MCID: GST009
MIFTS: 66

Gastroschisis malady

Rare diseases, Gastrointestinal diseases, Fetal diseases categories
Download this MalaCard

Summaries for Gastroschisis

About this section


Fully expand this MalaCard
Wikipedia:65 Gastroschisis represents a congenital defect characterized 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 anencephaly, and has symptoms including gastroschisis, intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum) and mesenterium anomaly/common mesentery/mesenteric adhesion. 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.

Description from OMIM:46 230750

Aliases & Classifications for Gastroschisis

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 34MeSH, 39NCIt, 27ICD9CM, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Gastroschisis, Aliases & Descriptions:

Name: Gastroschisis 8 42 10 44 48 46 62
Congenital Fissure of the Abdominal Cavity 42 62
 
Laparoschisis 48


Classifications:

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


External Ids:

Disease Ontology8 DOID:11044
MeSH34 D020139
NCIt39 C84725
ICD9CM27 756.73
OMIM46 230750
SNOMED-CT57 72951007
MESH via Orphanet35 D020139
ICD10 via Orphanet26 Q79.3
UMLS via Orphanet63 C0265706
ICD1025 Q79.3

Related Diseases for Gastroschisis

About this section

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

(show top 50)    (show all 172)
idRelated DiseaseScoreTop Affiliating Genes
1omphalocele32.1AFP, ACHE
2anencephaly30.2AFP, ACHE, MTHFR
3neural tube defects30.2ACHE, AFP, MTHFR
4ischemia29.9ICAM1, MPO, CST3, NOS1, NOS3
5thromboembolism29.7MTHFR, F2, NOS3, F5
6hypertension29.1NPPA, NOS3, F5, MTHFR, ICAM1, CST3
7abdominal wall defect10.5
8pre-eclampsia10.5AFP
9intestinal atresia10.5
10mitral valve disease10.5NPPA
11branch retinal artery occlusion10.5F5
12sick sinus syndrome10.5NPPA
13factor xii deficiency10.5F5
14poems syndrome10.4IL6
15polyarteritis nodosa10.4MPO
16achalasia10.4ACHE, NOS1
17congenital nephrotic syndrome finnish type10.4ACHE, AFP
18hemophilia b10.4F2
19pure autonomic failure10.4ACHE, NPPA
20hepatorenal syndrome10.4F2, NPPA
21adult respiratory distress syndrome10.4SLPI, CST3
22rapidly progressive glomerulonephritis10.4ICAM1, MPO
23vitamin k deficiency hemorrhagic disease10.4F2, AFP
24stroke, ischemic10.3F5, F2
25immunoglobulin a vasculitis10.3MPO, ICAM1
26acute chest syndrome10.3NOS3
27prothrombin deficiency10.3F2, F5
28factor x deficiency10.3F5, F2
29leukostasis10.3MPO, ICAM1
30vascular disease10.3IL6, NOS1
31factor v deficiency10.3F2, F5
32huntington's disease10.3ACHE, ADD1, NOS1
33factor xi deficiency10.3F5, F2
34dysfibrinogenemia10.3F2, F5
35central retinal vein occlusion10.3F5, MTHFR
36hemorrhagic disease10.3F2, F5
37homocysteinemia10.3MTHFR, F5
38scott syndrome10.3F2, F5
39von willebrand's disease10.3F5, F2
40placental abruption10.3F5, MTHFR
41allergic rhinitis10.3MPO, ICAM1
42hepatic vein thrombosis10.3MTHFR, F5
43factor vii deficiency10.3F5, F2
44vascular dementia10.3ACHE, MTHFR, CST3
45factor viii deficiency10.3F5, F2
46retinal vein occlusion10.3MTHFR, F5
47viral hepatitis10.3AFP, F2, SLPI
48afibrinogenemia10.3F5, F2
49cerebrovascular disease10.3MTHFR, ACHE, CST3
50intracranial thrombosis10.3MTHFR, F5

Graphical network of the top 20 diseases related to Gastroschisis:



Diseases related to gastroschisis

Symptoms for Gastroschisis

About this section

Symptoms by clinical synopsis from OMIM:

230750

Clinical features from OMIM:

230750

Symptoms:

48
  • 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
3 gastroschisis HP:0001543

Drugs & Therapeutics for Gastroschisis

About this section

Drug clinical trials:

Search ClinicalTrials for Gastroschisis

Search NIH Clinical Center for Gastroschisis

Genetic Tests for Gastroschisis

About this section

Anatomical Context for Gastroschisis

About this section

MalaCards organs/tissues related to Gastroschisis:

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

Animal Models for Gastroschisis or affiliated genes

About this section

Publications for Gastroschisis

About this section

Articles related to Gastroschisis:

