MCID: ABD010
MIFTS: 37

Abdominal Wall Defect

Categories: Gastrointestinal diseases

Aliases & Classifications for Abdominal Wall Defect

Summaries for Abdominal Wall Defect

Genetics Home Reference : 24 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.

MalaCards based summary : Abdominal Wall Defect, also known as gastroschisis, is related to omphalocele and shprintzen omphalocele syndrome. An important gene associated with Abdominal Wall Defect is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1). The drugs Abatacept and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and skin, and related phenotypes are limbs/digits/tail and no phenotypic analysis

Wikipedia : 72 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 all 42)
# Related Disease Score Top Affiliating Genes
1 omphalocele 29.3 GJB2 PLOD1
2 shprintzen omphalocele syndrome 12.4
3 omphalocele-cleft palate syndrome, lethal 12.4
4 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 12.3
5 shprintzen-goldberg craniosynostosis syndrome 11.3
6 gastroschisis 11.3
7 omphalocele, autosomal 11.2
8 beckwith-wiedemann syndrome 11.0
9 fryns microphthalmia syndrome 10.9
10 amniotic band syndrome 10.9
11 enterocele 10.2
12 cloacal exstrophy 9.9
13 desmoid tumor 9.9
14 neural tube defects 9.8
15 squamous cell carcinoma 9.8
16 exstrophy of bladder 9.8
17 prune belly syndrome 9.8
18 neural tube defects, folate-sensitive 9.8
19 peritonitis 9.8
20 gastroesophageal reflux 9.8
21 multiple mitochondrial dysfunctions syndrome 5 9.8
22 diaphragmatic hernia, congenital 9.8
23 short bowel syndrome 9.7
24 limb-body wall complex 9.7
25 sarcoma 9.7
26 anus, imperforate 9.7
27 soft tissue sarcoma 9.7
28 ichthyosis 9.7
29 focal dermal hypoplasia 9.7
30 cholecystitis 9.7
31 ichthyosis, x-linked 9.7
32 histiocytoma 9.7
33 fibrous histiocytoma 9.7
34 muscular atrophy 9.7
35 alpha-fetoprotein deficiency 9.7
36 actinomycosis 9.7
37 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.7
38 hydrops, lactic acidosis, and sideroblastic anemia 9.7
39 duodenitis 9.7
40 fasciitis 9.7
41 inguinal hernia 9.7
42 necrotizing fasciitis 9.7

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.96 GJB2 PLOD1
2 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 all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved Phase 2 332348-12-6 10237
2 Immunosuppressive Agents Phase 2,Early Phase 1
3 Antirheumatic Agents Phase 2
4
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 445643 439492
5
Mycophenolic acid Approved Early Phase 1 24280-93-1 446541
6
Mycophenolate mofetil Approved, Investigational Early Phase 1 128794-94-5 5281078
7
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
8
Prednisone Approved, Vet_approved Early Phase 1 53-03-2 5865
9 Analgesics
10 Central Nervous System Depressants
11 Anesthetics
12 Anesthetics, Local
13 Peripheral Nervous System Agents
14 Pharmaceutical Solutions

Interventional clinical trials:

(show all 21)

# Name Status NCT ID Phase Drugs
1 Safety Study of MotifMESH (cPTFE) in Abdominal Surgery Completed NCT01364233 Phase 4
2 Open Mesh Versus Suture Repair in Treatment of Abdominal Wall Hernias Completed NCT01018524 Phase 4
3 Prospective Trial Comparing the Performance Profiles of Two Non-Cross-Linked Porcine Dermal Matrices in Abdominal Wall Reconstruction Recruiting NCT02228889 Phase 4
4 Repair of Challenging Abdominal Wall Defects: Strattice(TM) TM in Abdominal Wall Repair (StAR) Terminated NCT01083472 Phase 4
5 TIGR vs Polypropylene (Permanent) Mesh: Randomised Trial Unknown status NCT01136603 Phase 2
6 "BP as a New Device for Surgery and Solid Cancer and Hematopoietic System Tumors Treatment. Effects of BP Implantation" Unknown status NCT02328352 Phase 1, Phase 2
7 Abdominal Wall Transplant Not yet recruiting NCT03310905 Phase 2 Isolated Abdominal Wall Transplant with Belatacept
8 BP as a Super-light Mesh and as a New Fixation Device for General Surgery -DM108/2008-B Unknown status NCT02341222 Early Phase 1
9 A Retrospective Study Evaluating the Use of Permacol Surgical Implant in the Repair of Abdominal Wall Defects Completed NCT01214252
10 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
11 Giant Ventral Incisional Hernia: Abdominal Wall Function, Respiratory Performance and Quality of Life Completed NCT02011048
12 The Permacol Dutch Cohort Study Completed NCT02166112
13 Vascularized Composite Allotransplantation for Treatment of Abdominal Wall Defects Recruiting NCT02416674 Early Phase 1 Immunosuppressive Agents
14 The Use of Biologic Mesh vs Bioabsorbable Mesh During Ventral Hernia Repair in At-risk Patients Recruiting NCT01794338
15 Study to Evaluate Reduction in Pain After Laparoscopic Hernia Repair With Mesh Soaked in Bupivacaine Solution Recruiting NCT03035617 Bupivacaine
16 Oral Care in Infants With Gastroschisis Recruiting NCT03393832
17 Novel Strategies to Improve Immunomodulation and Non-invasive Clinical Monitoring in VCA Recruiting NCT03241719 Early Phase 1 IL-2
18 ENHANCE: A Prospective EvaluatioN of Permacolâ„¢ in tHe Repair of Complex AbdomiNal Wall CasEs Active, not recruiting NCT01268514
19 Abdominal Wall Repair With Strattice in Germany: a Cohort Study Enrolling by invitation NCT02168231
20 Review of Complex Recurrent Hernia Repair Enrolling by invitation NCT01644695
21 Intraoperative Biomechanics in Complex Abdominal Wall Reconstruction Not yet recruiting NCT03296475

Search NIH Clinical Center for Abdominal Wall Defect

Genetic Tests for Abdominal Wall Defect

Genetic tests related to Abdominal Wall Defect:

# Genetic test Affiliating Genes
1 Abnormality of the Abdominal Wall 28

Anatomical Context for Abdominal Wall Defect

MalaCards organs/tissues related to Abdominal Wall Defect:

38
Small Intestine, Liver, Skin, Lung, Breast

Publications for Abdominal Wall Defect

Articles related to Abdominal Wall Defect:

(show top 50) (show all 167)
# Title Authors Year
1
An Immunopathological Evaluation of the Porcine Cholecyst Matrix as a Muscle Repair Graft in a Male Rat Abdominal Wall Defect Model. ( 29334850 )
2018
2
Comparison of small intestinal submucosa and polypropylene mesh for abdominal wall defect repair. ( 29375018 )
2018
3
Sliding free transverse rectus abdominis myocutaneous flap for closure of a massive abdominal wall defect: A case report. ( 29451331 )
2018
4
Electrospun biodegradable microfibers induce new collagen formation in a rat abdominal wall defect model: A possible treatment for pelvic floor repair? ( 28306194 )
2017
5
Enhancement of abdominal wall defect repair using allogenic platelet-rich plasma with commercial polyester/cotton fabric (Damour) in a canine model. ( 28603214 )
2017
6
Application of a Silicone Sheet in Negative-Pressure Wound Therapy to Treat an Abdominal Wall Defect after Necrotizing Fasciitis. ( 28194352 )
2017
7
Complex abdominal wall defect repair using biologic porcine matrix. ( 28217988 )
2017
8
Not gastroschisis or omphalocele or anything in between: a novel congenital abdominal wall defect. ( 28271155 )
2017
9
Reconstruction of a large full-thickness abdominal wall defect with flow-through-based alt flaps: A case report. ( 29232006 )
2017
10
Component separation in the management of abdominal wall defect after laparostomy: Clinical and anatomical videos (with video). ( 28595856 )
2017
11
Study of a new biodegradable hernia patch to repair abdominal wall defect in rats. ( 28606533 )
2017
12
Biomechanical properties and healing effects of chitin patch in a rat full-thickness abdominal wall defect model. ( 28922558 )
2017
13
Nitro-oleic acid (NO2OA) release enhances regional angiogenesis in a rat abdominal wall defect model. ( 29187125 )
2017
14
Large Chest and Abdominal Wall Defect Reconstruction With Anterolateral Thigh Free Flap to Right Gastroepiploic Artery Anastomosis. ( 28959374 )
2017
15
Abdominal Wall Defect Reconstructed by Breast Flaps Using a Mercedes Closure Pattern. ( 26913520 )
2016
16
Does a large abdominal wall defect affect lung growth? ( 27692627 )
2016
17
A Neurotized Anterolateral Thigh Flap With a Unique Anastomosis to the Gastroepiploic Artery: A Case Report of a Reconstruction of Composite Abdominal Wall Defect. ( 27499826 )
2016
18
Reconstruction of massive full-thickness abdominal wall defect: successful treatment with nonabsorbable mesh, negative pressure wound therapy, and split-skin grafting. ( 27761251 )
2016
19
Combined Use of an Anterolateral Thigh Flap and Superficial Inferior Epigastric Artery Flap for Reconstruction of an Extensive Abdominal Wall Defect. ( 27975026 )
2016
20
Mechanical strength vs. degradation of a biologically-derived surgical mesh over time in a rodent full thickness abdominal wall defect. ( 27619242 )
2016
21
Metachronous carcinoma of rectum with reconstruction of a full-thickness abdominal wall defect using a pedicled anterolateral thigh flap. ( 27161142 )
2016
22
Ventral abdominal wall defect correction in rats with contaminated meshes. ( 27828602 )
2016
23
Reconstruction of an abdominal wall defect with biologic mesh after resection of a desmoid tumor in a patient with a Gardner's syndrome. ( 27538186 )
2016
24
Combined therapy of NPWT and bipedicled flap as an alternative approach for giant abdominal wall defect with significant visceral edema: report of a case. ( 27252963 )
2015
25
Urinary bladder herniation through a caudoventral abdominal wall defect in a mature cat. ( 26347198 )
2015
26
Squamous cell carcinoma arising from abdominal wall defect lesion complicated with cloacal exstrophy. ( 25878926 )
2015
27
A randomized controlled experimental study comparing chitosan coated polypropylene mesh and Proceeda8c mesh for abdominal wall defect closure. ( 26594357 )
2015
28
Use of small intestinal submucosal and acellular dermal matrix grafts in giant omphaloceles in neonates and a rabbit abdominal wall defect model. ( 26364879 )
2015
29
A successful early gore-tex reconstruction of an abdominal wall defect in a neonate with Cantrell pentalogy: a case report and literature review. ( 25678967 )
2015
30
Severe abdominal wall defect leading to dehiscence in focal dermal hypoplasia (Goltz syndrome). ( 25751343 )
2015
31
Bacterial adhesion to biological versus polymer prosthetic materials used in abdominal wall defect repair: do these meshes show any differences in vitro? ( 25862028 )
2015
32
Intraperitoneal microdialysis in the postoperative surveillance of infants undergoing surgery for congenital abdominal wall defect: A pilot study. ( 25783347 )
2015
33
Use of surgical mesh of different compositions in the correction of the abdominal wall defect in rats. ( 26648152 )
2015
34
Effects of nitrofurazone on correction of abdominal wall defect treated with polypropylene mesh involved by fibrous tissue. ( 26560427 )
2015
35
Complex abdominal wall defect reconstruction using a latissimus dorsi free flap with mesh after malignant tumor resection. ( 26037038 )
2015
36
Simultaneous abdominal wall defect repair and Tenckhoff catheter placement in candidates for peritoneal dialysis. ( 26621104 )
2015
37
Differential diagnosis of abdominal wall defects - omphalocele versus gastroschisis. ( 24524464 )
2014
38
Investigating muscle regeneration with a dermis/small intestinal submucosa scaffold in a rat full-thickness abdominal wall defect model. ( 24889422 )
2014
39
A novel approach to reconstruct a large full thickness abdominal wall defect: successful treatment with MatriDermAr and Split. ( 25041311 )
2014
40
Inflammatory reaction and tensile strength of the abdominal wall after an implant of polypropylene mesh and polypropylene/poliglecaprone mesh for abdominal wall defect treatment in rats. ( 25185056 )
2014
41
Dermatan sulfate epimerase 1 deficient mice as a model for human abdominal wall defects. ( 25186462 )
2014
42
Treatment of a chronic vesicocutaneous fistula and abdominal wall defect after resection of a soft tissue sarcoma using a bipedicled latissimus dorsi and serratus anterior free flap. ( 25040066 )
2014
43
Meconial peritonitis in a rare association of partial ileal apple-peel atresia with small abdominal wall defect. ( 25573643 )
2014
44
Rectus abdominis muscle malignant fibrous histiocytoma causing a large abdominal wall defect: reconstruction with biological mesh. ( 24653854 )
2014
45
Full thickness abdominal wall defect in growing rats as a model for congenital diaphragmatic hernia prosthetic repair. ( 25280646 )
2014
46
Host tissue integration process in abdominal wall defect repair: a comparison of two porcine-derived grafts in a long-term study. ( 24707915 )
2014
47
Reconstruction of large-size abdominal wall defect using biodegradable poly-p-dioxanone mesh: an experimental canine study. ( 24625138 )
2014
48
Reconstruction of full thickness abdominal wall defect following tumor resection: a case report. ( 25033593 )
2014
49
Carbon nanotubes as VEGF carriers to improve the early vascularization of porcine small intestinal submucosa in abdominal wall defect repair. ( 24648727 )
2014
50
MRI findings in fetuses with an abdominal wall defect: gastroschisis, omphalocele, and cloacal exstrophy. ( 23268122 )
2013

Variations for Abdominal Wall Defect

ClinVar genetic disease variations for Abdominal Wall Defect:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
2 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh38 Chromosome 1, 11965571: 11965571

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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