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MCID: GST009
MIFTS: 53

Gastroschisis

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Gastroschisis

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MalaCards integrated aliases for Gastroschisis:

Name: Gastroschisis 57 12 20 58 54 44 15 39 17 70 32
Laparoschisis 20 58
Congenital Fissure of the Abdominal Cavity 20

Characteristics:

Orphanet epidemiological data:

58
gastroschisis
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-9/100000 (Hungary),1-5/10000 (Ireland),1-9/100000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-5/10000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive vs. multifactorial


HPO:

31
gastroschisis:
Inheritance autosomal recessive inheritance multifactorial inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare gastroenterological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:11044
OMIM® 57 230750
ICD9CM 34 756.73
MeSH 44 D020139
NCIt 50 C84725
SNOMED-CT 67 72951007
ICD10 32 Q79.3
MESH via Orphanet 45 D020139
ICD10 via Orphanet 33 Q79.3
UMLS via Orphanet 71 C0265706
Orphanet 58 ORPHA2368
MedGen 41 C0265706
SNOMED-CT via HPO 68 258211005
UMLS 70 C0265706
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Summaries for Gastroschisis

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GARD : 20 Gastroschisis is a birth defect that occurs when a baby's intestines extend outside of the body through a hole next to the belly button. This type of defect is known as an abdominal wall defect. Sometimes other organs are also involved. The exact cause of a gastroschisis is usually not known, but it is more common in babies born to young mothers or to mothers who may have used alcohol or tobacco during their pregnancies. Gastroschisis is typically diagnosed on routine ultrasound examinations before a baby is born. These babies may need to be born in hospitals with specialists who are experienced in treating gastroschisis. Treatment includes a special kind of surgery that gradually returns the intestines to the abdomen ( silo repair ). Prognosis depends primarily on the degree of injury to the bowel, and on the presence of other birth defects. Though long-term outcomes for babies born with simple gastroschisis are generally good, some children may have problems with digestion later in life. Complications from gastroschisis can include intestinal problems, breathing difficulties, and infection. Some cases of gastroschisis may resolve in utero, with closure of the hole of the abdominal wall, resulting in strangulation and destruction of the herniated bowel (vanishing gastroschisis or vanishing gut syndrome ), and very short-bowel syndrome. Other complications include incomplete bowel ( atresia ), destruction ( necrosis ), perforation or twisting (volvulos). The prognosis of these cases is poor, but detecting these problems during pregnancy ( antenatal diagnosis ) and having fetal intervention may improve the outcome in the future.

MalaCards based summary : Gastroschisis, also known as laparoschisis, is related to ileus and omphalocele. An important gene associated with Gastroschisis is AEBP1 (AE Binding Protein 1), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and NF-KappaB Family Pathway. The drugs Glycerol and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skin, and related phenotypes are gastroschisis and intestinal atresia

OMIM® : 57 Gastroschisis is a congenital defect of the abdominal wall that occurs laterally to, and often to the right of, a normally closed umbilical ring. Visceral organs that herniate through the defect are not covered by a membrane. Gastroschisis is distinct from omphalocele (164750), which is characterized by herniation of abdominal contents through the base of the umbilical cord; in omphalocele, the visceral organs are covered by membranes (summary by Mastroiacovo et al., 2007). Both omphalocele and gastroschisis, when they occur without other malformations, are probably multifactorial (Baird and MacDonald, 1981). (230750) (Updated 05-Apr-2021)

Wikipedia : 73 Gastroschisis is a birth defect in which the baby's intestines extend outside of the abdomen through a... more...

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Related Diseases for Gastroschisis