(show top 50)    (show all 610)
idTitleAuthorsYear
1
Anomalies associated with gastroschisis and omphalocele: analysis of 2825 cases from the Texas Birth Defects Registry. (24726103)
2014
2
Prevalence and risk factors for gastroschisis in a public hospital from west MAcxico. (25243388)
2014
3
Gastroschisis, omphalocele or something else? (23531629)
2014
4
Left-sided Gastroschisis: A Rare Congenital Anomaly. (24298510)
2013
5
Gastric contractility in experimental gastroschisis. (23414860)
2013
6
Human milk versus formula after gastroschisis repair: effects on time to full feeds and time to discharge. (23519369)
2013
7
Gastroschisis, destructive brain lesions, and placental infarction in the second trimester suggest a vascular pathogenesis. (23895144)
2013
8
Corticosteroid effect upon intestinal and hepatic interleukin profile in a gastroschisis rat model. (23381817)
2013
9
Left-sided gastroschisis with placenta findings: case report and literature review. (22558479)
2012
10
Evolution of critically ill patients with gastroschisis from three tertiary centers. (21437430)
2011
11
Assessing the trend of gastroschisis prevalence in China from 1996 to 2007 using two analytical methods. (21308975)
2011
12
Ultrasound prediction of birthweight and growth restriction in fetal gastroschisis. (20723876)
2010
13
Changes in amniotic fluid index after maternal oral hydration in pregnancies with fetal gastroschisis: initial observations. (20606383)
2010
14
Evisceration and necrosis of gall bladder and evisceration of urinary bladder in a patient of gastroschisis. (20098013)
2010
15
Benchmarking the quality of care of infants with low-risk gastroschisis using a novel risk stratification index. (20236674)
2010
16
Perinatal demography of gastroschisis in North Queensland. (21166913)
2010
17
Gastroschisis and intrauterine growth restriction. (20362958)
2010
18
Mirror image left-sided gastroschisis. (20618216)
2010
19
Gastroschisis associated with an intra-abdominal umbilical vein varix: a report of 2 cases. (19786788)
2009
20
Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis. (19419415)
2009
21
Spontaneous sutureless closure of the abdominal wall defect in gastroschisis using a commercial wound retractor system. (19705131)
2009
22
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
23
Rare case of fetal gastroschisis with aplasia of the foot and external genital organs. (18778459)
2008
24
Anaesthetic management of gastroschisis - a review of our practice over the past 5 years. (18613932)
2008
25
Novel intra-operative pulse oximetry monitoring for gastroschisis: a noninvasive monitor of intra-abdominal pressure. (18315652)
2008
26
Fetal abdominal wall repair with a collagen biomatrix in an experimental sheep model for gastroschisis. (18636946)
2008
27
Scheduled preterm delivery for gastroschisis improves postoperative outcome. (18668252)
2008
28
Non-genetic risk factors for gastroschisis. (18655102)
2008
29
Outcomes in neonatal gastroschisis: an institutional experience. (17992713)
2007
30
Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome. (17694577)
2007
31
Outcomes of pregnancies with fetal gastroschisis. (17766615)
2007
32
Splanchnic perfusion pressure: a better predictor of safe primary closure than intraabdominal pressure in neonatal gastroschisis. (16677879)
2006
33
Does gastroschisis reduction require general anesthesia? A comparative analysis. (16818066)
2006
34
Erythropoietin restores bowel damage and hypoperistalsis in gastroschisis. (16481250)
2006
35
Primary fascial closure in 112 infants with gastroschisis. (16146253)
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

About this section

Expression for genes affiliated with Gastroschisis

About this section
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

About this section

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 apoptosis37
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 events37
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling37
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 pathway37
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

About this section

Compounds related to Gastroschisis according to GeneCards/GeneDecks:

(show top 50)    (show all 221)
idCompoundScoreTop Affiliating Genes
1bivalirudin44 1110.6F5, F2, MPO
2allopurinol44 50 1111.5MPO, NOS3, NOS1, ICAM1
3apocynin44 6110.5NOS3, MPO, NOS1, ICAM1
4kininogen449.4F2, CST3, F5, NPPA, MPO
5vitamin b12449.3AFP, MTHFR, MPO, F5, CST3
68-isoprostane449.2NOS3, IL6, MPO, ICAM1
7dextran sulfate449.1IL6, ICAM1, MPO, F5
8taurine chloramine449.1IL6, F5, MPO
9homocysteine44 2410.1F2, CST3, F5, MTHFR, NOS3
10cyclophosphamide44 50 1111.0NOS3, MTHFR, F5, AFP, MPO
11methacholine44 50 1111.0NOS1, SLPI, MPO, ICAM1
12pentoxifylline44 119.9MPO, BMP6, IL6, ICAM1
13folate448.9AFP, CST3, F5, NOS1, NOS3, MTHFR
14pravastatin44 50 28 24 1112.8MTHFR, NOS3, ICAM1, NOS1, IL6
15uric acid44 249.7F5, CST3, AFP, MTHFR, SLPI
16prostacyclin448.7ICAM1, BMP6, NPPA, NOS3, F5
17aprotinin44 119.6CST3, IL6, F5, SLPI, F2
18atorvastatin44 50 28 24 1112.6ICAM1, BMP6, IL6, F5, NOS3
19epinephrine44 24 1110.6F5, NPPA, IL6, AFP, F2, BMP6
20carbachol44 28 1110.5BMP6, NOS3, NOS1, ACHE, SLPI
21aspirin44 50 28 2411.3NOS3, F5, F2, BMP6, MTHFR
22fluvastatin44 50 28 1111.3SLPI, NOS3, ICAM1, IL6
23polyethylene glycol448.3CST3, AFP, MPO, ICAM1, BMP6, F5
24hyaluronic acid44 249.2ICAM1, IL6, SLPI, F2, BMP6
25endotoxin448.1BMP6, F5, IL6, ICAM1, SLPI
26glutamate448.1F5, NOS3, BMP1, ACHE, AFP, MTHFR
27tamoxifen44 50 28 1111.1SLPI, NOS3, F2, BMP6, F5, NOS1
28simvastatin44 50 61 28 24 1113.1IL6, F2, ICAM1, AFP, NOS3, F5
29histamine44 28 2410.0BMP6, MPO, NOS1, SLPI, ICAM1, IL6
30ascorbic acid44 249.0F5, NOS1, ICAM1, NOS3, SLPI, MPO
31cisplatin44 50 61 1110.9CST3, MTHFR, MPO, SLPI, AFP, BMP6
32cholesterol44 28 24 1110.9ADD1, MTHFR, IL6, CST3, F5, SLPI
33methotrexate50 44 119.9IL6, BMP6, CST3, NOS1, NOS3, AFP
34testosterone44 61 24 1110.8MTHFR, AFP, SLPI, F5, NPPA, NOS1
35pge2447.8IL6, SLPI, MPO, NPPA, NOS1, BMP6
36vitamin d447.8AFP, MTHFR, IL6, BMP6, SLPI, NOS3
37heparin44 28 24 1110.7BMP1, BMP6, MTHFR, F2, SLPI, F5
38dexamethasone44 50 28 1110.6AFP, ICAM1, IL6, BMP6, CST3, NOS1
39fibrinogen447.6MTHFR, AFP, F2, ICAM1, IL6, CST3
40aspartate447.5MTHFR, F2, AFP, BMP1, BMP6, CST3
41calcium44 50 24 1110.3NOS3, NOS1, NPPA, SLPI, AFP, F5
42lactate447.2F5, SLPI, CST3, BMP6, IL6, MPO
43cyclosporin a44 28 619.2NPPA, F2, ICAM1, MTHFR, NOS1, IL6
44alanine446.9F2, AFP, BMP1, BMP6, CST3, F5
45nitric oxide44 24 118.8IL6, BMP6, MPO, ADD1, NOS1, F5
46estrogen446.6BMP6, IL6, MTHFR, AFP, SLPI, NPPA
47creatinine446.6SLPI, F2, AFP, IL6, NPPA, NOS1
48retinoic acid44 247.6IL6, MTHFR, SLPI, ICAM1, MPO, F5
49vegf446.5SLPI, AFP, NOS1, NOS3, NPPA, F5
50serine446.3CST3, SLPI, NOS1, F5, NOS3, BMP6

GO Terms for genes affiliated with Gastroschisis

About this section

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:01054410.0NOS3, F2
8nitric oxide biosynthetic processGO:00680910.0NOS1, NOS3
9regulation of blood vessel sizeGO:0508809.9NPPA, NOS3
10negative regulation of calcium ion transportGO:0519269.9NOS3, ICAM1
11nitric oxide mediated signal transductionGO:0072639.8NOS3, NOS1
12SMAD protein signal transductionGO:0603959.7BMP6, AFP
13response to heatGO:0094089.6IL6, NOS1, NOS3
14response to hypoxiaGO:0016669.5NPPA, NOS1, MTHFR
15regulation of cell shapeGO:0083609.5ICAM1, F2, IL6
16skeletal system developmentGO:0015019.2BMP1, AEBP1, BMP6
17cell adhesionGO:0071558.8ACHE, F5, ICAM1, AEBP1
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:0346179.9NOS3, NOS1
4cadmium ion bindingGO:0468709.8NOS1, NOS3
5NADPH-hemoprotein reductase activityGO:0039589.8NOS1, NOS3
6FMN bindingGO:0101819.7NOS1, NOS3
7NADP bindingGO:0506619.6MTHFR, NOS1, NOS3
8flavin adenine dinucleotide bindingGO:0506609.5MTHFR, NOS1, NOS3
9cytokine activityGO:0051259.2BMP1, BMP6, IL6
10heme bindingGO:0200379.2MPO, NOS3, NOS1
11growth factor activityGO:0080839.1F2, IL6, BMP1, BMP6
12calmodulin bindingGO:0055169.1NOS3, NOS1, ADD1, AEBP1

Products for genes affiliated with Gastroschisis

About this section
  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet