Aliases & Classifications for Omphalocele

MalaCards integrated aliases for Omphalocele:

Name: Omphalocele 12 59 55 6 15
Congenital Omphalocele 73
Omphalocoele 12

Characteristics:

Orphanet epidemiological data:

59
omphalocele
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),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine),1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060327
ICD10 33 Q79.2
ICD9CM 35 756.72
MeSH 44 D006554
NCIt 50 C98997
Orphanet 59 ORPHA660
ICD10 via Orphanet 34 Q79.2
UMLS via Orphanet 74 C0795690
SNOMED-CT via HPO 69 282020008 367494004 49550006

Summaries for Omphalocele

Disease Ontology : 12 A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.

MalaCards based summary : Omphalocele, also known as congenital omphalocele, is related to omphalocele, autosomal and beckwith-wiedemann syndrome. An important gene associated with Omphalocele is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Endochondral Ossification. The drugs Pharmaceutical Solutions and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and heart, and related phenotypes are omphalocele and premature birth

Wikipedia : 76 Omphalocele, also called exomphalos, is a rare abdominal wall defect in which the intestines, liver and... more...

Related Diseases for Omphalocele

Diseases in the Omphalocele family:

Omphalocele, Autosomal

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

(show top 50) (show all 138)
# Related Disease Score Top Affiliating Genes
1 omphalocele, autosomal 34.4 GJB2 PLOD1
2 beckwith-wiedemann syndrome 31.8 AFP CDKN1C KCNQ1OT1
3 gastroschisis 31.7 AFP BMP1
4 anus, imperforate 30.6 GLI3 MNX1
5 neural tube defects 26.4 AFP MNX1 MTHFD1 SLC19A1 TCN2 ZIC3
6 shprintzen omphalocele syndrome 12.4
7 omphalocele-cleft palate syndrome, lethal 12.4
8 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 12.3
9 omphalocele, diaphragmatic hernia, and radial ray defects 12.1
10 omphalocele, x-linked 11.8
11 diaphragmatic agenesis radial aplasia omphalocele 11.8
12 familial omphalocele syndrome with facial dysmorphism 11.8
13 abdominal wall defect 11.8
14 oeis complex 11.4
15 pagod syndrome 11.4
16 game friedman paradice syndrome 11.4
17 exstrophy of bladder 11.3
18 brachial amelia, cleft lip, and holoprosencephaly 11.2
19 otopalatodigital syndrome, type ii 11.1
20 manitoba oculotrichoanal syndrome 10.9
21 hypertelorism, teebi type 10.8
22 acrocephalopolydactylous dysplasia 10.8
23 donnai-barrow syndrome 10.8
24 3mc syndrome 3 10.8
25 3mc syndrome 1 10.8
26 3mc syndrome 2 10.8
27 fibrochondrogenesis 10.8
28 froster-huch syndrome 10.8
29 ichthyosis follicularis atrichia photophobia syndrome 10.8
30 methimazole antenatal exposure 10.8
31 schisis association 10.8
32 hemihyperplasia, isolated 10.6 CDKN1C KCNQ1OT1
33 spastic paraplegia 17, autosomal dominant 10.5 CDKN1C KCNQ1OT1
34 umbilical hernia 10.5 CDKN1C PLOD1
35 vitamin metabolic disorder 10.4 CD320 TCN2
36 sacrococcygeal teratoma 10.1 AFP MNX1
37 diaphragmatic hernia, congenital 10.0
38 neural tube defects, folate-sensitive 10.0
39 mercury poisoning 9.9
40 germ cell and embryonal cancer 9.9 AFP CDKN1C MNX1
41 down syndrome 9.9
42 anencephaly 9.9
43 aging 9.9
44 pulmonary hypertension 9.9
45 hepatitis 9.9
46 esophagitis 9.9
47 ventricular septal defect 9.9
48 ectopia cordis 9.9
49 cleft palate, isolated 9.8
50 macroglossia 9.8

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to Omphalocele

Symptoms & Phenotypes for Omphalocele

Human phenotypes related to Omphalocele:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 omphalocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0001539
2 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622

MGI Mouse Phenotypes related to Omphalocele:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.29 GJB2 GLI3 MNX1 MTHFD1 NUAK1 SLC19A1
2 mortality/aging MP:0010768 10.28 AFP ALX4 BMP1 BMPR1A FLNA FREM1
3 cardiovascular system MP:0005385 10.26 BMP1 BMPR1A CD320 FLNA GJB2 GLI3
4 homeostasis/metabolism MP:0005376 10.24 AFP BMP1 BMPR1A CD320 FLNA GJB2
5 craniofacial MP:0005382 10.2 NUAK1 ZIC3 ALX4 BMP1 BMPR1A FLNA
6 embryo MP:0005380 10.18 ALX4 BMP1 BMPR1A GJB2 GLI3 MTHFD1
7 digestive/alimentary MP:0005381 10.14 ALX4 BMP1 FLNA FREM1 GLI3 MNX1
8 limbs/digits/tail MP:0005371 10.11 ALX4 BMP1 BMPR1A FREM1 GJB2 GLI3
9 nervous system MP:0003631 10.07 ALX4 BMPR1A FLNA FREM1 GJB2 GLI3
10 integument MP:0010771 10.02 ALX4 BMPR1A FREM1 GJB2 GLI3 PLOD1
11 muscle MP:0005369 9.95 NUAK1 PLOD1 ALX4 BMP1 BMPR1A FREM1
12 normal MP:0002873 9.92 ALX4 BMPR1A FLNA FREM1 GJB2 GLI3
13 reproductive system MP:0005389 9.91 AFP BMPR1A CD320 FLNA FREM1 GJB2
14 respiratory system MP:0005388 9.7 FLNA FREM1 GLI3 MNX1 ZIC3 ALX4
15 skeleton MP:0005390 9.65 ALX4 BMP1 BMPR1A FLNA FREM1 GJB2
16 vision/eye MP:0005391 9.28 FLNA FREM1 GJB2 GLI3 NUAK1 ZIC3

Drugs & Therapeutics for Omphalocele

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4,Not Applicable
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
4 Hematinics Phase 3
5 Micronutrients Phase 3,Not Applicable
6 Trace Elements Phase 3,Not Applicable
7 Vitamin B Complex Phase 3
8 Vitamins Phase 3,Not Applicable
9 Folate Nutraceutical Phase 3
10 Vitamin B9 Nutraceutical Phase 3
11 Anesthetics Not Applicable
12 lysine Nutraceutical Not Applicable

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Multi-Center Study To Examine The Use Of Flex HD® And Strattice In The Repair Of Large Abdominal Wall Hernias Unknown status NCT01987700 Phase 4
2 Usefulness of a Prothetic Absorbable Mesh in Incisional Hernia Prevention After Midline Laparotomy Unknown status NCT02208557 Phase 4
3 Prophylaxis of Ileostomy Closure Site Hernia by Placing Mesh Recruiting NCT02226887 Phase 4
4 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
5 Elemental Formula in Neonates Post Small Bowel Resection: Improved Weaning From Total Parenteral Nutrition? Unknown status NCT01891279 Not Applicable
6 ProLOVE - Prospective Randomized Study of Midline Incisional Hernia Treatment Completed NCT00472537
7 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753 Not Applicable
8 Utility of a Supraaponeurotic Mesh as Prophylaxis of the Midline Eventration After an Oncological Colorrectal Resection Recruiting NCT03520465 Not Applicable
9 Genetic Analysis of Congenital Diaphragmatic Disorders Recruiting NCT01243229
10 Interest of the Manual Exploration as a Supplement to the Coelioscopy in the Evaluation of the Resectability of Peritoneal Carcinosis Recruiting NCT02493972 Not Applicable
11 Impact of Life Events and Psychological Stress in Rheumatoid Arthritis Set-up : Case-control Study Within a Multifactorial and Integrative Psychological Model Recruiting NCT03550833
12 Primary Fascial Closure With Laparoscopic Ventral Hernia Repair: A Randomized Controlled Trial Active, not recruiting NCT02363790 Not Applicable
13 Impact of the Systematic Closure of the Epigastric Trocar on Postoperative Incisional Hernia After Sleeve Gastrectomy Rate of First Intention. Monocentric Study, Before / After Prospective. Not yet recruiting NCT02973009
14 Mini-laparotomy Versus Mini Lumbotomy Not yet recruiting NCT02888613 Not Applicable

Search NIH Clinical Center for Omphalocele

Genetic Tests for Omphalocele

Anatomical Context for Omphalocele

MalaCards organs/tissues related to Omphalocele:

41
Liver, Skin, Heart, Small Intestine, Lung, Spleen, Kidney

Publications for Omphalocele

Articles related to Omphalocele:

(show top 50) (show all 596)
# Title Authors Year
1
Diagnosis and management of a fatal case of sepsis caused by<i>Candida parapsilosis sensu stricto</i>in a neonate with omphalocele. ( 29348997 )
2018
2
Ex utero intrapartum treatment for giant congenital omphalocele. ( 29508360 )
2018
3
Repair of a Giant Omphalocele in an Infant With a Pericardial Implant Crosslinked With Oligourethane. ( 29660797 )
2018
4
ZORRO: Z Omphaloplasty Repair for Omphalocele. ( 29735202 )
2018
5
Omphalocele: from diagnosis to growth and development at 2 years of age. ( 29563149 )
2018
6
Vitelline fistula associated with omphalocele: Diagnostic dilemma? ( 29709845 )
2018
7
Accuracy and impact of prenatal diagnosis in infants with omphalocele. ( 29637257 )
2018
8
Is omphalocele a non-specific malformation in New Zealand White rabbits? ( 29550350 )
2018
9
Patent Omphalomesenteric Duct with Protruding Bowels through a Ruptured Omphalocele. ( 29400311 )
2018
10
TiO<sub>2</sub> nanoparticles induce omphalocele in chicken embryo by disrupting Wnt signaling pathway. ( 29555972 )
2018
11
Dressed for success? Silver impregnated nanocrystalline dressing for initial treatment of giant omphalocele. ( 29519568 )
2018
12
Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect complex, multiple major reconstructive surgeries needed. ( 29416290 )
2018
13
Early surgical management for giant omphalocele: Results and prognostic factors. ( 29803304 )
2018
14
Omphalocele and Gastroschisis in Newborns: Over 16 Years of Experience from a Single Clinic. ( 28770124 )
2017
15
Giant Omphalocele Complicated by Postoperative Duodenal Obstruction. ( 28164002 )
2017
16
Pentalogy of Cantrell in a monozygotic twin with a giant omphalocele firmly attached to the amniotic membrane: successful prenatal diagnosis and cesarean delivery. ( 28686315 )
2017
17
Staged closure of a giant omphalocele with amnion preservation, modified technique. ( 28397950 )
2017
18
Umbilical cord sparing technique for repair of congenital hernia into the cord and small omphalocele. ( 27837991 )
2017
19
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases. ( 29047350 )
2017
20
Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation. ( 28794915 )
2017
21
A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings. ( 28892921 )
2017
22
The use of ECMO for gastroschisis and omphalocele: Two decades of experience. ( 28410786 )
2017
23
A rare case of OEIS complex - newer approach to diagnosis of exstrophy bladder by color doppler and its differentiation from simple omphalocele. ( 29379239 )
2017
24
High Prevalence of Pulmonary Hypertension Complicates the Care of Infants with Omphalocele. ( 28704835 )
2017
25
Rare combination of left-sided congenital diaphragmatic hernia and omphalocele. ( 28790097 )
2017
26
Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother. ( 28904658 )
2017
27
The Upturned Superior Mesenteric Artery Sign for First-Trimester Detection of Congenital Diaphragmatic Hernia and Omphalocele. ( 28150314 )
2017
28
Does omphalocele major undergo spontaneous closure? ( 28928917 )
2017
29
Not gastroschisis or omphalocele or anything in between: a novel congenital abdominal wall defect. ( 28271155 )
2017
30
Pulmonary hypertension predicts mortality in infants with omphalocele. ( 26836821 )
2016
31
HDlive imaging of a giant omphalocele. ( 27299988 )
2016
32
Correction: Prevalence of Gastroschisis, Omphalocele, Spina Bifida and Orofacial Clefts of Neonates from January 2000 to December 2010 in Leipzig, Saxony, Saxony-Anhalt and Germany. ( 27533496 )
2016
33
Negative pressure wound therapy for initial management of giant omphalocele. ( 26778271 )
2016
34
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. ( 27160889 )
2016
35
Congenital omphalocele and cleft palate in two fetuses. ( 26867152 )
2016
36
The Impact of Breast Milk, Respiratory Insufficiency and GERD on Enteral Feeding in Infants with Omphalocele. ( 27820755 )
2016
37
Topical Iodine-Induced Thyrotoxicosis in a Newborn with a Giant Omphalocele. ( 27551578 )
2016
38
Thoracic heteropagus conjoined twins associated to an omphalocele: Report of a case and complete review of the literature. ( 28051055 )
2016
39
Herniated liver mimicking an intracardiac mass in a newborn with omphalocele. ( 27720185 )
2016
40
Repair of Postoperative Abdominal Hernia in a Child with Congenital Omphalocele Using Porcine Dermal Matrix. ( 27110247 )
2016
41
Omphalocele, Inguino-scrotal Hernia and Primary Pulmonary Hypertension: A Rare Combination in a Neonate. ( 26138579 )
2015
42
Omphalocele major with absent lower limb. ( 25829718 )
2015
43
Large Hernia of Umbilical Cord Misdiagnosed as Omphalocele. ( 26290818 )
2015
44
Multilayered Flap Technique: A Method for Delayed Closure of Giant Omphalocele. ( 26207550 )
2015
45
Giant Omphalocele in an Adolescent Boy. ( 26139974 )
2015
46
CO-OCCURRENCE OF NEURAL TUBE DEFECT, THORACAL DEFECT AND OMPHALOCELE: A RARE CASE AND REVIEW OF THE LITERATURE. ( 26349198 )
2015
47
First-trimester diagnosis of recurrent omphalocele associated with fetal trisomy 18 but without parental mosaicism. ( 25951728 )
2015
48
Frequency and complications of inguinal hernia repair in giant omphalocele. ( 26078212 )
2015
49
Can omphalocele ratio predict postnatal outcomes? ( 26541312 )
2015
50
Long-term trends and seasonality of omphalocele during 1996-2010 in China: a retrospective analysis based on the hospital-based birth defects surveillance system. ( 25909955 )
2015

Variations for Omphalocele

ClinVar genetic disease variations for Omphalocele:

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 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
3 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh37 Chromosome 1, 12025628: 12025628
4 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh38 Chromosome 1, 11965571: 11965571

Copy number variations for Omphalocele from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 137137 2 138750000 144750000 Deletion ARHGAP15 Omphalocele
2 137141 2 138750000 144750000 Deletion GTDC1 Omphalocele
3 137145 2 138750000 144750000 Deletion HNMT Omphalocele
4 137149 2 138750000 144750000 Deletion KYNU Omphalocele
5 137153 2 138750000 144750000 Deletion LOC64702 Omphalocele
6 137157 2 138750000 144750000 Deletion LRP1B Omphalocele
7 137161 2 138750000 144750000 Deletion NXPH2 Omphalocele
8 137165 2 138750000 144750000 Deletion SPOPL Omphalocele

Expression for Omphalocele

Search GEO for disease gene expression data for Omphalocele.

GO Terms for Omphalocele

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.58 BMPR1A GLI3 ZIC3
2 developmental growth GO:0048589 9.51 BMPR1A GLI3
3 roof of mouth development GO:0060021 9.5 ALX4 BMPR1A GLI3
4 limb morphogenesis GO:0035108 9.49 ALX4 GLI3
5 folic acid metabolic process GO:0046655 9.48 MTHFD1 SLC19A1
6 cobalamin metabolic process GO:0009235 9.46 CD320 TCN2
7 embryonic morphogenesis GO:0048598 9.43 BMPR1A GLI3
8 regulation of cellular senescence GO:2000772 9.37 BMPR1A NUAK1
9 embryonic digit morphogenesis GO:0042733 9.33 ALX4 BMPR1A GLI3
10 cobalamin transport GO:0015889 9.26 CD320 TCN2
11 anterior/posterior pattern specification GO:0009952 9.26 ALX4 BMPR1A GLI3 ZIC3
12 pattern specification process GO:0007389 8.92 ALX4 BMPR1A GLI3 ZIC3

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.65 AFP BMP1 BMPR1A CD320 FREM1 GLI3
2 cobalamin binding GO:0031419 8.62 CD320 TCN2

Sources for Omphalocele

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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