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

(show top 50) (show all 400)
# Related Disease Score Top Affiliating Genes
1 ileus 30.9 IL6 IL1B F2
2 omphalocele 30.5 TGFB3 MTHFR BMP1 AFP ACHE
3 peritonitis 30.1 IL6 IL1B ICAM1 F2
4 thrombophilia due to thrombin defect 30.0 MTHFR F5 F2
5 acute kidney failure 29.9 NPPA F2 CST3
6 pericardial effusion 29.9 NPPA IL6 F2
7 acute cystitis 29.9 IL6 IL1B F2 CST3
8 disseminated intravascular coagulation 29.9 IL6 F5 F2
9 persistent fetal circulation syndrome 29.8 NOS3 IL6 IL1B
10 preterm premature rupture of the membranes 29.7 MMP1 IL6 IL1B
11 placental insufficiency 29.7 IL6 F2 AFP
12 pulmonary hypertension 29.7 NPPA NOS3 IL6 IL1B F2 BMP6
13 bilirubin metabolic disorder 29.6 IL6 IL1B F2 CYP1A2 AFP
14 anencephaly 29.6 MTHFR AFP ACHE
15 respiratory failure 29.4 NPPA IL6 IL1B ICAM1 F2 ACHE
16 neural tube defects 29.2 TGFB3 MTHFR CYP1A2 AFP ACHE
17 cerebral palsy 29.1 NOS3 MTHFR MMP1 IL6 IL1B F5
18 deficiency anemia 28.8 NPPA IL6 F5 F2 CYP1A1 CST3
19 pre-eclampsia 28.2 TGFB3 NPPA NOS3 MTHFR IL6 IL1B
20 diabetes mellitus 27.1 NPPA NOS3 MTHFR MMP1 IL6 IL1B
21 abdominal wall defect 11.7
22 omphalocele, autosomal 11.1
23 paraomphalocele 10.9
24 intestinal atresia 10.7
25 enterocolitis 10.6
26 perinatal necrotizing enterocolitis 10.6
27 short bowel syndrome 10.5
28 volvulus of midgut 10.5
29 paracetamol poisoning 10.4 F5 F2
30 amaurosis fugax 10.4 MTHFR F5
31 lateral sinus thrombosis 10.4 MTHFR F2
32 hemifacial spasm 10.4 NOS3 MTHFR
33 aspirin resistance 10.4 F5 F2
34 prothrombin thrombophilia 10.4 MTHFR F2
35 compartment syndrome 10.4
36 lemierre's syndrome 10.4 MTHFR F2
37 livedoid vasculitis 10.3 MTHFR F2
38 umbilical hernia 10.3
39 intestinal obstruction 10.3
40 spinal cord infarction 10.3 MTHFR F5 F2
41 eclampsia 10.3 NOS3 MTHFR F2
42 cerebral sinovenous thrombosis 10.3 MTHFR F5 F2
43 cryptogenic cirrhosis 10.3 MTHFR F5 F2
44 beta-thalassemia major 10.3 MTHFR F5 F2
45 intracranial thrombosis 10.3 MTHFR F5 F2
46 thrombophlebitis 10.3 MTHFR F5 F2
47 thrombasthenia 10.3 MTHFR F5 F2
48 antithrombin iii deficiency 10.3 MTHFR F5 F2
49 thrombophilia due to activated protein c resistance 10.3 MTHFR F5 F2
50 catastrophic antiphospholipid syndrome 10.3 MTHFR F5

Graphical network of the top 20 diseases related to Gastroschisis:



Diseases related to Gastroschisis
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Symptoms & Phenotypes for Gastroschisis

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Human phenotypes related to Gastroschisis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastroschisis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001543
2 intestinal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0011100
3 abnormality of mesentery morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0100016
4 abdominal wall defect 31 HP:0010866

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen:
gastroschisis
anterior abdominal wall defect

Clinical features from OMIM®:

230750 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Gastroschisis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 9.02 ADD1 AFP CYP1A1 F5 MTHFR

MGI Mouse Phenotypes related to Gastroschisis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.32 ACHE ADD1 AEBP1 AFP BMP1 CST3
2 growth/size/body region MP:0005378 10.25 ACHE ADD1 AEBP1 BMP1 BMP6 CYP1A1
3 cardiovascular system MP:0005385 10.21 ACHE AEBP1 BMP1 CST3 F2 F5
4 mortality/aging MP:0010768 10.16 ACHE ADD1 AEBP1 AFP BMP1 CST3
5 liver/biliary system MP:0005370 9.92 AEBP1 AFP CYP1A1 CYP1A2 F5 IL6
6 muscle MP:0005369 9.76 ACHE BMP1 CST3 F2 ICAM1 IL6
7 neoplasm MP:0002006 9.5 AFP CST3 CYP1A2 ICAM1 IL1B IL6
8 nervous system MP:0003631 9.36 ACHE ADD1 CST3 F2 F5 ICAM1
Sources

Drugs & Therapeutics for Gastroschisis

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Drugs for Gastroschisis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 4 56-81-5 753
2 Protective Agents Phase 4
3
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
4
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
5 Fat Emulsions, Intravenous Phase 2, Phase 3
6 Omega 3 Fatty Acid Phase 2, Phase 3
7
Bilirubin Phase 2, Phase 3 635-65-4 5280352
8 Liver Extracts Phase 2, Phase 3
9 Gastrointestinal Agents Phase 3
10 Neurotransmitter Agents Phase 3
11 Dopamine Agents Phase 3
12 Antiemetics Phase 3
13 Dopamine Antagonists Phase 3
14
Glucagon Approved Phase 1, Phase 2 16941-32-5
15 Hormone Antagonists Phase 1, Phase 2
16 Glucagon-Like Peptide 1 Phase 1, Phase 2
17 Incretins Phase 1, Phase 2
18 Hormones Phase 1, Phase 2
19
Sodium oxybate Approved 502-85-2 5360545
20 Bifidobacterium
21 Antibiotics, Antitubercular
22 Anesthetics
23 Anti-Bacterial Agents
24 Fluorides
25 Dialysis Solutions Early Phase 1
26 Pharmaceutical Solutions

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Evaluation of Routine Administration of Glycerin Suppositories to Improve Bowel Function in Patients With Uncomplicated Gastroschisis Recruiting NCT03355326 Phase 4 Glycerin Suppository
2 The Use of Gastrografin to Help Alleviate Bowel Obstruction Related to Poor Bowel Motility in Gastroschisis Patients. Withdrawn NCT03334578 Phase 4 Gastrografin
3 Randomized Trial of AMNIOECHANGE in Gastroschisis Affected Foetuses Unknown status NCT00127946 Phase 3
4 Fish Oil Lipid Emulsion for the Treatment of Parenteral-Nutrition-Associated Liver Disease in Infants Completed NCT02370251 Phase 2, Phase 3 Omegaven
5 Gastroschisis Outcomes of Delivery (GOOD) Study Recruiting NCT02774746 Phase 3
6 The Use of Metoclopramide vs. Placebo in Infants With Gastroschisis. A Pilot Double Blind Randomized Controlled Trial Terminated NCT02098915 Phase 3 intravenous metoclopramide
7 A Multi-Centre, Prospective Randomized Trial to Evaluate Routine Use of a Silastic Spring-Loaded Silo for Infants With Gastroschisis Completed NCT00539292 Phase 2
8 Phase 1-2 Trial of Glucagon-like Peptide 2 (GLP-2) in Infants and Children With Intestinal Failure Terminated NCT01573286 Phase 1, Phase 2 Glucagon-Like Peptide 2;Glucagon like peptide-2
9 The Effect of Music Therapy On Infants Born With Gastroschisis Unknown status NCT01469208
10 Bedside Silo Versus Attempted Operative Closure for Gastroschisis Completed NCT01506531
11 Regional Haemoglobin Oxygen Saturation in the Splanchnic Circulation in Neonates With Gastroschisis; Quantifying and Qualifying the Role for Routine Monitoring Completed NCT03533439
12 Paediatric Surgery Across Sub-Saharan Africa: A Multi-Centre Prospective Cohort Study Completed NCT03185637
13 Probiotics in Infants With Gastroschisis Completed NCT01316510
14 Clinical and Biological Outcomes of Human Milk and Formula Intake After Gastroschisis Repair Completed NCT02575846
15 Health Related Quality of Life of Patients With Abdominal Wall Defects Completed NCT03960320
16 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
17 Pilot Study on Sham Feeding in Post-operative Gastrointestinal Surgery Infants Completed NCT03350022
18 Sonographic Assessment of the Diaphragm After Plication in Adults With Unilateral Eventration: a Two-centre Experience Completed NCT04052295
19 The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery. Completed NCT04020939 Indocyanine Green
20 Developing and Implementing an Interventional Bundle to Reduce Mortality From Gastroschisis in Low-Resource Settings Recruiting NCT03724214
21 Neurodevelopmental Outcomes and Growth in Infants With Congenital Gastrointestinal Anomalies Requiring Neonatal Surgery Recruiting NCT04575649
22 Oral Care: An Important Adjunctive Therapy to Improve Feeding Tolerance in Infants With Gastroschisis Recruiting NCT03393832
23 Utility of a Supraaponeurotic Mesh as Prophylaxis of the Midline Eventration After an Oncological Colorrectal Resection Recruiting NCT03520465
24 Fetal Electrophysiologic Abnormalities in High-risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
25 Prospective Study of Antenatal Diagnostic Criteria for Digestive Complications of Gastroschisis Not yet recruiting NCT04174807
26 Timing of Stoma Closure in Neonates (ToSCiN) Not yet recruiting NCT04713579
27 Ostomy in Continuity or Conventional Ileostomy for Complex Pediatric Intestinal Diseases: a Retrospective Multicentric Analysis Not yet recruiting NCT04213976
28 Functional Magnetic Resonance Imaging - Blood Oxygenation Level Dependent (MRI-BOLD) of the Feta Lung in Congenital Diaphragmatic and Parietal Malformations Not yet recruiting NCT04186039
29 Early Delivery in Fetal Gastroschisis: a Randomized Controlled Trial of Elective Early Delivery Versus Routine Obstetrical Care Terminated NCT01884324
30 Bedside Silo Versus Attempted Operative Closure for Gastroschisis: A Pilot Study Terminated NCT00404690
31 Sutureless vs Sutured Gastroschisis Closure Terminated NCT01094587
32 Direct Peritoneal Resuscitation in Gastroschisis Terminated NCT03205553 Early Phase 1 Investigational Treatment Group
33 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815

Search NIH Clinical Center for Gastroschisis

Cochrane evidence based reviews: gastroschisis

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Genetic Tests for Gastroschisis

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Anatomical Context for Gastroschisis

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MalaCards organs/tissues related to Gastroschisis:

40
Liver, Heart, Skin, Testis, Smooth Muscle, Small Intestine, Colon
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Publications for Gastroschisis

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Articles related to Gastroschisis:

(show top 50) (show all 2462)
# Title Authors PMID Year
1
Gastroschisis and associated defects: an international study. 57 20 61
17357116 2007
2
Familial cases of gastroschisis in a population-based registry. 20 61 57
8465852 1993
3
Gastroschisis: a gene-environment model involving the VEGF-NOS3 pathway. 57 61
18655103 2008
4
Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research. 57 61
17230493 2007
5
Novel risk factor in gastroschisis: change of paternity. 57 61
17163540 2007
6
Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis. 57 61
17051589 2006
7
Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. 61 57
8533813 1995
8
Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. 61 57
7802013 1994
9
Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. 61 57
1481831 1992
10
Familial abdominal wall defects. 57 61
2530900 1989
11
Familial gastroschisis and omphalocele. 57 61
6211093 1982
12
An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. 61 57
6454342 1981
13
Familial occurrence of gastroschisis. Four new cases and review of the literature. 57 61
155396 1979
14
Closed gastroschisis, vanishing midgut and extreme short bowel syndrome: Case report and review of the literature. 61 20
27867410 2016
15
Outcome differences between simple and complex gastroschisis. 61 20
27845942 2016
16
Fetal abdominal wall defects. 20 61
24342556 2014
17
Gastroschisis--what should be told to parents? 20 61
24375446 2014
18
Alterations of enteric nerve plexus in experimental gastroschisis: is there a delay in the maturation? 61 54
14577076 2003
19
Scanning gel densitometry of amniotic fluid acetylcholinesterase and butyrylcholinesterase: quantification of 'faint-positive' bands in fetal malformations. 61 54
7647148 1995
20
The association between 'faint-positive' amniotic fluid acetylcholinesterase and fetal malformations. 61 54
8140072 1993
21
Amniotic fluid acetylcholinesterase is found in gastroschisis but not omphalocele. 54 61
8240688 1993
22
Routine first-trimester ultrasound screening using a standardized anatomical protocol. 61
33127430 2021
23
Estimating Length of Stay for Simple Gastroschisis. 61
33338888 2021
24
New insights into the obligatory nature of cyclooxygenase-2 and PGE2 during early chick embryogenesis. 61
33454433 2021
25
Simplified preformed silo bag crafted from standard equipment in African Hospitals. 61
33642416 2021
26
Fetal abdominal wall defects in an Australian tertiary setting: contemporary characteristics, ultrasound accuracy, and outcome. 61
31242785 2021
27
Fetal gastroschisis: Maternal and fetal methylation profile. 61
33332636 2021
28
Identifying prenatal ultrasound predictors and the ideal neonatal management of closing gastroschisis: the key is prevention. 61
33790403 2021
29
Regional variation in gastroschisis: a nationwide database review of demographics and outcomes. 61
33787981 2021
30
Influence of birthplace on gastroschisis outcomes in a state in the southeastern region of Brazil. 61
33773959 2021
31
The association between fluid restriction and hyponatremia in newborns with gastroschisis. 61
33714519 2021
32
Transition of care in a case of obesity with metabolic surgery. 61
33684957 2021
33
Neonatal surgical outcomes: a prospective observational study at a Tertiary Academic Hospital in Johannesburg, South Africa. 61
33740107 2021
34
Birth defects and unconventional natural gas developments in Texas, 1999-2011. 61
33245885 2021
35
Birth prevalence of congenital anomalies in Argentina, according to socioeconomic level. 61
33786756 2021
36
Long-term hospital admissions and surgical treatment of children with congenital abdominal wall defects: a population-based study. 61
33666724 2021
37
How can we improve perinatal care in isolated multiple intestinal atresia? A retrospective study with a 30-year literature review. 61
33674188 2021
38
Prepare for the Rare: Innovation Simulation for Managing Abdominal Wall Defects. 61
33731376 2021
39
Comparative analysis of perinatal outcomes and birth defects amongst adolescent and older Ugandan mothers: evidence from a hospital-based surveillance database. 61
33663555 2021
40
Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects. 61
33569925 2021
41
Percutaneous peritoneal drain placement: A pilot study of pediatric surgery simulation-based training for general surgery residents. 61
33714453 2021
42
Incisional hernia after abdominal surgery in infants: A retrospective analysis of incidence and risk factors. 61
33618851 2021
43
What is the main factor in predicting the morbidity and mortality in patients with Gastroschisis: Delivery time, delivery mode, closure method, or the type of Gastroschisis (simple or complex)? 61
33550767 2021
44
Pediatric Surgery Simulation-Based Training for the General Surgery Resident. 61
32561030 2021
45
Prenatal diagnosis of intestinal nonrotation using magnetic resonance imaging: Is it possible? 61
33608743 2021
46
Growth Failure Prevalence in Neonates with Gastroschisis : A Statewide Cohort Study. 61
33647253 2021
47
Fetoscopic techniques for prenatal covering of gastroschisis in an ovine model are technically demanding and do not lead to permanent anchoring on the fetus until the end of gestation. 61
32072287 2021
48
Near-infrared spectroscopy (NIRS) measured tissue oxygenation in neonates with gastroschisis: a pilot study. 61
33602021 2021
49
The association of perinatal and clinical factors with outcomes in infants with gastroschisis-a retrospective multicenter study in Finland. 61
33532890 2021
50
It Is Complex: Predicting Gastroschisis Outcomes Using Prenatal Imaging. 61
33051061 2021
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Variations for Gastroschisis

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Expression for Gastroschisis

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Search GEO for disease gene expression data for Gastroschisis.
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Pathways for Gastroschisis

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Pathways related to Gastroschisis according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.08 TGFB3 NOS3 MMP1 IL6 IL1B ICAM1
2
NF-KappaB Family Pathway 63
Show member pathways
 12.59 TGFB3 IL6 IL1B BMP6 BMP1
3
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.16 TGFB3 IL6 IL1B BMP6 BMP1
4
Folate Metabolism 1
Show member pathways
 12.16 MTHFR IL6 IL1B ICAM1 F2
5
Interleukin-4 and 13 signaling 65
11.84 MMP1 IL6 IL1B ICAM1
6
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.77 TGFB3 IL6 BMP6
7
Th17 Differentiation Pathway 64
Show member pathways
 11.73 TGFB3 IL6 IL1B
8
Glucocorticoid receptor regulatory network 1
11.62 MMP1 IL6 ICAM1 AFP
9
IgA-Producing B Cells in the Intestine 64
11.58 TGFB3 IL6 ICAM1
10
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.47 MMP1 IL6 IL1B ICAM1
11
Interleukin-10 signaling 65
11.43 IL6 IL1B ICAM1
12
Aryl Hydrocarbon Receptor Pathway 1
11.42 IL1B CYP1A2 CYP1A1
13
AGE-RAGE signaling pathway in diabetic complications 36
11.35 TGFB3 NOS3 IL6 IL1B ICAM1
14
Melatonin metabolism and effects 1
11.27 CYP1A2 CYP1A1 ACHE
15
Malaria 36
11.26 TGFB3 IL6 IL1B ICAM1
16
Validated transcriptional targets of AP1 family members Fra1 and Fra2 1
11.22 NOS3 MMP1 IL6
17
Antifolate resistance 36
11.16 MTHFR IL6 IL1B
18
IL1 and megakaryocytes in obesity 1
11.03 IL1B ICAM1 F2
19
African trypanosomiasis 36
11.02 NPPA IL6 IL1B ICAM1
20
Rheumatoid arthritis 36
10.99 TGFB3 MMP1 IL6 IL1B ICAM1
21
G-protein signaling_Rap2B regulation pathway 23
10.89 TGFB3 IL6 IL1B BMP6 BMP1
22
Estrogen Receptor Pathway 1
10.72 CYP1A2 CYP1A1
23
IL-9 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types 64
10.58 TGFB3 IL6 IL1B
Sources

GO Terms for Gastroschisis

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Cellular components related to Gastroschisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.77 TGFB3 NPPA MMP1 IL6 IL1B F5
2 collagen-containing extracellular matrix GO:0062023 9.65 TGFB3 NPPA ICAM1 F2 AEBP1
3 endoplasmic reticulum lumen GO:0005788 9.55 IL6 F5 F2 CST3 AFP
4 extracellular space GO:0005615 9.44 TGFB3 NPPA IL6 IL1B ICAM1 F5

Biological processes related to Gastroschisis according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.97 TGFB3 IL6 IL1B F2 BMP6
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.75 IL6 ICAM1 BMP6
3 cellular response to mechanical stimulus GO:0071260 9.72 NPPA IL1B BMP6
4 SMAD protein signal transduction GO:0060395 9.65 TGFB3 BMP6 AFP
5 positive regulation of neuroinflammatory response GO:0150078 9.56 IL6 IL1B
6 response to hypoxia GO:0001666 9.55 TGFB3 NPPA MTHFR ICAM1 CYP1A1
7 omega-hydroxylase P450 pathway GO:0097267 9.54 CYP1A2 CYP1A1
8 positive regulation of protein secretion GO:0050714 9.54 TGFB3 BMP6 ACHE
9 hydrogen peroxide biosynthetic process GO:0050665 9.52 CYP1A2 CYP1A1
10 negative regulation of platelet activation GO:0010544 9.51 NOS3 F2
11 positive regulation of epithelial to mesenchymal transition GO:0010718 9.5 TGFB3 IL6 IL1B
12 toxin metabolic process GO:0009404 9.49 CYP1A2 CYP1A1
13 heterocycle metabolic process GO:0046483 9.46 CYP1A2 CYP1A1
14 vascular endothelial growth factor production GO:0010573 9.43 IL6 IL1B
15 porphyrin-containing compound metabolic process GO:0006778 9.4 CYP1A2 CYP1A1
16 response to lipopolysaccharide GO:0032496 9.35 NOS3 IL1B ICAM1 CYP1A2 CYP1A1
17 dibenzo-p-dioxin metabolic process GO:0018894 9.26 CYP1A2 CYP1A1
18 cellular protein metabolic process GO:0044267 9.17 NPPA MMP1 IL6 F5 F2 CST3

Molecular functions related to Gastroschisis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.35 TGFB3 IL6 IL1B BMP6 BMP1
2 estrogen 16-alpha-hydroxylase activity GO:0101020 9.32 CYP1A2 CYP1A1
3 demethylase activity GO:0032451 9.26 CYP1A2 CYP1A1
4 estrogen 2-hydroxylase activity GO:0101021 9.16 CYP1A2 CYP1A1
5 growth factor activity GO:0008083 9.02 TGFB3 IL6 F2 BMP6 BMP1
Sources

Sources for Gastroschisis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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