Abdominal Wall Defect

Categories: Gastrointestinal diseases, Respiratory diseases

Aliases & Classifications for Abdominal Wall Defect

Summaries for Abdominal Wall Defect

MedlinePlus Genetics : 43 An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele and gastroschisis. Omphalocele is an opening in the center of the abdominal wall where the umbilical cord meets the abdomen. Organs (typically the intestines, stomach, and liver) protrude through the opening into the umbilical cord and are covered by the same protective membrane that covers the umbilical cord. Gastroschisis is a defect in the abdominal wall, usually to the right of the umbilical cord, through which the large and small intestines protrude (although other organs may sometimes bulge out). There is no membrane covering the exposed organs in gastroschisis.Fetuses with omphalocele may grow slowly before birth (intrauterine growth retardation) and they may be born prematurely. Individuals with omphalocele frequently have multiple birth defects, such as a congenital heart defect. Additionally, underdevelopment of the lungs is often associated with omphalocele because the abdominal organs normally provide a framework for chest wall growth. When those organs are misplaced, the chest wall does not form properly, providing a smaller than normal space for the lungs to develop. As a result, many infants with omphalocele have respiratory insufficiency and may need to be supported with a machine to help them breathe (mechanical ventilation). Rarely, affected individuals who have breathing problems in infancy experience recurrent lung infections or asthma later in life. Affected infants often have gastrointestinal problems including a backflow of stomach acids into the esophagus (gastroesophageal reflux) and feeding difficulty; these problems can persist even after treatment of omphalocele. Large omphaloceles or those associated with multiple additional health problems are more often associated with fetal death than cases in which omphalocele occurs alone (isolated).Omphalocele is a feature of many genetic syndromes. Nearly half of individuals with omphalocele have a condition caused by an extra copy of one of the chromosomes in each of their cells (trisomy). Up to one-third of people born with omphalocele have a genetic condition called Beckwith-Wiedemann syndrome. Affected individuals may have additional signs and symptoms associated with these genetic conditions.Individuals who have gastroschisis rarely have other birth defects and seldom have chromosome abnormalities or a genetic condition. Most affected individuals experience intrauterine growth retardation and are small at birth; many affected infants are born prematurely.With gastroschisis, the protruding organs are not covered by a protective membrane and are susceptible to damage due to direct contact with amniotic fluid in the womb. Components of the amniotic fluid may trigger immune responses and inflammatory reactions against the intestines that can damage the tissue. Constriction around exposed organs at the abdominal wall opening late in fetal development may also contribute to organ injury. Intestinal damage causes impairment of the muscle contractions that move food through the digestive tract (peristalsis) in most children with gastroschisis. In these individuals, peristalsis usually improves in a few months and intestinal muscle contractions normalize. Rarely, children with gastroschisis have a narrowing or absence of a portion of intestine (intestinal atresia) or twisting of the intestine. After birth, these intestinal malformations can lead to problems with digestive function, further loss of intestinal tissue, and a condition called short bowel syndrome that occurs when areas of the small intestine are missing, causing dehydration and poor absorption of nutrients. Depending on the severity of the condition, intravenous feedings (parenteral nutrition) may be required.The health of an individual with gastroschisis depends largely on how damaged his or her intestine was before birth. When the abdominal wall defect is repaired and normal intestinal function is recovered, the vast majority of affected individuals have no health problems related to the repaired defect later in life.

MalaCards based summary : Abdominal Wall Defect, also known as gastroschisis, is related to omphalocele, autosomal and omphalocele. An important gene associated with Abdominal Wall Defect is GJB2 (Gap Junction Protein Beta 2). The drugs Ketorolac and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and colon, and related phenotype is no phenotypic analysis.

Wikipedia : 74 Abdominal wall defects are a type of congenital defect that allows the stomach, the intestines, or other... more...

