE, ICAM1, CST3, NPPA, BMP1, BMP6

Biological processes related to Gastroschisis according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ovulation from ovarian follicleGO:00154210.1NOS3, AFP
2positive regulation of guanylate cyclase activityGO:03128410.0NOS1, NOS3
3negative regulation of hydrolase activityGO:05134610.0NOS1, NOS3
4arginine catabolic processGO:0065279.9NOS1, NOS3
5negative regulation of platelet activationGO:0105449.9F2, NOS3
6nitric oxide biosynthetic processGO:0068099.9NOS1, NOS3
7negative regulation of potassium ion transportGO:0432679.8NOS1, NOS3
8negative regulation of calcium ion transportGO:0519269.6NOS3, ICAM1

Molecular functions related to Gastroschisis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nitric-oxide synthase activityGO:00451710.0NOS1, NOS3
2tetrahydrobiopterin bindingGO:0346179.9NOS1, NOS3
3arginine bindingGO:0346189.9NOS1, NOS3
4cadmium ion bindingGO:0468709.9NOS1, NOS3
5NADPH-hemoprotein reductase activityGO:0039589.6NOS1, NOS3
6calmodulin bindingGO:0055169.1AEBP1, NOS3, NOS1, ADD1

Products for genes affiliated with Gastroschisis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gastroschisis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet