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MCID: GST009
MIFTS: 58

Gastroschisis malady

Gastrointestinal, Fetal categories
3 symptoms, 21 genes, 14 tissues, 205 related diseases, clinical trials.

Summaries for Gastroschisis

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64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 neural tube defects, and has symptoms including intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum), mesenterium anomaly/common mesentery/mesenteric adhesion and gastroschisis. 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 skin, liver and spinal cord, and related mouse phenotypes are skeleton and muscle.

Description from OMIM:47 230750

Aliases & Classifications for Gastroschisis

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 35MeSH, 57SNOMED-CT, 27ICD9CM, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Gastrointestinal
ICD10: 26 25


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 61
congenital fissure of the abdominal cavity 43
laparoschisis 49


External Ids:

Disease Ontology8 DOID:11044
MeSH35 D020139
ICD9CM27 756.73
NCIt40 C84725
OMIM47 230750
SNOMED-CT57 72951007
MESH via Orphanet36 D020139
ICD10 via Orphanet26 Q79.3
SNOMED-CT via Orphanet58 72951007
UMLS via Orphanet62 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 205)
idRelated DiseaseScoreTop Affiliating Genes
1omphalocele31.4ACHE, AFP
2neural tube defects29.8ACHE, MTHFR, AFP
3anencephaly29.8AFP, ACHE, MTHFR
4thromboembolism29.8MTHFR, F5, F2, NOS3, SULT1A3
5intestinal atresia10.5
6abdominal wall defect10.5
7congenital diaphragmatic hernia10.2
8short bowel syndrome10.1
9short syndrome10.1
10chylous ascites10.1
11cryptorchidism10.1
12prune belly syndrome10.1
13jejunal atresia10.1
14cloacal exstrophy10.1
15colonic atresia10.1
16laparoschisis10.1
17glaucoma10.0ACHE
18hyperthyroidism10.0SLPI
19sarcoma10.0SLPI
20hypothyroidism10.0CST3
21meningioma10.0CST3
22gingivitis10.0CST3
23pulmonary emphysema10.0SLPI
24polyneuropathy10.0ACHE
25nephrotic syndrome10.0NPPA
26pre-eclampsia10.0AFP
27peripheral vascular disease10.0MPO
28sickle cell disease10.0NOS3
29hypercholesterolemia10.0NOS3
30choriocarcinoma10.0AFP
31respiratory failure10.0ICAM1
32portal hypertension10.0NOS3
33lupus nephritis10.0ICAM1
34hepatopulmonary syndrome10.0NOS3
35hydrocephalus10.0AFP
36proliferative diabetic retinopathy10.0ICAM1
37varicose veins10.0F2
38acute pancreatitis10.0MPO, SULT1A3
39nephritis10.0MPO, SULT1A3
40eclampsia10.0MTHFR
41extragonadal germ cell tumor10.0AFP
42wegener's granulomatosis10.0MPO, SLPI
43migraine10.0MTHFR
44cystic fibrosis10.0MPO, SLPI
45malaria10.0ACHE, ICAM1
46von willebrand's disease10.0F2
47multiple sclerosis10.0CST3, ICAM1
48myeloma10.0ICAM1, CST3
49thrombocytosis10.0F2
50insulin resistance10.0NOS3, ADD1

Graphical network of the top 20 diseases related to Gastroschisis:



Diseases related to gastroschisis

Clinical Features for Gastroschisis

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47OMIM, 49Orphanet
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Clinical features from OMIM:

230750

Clinical synopsis from OMIM:

230750

Symptoms:

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

Drugs & Therapeutics for Gastroschisis

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Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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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33MalaCards
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MalaCards organs/tissues related to Gastroschisis:

33
Skin, Liver, Spinal cord, Brain, Kidney, Heart, Smooth muscle, Small intestine, Colon, Placenta, Testis, B cells, Fetal brain, Fetal liver

Animal Models for Gastroschisis or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Gastroschisis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
skeleton phenotype
MP:00053909.5NOS1, NOS3, HOXB5, BMP1
2
muscle phenotype
MP:00053698.7ICAM1, CST3, NPPA, NOS3, NOS1, ACHE
3
cardiovascular system phenotype
MP:00053858.2CST3, NPPA, BMP1, ARID3B, MPO, F2
4
hematopoietic system phenotype
MP:00053977.7ICAM1, NPPA, MPO, F2, SLPI, NOS3
5
nervous system phenotype
MP:00036317.3ICAM1, CST3, ARID3B, F5, MTHFR, HOXB5
6
homeostasis/metabolism phenotype
MP:00053766.4ADD1, ICAM1, CST3, NPPA, F5, MPO
7
growth/size phenotype
MP:00053786.3ICAM1, BMP1, BMP6, ARID3B, F5, AEBP1
8
mortality/aging
MP:00107686.1AEBP1, MPO, F5, ARID3B, BMP1, ICAM1

Publications for Gastroschisis

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51PubMed
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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
Is preterm delivery indicated in fetuses with gastroschisis and antenatally detected bowel dilation? (22813923)
2012
10
Fetoscopic management of gastroschisis in a lamb model. (22179441)
2012
11
Is complex gastroschisis predictable by prenatal ultrasound? (22017923)
2012
12
Omphalocele, gastroschisis: epidemiology, survival, and mortality in Imam Khomeini hospital, Ahvaz-Iran. (22487740)
2012
13
Primary suture-less closure of gastroschisis using negative pressure dressing (wound vacuum). (21780019)
2011
14
Gastroschisis. (22089733)
2011
15
Does gastric dilation predict adverse perinatal or surgical outcome in fetuses with gastroschisis? (21264982)
2011
16
Gastroschisis: one year outcomes from national cohort study. (22089731)
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
Method to our madness: an 18-year retrospective analysis on gastroschisis closure. (20223323)
2010
21
Re: "Maternal asthma medication use and the risk of gastroschisis". (19515793)
2009
22
Case-control study of a gastroschisis cluster in Nevada. (19884590)
2009
23
Mode of delivery and neonatal survival of infants with gastroschisis in Australia and New Zealand. (18779007)
2008
24
The outcome of gastroschisis after a prenatal diagnosis or a diagnosis only at birth. Recommendations for prenatal surveillance. (18068889)
2008
25
Prenatal ultrasonographic gastrointestinal abnormalities in fetuses with gastroschisis do not correlate with postnatal outcomes. (18405710)
2008
26
Gastroschisis and omphalocele in Singapore: a ten-year series from 1993 to 2002. (18204766)
2008
27
Gastroschisis: clinical presentation and associations. (18655099)
2008
28
Preservation of extracorporeal tissue in closing gastroschisis augments intestinal length. (19040937)
2008
29
Intestinal transplantation for short bowel syndrome secondary to gastroschisis. (17101355)
2006
30
Three-dimensional magnetic resonance imaging after ultrasonography for assessment of fetal gastroschisis. (16455410)
2006
31
Urinary trypsin inhibitor present in fetal urine prevents intraamniotic meconium-induced intestinal damage in gastroschisis. (16863846)
2006
32
Family cases of gastroschisis. (15852295)
2005
33
Gastroschisis revisited: role of intraoperative measurement of abdominal pressure. (15937815)
2005
34
Surveillance and outcome of fetuses with gastroschisis. (14970991)
2004
35
Fetal gastrointestinal motility in a rabbit model of gastroschisis. (15017553)
2004
36
Gastroschisis: the effect of labor and ruptured membranes on neonatal outcome. (14710097)
2003
37
Effects of prenatal dexamethasone on the intestine of rats with gastroschisis. (12861532)
2003
38
Gastroschisis: A sixteen-year review. (12720191)
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:
38NCBI BioSystems Database, 52QIAGEN
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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
glutamine degradation I38
Hide members
9.9NOS1, NOS3
3
Selenium Pathway38
9.7F2, MPO, ICAM1
4
G-Beta Gamma Signaling52
Hide members
8.8BMP1, BMP6, NOS3, NOS1

Compounds for genes affiliated with Gastroschisis

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Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 2BitterDB
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Compounds related to Gastroschisis according to GeneCards/GeneDecks:

(show top 50)    (show all 160)
idCompoundScoreTop Affiliating Genes
1estrogen4510.7SULT1A3
2glutamate4510.5BMP1, ACHE
3tamoxifen45 50 29 1113.2SLPI
4metoprolol45 29 50 11 2414.0NOS3, NPPA, ICAM1
5bivalirudin45 1110.9F5, MPO, F2
6Nitroarginine119.9NOS1, NOS3
7serine459.8BMP1, MPO, AFP, ACHE, ADD1
8cystathionine459.8MTHFR, F5, CST3
9N-{(3R,4S)-4-[(6-amino-4-methylpyridin-2-yl)methyl]pyrrolidin-3-yl}-N'-(3-chlorobenzyl)ethane-1,2-diamine119.8NOS1, NOS3
10apocynin45 6010.8ICAM1, MPO, NOS3, NOS1
11allopurinol45 50 1111.8ICAM1, MPO, NOS3, NOS1
12matrigel459.7NOS3, SLPI
13aprotinin45 1110.7F5, SLPI
14carboplatin45 50 1111.7CST3, MPO, MTHFR, AFP
15ng-nitro-l-arginine459.7NPPA, NOS3, NOS1
16N-{(4s)-4-Amino-5-[(2-Aminoethyl)Amino]Pentyl}-N'-Nitroguanidine119.6NOS1, NOS3
17kininogen459.5CST3, NPPA, F5, MPO, F2
18vitamin b12459.5CST3, F5, MPO, MTHFR, AFP
19uric acid45 2410.4CST3, F5, AFP, SLPI
20dopamine45 29 11 2412.4SULT1A3, NOS1, BMP6
21methacholine45 1110.4NOS1, SLPI, MPO, ICAM1
22cyclophosphamide45 50 1111.3F5, MPO, MTHFR, AFP, NOS3
23homocysteine45 2410.2CST3, F5, MTHFR, F2, NOS3, SULT1A3
24cyclosporin a45 29 6011.2ICAM1, CST3, F2, SLPI, NOS1
25azathioprine45 50 2 1112.1MTHFR, AFP, SLPI, NOS3
26nacl459.1NPPA, F5, AFP, SLPI, SULT1A3
27folate459.1CST3, F5, MTHFR, AFP, NOS3, NOS1
28aspartate458.9CST3, BMP1, BMP6, AFP, F2, SULT1A3
29arginine458.9CST3, NPPA, BMP1, F5, NOS3, NOS1
30prostacyclin458.8NOS3, F5, BMP6, NPPA, ICAM1
31sodium dodecylsulfate458.8NPPA, BMP6, F5, NOS3
32epinephrine45 11 2410.7NPPA, BMP6, F5, AFP, F2, SULT1A3
33carbachol45 29 1110.6ACHE, NOS1, NOS3, SLPI, BMP6
34simvastatin45 50 60 29 11 2413.6ICAM1, BMP6, F5, AFP, F2, NOS3
35cholesterol45 29 11 2411.6CST3, F5, MTHFR, AFP, SLPI, SULT1A3
36dexamethasone45 50 29 1111.6BMP6, AFP, SLPI, NOS1, SULT1A3
37aspirin45 50 29 2411.5BMP6, F5, MTHFR, F2, NOS3, SULT1A3
38ascorbic acid45 249.4ICAM1, F5, MPO, MTHFR, SLPI, NOS3
39heparin45 29 11 2411.4BMP1, BMP6, MPO, MTHFR, AFP, SLPI
40methotrexate45 50 1110.4CST3, BMP6, MTHFR, AFP, F2, NOS3
41fibrinogen458.3ICAM1, CST3, F5, MTHFR, AFP, F2
42polyethylene glycol458.2F2, ICAM1, CST3, NPPA, BMP6, F5
43cisplatin45 50 60 1111.2CST3, BMP6, MPO, MTHFR, AFP, SLPI
44lactate457.8ICAM1, CST3, BMP6, F5, MPO, AFP
45calcium45 50 11 2410.6CST3, NPPA, BMP1, F5, MPO, AFP
46creatinine457.6CST3, NPPA, BMP6, F5, AFP, F2
47alanine457.4CST3, BMP1, BMP6, F5, MTHFR, AFP
48retinoic acid45 248.3ICAM1, BMP6, F5, MPO, MTHFR, AFP
49nitric oxide45 11 249.3F5, BMP6, NPPA, ICAM1, MPO, SLPI
50vegf457.3ICAM1, CST3, NPPA, BMP6, F5, MPO

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

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3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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