Related Diseases for Abdominal Wall Defect

Diseases related to Abdominal Wall Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 414)
# Related Disease Score Top Affiliating Genes
1 omphalocele, autosomal 31.4 PLOD1 GJB2
2 omphalocele 31.3 PLOD1 GJB2
3 omphalocele, x-linked 30.9 PLOD1 GJB2
4 shprintzen omphalocele syndrome 11.6
5 omphalocele-cleft palate syndrome, lethal 11.6
6 oeis complex 11.4
7 gastroschisis 11.2
8 omphalocele, diaphragmatic hernia, and radial ray defects 11.2
9 hydrocephalus with associated malformations 11.2
10 pagod syndrome 11.2
11 cloacal exstrophy 11.1
12 manitoba oculotrichoanal syndrome 11.1
13 beckwith-wiedemann syndrome 11.1
14 otopalatodigital syndrome, type ii 11.0
15 donnai-barrow syndrome 11.0
16 scarf syndrome 11.0
17 bladder exstrophy and epispadias complex 11.0
18 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 11.0
19 paraomphalocele 10.9
20 diaphragmatic agenesis radial aplasia omphalocele 10.9
21 familial omphalocele syndrome with facial dysmorphism 10.9
22 miller-dieker lissencephaly syndrome 10.9
23 boomerang dysplasia 10.8
24 acrocephalopolydactylous dysplasia 10.8
25 fibrochondrogenesis 10.8
26 schisis association 10.8
27 hypertelorism, teebi type 10.8
28 3mc syndrome 3 10.8
29 3mc syndrome 1 10.8
30 3mc syndrome 2 10.8
31 robinow syndrome, autosomal recessive 2 10.8
32 genitourinary and/or brain malformation syndrome 10.8
33 developmental and epileptic encephalopathy 89 10.8
34 froster-huch syndrome 10.8
35 ichthyosis follicularis atrichia photophobia syndrome 10.8
36 methimazole antenatal exposure 10.8
37 enterocolitis 10.6
38 perinatal necrotizing enterocolitis 10.6
39 oligohydramnios 10.3
40 polyhydramnios 10.3
41 cholestasis 10.3
42 neural tube defects 10.3
43 desmoid tumor 10.2
44 colonic atresia 10.2
45 liver disease 10.2
46 chromosomal triplication 10.2
47 bladder exstrophy 10.1
48 fibromatosis 10.1
49 cryptorchidism, unilateral or bilateral 10.1
50 urinary tract infection 10.1

Graphical network of the top 20 diseases related to Abdominal Wall Defect:

Diseases related to Abdominal Wall Defect

Symptoms & Phenotypes for Abdominal Wall Defect

MGI Mouse Phenotypes related to Abdominal Wall Defect:

# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.62 GJB2 PLOD1

Drugs & Therapeutics for Abdominal Wall Defect

Drugs for Abdominal Wall Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
Morphine Approved, Investigational Phase 4 57-27-2 5288826
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
Glycerol Approved, Investigational Phase 4 56-81-5 753
7 Ketorolac Tromethamine Phase 4
8 Anesthetics, Local Phase 4
9 Antibiotics, Antitubercular Phase 4
10 Anti-Bacterial Agents Phase 4
11 Anti-Infective Agents Phase 4
12 Amoxicillin-Potassium Clavulanate Combination Phase 4
13 Protective Agents Phase 4
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
16 Liver Extracts Phase 2, Phase 3
Bilirubin Phase 2, Phase 3 635-65-4 5280352
18 Omega 3 Fatty Acid Phase 2, Phase 3
19 Fat Emulsions, Intravenous Phase 2, Phase 3
20 Dopamine Agents Phase 3
21 Dopamine Antagonists Phase 3
22 Neurotransmitter Agents Phase 3
23 Gastrointestinal Agents Phase 3
24 Antiemetics Phase 3
Abatacept Approved Phase 2 332348-12-6 10237
Acetaminophen Approved Phase 2 103-90-2 1983
Oxycodone Approved, Illicit, Investigational Phase 2 76-42-6 5284603
Ibuprofen Approved Phase 2 15687-27-1 3672
Glucagon Approved Phase 1, Phase 2 16941-32-5
30 Immunologic Factors Phase 2
31 Immunosuppressive Agents Phase 2
32 Anti-Inflammatory Agents Phase 2
33 Analgesics, Non-Narcotic Phase 2
34 Cyclooxygenase Inhibitors Phase 2
35 Anti-Inflammatory Agents, Non-Steroidal Phase 2
36 Analgesics, Opioid Phase 2
37 Analgesics Phase 2
38 Antirheumatic Agents Phase 2
39 Narcotics Phase 2
40 Antipyretics Phase 2
41 Hormone Antagonists Phase 1, Phase 2
42 Hormones Phase 1, Phase 2
43 Glucagon-Like Peptide 1 Phase 1, Phase 2
44 Incretins Phase 1, Phase 2
Sodium oxybate Approved 502-85-2 5360545
Prednisone Approved, Vet_approved Early Phase 1 53-03-2 5865
Mycophenolic acid Approved Early Phase 1 24280-93-1 446541
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 445643 439492 6473866
Remifentanil Approved 132875-61-7 60815
Neostigmine Approved, Vet_approved 59-99-4 4456

Interventional clinical trials:

(show top 50) (show all 86)
# Name Status NCT ID Phase Drugs
1 Results of Open Mesh Versus Suture Repair in Treatment of Abdominal Wall (Multicentric, Prospective, Randomised, Internet-based, Clinical Trial) Completed NCT01018524 Phase 4
2 Liposomal Bupivacaine (Exparel) for Postoperative Pain Control for Open and Laparoscopic Abdominal Hernia Repair Completed NCT02128646 Phase 4 EXPAREL;Ketorolac
3 Evaluation of the Safety and Efficacy of EXPAREL® When Infiltrated Into the Transversus Abdominis Plane (TAP) for Prolonged Postoperative Analgesia in Subjects Undergoing Unilateral Abdominal Hernia Repair Completed NCT01801124 Phase 4 EXPAREL
4 Assistance Robotics for the Surgical Treatment of the Abdominal Wall Hernia Completed NCT00908193 Phase 4
5 Prophylaxis of Surgical Wound Infection With Topical Antibiotics Recruiting NCT04476212 Phase 4
6 Evaluation of Routine Administration of Glycerin Suppositories to Improve Bowel Function in Patients With Uncomplicated Gastroschisis Recruiting NCT03355326 Phase 4 Glycerin Suppository
7 A Multicenter, Prospective, Single-Blind, Randomized, Controlled Study of the Repair of Challenging Abdominal Wall Defects: Strattice(TM) TM in Abdominal Wall Repair Terminated NCT01083472 Phase 4
8 The Use of Gastrografin to Help Alleviate Bowel Obstruction Related to Poor Bowel Motility in Gastroschisis Patients. Withdrawn NCT03334578 Phase 4 Gastrografin
9 Randomized Trial of AMNIOECHANGE in Gastroschisis Affected Foetuses Unknown status NCT00127946 Phase 3
10 Fish Oil Lipid Emulsion for the Treatment of Parenteral-Nutrition-Associated Liver Disease in Infants Completed NCT02370251 Phase 2, Phase 3 Omegaven
11 Gastroschisis Outcomes of Delivery (GOOD) Study Recruiting NCT02774746 Phase 3
12 The Use of Metoclopramide vs. Placebo in Infants With Gastroschisis. A Pilot Double Blind Randomized Controlled Trial Terminated NCT02098915 Phase 3 intravenous metoclopramide
13 A Multi-Centre, Prospective Randomized Trial to Evaluate Routine Use of a Silastic Spring-Loaded Silo for Infants With Gastroschisis Completed NCT00539292 Phase 2
14 Abdominal Wall Transplantation for the Reconstruction of Abdominal Wall Defects as Adjunct to Abdominal Solid Organ Transplantation Recruiting NCT03310905 Phase 2 Belatacept 5mg/kg IV monthly
15 The Effect of Multimodal Pain Therapy After Hernia Repair Not yet recruiting NCT03792295 Phase 2 acetominophen, ibuprofen, oxycodone;Oxycodone
16 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
17 To Examine the Feasibility of Using Permacol® Surgical Implant in the Repair of Abdominal Wall Defects After Removal of Chronic Infect Prosthetic Mesh Terminated NCT00820040 Phase 2
18 An Open-label, Single-arm, Phase 1 Study Examining the Safety and Efficacy of Fibrin Sealant Plus Silver Microparticles to Prevent Incisional Hernias (HiP_1 Trial) Following Abdominal Surgery Withdrawn NCT02584153 Phase 1 Fibrin Sealant;Silver Microparticles
19 Repair of Complex Recurrent Incisional Hernias With The Bony Anchoring Reinforcement System (BARS) Unknown status NCT01644695
20 Case-control Study of Mesh-infection After a Size Tailored Hernia Repair With C-Qur V-Patch Unknown status NCT01761708
21 Post-Operative Pain After Laparoscopic Ventral Hernia Repair, Impact of Mesh Impregnation With Bupivacaine Solution vs. Normal Saline Solution Unknown status NCT03035617 Bupivacaine
22 A Randomized, Prospective, Double Blind Clinical Trial of Non-cross-linked Porcine Dermis vs. Bioabsorbable Synthetic Mesh for the Repair of Abdominal Wall Defects in At-risk Patients Unknown status NCT01794338
23 Study for the Evaluation of the Efficiency of a Device for the Diagnosis of an Internal Rectal Prolapse, a Pelvic Floor Ptosis and for the Determination of an Internal Hernia Into the Douglas Pouch Unknown status NCT00836680
24 The Effect of Music Therapy On Infants Born With Gastroschisis Unknown status NCT01469208
25 Bedside Silo Versus Attempted Operative Closure for Gastroschisis Completed NCT01506531
26 Health Related Quality of Life of Patients With Abdominal Wall Defects Completed NCT03960320
27 A Prospective Randomized Study to Evaluate Two Different Surgical Methods for Treatment for Abdominal Wall Diastasis Completed NCT01586741
28 Abdominal Hernia in Cirrhotic Patients: Surgery or Conservative Treatment? Completed NCT02787772
29 Repair of Large Abdominal Hernia Defects By A Novel Biologic Mesh: A Prospective Multi-Center Observational Study Completed NCT00892333
30 Adequacy of Drainage During Prosthetic Repair of Incisional Abdominal Hernias: a Randomized Controlled Trial. Completed NCT00478348
31 The Use of Synthetic Mesh in Contaminated and Infected Abdominal Wall Repairs: Challenging the Dogma of an Absolute Contra-indication. A Long-term Prospective Clinical Trial Completed NCT03702153
32 A Retrospective Study Evaluating the Use of Permacol Surgical Implant in the Repair of Abdominal Wall Defects Completed NCT01214252
33 A Prospective Outcome Study of Condensed Fenestrated PTFE Mesh (MotifMESH) in Non-sterile Abdominal Wall Defects Completed NCT01364233
34 Feasibility Study of The Use of FLEX HD® Surgical Implant or STRATTICE® Reconstructive Tissue Matrix in The Closure of Abdominal Wall Defects With Component Separation in Clean or Contaminated Cases Completed NCT01597128
35 Pivotal Study to Evaluate the Efficacy of a Laparoscopic Port Closure Device Completed NCT01024296
36 ENHANCE: A Prospective Long-term EvaluatioN of the Use of Permacol™ Biological Implant in tHe Repair of Complex AbdomiNal Wall CasEs Completed NCT01268514
37 Collagen Alterations in Patients With Abdominal Wall Hernias Completed NCT02734563
38 Nationwide Long-term Outcome Surveillance of Physiomesh® vs. Other Meshes in Laparoscopic Incisional Hernia Repair Completed NCT03846661
39 Internal Hernia After Laparoscopic Gastric Bypass Completed NCT01137201
40 Incidence of Internal Hernias After Laparoscopic Roux-en-Y Gastric Bypass Over the Last Decade: 1997 to 2008 Completed NCT01040364
41 A Post-Market, Prospective, Multi-Center, Single-Arm Clinical Investigation of Phasix™ Mesh for VHWG Grade 3 Midline Hernia Repair Completed NCT02720042
42 A Randomized Controlled Trial Comparing Combination Therapy of Acetaminophen Plus Ibuprofen Versus Tylenol #3 for the Treatment of Pain After Outpatient Surgery Completed NCT00245375 Tylenol #3;Combination Tylenol and Ibuprofen
43 Abdominal CT Angiography of Mesenteric Vessels for Diagnosing Internal Herniation After Roux-en-Y Gastric Bypass Surgery Completed NCT03114761
44 CT Images and Clinical Relevance of Internal Hernia Completed NCT03703752
45 Regional Haemoglobin Oxygen Saturation in the Splanchnic Circulation in Neonates With Gastroschisis; Quantifying and Qualifying the Role for Routine Monitoring Completed NCT03533439
46 Paediatric Surgery Across Sub-Saharan Africa: A Multi-Centre Prospective Cohort Study Completed NCT03185637
47 Probiotics in Infants With Gastroschisis Completed NCT01316510
48 Clinical and Biological Outcomes of Human Milk and Formula Intake After Gastroschisis Repair Completed NCT02575846
49 Sonographic Assessment of the Diaphragm After Plication in Adults With Unilateral Eventration: a Two-centre Experience Completed NCT04052295
50 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767

Search NIH Clinical Center for Abdominal Wall Defect

Genetic Tests for Abdominal Wall Defect

Anatomical Context for Abdominal Wall Defect

MalaCards organs/tissues related to Abdominal Wall Defect:

Small Intestine, Liver, Colon, Placenta, Testis, Smooth Muscle, Appendix

Publications for Abdominal Wall Defect

Articles related to Abdominal Wall Defect:

(show top 50) (show all 3193)
# Title Authors PMID Year
Rare small bowel obstruction: Parastomal hernia of cutaneous ureterostomy after robot-assisted radical cystectomy. Case report. 61
33489772 2021
New insights into the obligatory nature of cyclooxygenase-2 and PGE2 during early chick embryogenesis. 61
33454433 2021
Developing algorithms for identifying major structural birth defects using automated electronic health data. 61
33219586 2021
Prenatal ultrasonographic findings and fetal/neonatal outcomes of body stalk anomaly. 61
33583092 2021
Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects. 61
33569925 2021
Prenatal diagnosis of intestinal nonrotation using magnetic resonance imaging: Is it possible? 61
33608743 2021
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
Pediatric Surgery Simulation-Based Training for the General Surgery Resident. 61
32561030 2021
It Is Complex: Predicting Gastroschisis Outcomes Using Prenatal Imaging. 61
33051061 2021
Near-infrared spectroscopy (NIRS) measured tissue oxygenation in neonates with gastroschisis: a pilot study. 61
33602021 2021
Multiple cytokine analysis in gastroschisis: Association with adverse outcomes including fetal brain damage. 61
33341000 2021
The association of perinatal and clinical factors with outcomes in infants with gastroschisis-a retrospective multicenter study in Finland. 61
33532890 2021
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
Glucocorticoids Improve Enteral Feeding Tolerance in Pediatric Short Bowel Syndrome with Chronic Intestinal Inflammation. 61
33534364 2021
Successful closure of a large abdominal wall defect using endoscopic component separation technique in an infant with a giant ventral hernia after staged surgery for omphalocele. 61
33409717 2021
Influence of indications on perinatal outcomes after radio frequency ablation in complicated monochorionic pregnancies: a retrospective cohort study. 61
33422050 2021
The incidence of abdominal surgical site infections after abdominal birth defects surgery in infants: A systematic review with meta-analysis. 61
33485614 2021
Repeat serial transverse enteroplasty procedure (reSTEP): Is it worth it? 61
33455806 2021
Giant desmoid tumour of abdominal wall: resection and reconstruction by posterior component separation. 61
33509884 2021
Clinical and Radiologic Predictors of Parastomal Hernia Development After End Colostomy. 61
33119406 2021
Predictors of long-term respiratory insufficiency of exomphalos major. 61
33454084 2021
Flood syndrome managed by partial splenic embolization and percutaneous peritoneal drainage. 61
33204382 2021
Investigation of a connection between abdominal wall defects and severity of the herniation in fetuses with gastroschisis and omphalocele. 61
33420099 2021
Development of a prenatal clinical care pathway for uncomplicated gastroschisis and literature review. 61
32145003 2021
Is there a role for fetal interventions in gastroschisis management? - An updated comprehensive review. 61
32876346 2021
Risk Factors for Inpatient Mortality in Patients Born with Gastroschisis in the United States. 61
31412402 2021
Failure of primary closure predicts prolonged length of stay in gastroschisis patients. 61
33151349 2021
Minimizing Variance in Gastroschisis Management Leads to Earlier Full Feeds in Delayed Closure. 61
32920278 2021
Double barrel enteroplasty for the management of short bowel syndrome in children. 61
33104840 2021
A novel internal abdominal oblique muscle flap to close a major abdominal wall defect. 61
31045244 2021
Congenital abdominal wall defects and cryptorchidism: a population-based study. 61
33517489 2021
Education of pediatric surgery residents over time: Examining 15 years of case logs. 61
33139026 2021
Associations between cumulative environmental quality and ten selected birth defects in Texas. 61
32864854 2021
The role of intra-abdominal pressure in human testicular migration. 61
32758302 2021
Folic acid supplementation and risk for foetal abdominal wall defects in China: Results from a large population-based intervention cohort study. 61
33494841 2021
Antibiotic Utilization and Infection Among Infants with Abdominal Wall Defects. 61
32826725 2020
Incisional hernia after surgical correction of abdominal congenital anomalies in infants: a systematic review with meta-analysis. 61
33273483 2020
Management of giant omphalocele with a simple and efficient nonsurgical silo. 61
33341259 2020
Ventral hernia secondary to giant omphalocele in a child: combined approach of botulinum toxin and preoperative progressive pneumoperitoneum. 61
31858310 2020
Testicular Ectopia in a Child's Anterior Abdominal Wall: A Case Report and Literature Review. 61
33284787 2020
A smart scaffold composed of three-dimensional printing and electrospinning techniques and its application in rat abdominal wall defects. 61
33303038 2020
First trimester diagnosis of body stalk anomaly complicated by ectopia cordis. 61
33322994 2020
Free superficial circumflex iliac artery perforator fascial flap for reconstruction of upper abdominal wall with extensive infected herniation: A case report. 61
33314361 2020
Stem cell and niche regulation in human short bowel syndrome. 61
33141758 2020
Does Use of a Feeding Protocol Change Outcomes in Gastroschisis? A Report from the Midwest Pediatric Surgery Consortium. 61
33368085 2020
Factors that Influence Longitudinal Growth from Birth to 18 Months of Age in Infants with Gastroschisis. 61
31365930 2020
Gastroschisis: A State-of-the-Art Review. 61
33348575 2020
Fetal gastroschisis: Maternal and fetal methylation profile. 61
33332636 2020
Gastroschisis prevalence substantially decreased from 2009 through 2018 after a 3-fold increase from 1997 to 2008. 61
32276850 2020
Gastroschisis in Finland 1993 to 2014-Increasing Prevalence, High Rates of Abortion, and Survival: A Population-Based Study. 61
31891948 2020

Variations for Abdominal Wall Defect

ClinVar genetic disease variations for Abdominal Wall Defect:

# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLOD1 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter) SNV Pathogenic 374077 rs1057518879 1:12025628-12025628 1:11965571-11965571
2 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
3 PGAP2 NM_014489.4(PGAP2):c.97G>A (p.Ala33Thr) SNV Uncertain significance 816936 rs1564998996 11:3832586-3832586 11:3811356-3811356
4 LAMA5 NM_005560.6(LAMA5):c.857G>T (p.Arg286Leu) SNV Uncertain significance 986382 20:60926966-60926966 20:62351910-62351910

Expression for Abdominal Wall Defect

Search GEO for disease gene expression data for Abdominal Wall Defect.

Pathways for Abdominal Wall Defect

GO Terms for Abdominal Wall Defect

Sources for Abdominal Wall Defect

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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